rs1057518872, GJA1

N. diseases: 5
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.
Anteverted nostril
CUI: C1840077
Disease: Anteverted nostril
35 0.882 0.160 6 121447287 missense variant T/C snv 0.700 0
Bilateral microphthalmos
CUI: C1843496
Disease: Bilateral microphthalmos
11 0.882 0.160 6 121447287 missense variant T/C snv 0.700 0
Cutaneous finger syndactyly
CUI: C4021254
Disease: Cutaneous finger syndactyly
1 0.882 0.160 6 121447287 missense variant T/C snv 0.700 0
Oculo-dento-digital syndrome
CUI: C0812437
Disease: Oculo-dento-digital syndrome
22 0.882 0.160 6 121447287 missense variant T/C snv 0.700 0
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 0.882 0.160 6 121447287 missense variant T/C snv 0.700 0