PMID: 31134135

Pleiotropic Meta-Analysis of Age-Related Phenotypes Addressing Evolutionary Uncertainty in Their Molecular Mechanisms.

Frontiers in genetics
AM Kulminski, Y Loika, J Huang, KG Arbeev, O Bagley, S Ukraintseva, AI Yashin, I Culminskaya
2019

243 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
6-161145246-A-C PLG c.1256+1647A>C - IntronicSNV - 10/18
8-73928452-C-T TERF1 c.415+2227C>T - IntronicSNV - 2/9
3-71055582-A-C FOXP1 c.975-5372T>G - IntronicSNV - 12/20
1-237404593-C-T RYR2 c.49-29204C>T - IntronicSNV - 1/104
1-237404593-C-A RYR2 c.49-29204C>A - IntronicSNV - 1/104
2-162916413-G-T DPP4 c.95-12402C>A - IntronicSNV - 2/25
11-41046172-C-A LRRC4C c.-326-376344G>T - intron_variant - 1/4
2-211513685-C-A CPS1 c.3404+421C>A - intron_variant - 28/38
1-169500178-G-C F5 c.5054C>G p.Thr1685Ser Missense 15/25 -
12-2178661-C-T CACNA1C c.49+15884C>T - IntronicSNV - 1/46
19-49459685-G-T BAX c.222+95G>T - IntronicSNV - 3/4
6-151258311-G-A MTHFD1L c.1393+235G>A - IntronicSNV - 12/27
19-49459685-G-A BAX c.222+95G>A - IntronicSNV - 3/4
2-66716592-C-T MEIS1 c.743-22689C>T - IntronicSNV - 7/12
7-55247442-A-T EGFR c.2284-1544A>T - IntronicSNV - 19/27
22-46608235-T-C PPARA c.209-2835T>C - IntronicSNV - 3/7
6-32147761-T-A RNF5 c.328-25T>A - IntronicSNV - 4/5
17-7530504-G-A SAT2 c.159C>T p.His53His Synonymous 3/6 -
15-51514572-G-T CYP19A1 c.602C>A p.Thr201Lys Missense 5/10 -
3-195796574-A-T TFRC c.688-135T>A - IntronicSNV - 6/18
22-46630634-G-C PPARA c.1160-396G>C - IntronicSNV - 7/7
6-31707730-T-C MSH5 c.-281T>C - 5_prime_UTR_variant 1/25 -
15-51514572-G-A CYP19A1 c.602C>T p.Thr201Met Missense 5/10 -
18-60819383-T-G BCL2 c.586-23391A>C - IntronicSNV - 2/2
2-46610409-C-G EPAS1 c.2461+672C>G - IntronicSNV - 15/15
12-25082263-G-T BCAT1 c.6+19598C>A - IntronicSNV - 1/10
2-162916413-G-C DPP4 c.95-12402C>G - IntronicSNV - 2/25
17-7396267-T-C POLR2A c.94-2993T>C - IntronicSNV - 1/28
2-44101884-T-C ABCG8 c.1488+262T>C - IntronicSNV - 10/12
10-84267722-T-G NRG3 c.953+149098T>G - IntronicSNV - 2/8
9-78742354-G-A PCSK5 c.1209-6671G>A - IntronicSNV - 9/36
6-5546901-C-T FARS2 c.1065+1328C>T - IntronicSNV - 5/6
6-152151965-G-A ESR1 c.453-11767G>A - IntronicSNV - 1/7
1-226555348-G-A PARP1 c.2278-39C>T - IntronicSNV - 16/22
17-40271757-G-A KAT2A c.700-21C>T - IntronicSNV - 4/17
