rs1566528711, GJB2

N. diseases: 6
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.
Abnormality of connective tissue
CUI: C4025596
Disease: Abnormality of connective tissue
3 0.851 0.240 13 20189338 missense variant T/C snv 0.700 0
Abnormality of the eye
CUI: C4316870
Disease: Abnormality of the eye
29 0.851 0.240 13 20189338 missense variant T/C snv 0.700 0
Abnormality of the immune system
CUI: C4021753
Disease: Abnormality of the immune system
3 0.851 0.240 13 20189338 missense variant T/C snv 0.700 0
Abnormality of the integument
CUI: C4025761
Disease: Abnormality of the integument
1 0.851 0.240 13 20189338 missense variant T/C snv 0.700 0
Congenital neurologic anomalies
CUI: C0497552
Disease: Congenital neurologic anomalies
4 0.851 0.240 13 20189338 missense variant T/C snv 0.700 0
Senter syndrome
CUI: C0265336
Disease: Senter syndrome
30 0.851 0.240 13 20189338 missense variant T/C snv 0.700 0