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rs1057518872

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057518872(C;C)
Make rs1057518872(C;T)
ReferenceGRCh38.p7 38.3/150
Chromosome6
Position121447287
GeneGJA1
is asnp
is mentioned by
dbSNPrs1057518872
dbSNP (old)rs1057518872
ClinGenrs1057518872
ebirs1057518872
HLIrs1057518872
Exacrs1057518872
Gnomadrs1057518872
Varsomers1057518872
Maprs1057518872
PheGenIrs1057518872
Biobankrs1057518872
1000 genomesrs1057518872
hgdprs1057518872
ensemblrs1057518872
gopubmedrs1057518872
geneviewrs1057518872
scholarrs1057518872
googlers1057518872
pharmgkbrs1057518872
gwascentralrs1057518872
openSNPrs1057518872
23andMers1057518872
23andMe allrs1057518872
SNPshotrs1057518872
SNPdbers1057518872
MSV3drs1057518872
GWAS Ctlgrs1057518872
Max Magnitude0
ClinVar
Risk rs1057518872(C;C)
Alt rs1057518872(C;C)
Reference Rs1057518872(T;T)
Significance Pathogenic
Disease Anteverted nares Bilateral microphthalmos Cutaneous finger syndactyly Intellectual disability
Variation info
Gene GJA1
CLNDBN Anteverted nares Bilateral microphthalmos Cutaneous finger syndactyly Intellectual disability
Reversed 0
HGVS NC_000006.11:g.121768433T>C
CLNSRC
CLNACC RCV000414769.1,