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: rs10402308
rs10402308
CILP2
1 19 19546691 downstream gene variant G/A snv 0.27 0.700 1.000 1 2019 2019
dbSNP: rs10584116
rs10584116
AFG3L1P
1 16 89995916 non coding transcript exon variant CT/- delins 0.14 0.700 1.000 1 2019 2019
dbSNP: rs10769282
rs10769282
MTCH2
1 11 47604940 intergenic variant T/C;G snv 0.23 0.700 1.000 1 2019 2019
dbSNP: rs10916174
rs10916174
ZNF678
1 1 227616340 intron variant G/A snv 0.13 0.700 1.000 1 2019 2019
dbSNP: rs10962638
rs10962638
BNC2
1 9 16846113 intron variant G/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs11049566
rs11049566
CCDC91
1 12 28380028 intron variant C/T snv 0.19 0.700 1.000 1 2019 2019
dbSNP: rs11205303
rs11205303
MTMR11
9 0.882 0.120 1 149934520 missense variant T/C snv 0.33 0.29 0.700 1.000 1 2019 2019
dbSNP: rs112416074
rs112416074 		1 7 148950668 intergenic variant -/G delins 0.14 0.700 1.000 1 2019 2019
dbSNP: rs11289753
rs11289753
PLCE1
1 10 94266428 intron variant AA/-;A;AAA delins 0.47 0.700 1.000 1 2019 2019
dbSNP: rs113640408
rs113640408
THBS2
1 6 169244314 intron variant CACACACACACA/-;CA;CACA;CACACA;CACACACA;CACACACACA;CACACACACACACA;CACACACACACACACA;CACACACACACACACACA;CACACACACACACACACACA;CACACACACACACACACACACA;CACACACACACACACACACACACA;CACACACACACACACACACACACACA;CACACACACACACACACACACACACACA;CACACACACACACACACACACACACACACA delins 0.700 1.000 1 2019 2019
dbSNP: rs1138714
rs1138714
PNPLA2 ; CRACR2B
1 11 825110 3 prime UTR variant A/G snv 0.47 0.700 1.000 1 2019 2019
dbSNP: rs115912456
rs115912456
VCAN
1 5 83519339 intron variant A/G snv 3.0E-02 2.8E-02 0.700 1.000 1 2019 2019
dbSNP: rs11614785
rs11614785 		1 12 50486639 intergenic variant C/G snv 0.24 0.700 1.000 1 2019 2019
dbSNP: rs11785562
rs11785562
SLC25A37
1 8 23533980 intron variant G/A snv 0.21 0.700 1.000 1 2019 2019
dbSNP: rs11856122
rs11856122
ADAMTSL3
1 15 83907596 intron variant G/A snv 0.63 0.700 1.000 1 2019 2019
dbSNP: rs123509
rs123509
KLHL40
1 3 42691976 missense variant T/C snv 0.82 0.81 0.700 1.000 1 2019 2019
dbSNP: rs12426511
rs12426511
OS9
1 12 57696518 intron variant G/A snv 0.18 0.700 1.000 1 2019 2019
dbSNP: rs12546366
rs12546366
XKR6
1 8 10944636 intron variant T/C snv 0.56 0.700 1.000 1 2019 2019
dbSNP: rs12794995
rs12794995
NDUFV1 ; C11orf72
1 11 67605475 intron variant G/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs12820906
rs12820906
PITPNM2
2 12 123008576 intron variant A/G snv 0.20 0.700 1.000 1 2019 2019
dbSNP: rs12905253
rs12905253
LOXL1
1 15 73940096 intron variant G/A snv 0.37 0.700 1.000 1 2019 2019
dbSNP: rs12917712
rs12917712
SEZ6L2
1 16 29871169 3 prime UTR variant C/T snv 0.37 0.700 1.000 1 2019 2019
dbSNP: rs12971970
rs12971970 		1 19 47056015 intergenic variant T/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs13011472
rs13011472 		1 2 57734467 intergenic variant C/G snv 0.40 0.700 1.000 1 2019 2019
dbSNP: rs13069365
rs13069365
DOCK3
1 3 50979528 intron variant G/A;T snv 0.700 1.000 1 2019 2019