rs1057518960, GJA1

N. diseases: 7
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.
4-5 finger syndactyly
CUI: C4023731
Disease: 4-5 finger syndactyly
2 0.882 0.160 6 121447333 missense variant G/C snv 0.700 0
Cleft upper lip
CUI: C0008924
Disease: Cleft upper lip
282 0.882 0.160 6 121447333 missense variant G/C snv 0.700 0
Edema of dorsum of foot
CUI: C2919341
Disease: Edema of dorsum of foot
2 0.882 0.160 6 121447333 missense variant G/C snv 0.700 0
Narrow nasal bridge
CUI: C4551564
Disease: Narrow nasal bridge
2 0.882 0.160 6 121447333 missense variant G/C snv 0.700 0
Sparse hair
CUI: C1837770
Disease: Sparse hair
9 0.882 0.160 6 121447333 missense variant G/C snv 0.700 0
Syndactyly of fingers
CUI: C0221352
Disease: Syndactyly of fingers
12 0.882 0.160 6 121447333 missense variant G/C snv 0.700 0
Underdeveloped nasal alae
CUI: C1834055
Disease: Underdeveloped nasal alae
8 0.882 0.160 6 121447333 missense variant G/C snv 0.700 0