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: rs142354133
rs142354133
ANKRD1
1 1.000 0.120 10 90918971 missense variant G/A snv 1.5E-04 1.6E-04 0.700 1.000 1 2008 2008
dbSNP: rs1565295267
rs1565295267
MYRF ; TMEM258
6 0.827 0.360 11 61774051 missense variant C/A snv 0.700 0