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: rs687289
rs687289
ABO
15 1.000 0.120 9 133261703 intron variant A/G snv 0.700 1.000 2 2010 2019
dbSNP: rs10102164
rs10102164
RP1
4 8 54509054 upstream gene variant G/A snv 0.19 0.700 1.000 1 2019 2019
dbSNP: rs10498631
rs10498631
TC2N
1 14 91802187 intron variant C/T snv 0.29 0.700 1.000 1 2019 2019
dbSNP: rs1063856
rs1063856
VWF
14 0.763 0.400 12 6044368 missense variant T/C;G snv 0.31 0.700 1.000 1 2010 2010
dbSNP: rs1070073
rs1070073
STAB2
2 12 103606541 intron variant T/G snv 0.71 0.700 1.000 1 2019 2019
dbSNP: rs11064010
rs11064010
VWF
2 12 6050980 intron variant T/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs11780263
rs11780263
SCARA5
1 8 27966315 intron variant G/A snv 0.19 0.700 1.000 1 2019 2019
dbSNP: rs11793768
rs11793768 		1 9 133241275 regulatory region variant G/A snv 8.0E-02 0.700 1.000 1 2019 2019
dbSNP: rs12423482
rs12423482
VWF
1 12 5961679 intron variant A/G snv 4.4E-02 0.700 1.000 1 2019 2019
dbSNP: rs137631
rs137631 		1 22 39321701 upstream gene variant T/C snv 0.92 0.700 1.000 1 2019 2019
dbSNP: rs150926226
rs150926226
TMLHE ; TMLHE-AS1
1 X 155491696 intron variant G/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs1869365
rs1869365
RAB5C
2 17 42141847 intron variant T/C snv 0.40 0.700 1.000 1 2019 2019
dbSNP: rs2238109
rs2238109
VWF
2 12 6044801 intron variant T/A snv 0.40 0.700 1.000 1 2019 2019
dbSNP: rs2723889
rs2723889
STAB2
1 12 103606692 intron variant T/C snv 0.72 0.700 1.000 1 2019 2019
dbSNP: rs3124758
rs3124758
SLC2A6
1 9 133479731 upstream gene variant G/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs35108384
rs35108384
RALGDS
1 9 133101311 non coding transcript exon variant G/A snv 0.23 0.20 0.700 1.000 1 2019 2019
dbSNP: rs35458154
rs35458154
ST3GAL4 ; KIRREL3
2 11 126426930 intron variant G/A snv 1.3E-02 0.700 1.000 1 2019 2019
dbSNP: rs35468074
rs35468074
LINC00583 ; LOC101929507
1 9 13930482 intron variant -/A delins 0.11 0.700 1.000 1 2019 2019
dbSNP: rs3751198
rs3751198
NT5DC3 ; STAB2
1 12 103753429 intron variant A/G snv 0.59 0.700 1.000 1 2019 2019
dbSNP: rs4276643
rs4276643
SCARA5
2 8 27946082 intron variant C/T snv 0.64 0.700 1.000 1 2019 2019
dbSNP: rs4904820
rs4904820
TC2N
2 14 91852591 intron variant G/A snv 0.53 0.700 1.000 1 2019 2019
dbSNP: rs4981022
rs4981022
NT5DC3 ; STAB2
2 12 103756096 intron variant G/A snv 0.69 0.700 1.000 1 2019 2019
dbSNP: rs548630
rs548630 		2 5 73110832 intergenic variant A/C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs551924
rs551924 		1 9 133306143 downstream gene variant G/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs55829013
rs55829013
SCARA5
1 8 27920631 intron variant A/C snv 0.33 0.700 1.000 1 2019 2019