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: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2011 2011
dbSNP: rs4326755
rs4326755
TRPC6
1 1.000 0.120 11 101578627 intron variant G/A snv 0.48 0.010 < 0.001 1 2010 2010
dbSNP: rs4664308
rs4664308
PLA2R1 ; LOC105373717
4 0.851 0.160 2 160060986 intron variant A/G snv 0.30 0.800 1.000 1 2011 2011
dbSNP: rs652888
rs652888
CYP21A2 ; EHMT2 ; EHMT2-AS1 ; LOC107986588
10 0.776 0.480 6 31883457 non coding transcript exon variant A/G snv 0.18 0.20 0.700 1.000 1 2011 2011
dbSNP: rs7750641
rs7750641
TCF19
6 0.807 0.360 6 31161533 missense variant C/T snv 7.0E-02 7.6E-02 0.700 1.000 1 2011 2011
dbSNP: rs7775397
rs7775397
TSBP1 ; TSBP1-AS1
7 0.790 0.400 6 32293475 missense variant T/G snv 6.0E-02 6.4E-02 0.700 1.000 1 2011 2011
dbSNP: rs9267522
rs9267522
PRRC2A
1 1.000 0.120 6 31635993 synonymous variant A/G snv 0.700 1.000 1 2011 2011
dbSNP: rs9272729
rs9272729
HLA-DQA1 ; HLA-DQA2 ; LOC107986589
1 1.000 0.120 6 32641817 intron variant G/A;C snv 0.710 1.000 1 2017 2017