PMID: 24149131

Candidate gene analysis in israeli soldiers with stress fractures.

Journal of sports science & medicine
R Yanovich, E Friedman, R Milgrom, B Oberman, L Freedman, DS Moran
2012

261 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
5-14824172-T-C ANKH c.96+47289A>G - IntronicSNV - 1/11
5-14743455-G-T ANKH c.916-1424C>A - IntronicSNV - 7/11
7-94040963-G-A COL1A2 c.1351-417G>A - IntronicSNV - 23/51
12-48285648-G-A VDR c.-83-9091C>T - intron_variant - 1/9
18-60027241-C-T TNFRSF11A c.575C>T p.Ala192Val Missense 6/9 -
7-93116299-A-G CALCR c.1-6T>C - 5-UTRSNV 3/14 -
7-93116299-A-C CALCR c.1-6T>G - 5-UTRSNV 3/14 -
12-48285648-G-T VDR c.-83-9091C>A - intron_variant - 1/9
14-94773634-G-A SERPINA6 c.885-1079C>T - IntronicSNV - 3/4
7-93078400-A-C CALCR c.649-5331T>G - IntronicSNV - 8/13
7-93116299-A-T CALCR c.1-6T>A - 5-UTRSNV 3/14 -
6-152358940-C-T ESR1 c.1236-23186C>T - IntronicSNV - 5/7
7-93078245-G-T CALCR c.649-5176C>A - IntronicSNV - 8/13
6-152182917-T-C ESR1 c.644-18873T>C - IntronicSNV - 2/7
6-152182917-T-A ESR1 c.644-18873T>A - IntronicSNV - 2/7
5-142662280-G-T NR3C1 c.2034C>A p.Asp678Glu Missense 8/9 -
5-142662280-G-A NR3C1 c.2034C>T p.Asp678Asp Synonymous 8/9 -
5-142662280-G-C NR3C1 c.2034C>G p.Asp678Glu Missense 8/9 -
6-152299969-C-G ESR1 c.1097-32822C>G - IntronicSNV - 4/7
7-93079738-T-C CALCR c.649-6669A>G - IntronicSNV - 8/13
12-48285414-G-A VDR c.-83-8857C>T - intron_variant - 1/9
3-56809628-A-G ARHGEF3 c.97-1784T>C - IntronicSNV - 1/9
5-14810899-A-G ANKH c.97-41599T>C - IntronicSNV - 1/11
7-93163719-C-T CALCR c.-27+39882G>A - intron_variant - 2/13
5-14751588-T-A ANKH c.517-240A>T - IntronicSNV - 4/11
5-14751588-T-G ANKH c.517-240A>C - IntronicSNV - 4/11
6-152374532-T-C ESR1 c.1236-7594T>C - IntronicSNV - 5/7
5-14763707-C-A ANKH c.314-5000G>T - IntronicSNV - 2/11
6-152260668-A-G ESR1 c.761-4640A>G - IntronicSNV - 3/7
6-152168456-A-C ESR1 c.643+4534A>C - IntronicSNV - 2/7
6-152168456-A-T ESR1 c.643+4534A>T - IntronicSNV - 2/7
12-102827441-G-C IGF1 c.221-13973C>G - IntronicSNV - 2/3
12-102862979-C-A IGF1 c.220+6442G>T - IntronicSNV - 2/3
12-102862979-C-T IGF1 c.220+6442G>A - IntronicSNV - 2/3
12-48273714-G-C VDR c.1-818C>G - IntronicSNV - 2/9
5-14764934-G-A ANKH c.313+4150C>T - IntronicSNV - 2/11
19-41838206-G-T TGFB1 c.861-20C>A - IntronicSNV - 5/6
5-14824413-T-C ANKH c.96+47048A>G - IntronicSNV - 1/11
6-152256495-A-C ESR1 c.761-8813A>C - IntronicSNV - 3/7
6-152296986-A-G ESR1 c.1096+31343A>G - IntronicSNV - 4/7
