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rs398123038

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398123038(G;T)
Make rs398123038(T;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position32216609
GenePOFUT1
is asnp
is mentioned by
dbSNPrs398123038
ebirs398123038
HLIrs398123038
Exacrs398123038
Varsomers398123038
Maprs398123038
PheGenIrs398123038
hapmaprs398123038
1000 genomesrs398123038
hgdprs398123038
ensemblrs398123038
gopubmedrs398123038
geneviewrs398123038
scholarrs398123038
googlers398123038
pharmgkbrs398123038
gwascentralrs398123038
openSNPrs398123038
23andMers398123038
23andMe allrs398123038
SNP Nexus

SNPshotrs398123038
SNPdbers398123038
MSV3drs398123038
GWAS Ctlgrs398123038
Max Magnitude0
ClinVar
Risk rs398123038(T;T)
Alt rs398123038(T;T)
Reference rs398123038(G;G)
Significance Pathogenic
Disease Dowling-Degos disease 2
Variation info
Gene POFUT1
CLNDBN Dowling-Degos disease 2
Reversed 0
HGVS NC_000020.10:g.30804412G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000050207.2,