Gene: GNPTAB ×
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: rs1555269488
rs1555269488
GNPTAB
4 0.882 0.200 12 101764241 frameshift variant -/A delins 0.700 0
dbSNP: rs397507562
rs397507562
GNPTAB
6 0.851 0.240 12 101757311 splice acceptor variant C/G;T snv 0.700 0