Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs6993770
rs6993770
ZFPM2 ; ZFPM2-AS1
9 0.925 0.080 8 105569300 intron variant A/T snv 0.31 0.700 1.000 1 2016 2016
dbSNP: rs7539542
rs7539542
ADIPOR1
9 0.807 0.200 1 202940846 3 prime UTR variant G/C snv 0.58 0.700 1.000 1 2016 2016
dbSNP: rs1613662
rs1613662
GP6 ; LOC107985325
8 0.851 0.120 19 55025227 missense variant G/A snv 0.85 0.83 0.700 1.000 1 2016 2016
dbSNP: rs342293
rs342293
CTB-30L5.1
7 0.882 0.040 7 106731773 intron variant C/G snv 0.42 0.800 1.000 7 2009 2019
dbSNP: rs216311
rs216311
VWF
7 0.882 0.040 12 6019277 missense variant T/A;C snv 4.0E-06; 0.69 0.700 1.000 1 2016 2016
dbSNP: rs11082304
rs11082304
CABLES1
6 18 23141009 intron variant G/C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs11553699
rs11553699
RHOF ; TMEM120B
6 12 121779004 3 prime UTR variant A/G snv 9.4E-02 0.700 1.000 1 2016 2016
dbSNP: rs1434282
rs1434282
LINC01221
6 1 199041592 non coding transcript exon variant C/T snv 0.76 0.700 1.000 1 2016 2016
dbSNP: rs6065
rs6065
CHRNE ; GP1BA
6 0.851 0.280 17 4933086 missense variant C/T snv 9.8E-02 0.13 0.700 1.000 1 2012 2012
dbSNP: rs114694170
rs114694170
MEF2C ; MEF2C-AS1
5 1.000 0.040 5 88884379 non coding transcript exon variant T/C snv 3.6E-02 0.700 1.000 1 2016 2016
dbSNP: rs11627485
rs11627485
FNTB ; MAX ; CHURC1-FNTB
5 14 65020976 intron variant T/C snv 0.36 0.700 1.000 1 2016 2016
dbSNP: rs13412535
rs13412535
SERPINE2
5 2 224010157 intron variant G/A snv 0.17 0.700 1.000 1 2016 2016
dbSNP: rs1569419
rs1569419
PRDM16
5 1 3080038 intron variant T/C snv 0.73 0.700 1.000 1 2016 2016
dbSNP: rs34651
rs34651
TNPO1
5 1.000 0.040 5 72848178 non coding transcript exon variant C/T snv 0.94 0.700 1.000 1 2016 2016
dbSNP: rs7394579
rs7394579
FADS1 ; FADS2
5 1.000 0.080 11 61813978 intron variant A/G snv 0.22 0.700 1.000 1 2016 2016
dbSNP: rs78909033
rs78909033
RNPEPL1
5 2 240571486 intron variant G/A snv 9.2E-02 0.700 1.000 1 2016 2016
dbSNP: rs7896518
rs7896518
JMJD1C
5 10 63344740 intron variant A/G snv 0.38 0.700 1.000 1 2012 2012
dbSNP: rs9402686
rs9402686
LOC105378010
5 6 135106679 upstream gene variant G/A snv 0.20 0.700 1.000 1 2012 2012
dbSNP: rs1354034
rs1354034
ARHGEF3
4 3 56815721 intron variant T/C snv 0.49 0.800 1.000 4 2011 2019
dbSNP: rs10761741
rs10761741
JMJD1C
4 1.000 0.040 10 63306426 intron variant G/T snv 0.38 0.700 1.000 1 2016 2016
dbSNP: rs56043070
rs56043070
GCSAML
4 1 247556467 splice donor variant G/A;T snv 5.2E-02; 4.1E-06 0.700 1.000 1 2016 2016
dbSNP: rs6141
rs6141
THPO
4 0.925 0.080 3 184372478 3 prime UTR variant C/G;T snv 4.0E-06; 0.56 0.700 1.000 1 2012 2012
dbSNP: rs74847330
rs74847330
ARHGAP15
4 2 143074030 intergenic variant A/G snv 8.8E-02 0.700 1.000 1 2016 2016
dbSNP: rs10914144
rs10914144
DNM3
3 1 171980610 intron variant T/C snv 0.78 0.800 1.000 4 2009 2014
dbSNP: rs11071720
rs11071720
TPM1 ; TPM1-AS
3 15 63049797 intron variant T/C;G snv 0.800 1.000 3 2009 2016