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rs1057518960

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057518960(C;C)
Make rs1057518960(C;G)
ReferenceGRCh38.p7 38.3/150
Chromosome6
Position121447333
GeneGJA1
is asnp
is mentioned by
dbSNPrs1057518960
dbSNP (old)rs1057518960
ClinGenrs1057518960
ebirs1057518960
HLIrs1057518960
Exacrs1057518960
Gnomadrs1057518960
Varsomers1057518960
Maprs1057518960
PheGenIrs1057518960
Biobankrs1057518960
1000 genomesrs1057518960
hgdprs1057518960
ensemblrs1057518960
gopubmedrs1057518960
geneviewrs1057518960
scholarrs1057518960
googlers1057518960
pharmgkbrs1057518960
gwascentralrs1057518960
openSNPrs1057518960
23andMers1057518960
23andMe allrs1057518960
SNPshotrs1057518960
SNPdbers1057518960
MSV3drs1057518960
GWAS Ctlgrs1057518960
Max Magnitude0
ClinVar
Risk rs1057518960(C;C)
Alt rs1057518960(C;C)
Reference Rs1057518960(G;G)
Significance Probable-Pathogenic
Disease 4-5 finger syndactyly Cleft upper lip Edema of the dorsum of feet Finger syndactyly Narrow nasal bridge Sparse hair Underdeveloped nasal alae
Variation info
Gene GJA1
CLNDBN 4-5 finger syndactyly Cleft upper lip Edema of the dorsum of feet Finger syndactyly Narrow nasal bridge Sparse hair Underdeveloped nasal alae
Reversed 0
HGVS NC_000006.11:g.121768479G>C
CLNSRC
CLNACC RCV000414964.1,