PMID: 27107574

Impact of polymorphisms in microRNA biogenesis genes on colon cancer risk and microRNA expression levels: a population-based, case-control study.

BMC medical genomics
LE Mullany, JS Herrick, RK Wolff, MF Buas, ML Slattery
2016-04-23

230 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-206896622-C-A MAPKAPK2 c.280-5433C>A - IntronicSNV - 1/9
8-141559729-C-G AGO2 c.1404-332G>C - IntronicSNV - 11/18
8-141559729-C-T AGO2 c.1404-332G>A - IntronicSNV - 11/18
1-154559598-T-C ADAR c.3020-759A>G - IntronicSNV - 11/14
8-141642392-G-A AGO2 c.22+3192C>T - IntronicSNV - 1/18
5-31446716-T-A DROSHA c.2882+1938A>T - IntronicSNV - 22/34
5-31446716-T-C DROSHA c.2882+1938A>G - IntronicSNV - 22/34
8-141551407-G-A AGO2 c.1890C>T p.Arg630Arg Synonymous 15/19 -
5-31518912-T-G DROSHA c.947+2318A>C - IntronicSNV - 5/34
1-206890138-A-G MAPKAPK2 c.280-11917A>G - IntronicSNV - 1/9
20-6759115-A-G BMP2 c.570A>G p.Arg190Arg Synonymous 3/3 -
8-141554959-A-G AGO2 c.1749-557T>C - IntronicSNV - 13/18
8-141541888-C-T AGO2 c.*255G>A - 3-UTRSNV 19/19 -
5-31416248-A-G DROSHA c.3525+5131T>C - IntronicSNV - 29/34
8-141622537-C-T AGO2 c.22+23047G>A - IntronicSNV - 1/18
18-48586344-C-T SMAD4 c.955+58C>T - IntronicSNV - 8/11
3-119542190-G-A GSK3B c.*3445C>T - 3-UTRSNV 11/11 -
3-119542190-G-C GSK3B c.*3445C>G - 3-UTRSNV 11/11 -
22-40368229-T-C GRAP2 c.*1141T>C - IntergenicSNV 8/8 -
2-179301884-A-G PRKRA c.610-838T>C - IntronicSNV - 6/7
10-91065949-A-G IFIT2 c.236A>G p.Glu79Gly Missense 2/2 -
5-31511106-G-A DROSHA c.1432+36C>T - IntronicSNV - 8/34
5-31439859-G-A DROSHA c.2883-2454C>T - IntronicSNV - 22/34
5-31439859-G-C DROSHA c.2883-2454C>G - IntronicSNV - 22/34
4-81967150-G-A BMP3 c.575G>A p.Arg192Gln Missense 2/3 -
5-31401447-A-T DROSHA c.*92T>A - 3-UTRSNV 35/35 -
5-31401447-A-G DROSHA c.*92T>C - 3-UTRSNV 35/35 -
6-43490947-T-G XPO5 c.*659A>C - 3-UTRSNV 32/32 -
10-91065949-A-T IFIT2 c.236A>T p.Glu79Val Missense 2/2 -
10-91065949-A-C IFIT2 c.236A>C p.Glu79Ala Missense 2/2 -
4-24578097-C-A DHX15 c.276G>T p.Thr92Thr Synonymous 2/14 -
22-22136398-T-G MAPK1 c.856+6148A>C - IntronicSNV - 6/8
17-643426-G-A FAM57A c.409-319G>A - IntronicSNV - 3/4
11-108747224-A-T DDX10 c.2304+24288A>T - IntronicSNV - 16/17
11-108747224-A-G DDX10 c.2304+24288A>G - IntronicSNV - 16/17
5-31491121-G-A DROSHA c.1842+2193C>T - IntronicSNV - 12/34
22-20079603-A-G DGCR8 c.1606+110A>G - IntronicSNV - 7/12
6-43496662-A-C XPO5 c.2679T>G p.Arg893Arg Synonymous 24/32 -
22-20099406-G-C TRMT2A c.*680C>G - 3-UTRSNV 12/12 -
22-20081852-T-C DGCR8 c.1607-384T>C - IntronicSNV - 7/12
19-41858876-C-G TGFB1 c.74G>C p.Arg25Pro Missense 1/7 -
