rs104893966, GJA1

N. diseases: 2
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Oculo-dento-digital syndrome
CUI: C0812437
Disease: Oculo-dento-digital syndrome
22 0.925 0.160 6 121447428 missense variant A/C snv 0.800 1.000 1 2006 2006
Syndactyly
CUI: C0039075
Disease: Syndactyly
26 0.925 0.160 6 121447428 missense variant A/C snv 0.010 1 2007 2007