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: rs879253740
rs879253740
NPC2 ; ISCA2
5 0.882 0.240 14 74493191 splice donor variant A/G snv 0.700 0
dbSNP: rs886039908
rs886039908
GPC3
5 0.925 0.360 X 133536175 frameshift variant A/- delins 0.700 0
dbSNP: rs111033806
rs111033806
GALT
4 0.882 0.160 9 34649523 stop gained G/A;T snv 0.700 0
dbSNP: rs1569547876
rs1569547876
MAGT1
4 1.000 X 77841252 stop gained G/A snv 0.700 0
dbSNP: rs878853320
rs878853320
GBA
3 1.000 0.120 1 155235303 missense variant A/C snv 4.0E-06 0.700 0