20-6759115-A-T BMP2 c.570A>T p.Arg190Ser Missense 3/3 -
1-206902471-G-A MAPKAPK2 c.484+27G>A - IntronicSNV - 3/9
5-31428613-G-T DROSHA c.3216+969C>A - IntronicSNV - 26/34
14-95603219-A-C DICER1 c.1-3424T>G - IntronicSNV - 1/28
6-35549670-C-T FKBP5 c.841-1672G>A - IntronicSNV - 9/11
12-53893031-C-T MAP3K12 c.-38+180G>A - intron_variant - 1/14
19-41847860-G-A TGFB1 c.788C>T p.Thr263Ile Missense 5/7 -
1-154561925-C-A ADAR c.2682G>T p.Val894Val Synonymous 9/15 -
14-95554142-T-C DICER1 c.*2693A>G - 3-UTRSNV 29/29 -
4-24578097-C-T DHX15 c.276G>A p.Thr92Thr Synonymous 2/14 -
22-22136398-T-C MAPK1 c.856+6148A>G - IntronicSNV - 6/8
5-31487782-A-C DROSHA c.1843-1113T>G - IntronicSNV - 12/34
17-649232-C-T GEMIN4 c.2051G>A p.Arg684Gln Missense 2/2 -
1-26746327-A-G LIN28A c.229-5467A>G - IntronicSNV - 2/3
5-31520778-C-T DROSHA c.947+452G>A - IntronicSNV - 5/34
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 -
22-40452119-T-C TNRC6B c.-121+11117T>C - intron_variant - 1/23
6-30628082-A-G DHX16 c.1545-63T>C - IntronicSNV - 9/19
8-141539854-T-G AGO2 c.*2289A>C - IntergenicSNV 19/19 -
8-141572167-C-A AGO2 c.518+385G>T - IntronicSNV - 4/18
8-141572167-C-T AGO2 c.518+385G>A - IntronicSNV - 4/18
19-41860587-C-T B9D2 c.*18G>A - 3-UTRSNV 4/4 -
8-141572309-G-A AGO2 c.518+243C>T - IntronicSNV - 4/18
6-7881449-G-A BMP6 c.*873G>A - 3-UTRSNV 7/7 -
8-141555862-A-C AGO2 c.1749-1460T>G - IntronicSNV - 13/18
5-31401953-C-T DROSHA c.3995-284G>A - IntronicSNV - 34/34
22-20082074-C-T DGCR8 c.1607-162C>T - IntronicSNV - 7/12
1-26746807-G-A LIN28A c.229-4987G>A - IntronicSNV - 2/3
22-22204793-G-A MAPK1 c.119+16819C>T - IntronicSNV - 1/8
5-31401953-C-G DROSHA c.3995-284G>C - IntronicSNV - 34/34
5-31525788-C-T DROSHA c.854+398G>A - IntronicSNV - 4/34
X-147031538-C-T FMR1 c.*1174C>T - 3-UTRSNV 17/17 -
X-147031538-C-G FMR1 c.*1174C>G - 3-UTRSNV 17/17 -
6-43490809-C-T XPO5 c.*797G>A - 3-UTRSNV 32/32 -
1-26753942-T-C LIN28A c.*993T>C - 3-UTRSNV 4/4 -
5-31412462-A-C DROSHA c.3526-1468T>G - IntronicSNV - 29/34
5-31483596-G-T DROSHA c.2071+65C>A - IntronicSNV - 15/34
5-31459743-T-C DROSHA c.2574+4600A>G - IntronicSNV - 19/34
5-31428613-G-A DROSHA c.3216+969C>T - IntronicSNV - 26/34
5-31465137-G-A DROSHA c.2467-687C>T - IntronicSNV - 18/34
2-135750849-T-C MAP3K19 c.575-1699A>G - IntronicSNV - 5/9
14-54417522-A-G BMP4 c.455T>C p.Val152Ala Missense 4/4 -
6-31929014-A-C SKIV2L c.640A>C p.Met214Leu Missense 8/28 -
8-141668860-A-T PTK2 c.*705T>A - 3-UTRSNV 32/32 -
6-36076934-G-A MAPK14 c.*710G>A - 3-UTRSNV 12/12 -
14-95606794-T-C DICER1 c.1-6999A>G - IntronicSNV - 1/28
22-22115886-C-T MAPK1 c.*2653G>A - 3_prime_UTR_variant 9/9 -