1-237256977-T-A RYR2 c.48+51108T>A - IntronicSNV - 1/104
5-90385098-G-C ADGRV1 c.18311-12938G>C - IntronicSNV - 86/89
2-188369372-G-A TFPI c.1-877C>T - IntronicSNV - 1/7
6-21104159-G-T CDKAL1 c.1237-4473G>T - IntronicSNV - 12/15
5-90252688-A-T ADGRV1 c.17857-8544A>T - IntronicSNV - 83/89
17-9952612-T-C GAS7 c.184-29398A>G - IntronicSNV - 1/13
16-20796387-G-C ACSM3 c.1101G>C p.Lys367Asn Missense 8/14 -
15-91290366-G-T BLM c.1-257G>T - IntronicSNV - 1/21
13-110426000-G-A IRS2 c.4012+8389C>T - IntronicSNV - 1/1
1-50943370-C-G FAF1 c.1654-2019G>C - IntronicSNV - 17/18
3-30876725-T-C GADL1 c.904-952A>G - IntronicSNV - 9/14
4-120240181-C-T FABP2 c.*15G>A - 3-UTRSNV 4/4 -
10-74666065-G-A OIT3 c.545-289G>A - IntronicSNV - 3/8
21-27424038-T-C APP c.469-529A>G - IntronicSNV - 4/17
4-142594719-T-A IL15 c.-501-15256T>A - intron_variant - 2/9
12-86276347-G-A NTS c.*194G>A - 3-UTRSNV 4/4 -
10-90981650-T-A LIPA c.894+618A>T - IntronicSNV - 8/9
2-234073243-C-T INPP5D c.1474+173C>T - intron_variant - 14/27
4-142594719-T-C IL15 c.-501-15256T>C - intron_variant - 2/9
3-38665202-G-T SCN5A c.393-1222C>A - IntronicSNV - 3/27
3-38665202-G-C SCN5A c.393-1222C>G - IntronicSNV - 3/27
18-60950919-C-T BCL2 c.585+34396G>A - IntronicSNV - 2/2
17-42064987-A-C PYY c.-463+16772T>G - intron_variant - 1/6
3-10195172-T-G VHL c.*3523T>G - 3-UTRSNV 3/3 -
5-90385098-G-A ADGRV1 c.18311-12938G>A - IntronicSNV - 86/89
10-135352490-C-T CYP2E1 c.*22C>T - 3-UTRSNV 9/9 -
6-6319535-A-G F13A1 c.1-638T>C - IntronicSNV - 1/14
2-190023960-A-G COL5A2 c.97+20274T>C - IntronicSNV - 1/53
3-10195172-T-A VHL c.*3523T>A - 3-UTRSNV 3/3 -
17-9814202-C-G GAS7 c.*6343G>C - 3-UTRSNV 10/10 -
8-97597672-C-A SDC2 c.61-8036C>A - IntronicSNV - 1/4
8-97597672-C-G SDC2 c.61-8036C>G - IntronicSNV - 1/4
8-97597672-C-T SDC2 c.61-8036C>T - IntronicSNV - 1/4
1-53532535-G-C PODN c.-55-2938G>C - intron_variant - 1/10
15-48862043-G-A FBN1 c.538+26437C>T - IntronicSNV - 6/65
2-88423621-C-T FABP1 c.333+392G>A - IntronicSNV - 3/3
16-938967-A-T LMF1 c.729+4040T>A - IntronicSNV - 5/10
3-10219729-A-G IRAK2 c.277+25A>G - IntronicSNV - 2/12
7-114254728-G-A FOXP2 c.259-13867G>A - IntronicSNV - 3/16
7-151431568-G-C PRKAG2 c.466+46670C>G - IntronicSNV - 3/15
2-202264156-C-T TRAK2 c.424G>A p.Val142Ile Missense 5/16 -
8-12974607-A-C DLC1 c.38-1441T>G - IntronicSNV - 1/13
21-27438501-C-T APP c.356-12837G>A - IntronicSNV - 3/17
