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rs397514736

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397514736(C;T)
Make rs397514736(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position22259652
GeneANO5
is asnp
is mentioned by
dbSNPrs397514736
ebirs397514736
HLIrs397514736
Exacrs397514736
Varsomers397514736
Maprs397514736
PheGenIrs397514736
hapmaprs397514736
1000 genomesrs397514736
hgdprs397514736
ensemblrs397514736
gopubmedrs397514736
geneviewrs397514736
scholarrs397514736
googlers397514736
pharmgkbrs397514736
gwascentralrs397514736
openSNPrs397514736
23andMers397514736
23andMe allrs397514736
SNP Nexus

SNPshotrs397514736
SNPdbers397514736
MSV3drs397514736
GWAS Ctlgrs397514736
Max Magnitude0
ClinVar
Risk rs397514736(T;T)
Alt rs397514736(T;T)
Reference rs397514736(C;C)
Significance Pathogenic
Disease Gnathodiaphyseal dysplasia
Variation info
Gene ANO5
CLNDBN Gnathodiaphyseal dysplasia
Reversed 0
HGVS NC_000011.9:g.22281198C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000054502.2,