22-22131125-T-G MAPK1 c.857-3854A>C - IntronicSNV - 6/8
17-1325297-A-G CRK c.*1510T>C - 3-UTRSNV 3/3 -
5-31509542-A-G DROSHA c.1433-660T>C - IntronicSNV - 8/34
5-31428028-C-T DROSHA c.3216+1554G>A - IntronicSNV - 26/34
10-91066075-A-G IFIT2 c.362A>G p.Lys121Arg Missense 2/2 -
12-31226835-T-A DDX11 c.-195T>A - 5_prime_UTR_variant 1/27 -
14-54416602-T-A BMP4 c.*148A>T - 3-UTRSNV 4/4 -
14-95553362-A-G DICER1 c.*3473T>C - 3-UTRSNV 29/29 -
1-154556040-T-G ADAR c.*1242A>C - 3-UTRSNV 15/15 -
8-141561357-C-T AGO2 c.1403+45G>A - IntronicSNV - 11/18
3-119542297-A-G GSK3B c.*3338T>C - 3-UTRSNV 11/11 -
22-40454069-T-C TNRC6B c.-121+13067T>C - intron_variant - 1/23
22-40454069-T-G TNRC6B c.-121+13067T>G - intron_variant - 1/23
2-179314359-G-A PRKRA c.235+610C>T - IntronicSNV - 2/7
2-179314359-G-C PRKRA c.235+610C>G - IntronicSNV - 2/7
22-20071737-T-C DGCR8 c.1-1750T>C - IntronicSNV - 1/12
16-24578458-T-A RBBP6 c.1590-6T>A - IntronicSNV - 14/17
16-24578458-T-C RBBP6 c.1590-6T>C - IntronicSNV - 14/17
22-20100596-T-C TRMT2A c.1549+45A>G - IntronicSNV - 10/11
22-20100596-T-A TRMT2A c.1549+45A>T - IntronicSNV - 10/11
22-40368608-G-A GRAP2 c.*1520G>A - IntergenicSNV 8/8 -
8-141595023-G-A AGO2 c.215+195C>T - IntronicSNV - 2/18
8-141568304-A-G AGO2 c.878+280T>C - IntronicSNV - 7/18
8-141582896-T-C AGO2 c.336+15A>G - IntronicSNV - 3/18
1-26744087-T-C LIN28A c.228+6014T>C - IntronicSNV - 2/3
1-26744087-T-A LIN28A c.228+6014T>A - IntronicSNV - 2/3
6-35542476-C-A FKBP5 c.*1136G>T - 3-UTRSNV 12/12 -
14-95575414-A-G DICER1 c.2257-574T>C - IntronicSNV - 16/28
1-154556425-G-A ADAR c.*857C>T - 3-UTRSNV 15/15 -
5-31437040-C-T DROSHA c.2942+306G>A - IntronicSNV - 23/34
1-112309123-C-T DDX20 c.2077C>T p.Arg693Cys Missense 11/11 -
8-141541881-C-T AGO2 c.*262G>A - 3-UTRSNV 19/19 -
20-33355046-G-A NCOA6 c.514+1221C>T - IntronicSNV - 5/14
14-95575414-A-T DICER1 c.2257-574T>A - IntronicSNV - 16/28
2-179314359-G-T PRKRA c.235+610C>A - IntronicSNV - 2/7
6-43540926-G-A XPO5 c.227+291C>T - IntronicSNV - 2/31
19-41858876-C-T TGFB1 c.74G>A p.Arg25Gln Missense 1/7 -
12-31244846-C-T DDX11 c.1242+41C>T - IntronicSNV - 10/26
22-22180183-C-T MAPK1 c.120-18048G>A - IntronicSNV - 1/8
12-31244846-C-G DDX11 c.1242+41C>G - IntronicSNV - 10/26
14-95581961-G-A DICER1 c.1907+43C>T - IntronicSNV - 13/28
6-105406274-A-C LIN28B c.198+113A>C - IntronicSNV - 2/3
5-31423007-T-C DROSHA c.3306A>G p.Pro1102Pro Synonymous 28/35 -
12-31245741-A-G DDX11 c.1243-39A>G - IntronicSNV - 10/26
8-141557880-G-A AGO2 c.1589-154C>T - IntronicSNV - 12/18
17-648157-G-A GEMIN4 c.3126C>T p.Ile1042Ile Synonymous 2/2 -
6-43492578-G-A XPO5 c.3303C>T p.Tyr1101Tyr Synonymous 30/32 -
