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rs267607046

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267607046(C;T)
Make rs267607046(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position172422445
GeneSH3PXD2B
is asnp
is mentioned by
dbSNPrs267607046
ebirs267607046
HLIrs267607046
Exacrs267607046
Varsomers267607046
Maprs267607046
PheGenIrs267607046
hapmaprs267607046
1000 genomesrs267607046
hgdprs267607046
ensemblrs267607046
gopubmedrs267607046
geneviewrs267607046
scholarrs267607046
googlers267607046
pharmgkbrs267607046
gwascentralrs267607046
openSNPrs267607046
23andMers267607046
23andMe allrs267607046
SNP Nexus

SNPshotrs267607046
SNPdbers267607046
MSV3drs267607046
GWAS Ctlgrs267607046
Max Magnitude0
ClinVar
Risk rs267607046(T;T)
Alt rs267607046(T;T)
Reference rs267607046(C;C)
Significance Pathogenic
Disease Frank Ter Haar syndrome
Variation info
Gene SH3PXD2B
CLNDBN Frank Ter Haar syndrome
Reversed 1
HGVS NC_000005.9:g.171849449G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000213.3,