12-48278487-G-A VDR c.-83-1930C>T - intron_variant - 1/9
14-94775737-A-T SERPINA6 c.884+336T>A - IntronicSNV - 3/4
14-94775737-A-G SERPINA6 c.884+336T>C - IntronicSNV - 3/4
7-94038934-C-T COL1A2 c.936+14C>T - IntronicSNV - 18/51
6-152139886-T-C ESR1 c.452+10387T>C - IntronicSNV - 1/7
12-48282437-G-A VDR c.1-9541C>T - IntronicSNV - 1/9
6-152376182-G-C ESR1 c.1236-5944G>C - IntronicSNV - 5/7
11-68174189-G-A LRP5 c.1999G>A p.Val667Met Missense 9/23 -
11-68174189-G-C LRP5 c.1999G>C p.Val667Leu Missense 9/23 -
19-41838206-G-A TGFB1 c.861-20C>T - IntronicSNV - 5/6
19-41838206-G-C TGFB1 c.861-20C>G - IntronicSNV - 5/6
7-94033031-T-C COL1A2 c.280-837T>C - IntronicSNV - 6/51
12-48255570-G-A VDR c.277+3260C>T - IntronicSNV - 4/9
12-48257766-T-C VDR c.277+1064A>G - IntronicSNV - 4/9
5-14742986-A-G ANKH c.916-955T>C - IntronicSNV - 7/11
5-14824172-T-G ANKH c.96+47289A>C - IntronicSNV - 1/11
6-152320172-T-G ESR1 c.1097-12619T>G - IntronicSNV - 4/7
12-102827045-G-A IGF1 c.221-13577C>T - IntronicSNV - 2/3
5-14760607-C-T ANKH c.314-1900G>A - IntronicSNV - 2/11
5-142727193-G-A NR3C1 c.1185-33460C>T - IntronicSNV - 2/8
7-22769164-T-C IL6 c.356T>C p.Leu119Pro Missense 4/5 -
6-152237468-T-C ESR1 c.761-27840T>C - IntronicSNV - 3/7
7-93192710-T-C CALCR c.-27+10891A>G - intron_variant - 2/13
5-14791950-C-G ANKH c.97-22650G>C - IntronicSNV - 1/11
6-152129077-T-C ESR1 c.30T>C p.Ser10Ser Synonymous 1/8 -
5-14840668-T-C ANKH c.96+30793A>G - IntronicSNV - 1/11
7-94056044-G-T COL1A2 c.3105+202G>T - IntronicSNV - 46/51
5-14811645-A-T ANKH c.97-42345T>A - IntronicSNV - 1/11
14-94776401-T-C SERPINA6 c.614-58A>G - IntronicSNV - 2/4
12-48254676-G-A VDR c.278-3205C>T - IntronicSNV - 4/9
5-14852610-T-C ANKH c.96+18851A>G - IntronicSNV - 1/11
12-48253356-A-G VDR c.278-1885T>C - IntronicSNV - 4/9
5-142722660-G-C NR3C1 c.1185-28927C>G - IntronicSNV - 2/8
5-14847331-G-A ANKH c.96+24130C>T - IntronicSNV - 1/11
5-14765187-G-A ANKH c.313+3897C>T - IntronicSNV - 2/11
7-94048482-G-A COL1A2 c.2026-328G>A - IntronicSNV - 33/51
5-142756004-A-G NR3C1 c.1184+23217T>C - IntronicSNV - 2/8
7-94039187-A-G COL1A2 c.1035+54A>G - IntronicSNV - 19/51
17-48274291-T-G COL1A1 c.804+80A>C - IntronicSNV - 11/50
7-93073372-T-G CALCR c.649-303A>C - IntronicSNV - 8/13
7-94033112-C-G COL1A2 c.280-756C>G - IntronicSNV - 6/51
6-152162227-G-A ESR1 c.453-1505G>A - IntronicSNV - 1/7
6-152162227-G-T ESR1 c.453-1505G>T - IntronicSNV - 1/7
12-102853172-T-C IGF1 c.220+16249A>G - IntronicSNV - 2/3
