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rs397514487

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397514487(C;T)
Make rs397514487(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position52149850
GenePOC1A
is asnp
is mentioned by
dbSNPrs397514487
ebirs397514487
HLIrs397514487
Exacrs397514487
Varsomers397514487
Maprs397514487
PheGenIrs397514487
hapmaprs397514487
1000 genomesrs397514487
hgdprs397514487
ensemblrs397514487
gopubmedrs397514487
geneviewrs397514487
scholarrs397514487
googlers397514487
pharmgkbrs397514487
gwascentralrs397514487
openSNPrs397514487
23andMers397514487
23andMe allrs397514487
SNP Nexus

SNPshotrs397514487
SNPdbers397514487
MSV3drs397514487
GWAS Ctlgrs397514487
Max Magnitude0
ClinVar
Risk rs397514487(T;T)
Alt rs397514487(T;T)
Reference rs397514487(C;C)
Significance Pathogenic
Disease Short stature Primordial dwarfism
Variation info
Gene POC1A
CLNDBN Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis Primordial dwarfism
Reversed 1
HGVS NC_000003.11:g.52183866G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000030716.2, RCV000162166.1,