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rs794728005

From SNPedia

Orientationminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs794728005(-;-)
Make rs794728005(-;T)
Make rs794728005(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position172422424
GeneSH3PXD2B
is asnp
is mentioned by
dbSNPrs794728005
ebirs794728005
HLIrs794728005
Exacrs794728005
Varsomers794728005
Maprs794728005
PheGenIrs794728005
hapmaprs794728005
1000 genomesrs794728005
hgdprs794728005
ensemblrs794728005
gopubmedrs794728005
geneviewrs794728005
scholarrs794728005
googlers794728005
pharmgkbrs794728005
gwascentralrs794728005
openSNPrs794728005
23andMers794728005
23andMe allrs794728005
SNP Nexus

SNPshotrs794728005
SNPdbers794728005
MSV3drs794728005
GWAS Ctlgrs794728005
Max Magnitude0
ClinVar
Risk rs794728005(T;T)
Alt rs794728005(T;T)
Reference rs794728005(;)
Significance Pathogenic
Disease Frank Ter Haar syndrome
Variation info
Gene SH3PXD2B
CLNDBN Frank Ter Haar syndrome
Reversed 1
HGVS NC_000005.9:g.171849429dupA
CLNSRC OMIM Allelic Variant
CLNACC RCV000000211.3,