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: rs1064797102
rs1064797102
15 0.827 0.120 8 91071136 splice acceptor variant A/G snv 0.700 0
dbSNP: rs1064797103
rs1064797103
9 0.827 0.280 8 91078597 missense variant A/G snv 0.700 0
dbSNP: rs1131690789
rs1131690789
2 1.000 X 47181316 frameshift variant AG/- delins 0.700 0
dbSNP: rs1281877795
rs1281877795
2 1.000 2 55249467 frameshift variant CTTTTTTCACT/- delins 0.700 0
dbSNP: rs1553878198
rs1553878198
2 1.000 4 26406245 missense variant C/G snv 0.700 0
dbSNP: rs1555740650
rs1555740650
13 0.807 0.240 19 49596253 stop gained G/T snv 0.700 0
dbSNP: rs1555933969
rs1555933969
1 1.000 X 41216161 frameshift variant T/- delins 0.700 0
dbSNP: rs1556024875
rs1556024875
4 0.882 0.160 X 123634002 missense variant G/A snv 0.700 0
dbSNP: rs1557189252
rs1557189252
2 1.000 X 54465532 missense variant G/A snv 0.700 0
dbSNP: rs368313959
rs368313959
8 0.851 0.080 8 91078383 stop gained C/T snv 1.6E-04 1.0E-04 0.700 0
dbSNP: rs397517156
rs397517156
4 0.851 0.200 2 39012333 missense variant T/A snv 0.700 0
dbSNP: rs759317757
rs759317757
12 0.807 0.280 8 91078416 frameshift variant TTAAC/- delins 0.700 0
dbSNP: rs864309508
rs864309508
4 0.925 0.080 15 25356778 frameshift variant CA/- delins 0.700 0
dbSNP: rs886039804
rs886039804
4 0.882 0.120 11 61366050 missense variant A/G snv 0.700 0
dbSNP: rs886039807
rs886039807
11 0.776 0.480 16 75541466 non coding transcript exon variant A/G snv 4.2E-06 0.700 0
dbSNP: rs1553353206
rs1553353206
3 1.000 1 224398525 frameshift variant CATTTAACAA/- delins 0.700 1.000 1 2017 2017
dbSNP: rs1553417206
rs1553417206
2 1.000 2 72465341 splice acceptor variant T/C snv 0.700 1.000 1 2016 2016
dbSNP: rs746480833
rs746480833
2 1.000 1 154569536 missense variant C/T snv 4.0E-06; 1.2E-05 2.8E-05 0.700 1.000 1 2017 2017
dbSNP: rs869320713
rs869320713
6 0.851 0.120 10 248370 missense variant G/A snv 0.700 1.000 1 2014 2014
dbSNP: rs886041081
rs886041081
4 0.925 4 185144891 missense variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1114167891
rs1114167891
OGT
2 0.925 X 71555312 missense variant G/C snv 0.010 1.000 1 2017 2017
dbSNP: rs121918524
rs121918524
6 0.827 0.200 X 54011232 missense variant A/G snv 0.010 1.000 1 2010 2010
dbSNP: rs1464216639
rs1464216639
2 1.000 9 137106289 stop gained G/A snv 6.1E-06 0.010 1.000 1 2011 2011
dbSNP: rs1487917041
rs1487917041
1 1.000 17 63917839 missense variant C/T snv 0.010 1.000 1 2009 2009
dbSNP: rs80338761
rs80338761
4 0.882 0.080 17 77402298 missense variant C/T snv 0.010 1.000 1 2008 2008