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: rs766490137
rs766490137
NISCH
2 0.925 0.040 3 52458801 missense variant T/C snv 4.0E-06 0.010 1.000 1 2017 2017