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: rs193922638
rs193922638
CEL
1 1.000 0.080 9 133071271 frameshift variant C/-;CC delins 0.700 0