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rs587776955

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587776955(A;A)
Make rs587776955(A;T)
ReferenceGRCh38 38.1/142
Chromosome12
Position6944575
GeneC12orf57
is asnp
is mentioned by
dbSNPrs587776955
dbSNP (classic)rs587776955
ClinGenrs587776955
ebirs587776955
HLIrs587776955
Exacrs587776955
Gnomadrs587776955
Varsomers587776955
LitVarrs587776955
Maprs587776955
PheGenIrs587776955
Biobankrs587776955
1000 genomesrs587776955
hgdprs587776955
ensemblrs587776955
geneviewrs587776955
scholarrs587776955
googlers587776955
pharmgkbrs587776955
gwascentralrs587776955
openSNPrs587776955
23andMers587776955
SNPshotrs587776955
SNPdbers587776955
MSV3drs587776955
GWAS Ctlgrs587776955
Max Magnitude0
ClinVar
Risk rs587776955(A;A)
Alt rs587776955(A;A)
Reference Rs587776955(T;T)
Significance Pathogenic
Disease Temtamy syndrome
Variation info
Gene C12orf57
CLNDBN Temtamy syndrome
Reversed 0
HGVS NC_000012.12:g.6944575T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000034853.3,