21-27438501-C-G APP c.356-12837G>C - IntronicSNV - 3/17
10-84420273-T-C NRG3 c.954-78060T>C - IntronicSNV - 2/8
1-162272371-C-G NOS1AP c.344+1875C>G - IntronicSNV - 4/9
1-66786000-T-C PDE4B c.635-12191T>C - IntronicSNV - 7/16
1-156092991-T-C LMNA c.357-7417T>C - IntronicSNV - 1/11
12-25073685-T-C BCAT1 c.7-18866A>G - IntronicSNV - 1/10
2-28634790-G-A FOSL2 c.463-7G>A - IntronicSNV - 3/3
12-49399132-G-C PRKAG1 c.266C>G p.Thr89Ser Missense 5/12 -
6-46609905-C-T CYP39A1 c.308G>A p.Arg103His Missense 2/12 -
6-46609905-C-A CYP39A1 c.308G>T p.Arg103Leu Missense 2/12 -
5-90228398-T-C ADGRV1 c.17857-32834T>C - IntronicSNV - 83/89
7-151431568-G-A PRKAG2 c.466+46670C>T - IntronicSNV - 3/15
15-101927073-G-A PCSK6 c.1308-2443C>T - intron_variant - 10/22
8-42186491-G-A IKBKB c.2109-151G>A - IntronicSNV - 19/20
6-151358299-T-C MTHFD1L c.2847+46T>C - IntronicSNV - 26/27
2-234073645-G-A INPP5D c.1474+575G>A - intron_variant - 14/27
6-32147761-T-C RNF5 c.328-25T>C - IntronicSNV - 4/5
1-247603463-G-A NLRP3 c.2670-3811G>A - IntronicSNV - 6/8
6-152378112-C-T ESR1 c.1236-4014C>T - IntronicSNV - 5/7
3-8786572-C-T CAV3 c.115-640C>T - IntronicSNV - 1/1
5-127761418-A-G FBN2 c.953-16926T>C - IntronicSNV - 7/64
7-22769773-G-C IL6 c.471+494G>C - IntronicSNV - 4/4
13-32894484-G-A BRCA2 c.316+1022G>A - IntronicSNV - 3/26
3-50289853-C-T GNAI2 c.186C>T p.Ser62Ser Synonymous 3/9 -
10-75768180-A-G VCL c.168+10047A>G - IntronicSNV - 1/20
2-9631340-T-C ADAM17 c.2083-60A>G - IntronicSNV - 17/18
7-73026378-C-T MLXIPL c.400+4023G>A - IntronicSNV - 2/16
7-73026378-C-A MLXIPL c.400+4023G>T - IntronicSNV - 2/16
2-211499404-G-T CPS1 c.2688-3022G>T - intron_variant - 22/38
11-102643718-G-T MMP10 c.1086C>A p.Ile362Ile Synonymous 8/10 -
19-45395619-A-G TOMM40 c.275-31A>G - IntronicSNV - 2/9
3-10330243-A-T GHRL c.225+1203T>A - IntronicSNV - 4/5
3-10330243-A-G GHRL c.225+1203T>C - IntronicSNV - 4/5
5-80871402-C-A SSBP2 c.282+39890G>T - IntronicSNV - 4/16
4-100504575-G-T MTTP c.294G>T p.Glu98Asp Missense 4/19 -
4-100504575-G-C MTTP c.294G>C p.Glu98Asp Missense 4/19 -
18-60960310-C-T BCL2 c.585+25005G>A - IntronicSNV - 2/2
18-60820299-G-T BCL2 c.586-24307C>A - IntronicSNV - 2/2
8-89216480-G-A MMP16 c.133-6945C>T - IntronicSNV - 1/9
5-90066246-T-C ADGRV1 c.12286-3757T>C - IntronicSNV - 59/89
