rs121912969, GJA1

N. diseases: 1
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 1.000 0.160 6 121446879 missense variant T/C snv 0.800 1.000 1 2006 2006