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: rs1413885
rs1413885
DNAJC6
3 1 65349976 intron variant C/T snv 0.72 0.700 1.000 1 2011 2011
dbSNP: rs2420371
rs2420371
F5
4 1 169522317 intron variant G/A snv 0.95 0.700 1.000 1 2012 2012
dbSNP: rs4133289
rs4133289
LINC02819
3 1 159484147 downstream gene variant C/T snv 0.16 0.700 1.000 1 2007 2007
dbSNP: rs1260326
rs1260326
GCKR
81 0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68 0.800 1.000 2 2010 2017
dbSNP: rs1799810
rs1799810
PROC
5 1.000 0.040 2 127418464 5 prime UTR variant A/T snv 0.38 0.44 0.800 1.000 2 2010 2017
dbSNP: rs4233583
rs4233583
MAP3K2
2 2 127302492 3 prime UTR variant C/A snv 0.34 0.800 1.000 2 2010 2017
dbSNP: rs4321325
rs4321325
CYP27C1
2 2 127193421 intron variant C/T snv 0.17 0.800 1.000 2 2010 2014
dbSNP: rs7580658
rs7580658
MAP3K2-DT
2 2 127401685 downstream gene variant G/A snv 0.34 0.800 1.000 2 2010 2014
dbSNP: rs1011019
rs1011019
ERCC3
2 2 127279984 intron variant A/G;T snv 0.75 0.700 1.000 1 2010 2010
dbSNP: rs1019842
rs1019842
MYO7B
2 2 127547621 intron variant T/C snv 0.86 0.700 1.000 1 2010 2010
dbSNP: rs10208529
rs10208529
C2orf16
5 0.925 0.120 2 27563321 intron variant A/T snv 0.28 0.700 1.000 1 2010 2010
dbSNP: rs10496661
rs10496661
MAP3K2
2 2 127332568 intron variant G/T snv 0.24 0.700 1.000 1 2010 2010
dbSNP: rs10803588
rs10803588
MYO7B ; LOC105373609
2 2 127570800 intron variant C/T snv 0.37 0.700 1.000 1 2010 2010
dbSNP: rs10928772
rs10928772
MYO7B
2 2 127584028 intron variant T/G snv 0.35 0.700 1.000 1 2010 2010
dbSNP: rs1158867
rs1158867
PROC
3 1.000 0.080 2 127419801 splice region variant C/T snv 0.51 0.800 1.000 1 2010 2010
dbSNP: rs1160297
rs1160297
LOC105369165
3 2 53010182 intergenic variant G/C snv 0.69 0.700 1.000 1 2007 2007
dbSNP: rs11679414
rs11679414
MAP3K2-DT
2 2 127393427 intron variant G/A snv 0.27 0.700 1.000 1 2010 2010
dbSNP: rs11680949
rs11680949
MAP3K2
2 2 127365986 intron variant C/G snv 0.25 0.700 1.000 1 2010 2010
dbSNP: rs11683427
rs11683427
CYP27C1
2 2 127198967 intron variant A/G snv 0.22 0.700 1.000 1 2010 2010
dbSNP: rs11683986
rs11683986
IWS1 ; LOC105373608
2 2 127438822 intron variant C/T snv 0.28 0.700 1.000 1 2010 2010
dbSNP: rs11691088
rs11691088
MAP3K2
2 2 127374277 non coding transcript exon variant A/G snv 0.27 0.700 1.000 1 2010 2010
dbSNP: rs11890243
rs11890243
CYP27C1
2 2 127200465 intron variant C/A;G snv 0.74 0.700 1.000 1 2010 2010
dbSNP: rs12465955
rs12465955 		2 2 127249498 non coding transcript exon variant A/G;T snv 0.700 1.000 1 2010 2010
dbSNP: rs12467476
rs12467476
ZNF512
5 0.925 0.120 2 27602848 intron variant T/C snv 0.23 0.700 1.000 1 2010 2010
dbSNP: rs12468304
rs12468304
IWS1 ; LOC105373608
2 2 127436236 3 prime UTR variant C/T snv 0.43 0.700 1.000 1 2010 2010