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: rs119103212
rs119103212
MCCC1
2 0.925 0.120 3 183045522 missense variant A/C snv 1.6E-05 5.6E-05 0.700 1.000 2 2001 2015