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: rs370479598
rs370479598
1 1.000 0.080 18 60372169 missense variant C/T snv 2.0E-05 1.4E-05 0.700 0
dbSNP: rs372794914
rs372794914
2 0.925 0.080 18 60372319 missense variant T/C snv 6.0E-05 2.8E-05 0.700 0
dbSNP: rs376439188
rs376439188
1 1.000 0.080 18 60372189 missense variant A/G snv 4.0E-06 1.4E-05 0.700 0
dbSNP: rs52804924
rs52804924
2 0.925 0.080 18 60371454 missense variant G/A;T snv 8.0E-06 0.700 0
dbSNP: rs549625604
rs549625604
13 0.752 0.280 12 76347713 frameshift variant -/A delins 6.0E-04 0.700 0
dbSNP: rs752134549
rs752134549
6 0.827 0.200 12 122517404 missense variant C/T snv 1.6E-05 7.0E-06 0.700 0
dbSNP: rs756232889
rs756232889
1 1.000 0.080 18 60371512 missense variant A/G snv 4.0E-06 1.4E-05 0.700 0
dbSNP: rs764314276
rs764314276
3 0.925 0.200 5 150375721 missense variant G/A snv 4.0E-06 0.700 0
dbSNP: rs770293321
rs770293321
1 1.000 0.080 18 60372286 stop gained GT/- delins 1.2E-05 0.700 0
dbSNP: rs772393451
rs772393451
1 1.000 0.080 18 60371601 missense variant A/T snv 1.6E-05 7.0E-06 0.700 0
dbSNP: rs80359473
rs80359473
12 0.807 0.400 13 32339288 frameshift variant GAAA/- delins 0.700 0
dbSNP: rs867593888
rs867593888
11 0.882 0.200 22 36292059 missense variant T/C snv 0.700 0
dbSNP: rs886040857
rs886040857
7 0.882 0.240 X 24076757 frameshift variant TCAA/- delins 0.700 0
dbSNP: rs942758928
rs942758928
2 1.000 0.080 18 60371854 missense variant C/T snv 8.0E-06 1.4E-05 0.700 0
dbSNP: rs13447331
rs13447331
2 0.925 0.080 18 60371970 missense variant G/A snv 1.7E-04 7.7E-05 0.810 1.000 1 2015 2015
dbSNP: rs187152753
rs187152753
1 1.000 0.080 18 60371593 missense variant C/T snv 5.6E-05 1.3E-04 0.810 1.000 1 2007 2007
dbSNP: rs10182181
rs10182181
3 1.000 0.080 2 24927427 intergenic variant A/G snv 0.57 0.800 1.000 1 2013 2013
dbSNP: rs10189761
rs10189761
4 0.882 0.120 2 646364 intergenic variant T/A snv 0.82 0.800 1.000 1 2013 2013
dbSNP: rs10423928
rs10423928
12 0.807 0.200 19 45679046 intron variant T/A snv 0.19 0.800 1.000 1 2013 2013
dbSNP: rs1048466
rs1048466
1 1.000 0.080 12 442384 3 prime UTR variant G/A;C snv 0.800 1.000 1 2013 2013
dbSNP: rs10875976
rs10875976
1 1.000 0.080 12 49832684 intron variant G/A snv 0.41 0.800 1.000 1 2013 2013
dbSNP: rs10953454
rs10953454
1 1.000 0.080 7 104863366 intron variant G/A snv 0.12 0.800 1.000 1 2011 2011
dbSNP: rs11042023
rs11042023
3 1.000 0.080 11 8640969 missense variant T/C snv 0.60 0.59 0.800 1.000 1 2013 2013
dbSNP: rs11088859
rs11088859
1 1.000 0.080 21 21317024 intron variant G/A snv 4.5E-02 0.800 1.000 1 2011 2011
dbSNP: rs11109072
rs11109072
1 1.000 0.080 12 97507492 intron variant C/A snv 0.12 0.800 1.000 1 2013 2013