5-142697295-A-T NR3C1 c.1185-3562T>A - IntronicSNV - 2/8
6-152199931-G-A ESR1 c.644-1859G>A - IntronicSNV - 2/7
5-14791950-C-T ANKH c.97-22650G>A - IntronicSNV - 1/11
7-94033112-C-T COL1A2 c.280-756C>T - IntronicSNV - 6/51
12-102838515-C-T IGF1 c.221-25047G>A - IntronicSNV - 2/3
7-93197732-G-C CALCR c.-27+5869C>G - intron_variant - 2/13
5-14816622-T-C ANKH c.97-47322A>G - IntronicSNV - 1/11
7-93074519-G-A CALCR c.649-1450C>T - IntronicSNV - 8/13
7-93074519-G-C CALCR c.649-1450C>G - IntronicSNV - 8/13
7-93066748-T-C CALCR c.930+624A>G - IntronicSNV - 11/13
20-6759980-A-C BMP2 c.*244A>C - 3-UTRSNV 3/3 -
20-6759980-A-T BMP2 c.*244A>T - 3-UTRSNV 3/3 -
5-14749128-C-T ANKH c.822+153G>A - IntronicSNV - 6/11
12-102867667-G-A IGF1 c.220+1754C>T - IntronicSNV - 2/3
12-48294626-C-T VDR c.-84+4112G>A - intron_variant - 1/9
17-48262775-A-T COL1A1 c.*88T>A - 3-UTRSNV 51/51 -
7-94045576-G-A COL1A2 c.1765-141G>A - IntronicSNV - 30/51
7-94045576-G-T COL1A2 c.1765-141G>T - IntronicSNV - 30/51
14-94772504-G-A SERPINA6 c.936C>T p.Leu312Leu Synonymous 4/5 -
7-94056244-C-G COL1A2 c.3106-76C>G - IntronicSNV - 46/51
7-93201902-C-T CALCR c.-27+1699G>A - intron_variant - 2/13
5-14753764-G-A ANKH c.516+2206C>T - IntronicSNV - 4/11
7-93071425-T-A CALCR c.802+1491A>T - IntronicSNV - 9/13
14-94772504-G-T SERPINA6 c.936C>A p.Leu312Leu Synonymous 4/5 -
7-94056244-C-A COL1A2 c.3106-76C>A - IntronicSNV - 46/51
7-94056244-C-T COL1A2 c.3106-76C>T - IntronicSNV - 46/51
5-14750823-T-C ANKH c.687+355A>G - IntronicSNV - 5/11
6-152193996-C-T ESR1 c.644-7794C>T - IntronicSNV - 2/7
7-93199574-A-G CALCR c.-27+4027T>C - intron_variant - 2/13
7-22767433-A-G IL6 c.210+180A>G - IntronicSNV - 2/4
17-48267291-G-C COL1A1 c.2560-18C>G - IntronicSNV - 36/50
12-102866638-T-C IGF1 c.220+2783A>G - IntronicSNV - 2/3
14-94773411-C-T SERPINA6 c.885-856G>A - IntronicSNV - 3/4
7-94056044-G-A COL1A2 c.3105+202G>A - IntronicSNV - 46/51
17-48274291-T-A COL1A1 c.804+80A>T - IntronicSNV - 11/50
7-22771038-A-T IL6 c.485A>T p.Asp162Val Missense 5/5 -
12-48255411-T-C VDR c.277+3419A>G - IntronicSNV - 4/9
12-48242256-A-G VDR c.756-1665T>C - IntronicSNV - 7/9
12-48242256-A-T VDR c.756-1665T>A - IntronicSNV - 7/9
5-14776897-C-T ANKH c.97-7597G>A - IntronicSNV - 1/11
6-152229850-G-A ESR1 c.760+27944G>A - IntronicSNV - 3/7
7-94032753-A-C COL1A2 c.280-1115A>C - IntronicSNV - 6/51
7-94032753-A-G COL1A2 c.280-1115A>G - IntronicSNV - 6/51
11-46897446-G-A LRP4 c.3608C>T p.Ala1203Val Missense 26/38 -
