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rs398123001

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs398123001(C;T)
Make rs398123001(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position143818378
GenePUF60
is asnp
is mentioned by
dbSNPrs398123001
ebirs398123001
HLIrs398123001
Exacrs398123001
Varsomers398123001
Maprs398123001
PheGenIrs398123001
hapmaprs398123001
1000 genomesrs398123001
hgdprs398123001
ensemblrs398123001
gopubmedrs398123001
geneviewrs398123001
scholarrs398123001
googlers398123001
pharmgkbrs398123001
gwascentralrs398123001
openSNPrs398123001
23andMers398123001
23andMe allrs398123001
SNP Nexus

SNPshotrs398123001
SNPdbers398123001
MSV3drs398123001
GWAS Ctlgrs398123001
Max Magnitude0
ClinVar
Risk rs398123001(T;T)
Alt rs398123001(T;T)
Reference Rs398123001(C;C)
Significance Pathogenic
Disease Verheij syndrome
Variation info
Gene PUF60
CLNDBN Verheij syndrome
Reversed 1
HGVS NC_000008.10:g.144900548G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000077784.2,