22-46630634-G-T PPARA c.1160-396G>T - IntronicSNV - 7/7
8-11614305-A-C GATA4 c.998-139A>C - IntronicSNV - 5/6
21-27520773-G-C APP c.57+22109C>G - IntronicSNV - 1/17
6-31525912-C-T NFKBIL1 c.670C>T p.Arg224Cys Missense 4/4 -
8-11614305-A-T GATA4 c.998-139A>T - IntronicSNV - 5/6
1-94469573-G-T ABCA4 c.6147+1424C>A - IntronicSNV - 44/49
4-37896685-T-C TBC1D1 c.-94+3716T>C - intron_variant - 1/19
6-152422335-C-T ESR1 c.*2234C>T - 3-UTRSNV 8/8 -
6-107508270-T-C PDSS2 c.1041+6756A>G - IntronicSNV - 7/7
2-44043114-A-C ABCG5 c.1650-1386T>G - IntronicSNV - 11/12
2-88423510-A-G FABP1 c.333+503T>C - IntronicSNV - 3/3
2-88423510-A-T FABP1 c.333+503T>A - IntronicSNV - 3/3
11-67164495-C-T RAD9A c.873-155C>T - IntronicSNV - 9/10
17-57989860-G-A RPS6KB1 c.192-185G>A - IntronicSNV - 2/14
6-43653405-C-T MRPS18A c.112+2000G>A - IntronicSNV - 1/5
1-92163786-G-T TGFBR3 c.2288-99C>A - IntronicSNV - 14/16
2-152346979-T-C NEB c.19636A>G p.Ile6546Val Missense 148/150 -
12-48188898-C-T HDAC7 c.1173+69G>A - IntronicSNV - 10/24
11-1874404-C-T LSP1 c.30C>T p.Ala10Ala Synonymous 1/11 -
3-10278696-C-T IRAK2 c.1474-1736C>T - IntronicSNV - 11/12
19-46276056-C-A DMPK c.1233-46G>T - IntronicSNV - 9/14
22-24121378-C-T MMP11 c.113C>T p.Ala38Val Missense 2/8 -
1-186850920-T-C PLA2G4A c.116-11223T>C - IntronicSNV - 3/17
10-121196335-G-C GRK5 c.911G>C p.Arg304Pro Missense 9/16 -
10-121196335-G-A GRK5 c.911G>A p.Arg304His Missense 9/16 -
13-110407646-T-C IRS2 c.*1005A>G - 3-UTRSNV 2/2 -
8-126024143-T-G SQLE c.1204+269T>G - IntronicSNV - 7/10
7-150752982-C-G CDK5 c.313-289G>C - IntronicSNV - 5/10
8-89075226-C-T MMP16 c.1223-6720G>A - IntronicSNV - 7/9
17-10006276-G-A GAS7 c.184-83062C>T - IntronicSNV - 1/13
20-44645153-T-C MMP9 c.*146T>C - 3-UTRSNV 13/13 -
6-30658239-C-A NRM c.134-219G>T - IntronicSNV - 1/3
9-21970916-C-T CDKN2A c.442G>A p.Ala148Thr Missense 2/3 -
9-21970916-C-A CDKN2A c.442G>T p.Ala148Ser Missense 2/3 -
9-21970916-C-G CDKN2A c.442G>C p.Ala148Pro Missense 2/3 -
12-57548466-C-T LRP1 c.1209C>T p.Thr403Thr Synonymous 8/89 -
7-81375087-T-A HGF c.626-651A>T - IntronicSNV - 5/17
8-10072350-A-G MSRA c.211+6939A>G - IntronicSNV - 2/5
19-15270636-C-T NOTCH3 c.*837G>A - 3-UTRSNV 33/33 -
8-141838360-G-A PTK2 c.714+2211C>T - IntronicSNV - 8/31
1-101192142-A-G VCAM1 c.928+1696A>G - IntronicSNV - 4/8
12-122693602-T-G DIABLO c.524-478A>C - IntronicSNV - 6/6
