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rs397514488

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397514488(C;C)
Make rs397514488(C;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position52147039
GenePOC1A
is asnp
is mentioned by
dbSNPrs397514488
ebirs397514488
HLIrs397514488
Exacrs397514488
Varsomers397514488
Maprs397514488
PheGenIrs397514488
hapmaprs397514488
1000 genomesrs397514488
hgdprs397514488
ensemblrs397514488
gopubmedrs397514488
geneviewrs397514488
scholarrs397514488
googlers397514488
pharmgkbrs397514488
gwascentralrs397514488
openSNPrs397514488
23andMers397514488
23andMe allrs397514488
SNP Nexus

SNPshotrs397514488
SNPdbers397514488
MSV3drs397514488
GWAS Ctlgrs397514488
Max Magnitude0
ClinVar
Risk rs397514488(C;C)
Alt rs397514488(C;C)
Reference rs397514488(T;T)
Significance Pathogenic
Disease Short stature
Variation info
Gene POC1A
CLNDBN Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis
Reversed 1
HGVS NC_000003.11:g.52181055A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000030717.2,