5-31467952-A-G DROSHA c.2366+94T>C - IntronicSNV - 17/34
12-31257464-G-A DDX11 c.*694G>A - 3-UTRSNV 27/27 -
6-30628082-A-T DHX16 c.1545-63T>A - IntronicSNV - 9/19
17-648498-C-T GEMIN4 c.2785G>A p.Asp929Asn Missense 2/2 -
17-648498-C-G GEMIN4 c.2785G>C p.Asp929His Missense 2/2 -
22-20087539-A-G DGCR8 c.1689+5221A>G - IntronicSNV - 8/12
22-22129215-A-G MAPK1 c.857-1944T>C - IntronicSNV - 6/8
6-7881931-T-C BMP6 c.*1355T>C - 3-UTRSNV 7/7 -
20-33411871-A-G NCOA6 c.-164+1404T>C - intron_variant - 1/14
16-24577520-T-G RBBP6 c.1590-944T>G - IntronicSNV - 14/17
3-119542124-A-T GSK3B c.*3511T>A - 3-UTRSNV 11/11 -
8-141625045-G-A AGO2 c.22+20539C>T - IntronicSNV - 1/18
8-141569310-C-A AGO2 c.790+184G>T - IntronicSNV - 6/18
5-31492388-A-T DROSHA c.1842+926T>A - IntronicSNV - 12/34
12-2060580-A-G DCP1B c.1524+1002T>C - IntronicSNV - 7/8
5-31492388-A-G DROSHA c.1842+926T>C - IntronicSNV - 12/34
5-31443564-G-A DROSHA c.2882+5090C>T - IntronicSNV - 22/34
20-33333208-C-A NCOA6 c.2914+1403G>T - IntronicSNV - 10/14
8-141601542-T-C AGO2 c.23-6132A>G - IntronicSNV - 1/18
1-36488199-T-G AGO3 c.1407-4516T>G - IntronicSNV - 11/18
14-95563712-T-C DICER1 c.4207-662A>G - IntronicSNV - 24/28
5-31531619-A-G DROSHA c.-174+478T>C - intron_variant - 1/34
2-135777504-A-G MAP3K19 c.138+1781T>C - IntronicSNV - 2/9
1-36276399-C-T AGO4 c.19+2363C>T - IntronicSNV - 1/17
6-43526737-A-G XPO5 c.1222-409T>C - IntronicSNV - 11/31
8-141549291-A-G AGO2 c.2169+128T>C - IntronicSNV - 16/18
1-112298582-A-G DDX20 c.36A>G p.Ala12Ala Synonymous 1/11 -
5-31511106-G-T DROSHA c.1432+36C>A - IntronicSNV - 8/34
22-20098544-G-A DGCR8 c.*913G>A - 3-UTRSNV 13/13 -
5-31435627-A-C DROSHA c.3042+245T>G - IntronicSNV - 24/34
6-31936679-C-T SKIV2L c.3212C>T p.Ala1071Val Missense 26/28 -
16-24577766-T-G RBBP6 c.1590-698T>G - IntronicSNV - 14/17
6-7881311-A-G BMP6 c.*735A>G - 3-UTRSNV 7/7 -
6-31928306-A-G SKIV2L c.452A>G p.Gln151Arg Missense 5/28 -
20-6759980-A-C BMP2 c.*244A>C - 3-UTRSNV 3/3 -
20-6759980-A-T BMP2 c.*244A>T - 3-UTRSNV 3/3 -
5-31471676-G-A DROSHA c.2241+494C>T - IntronicSNV - 16/34
22-20071630-G-A DGCR8 c.1-1857G>A - IntronicSNV - 1/12
5-31444434-A-G DROSHA c.2882+4220T>C - IntronicSNV - 22/34
5-31483596-G-A DROSHA c.2071+65C>T - IntronicSNV - 15/34
17-649067-A-G GEMIN4 c.2216T>C p.Ile739Thr Missense 2/2 -
17-648157-G-C GEMIN4 c.3126C>G p.Ile1042Met Missense 2/2 -
1-26753942-T-A LIN28A c.*993T>A - 3-UTRSNV 4/4 -
14-95586136-T-C DICER1 c.1377-2045A>G - IntronicSNV - 10/28
12-2057592-A-G DCP1B c.1773+660T>C - IntronicSNV - 8/8
6-36078180-C-T MAPK14 c.*1956C>T - 3-UTRSNV 12/12 -
1-36444957-C-T AGO3 c.658+5845C>T - IntronicSNV - 5/18
