rs1554200992, 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 121446966 missense variant C/T snv 0.810 1.000 2 2006 2019
Glaucoma
CUI: C0017601
Disease: Glaucoma
198 0.925 0.160 6 121446966 missense variant C/T snv 0.010 1.000 1 2019 2019