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: rs121912793
rs121912793
CHN1
2 0.925 0.120 2 174878011 missense variant A/C snv 7.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs376375916
rs376375916
PAX5
1 1.000 0.120 9 36923398 missense variant G/A;C snv 1.2E-05 0.010 1.000 1 2009 2009