17-42164885-G-C HDAC5 c.1782C>G p.Asp594Glu Missense 13/27 -
12-53619464-G-T RARG c.184+1682C>A - IntronicSNV - 3/9
1-12255748-G-C TNFRSF1B c.900+1073G>C - IntronicSNV - 8/9
11-68597220-G-C CPT1A c.-14+12023C>G - intron_variant - 1/18
12-48182241-A-C HDAC7 c.2125-294T>G - IntronicSNV - 18/24
15-91290366-G-C BLM c.1-257G>C - IntronicSNV - 1/21
18-60943959-A-G BCL2 c.585+41356T>C - IntronicSNV - 2/2
1-92234553-T-C TGFBR3 c.247-10246A>G - IntronicSNV - 3/16
21-43716022-G-A ABCG1 c.1806-252G>A - IntronicSNV - 14/14
5-101587374-T-G SLCO4C1 c.1470-1882A>C - IntronicSNV - 8/12
15-36950565-G-A C15orf41 c.52+459G>A - IntronicSNV - 6/11
19-6686421-C-T C3 c.3647-123G>A - IntronicSNV - 28/40
14-20876189-G-A TEP1 c.410C>T p.Thr137Met Missense 2/55 -
17-42193897-C-T HDAC5 c.22+965G>A - IntronicSNV - 2/26
9-131583170-T-G ENDOG c.611+43T>G - IntronicSNV - 2/2
9-131583170-T-C ENDOG c.611+43T>C - IntronicSNV - 2/2
9-131583170-T-A ENDOG c.611+43T>A - IntronicSNV - 2/2
2-27730940-T-C GCKR c.1337T>C p.Leu446Pro Missense 15/19 -
20-36952342-C-T BPI c.827C>T - missense_variant 8/15 -
1-150831088-C-G ARNT c.26-152G>C - IntronicSNV - 1/20
14-64887711-G-A MTHFD1 c.727+1068G>A - IntronicSNV - 8/27
20-50040086-A-G NFATC2 c.2722+8518T>C - IntronicSNV - 9/10
13-41223886-C-T FOXO1 c.630+15834G>A - IntronicSNV - 1/2
2-66797316-T-C MEIS1 c.*1076T>C - IntronicSNV - 12/12
9-35677245-A-G CA9 c.841-542A>G - IntronicSNV - 5/10
17-42338998-T-A SLC4A1 c.113A>T p.Asp38Val Missense 4/20 -
17-42338998-T-G SLC4A1 c.113A>C p.Asp38Ala Missense 4/20 -
16-50733374-G-T NOD2 c.74-25G>T - IntronicSNV - 1/11
16-50733374-G-A NOD2 c.74-25G>A - IntronicSNV - 1/11
14-94852423-A-T SERPINA1 c.1-2849T>A - IntronicSNV - 1/4
7-45957678-T-C IGFBP3 c.422-640A>G - IntronicSNV - 1/4
17-64210580-A-G APOH c.973T>C p.Cys325Arg Missense 7/8 -
17-64210580-A-C APOH c.973T>G p.Cys325Gly Missense 7/8 -
10-135352490-C-A CYP2E1 c.*22C>A - 3-UTRSNV 9/9 -
10-135352490-C-G CYP2E1 c.*22C>G - 3-UTRSNV 9/9 -
19-54306818-T-C NLRP12 c.2585+388A>G - IntronicSNV - 6/9
1-19996232-C-T HTR6 c.714+3272C>T - IntronicSNV - 1/2
16-66973381-G-A CES2 c.423+120G>A - intron_variant - 3/11
18-60814252-T-A BCL2 c.586-18260A>T - IntronicSNV - 2/2
4-25275849-T-C PI4K2B c.1273-2787T>C - IntronicSNV - 9/9
13-95784156-A-G ABCC4 c.2456-15901T>C - IntronicSNV - 19/30
