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: rs56079856
rs56079856
IDUA
1 4 1000223 intron variant G/T snv 0.14 0.700 1.000 1 2018 2018
dbSNP: rs181978376
rs181978376 		1 10 100037758 downstream gene variant T/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs4295981
rs4295981
CPN1
1 10 100043668 intron variant C/T snv 0.37 0.700 1.000 1 2018 2018
dbSNP: rs11599750
rs11599750
CPN1
3 10 100045685 intron variant C/T snv 0.40 0.700 1.000 1 2018 2018
dbSNP: rs4919420
rs4919420
CPN1
1 10 100046495 intron variant A/G snv 0.40 0.700 1.000 1 2018 2018
dbSNP: rs11621315
rs11621315
EVL
1 14 100060318 intron variant C/T snv 0.61 0.700 1.000 1 2018 2018
dbSNP: rs61751507
rs61751507
CPN1
3 1.000 0.080 10 100069757 missense variant C/T snv 4.2E-02 3.4E-02 0.700 1.000 1 2018 2018
dbSNP: rs7970682
rs7970682
CLEC1B ; CLEC12B
1 12 10007469 intron variant C/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs72840032
rs72840032
CYP2C23P
1 10 100130207 intron variant C/T snv 3.4E-02 0.700 1.000 1 2018 2018
dbSNP: rs11692867
rs11692867
AFF3
1 2 100143015 intron variant G/A snv 0.34 0.700 1.000 1 2018 2018
dbSNP: rs6979218
rs6979218 		1 7 100295525 regulatory region variant C/G snv 0.76 0.700 1.000 1 2018 2018
dbSNP: rs113289555
rs113289555
IDUA
1 4 1003210 non coding transcript exon variant G/T snv 0.18 0.700 1.000 1 2018 2018
dbSNP: rs941923
rs941923
WARS1
1 14 100346740 splice region variant T/C snv 0.76 0.69 0.700 1.000 1 2018 2018
dbSNP: rs11771799
rs11771799
PILRB ; STAG3L5P-PVRIG2P-PILRB
1 7 100358813 missense variant T/A;C;G snv 4.3E-03 0.700 1.000 1 2018 2018
dbSNP: rs151288400
rs151288400
PILRB ; STAG3L5P-PVRIG2P-PILRB
1 7 100360372 intron variant AG/- delins 0.16 0.700 1.000 1 2018 2018
dbSNP: rs76041173
rs76041173
FANCD2
1 3 10037011 intron variant G/A;T snv 0.21 0.700 1.000 1 2018 2018
dbSNP: rs12539172
rs12539172
NYAP1
1 7 100494172 3 prime UTR variant T/C;G snv 0.700 1.000 1 2018 2018
dbSNP: rs4729597
rs4729597
TFR2
2 7 100624226 intron variant C/T snv 0.69 0.700 1.000 1 2018 2018
dbSNP: rs9801017
rs9801017
TFR2
3 7 100638579 intron variant G/A snv 0.65 0.700 1.000 1 2018 2018
dbSNP: rs7144375
rs7144375
LINC00523
1 14 100671047 intron variant T/C snv 0.19 0.700 1.000 1 2018 2018
dbSNP: rs10144381
rs10144381 		1 14 100706960 regulatory region variant C/A;G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs12881760
rs12881760
LOC105370669
1 14 100709998 regulatory region variant G/C snv 0.45 0.700 1.000 1 2018 2018
dbSNP: rs200997557
rs200997557 		1 19 10079661 intergenic variant A/-;AA delins 0.700 1.000 1 2018 2018
dbSNP: rs3121567
rs3121567
ISG15
1 1 1008088 non coding transcript exon variant T/C snv 0.88 0.700 1.000 1 2018 2018
dbSNP: rs4727469
rs4727469 		1 7 100911543 upstream gene variant C/T snv 0.41 0.700 1.000 1 2018 2018