rs764670582, 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.
Craniometaphyseal dysplasia, autosomal recessive type
CUI: C2931244
Disease: Craniometaphyseal dysplasia, autosomal recessive type
1 0.827 0.120 6 121447563 missense variant G/A snv 2.4E-05 4.2E-05 0.800 1.000 1 2013 2013
CAMPOMELIC DYSPLASIA
CUI: C1861922
Disease: CAMPOMELIC DYSPLASIA
20 0.827 0.120 6 121447563 missense variant G/A snv 2.4E-05 4.2E-05 0.010 1.000 1 2013 2013
Coronary Microvascular Disease
CUI: C2827469
Disease: Coronary Microvascular Disease
3 0.827 0.120 6 121447563 missense variant G/A snv 2.4E-05 4.2E-05 0.010 1.000 1 2013 2013
CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT
CUI: C1852502
Disease: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT
9 0.827 0.120 6 121447563 missense variant G/A snv 2.4E-05 4.2E-05 0.010 1.000 1 2013 2013
Syndactyly
CUI: C0039075
Disease: Syndactyly
26 0.827 0.120 6 121447563 missense variant G/A snv 2.4E-05 4.2E-05 0.010 1.000 1 2013 2013