Gene: GLA ×
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: rs199473684
rs199473684
GLA ; RPL36A-HNRNPH2
3 0.925 0.160 X 101399747 3 prime UTR variant C/T snv 0.700 0
dbSNP: rs397515870
rs397515870
GLA ; RPL36A-HNRNPH2
2 1.000 0.160 X 101400692 missense variant G/C;T snv 0.700 0
dbSNP: rs886039136
rs886039136
GLA ; RPL36A-HNRNPH2
1 X 101403885 frameshift variant G/-;GG delins 0.700 0