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: rs1057518946
rs1057518946
8 0.882 0.080 X 71223816 missense variant G/T snv 0.700 0
dbSNP: rs1555817157
rs1555817157
16 0.742 0.280 20 25339320 frameshift variant TCTTCCTCAGGCG/- del 0.700 1.000 1 2018 2018
dbSNP: rs121908552
rs121908552
14 0.763 0.160 17 63964587 missense variant C/A;G;T snv 4.0E-06 0.700 0
dbSNP: rs771785420
rs771785420
GAN
8 0.851 0.120 16 81357848 missense variant C/G;T snv 4.0E-06 0.700 0
dbSNP: rs1555365597
rs1555365597
5 0.925 0.040 14 50623194 missense variant C/A snv 0.700 0