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rs397514537

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397514537(C;C)
Make rs397514537(C;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position120626590
GeneC1GALT1C1
is asnp
is mentioned by
dbSNPrs397514537
ebirs397514537
HLIrs397514537
Exacrs397514537
Varsomers397514537
Maprs397514537
PheGenIrs397514537
hapmaprs397514537
1000 genomesrs397514537
hgdprs397514537
ensemblrs397514537
gopubmedrs397514537
geneviewrs397514537
scholarrs397514537
googlers397514537
pharmgkbrs397514537
gwascentralrs397514537
openSNPrs397514537
23andMers397514537
23andMe allrs397514537
SNP Nexus

SNPshotrs397514537
SNPdbers397514537
MSV3drs397514537
GWAS Ctlgrs397514537
Max Magnitude0
ClinVar
Risk rs397514537(C;C)
Alt rs397514537(C;C)
Reference rs397514537(T;T)
Significance Pathogenic
Disease Polyagglutinable erythrocyte syndrome
Variation info
Gene C1GALT1C1
CLNDBN Polyagglutinable erythrocyte syndrome
Reversed 1
HGVS NC_000023.10:g.119760445A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000032773.4,