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rs794728006

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794728006(-;-)
Make rs794728006(-;G)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position172350406
GeneSH3PXD2B
is asnp
is mentioned by
dbSNPrs794728006
ebirs794728006
HLIrs794728006
Exacrs794728006
Varsomers794728006
Maprs794728006
PheGenIrs794728006
hapmaprs794728006
1000 genomesrs794728006
hgdprs794728006
ensemblrs794728006
gopubmedrs794728006
geneviewrs794728006
scholarrs794728006
googlers794728006
pharmgkbrs794728006
gwascentralrs794728006
openSNPrs794728006
23andMers794728006
23andMe allrs794728006
SNP Nexus

SNPshotrs794728006
SNPdbers794728006
MSV3drs794728006
GWAS Ctlgrs794728006
Max Magnitude0
ClinVar
Risk rs794728006(;)
Alt rs794728006(;)
Reference rs794728006(G;G)
Significance Pathogenic
Disease Frank Ter Haar syndrome
Variation info
Gene SH3PXD2B
CLNDBN Frank Ter Haar syndrome
Reversed 1
HGVS NC_000005.9:g.171777410delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000000212.3,