9-74973471-G-A ZFAND5 c.367+863C>T - IntronicSNV - 5/6
2-28634790-G-C FOSL2 c.463-7G>C - IntronicSNV - 3/3
2-28634790-G-T FOSL2 c.463-7G>T - IntronicSNV - 3/3
3-71480210-G-T FOXP1 c.-168+62367C>A - intron_variant - 3/20
1-20304785-C-T PLA2G2A c.185+88G>A - IntronicSNV - 4/5
10-44866275-T-A CXCL12 c.*2501A>T - 3-UTRSNV 4/4 -
12-2178545-A-G CACNA1C c.49+15768A>G - IntronicSNV - 1/46
15-59964904-C-T BNIP2 c.507G>A - synonymous_variant 6/10 -
15-73637772-C-T HCN4 c.786-1623G>A - IntronicSNV - 1/7
18-60944538-T-C BCL2 c.585+40777A>G - IntronicSNV - 2/2
12-57578673-G-A LRP1 c.6238G>A p.Asp2080Asn Missense 39/89 -
11-60613357-C-T CCDC86 c.759-2040C>T - IntronicSNV - 1/3
5-37012018-G-A NIPBL c.4560+1691G>A - IntronicSNV - 21/45
1-226555348-G-T PARP1 c.2278-39C>A - IntronicSNV - 16/22
1-169551535-T-C F5 c.250+134A>G - IntronicSNV - 2/24
1-50943370-C-A FAF1 c.1654-2019G>T - IntronicSNV - 17/18
17-42164885-G-A HDAC5 c.1782C>T p.Asp594Asp Synonymous 13/27 -
1-169486946-T-C F5 c.6345+704A>G - IntronicSNV - 23/24
1-169486946-T-A F5 c.6345+704A>T - IntronicSNV - 23/24
1-169519049-T-C F5 c.1601A>G p.Gln534Arg Missense 10/25 -
1-20418096-T-C PLA2G5 c.*911T>C - 3-UTRSNV 5/5 -
5-506051-A-C SLC9A3 c.212-13865T>G - IntronicSNV - 1/16
5-506051-A-G SLC9A3 c.212-13865T>C - IntronicSNV - 1/16
7-92345357-G-A CDK6 c.537+9583C>T - IntronicSNV - 4/7
17-9814202-C-T GAS7 c.*6343G>A - 3-UTRSNV 10/10 -
1-66801495-A-G PDE4B c.747+3192A>G - IntronicSNV - 8/16
10-108544601-C-T SORCS1 c.727-8151G>A - IntronicSNV - 3/25
7-81358266-C-G HGF c.1040+655G>C - IntronicSNV - 8/17
12-25006665-A-T BCAT1 c.511-3782T>A - IntronicSNV - 5/10
12-25006665-A-G BCAT1 c.511-3782T>C - IntronicSNV - 5/10
4-25673557-C-T SLC34A2 c.1048+214C>T - IntronicSNV - 9/12
5-131410879-T-C CSF2 c.327+251T>C - IntronicSNV - 3/3
2-46559238-A-C EPAS1 c.27-14774A>C - IntronicSNV - 1/15
10-84033265-A-G NRG3 c.824-85230A>G - IntronicSNV - 1/8
19-50001385-T-C RPS11 c.353+82T>C - IntronicSNV - 4/4
17-76353793-A-G SOCS3 c.*706T>C - 3-UTRSNV 2/2 -
12-51189619-T-C ATF1 c.94-73T>C - IntronicSNV - 2/6
8-142367246-G-C GPR20 c.778C>G p.Arg260Gly Missense 2/2 -
8-142367246-G-A GPR20 c.778C>T p.Arg260Cys Missense 2/2 -
16-938967-A-G LMF1 c.729+4040T>C - IntronicSNV - 5/10
19-47939843-A-G SLC8A2 c.2110+876T>C - IntronicSNV - 8/9
2-27730940-T-G GCKR c.1337T>G p.Leu446Arg Missense 15/19 -