11-68088831-G-T LRP5 c.91+8558G>T - IntronicSNV - 1/22
7-93106544-T-C CALCR c.316+326A>G - IntronicSNV - 5/13
7-93063844-A-T CALCR c.1150-238T>A - IntronicSNV - 12/13
5-14840935-G-C ANKH c.96+30526C>G - IntronicSNV - 1/11
12-48289355-G-A VDR c.-84+9383C>T - intron_variant - 1/9
7-93059879-C-T CALCR c.1191+3686G>A - IntronicSNV - 13/13
6-152283279-G-A ESR1 c.1096+17636G>A - IntronicSNV - 4/7
7-93137448-A-G CALCR c.1-21155T>C - IntronicSNV - 2/13
7-94052663-G-A COL1A2 c.2565+233G>A - IntronicSNV - 40/51
7-93061227-A-G CALCR c.1191+2338T>C - IntronicSNV - 13/13
5-14778494-T-A ANKH c.97-9194A>T - IntronicSNV - 1/11
5-14835599-A-G ANKH c.96+35862T>C - IntronicSNV - 1/11
5-14765106-C-T ANKH c.313+3978G>A - IntronicSNV - 2/11
5-14780298-C-T ANKH c.97-10998G>A - IntronicSNV - 1/11
3-56826324-A-C ARHGEF3 c.96+9407T>G - IntronicSNV - 1/9
12-102844236-G-C IGF1 c.220+25185C>G - IntronicSNV - 2/3
7-93178802-C-T CALCR c.-27+24799G>A - intron_variant - 2/13
5-142661842-G-C NR3C1 c.2182-236C>G - IntronicSNV - 8/8
12-48283625-G-A VDR c.1-10729C>T - IntronicSNV - 1/9
12-102827045-G-C IGF1 c.221-13577C>G - IntronicSNV - 2/3
6-152282325-T-C ESR1 c.1096+16682T>C - IntronicSNV - 4/7
5-14855659-G-T ANKH c.96+15802C>A - IntronicSNV - 1/11
12-102803893-A-T IGF1 c.403-7549T>A - IntronicSNV - 3/3
6-152237618-G-T ESR1 c.761-27690G>T - IntronicSNV - 3/7
5-14802066-A-G ANKH c.97-32766T>C - IntronicSNV - 1/11
5-142679397-C-T NR3C1 c.1747+653G>A - IntronicSNV - 5/8
12-48257326-C-T VDR c.277+1504G>A - IntronicSNV - 4/9
7-93098761-G-A CALCR c.430-643C>T - IntronicSNV - 6/13
7-94037034-A-G COL1A2 c.595-125A>G - IntronicSNV - 12/51
5-14830512-T-C ANKH c.96+40949A>G - IntronicSNV - 1/11
6-152162317-C-G ESR1 c.453-1415C>G - IntronicSNV - 1/7
6-152412137-T-C ESR1 c.1370-3383T>C - IntronicSNV - 6/7
7-93055753-A-G CALCR c.1340T>C p.Leu447Pro Missense 14/14 -
5-14860723-G-A ANKH c.96+10738C>T - IntronicSNV - 1/11
12-48273714-G-A VDR c.1-818C>T - IntronicSNV - 2/9
7-93073372-T-A CALCR c.649-303A>T - IntronicSNV - 8/13
6-152291366-G-C ESR1 c.1096+25723G>C - IntronicSNV - 4/7
5-14814883-A-G ANKH c.97-45583T>C - IntronicSNV - 1/11
5-14790150-G-C ANKH c.97-20850C>G - IntronicSNV - 1/11
6-152162317-C-T ESR1 c.453-1415C>T - IntronicSNV - 1/7
14-94773450-C-T SERPINA6 c.885-895G>A - IntronicSNV - 3/4
6-152421130-T-C ESR1 c.*1029T>C - 3-UTRSNV 8/8 -
6-152157881-C-T ESR1 c.453-5851C>T - IntronicSNV - 1/7
6-152140042-A-G ESR1 c.452+10543A>G - IntronicSNV - 1/7
5-142693398-T-C NR3C1 c.1351+169A>G - IntronicSNV - 3/8
