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rs397514701

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397514701(C;T)
Make rs397514701(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position69044779
GeneANTXR1
is asnp
is mentioned by
dbSNPrs397514701
ebirs397514701
HLIrs397514701
Exacrs397514701
Varsomers397514701
Maprs397514701
PheGenIrs397514701
hapmaprs397514701
1000 genomesrs397514701
hgdprs397514701
ensemblrs397514701
gopubmedrs397514701
geneviewrs397514701
scholarrs397514701
googlers397514701
pharmgkbrs397514701
gwascentralrs397514701
openSNPrs397514701
23andMers397514701
23andMe allrs397514701
SNP Nexus

SNPshotrs397514701
SNPdbers397514701
MSV3drs397514701
GWAS Ctlgrs397514701
Max Magnitude0
ClinVar
Risk rs397514701(T;T)
Alt rs397514701(T;T)
Reference rs397514701(C;C)
Significance Pathogenic
Disease Odontotrichomelic syndrome
Variation info
Gene ANTXR1
CLNDBN Odontotrichomelic syndrome
Reversed 0
HGVS NC_000002.11:g.69271911C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000043622.2,