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rs775217258

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs775217258(G;G)
Make rs775217258(G;T)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position172422498
GeneSH3PXD2B
is asnp
is mentioned by
dbSNPrs775217258
ebirs775217258
HLIrs775217258
Exacrs775217258
Varsomers775217258
Maprs775217258
PheGenIrs775217258
hapmaprs775217258
1000 genomesrs775217258
hgdprs775217258
ensemblrs775217258
gopubmedrs775217258
geneviewrs775217258
scholarrs775217258
googlers775217258
pharmgkbrs775217258
gwascentralrs775217258
openSNPrs775217258
23andMers775217258
23andMe allrs775217258
SNP Nexus

SNPshotrs775217258
SNPdbers775217258
MSV3drs775217258
GWAS Ctlgrs775217258
Max Magnitude0
ClinVar
Risk rs775217258(G;G)
Alt rs775217258(G;G)
Reference rs775217258(T;T)
Significance Pathogenic
Disease Frank Ter Haar syndrome
Variation info
Gene SH3PXD2B
CLNDBN Frank Ter Haar syndrome
Reversed 0
HGVS NC_000005.9:g.171849502T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000000214.4,