7-94045166-C-T COL1A2 c.1765-551C>T - IntronicSNV - 30/51
17-48262775-A-G COL1A1 c.*88T>C - 3-UTRSNV 51/51 -
17-48262775-A-C COL1A1 c.*88T>G - 3-UTRSNV 51/51 -
5-14759246-C-T ANKH c.314-539G>A - IntronicSNV - 2/11
6-152339615-A-G ESR1 c.1235+6686A>G - IntronicSNV - 5/7
6-152129077-T-A ESR1 c.30T>A p.Ser10Ser Synonymous 1/8 -
6-152168456-A-G ESR1 c.643+4534A>G - IntronicSNV - 2/7
20-6754246-G-A BMP2 c.346+3127G>A - IntronicSNV - 2/2
14-94789495-C-A SERPINA6 c.-20+109G>T - intron_variant - 1/4
14-94789495-C-G SERPINA6 c.-20+109G>C - intron_variant - 1/4
7-94046541-G-T COL1A2 c.1864-495G>T - IntronicSNV - 31/51
17-48265426-A-G COL1A1 c.3261+31T>C - IntronicSNV - 44/50
7-93078060-T-C CALCR c.649-4991A>G - IntronicSNV - 8/13
6-152418575-T-C ESR1 c.1554-1292T>C - IntronicSNV - 7/7
6-152418575-T-A ESR1 c.1554-1292T>A - IntronicSNV - 7/7
14-94789117-A-G SERPINA6 c.-20+487T>C - intron_variant - 1/4
7-22768707-T-G IL6 c.324+282T>G - IntronicSNV - 3/4
7-22768707-T-A IL6 c.324+282T>A - IntronicSNV - 3/4
5-14747247-C-T ANKH c.823-1176G>A - IntronicSNV - 6/11
5-14755632-A-C ANKH c.516+338T>G - IntronicSNV - 4/11
6-152157122-G-A ESR1 c.453-6610G>A - IntronicSNV - 1/7
6-152399493-C-T ESR1 c.1370-16027C>T - IntronicSNV - 6/7
12-48296268-C-T VDR c.-84+2470G>A - intron_variant - 1/9
12-102844236-G-A IGF1 c.220+25185C>T - IntronicSNV - 2/3
14-94776401-T-G SERPINA6 c.614-58A>C - IntronicSNV - 2/4
11-68201295-C-T LRP5 c.3989C>T p.Ala1330Val Missense 18/23 -
5-14765662-C-T ANKH c.313+3422G>A - IntronicSNV - 2/11
7-93079627-T-C CALCR c.649-6558A>G - IntronicSNV - 8/13
5-14869709-A-G ANKH c.96+1752T>C - IntronicSNV - 1/11
5-142700856-G-C NR3C1 c.1185-7123C>G - IntronicSNV - 2/8
5-14767870-T-A ANKH c.313+1214A>T - IntronicSNV - 2/11
5-14767870-T-C ANKH c.313+1214A>G - IntronicSNV - 2/11
12-102803893-A-C IGF1 c.403-7549T>G - IntronicSNV - 3/3
6-152320172-T-A ESR1 c.1097-12619T>A - IntronicSNV - 4/7
7-93074519-G-T CALCR c.649-1450C>A - IntronicSNV - 8/13
6-150075273-T-C PCMT1 c.229+4181T>C - IntronicSNV - 1/7
5-14763786-G-T ANKH c.314-5079C>A - IntronicSNV - 2/11
7-94025924-A-G COL1A2 c.71-1136A>G - IntronicSNV - 1/51
5-14794868-C-T ANKH c.97-25568G>A - IntronicSNV - 1/11
5-14797660-A-G ANKH c.97-28360T>C - IntronicSNV - 1/11
20-6750882-T-G BMP2 c.109T>G p.Ser37Ala Missense 2/3 -
20-6750882-T-C BMP2 c.109T>C p.Ser37Pro Missense 2/3 -
12-102857263-T-C IGF1 c.220+12158A>G - IntronicSNV - 2/3
7-22771039-T-C IL6 c.486T>C p.Asp162Asp Synonymous 5/5 -