5-31433647-C-T DROSHA c.3043-1862G>A - IntronicSNV - 24/34
19-41858921-G-A TGFB1 c.29C>T p.Pro10Leu Missense 1/7 -
19-41858921-G-C TGFB1 c.29C>G p.Pro10Arg Missense 1/7 -
1-154573967-T-C ADAR c.1151A>G p.Lys384Arg Missense 2/15 -
14-95594207-T-C DICER1 c.735-1122A>G - IntronicSNV - 8/28
1-112309123-C-A DDX20 c.2077C>A p.Arg693Ser Missense 11/11 -
17-649935-G-C GEMIN4 c.1348C>G p.Gln450Glu Missense 2/2 -
22-20074575-C-T DGCR8 c.721-110C>T - IntronicSNV - 2/12
5-31444434-A-C DROSHA c.2882+4220T>G - IntronicSNV - 22/34
17-648186-G-C GEMIN4 c.3097C>G p.Arg1033Gly Missense 2/2 -
17-648186-G-A GEMIN4 c.3097C>T p.Arg1033Cys Missense 2/2 -
14-95619101-C-T DICER1 c.-213+5167G>A - intron_variant - 1/28
1-26802548-T-C HMGN2 c.*909T>C - 3-UTRSNV 6/6 -
8-141594881-T-C AGO2 c.215+337A>G - IntronicSNV - 2/18
8-141573358-G-A AGO2 c.337-625C>T - IntronicSNV - 3/18
20-6760201-T-C BMP2 c.*465T>C - 3-UTRSNV 3/3 -
8-141634540-A-G AGO2 c.22+11044T>C - IntronicSNV - 1/18
22-22115004-C-G MAPK1 c.*3535G>C - 3_prime_UTR_variant 9/9 -
1-36424985-A-G AGO3 c.192-7571A>G - IntronicSNV - 2/18
1-112302219-G-A DDX20 c.565+29G>A - IntronicSNV - 3/10
1-112302219-G-C DDX20 c.565+29G>C - IntronicSNV - 3/10
1-154564712-T-A ADAR c.2271-1827A>T - IntronicSNV - 6/14
1-206896622-C-G MAPKAPK2 c.280-5433C>G - IntronicSNV - 1/9
5-31528733-C-T DROSHA c.20+414G>A - IntronicSNV - 3/34
22-20098521-G-A DGCR8 c.*890G>A - 3-UTRSNV 13/13 -
1-154561925-C-T ADAR c.2682G>A p.Val894Val Synonymous 9/15 -
5-31485230-T-A DROSHA c.1915-161A>T - IntronicSNV - 13/34
5-31485230-T-C DROSHA c.1915-161A>G - IntronicSNV - 13/34
1-154556266-G-A ADAR c.*1016C>T - 3-UTRSNV 15/15 -
6-7882205-G-A TXNDC5 c.*1172C>T - 3-UTRSNV 10/10 -
16-30130493-C-A MAPK3 c.354-634G>T - IntronicSNV - 2/6
14-95556747-A-T DICER1 c.*88T>A - 3-UTRSNV 29/29 -
8-141577522-C-T AGO2 c.337-4789G>A - IntronicSNV - 3/18
5-31533691-G-A C5orf22 c.82-688G>A - IntronicSNV - 1/8
8-141644176-A-G AGO2 c.22+1408T>C - IntronicSNV - 1/18
8-141584017-C-T AGO2 c.216-986G>A - IntronicSNV - 2/18
1-26756209-G-T LIN28A c.*3260G>T - 3-UTRSNV 4/4 -
1-112308953-T-C DDX20 c.1907T>C p.Ile636Thr Missense 11/11 -
12-131361241-C-T RAN c.*770C>T - IntergenicSNV 7/7 -
5-31424761-T-C DROSHA c.3217-183A>G - IntronicSNV - 26/34
17-649935-G-T GEMIN4 c.1348C>A p.Gln450Lys Missense 2/2 -
5-31541142-G-T C5orf22 c.870+24G>T - IntronicSNV - 5/8
1-26756209-G-A LIN28A c.*3260G>A - 3-UTRSNV 4/4 -
11-108709772-T-A DDX10 c.2085+480T>A - IntronicSNV - 14/17
17-653818-G-T GEMIN4 c.10+1555C>A - IntronicSNV - 1/1
12-53901105-G-A NPFF c.102+52C>T - IntronicSNV - 1/2
17-62496670-A-C DDX5 c.1438T>G p.Ser480Ala Missense 12/13 -