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rs367543284

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs367543284(A;A)
Make rs367543284(A;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position172382035
GeneSH3PXD2B
is asnp
is mentioned by
dbSNPrs367543284
ebirs367543284
HLIrs367543284
Exacrs367543284
Varsomers367543284
Maprs367543284
PheGenIrs367543284
hapmaprs367543284
1000 genomesrs367543284
hgdprs367543284
ensemblrs367543284
gopubmedrs367543284
geneviewrs367543284
scholarrs367543284
googlers367543284
pharmgkbrs367543284
gwascentralrs367543284
openSNPrs367543284
23andMers367543284
23andMe allrs367543284
SNP Nexus

SNPshotrs367543284
SNPdbers367543284
MSV3drs367543284
GWAS Ctlgrs367543284
Max Magnitude0
ClinVar
Risk rs367543284(A;A)
Alt rs367543284(A;A)
Reference rs367543284(G;G)
Significance Pathogenic
Disease Borrone Di Rocco Crovato syndrome Frank Ter Haar syndrome
Variation info
Gene SH3PXD2B
CLNDBN Borrone Di Rocco Crovato syndrome Frank Ter Haar syndrome
Reversed 1
HGVS NC_000005.9:g.171809039C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000049342.1, RCV000201206.1,