7-22771039-T-A IL6 c.486T>A p.Asp162Glu Missense 5/5 -
12-48253356-A-T VDR c.278-1885T>A - IntronicSNV - 4/9
6-152389999-A-G ESR1 c.1369+7740A>G - IntronicSNV - 6/7
6-152358179-T-C ESR1 c.1236-23947T>C - IntronicSNV - 5/7
5-14788025-C-T ANKH c.97-18725G>A - IntronicSNV - 1/11
7-94058395-T-C COL1A2 c.3712-105T>C - IntronicSNV - 50/51
5-142726170-C-T NR3C1 c.1185-32437G>A - IntronicSNV - 2/8
7-93191405-T-C CALCR c.-27+12196A>G - intron_variant - 2/13
3-56823366-A-G ARHGEF3 c.96+12365T>C - IntronicSNV - 1/9
5-14807020-C-T ANKH c.97-37720G>A - IntronicSNV - 1/11
12-102856647-A-G IGF1 c.220+12774T>C - IntronicSNV - 2/3
7-94059317-G-A COL1A2 c.3955-242G>A - IntronicSNV - 51/51
5-14824413-T-A ANKH c.96+47048A>T - IntronicSNV - 1/11
6-152199359-T-C ESR1 c.644-2431T>C - IntronicSNV - 2/7
6-152263360-A-G ESR1 c.761-1948A>G - IntronicSNV - 3/7
7-93192036-T-C CALCR c.-27+11565A>G - intron_variant - 2/13
7-93093058-C-T CALCR c.522-2799G>A - IntronicSNV - 7/13
7-22767433-A-T IL6 c.210+180A>T - IntronicSNV - 2/4
6-152279213-G-A ESR1 c.1096+13570G>A - IntronicSNV - 4/7
12-48280665-C-A VDR c.-83-4108G>T - intron_variant - 1/9
12-48295488-T-A VDR c.-84+3250A>T - intron_variant - 1/9
14-94772504-G-C SERPINA6 c.936C>G p.Leu312Leu Synonymous 4/5 -
6-152307261-G-A ESR1 c.1097-25530G>A - IntronicSNV - 4/7
6-152177529-G-A ESR1 c.643+13607G>A - IntronicSNV - 2/7
5-14790150-G-A ANKH c.97-20850C>T - IntronicSNV - 1/11
6-152282325-T-A ESR1 c.1096+16682T>A - IntronicSNV - 4/7
6-152183551-G-A ESR1 c.644-18239G>A - IntronicSNV - 2/7
17-48267291-G-T COL1A1 c.2560-18C>A - IntronicSNV - 36/50
7-22768572-C-G IL6 c.324+147C>G - IntronicSNV - 3/4
6-152175357-T-C ESR1 c.643+11435T>C - IntronicSNV - 2/7
12-102793569-C-T IGF1 c.*2716G>A - 3-UTRSNV 4/4 -
6-152130918-A-G ESR1 c.452+1419A>G - IntronicSNV - 1/7
12-48280665-C-G VDR c.-83-4108G>C - intron_variant - 1/9
7-93071425-T-C CALCR c.802+1491A>G - IntronicSNV - 9/13
17-48267291-G-A COL1A1 c.2560-18C>T - IntronicSNV - 36/50
6-152412904-G-T ESR1 c.1370-2616G>T - IntronicSNV - 6/7
14-94776632-G-A SERPINA6 c.614-289C>T - IntronicSNV - 2/4
14-94788341-C-T SERPINA6 c.-20+1263G>A - intron_variant - 1/4
6-152234900-A-G ESR1 c.761-30408A>G - IntronicSNV - 3/7
7-93071425-T-G CALCR c.802+1491A>C - IntronicSNV - 9/13
12-102810269-T-C IGF1 c.402+3018A>G - IntronicSNV - 3/3
17-48263903-A-G COL1A1 c.3815-35T>C - IntronicSNV - 48/50
12-48280665-C-T VDR c.-83-4108G>A - intron_variant - 1/9
7-93087544-G-A CALCR c.648+2589C>T - IntronicSNV - 8/13