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rs137853598

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137853598(C;T)
Make rs137853598(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position120626965
GeneC1GALT1C1
is asnp
is mentioned by
dbSNPrs137853598
ebirs137853598
HLIrs137853598
Exacrs137853598
Varsomers137853598
Maprs137853598
PheGenIrs137853598
hapmaprs137853598
1000 genomesrs137853598
hgdprs137853598
ensemblrs137853598
gopubmedrs137853598
geneviewrs137853598
scholarrs137853598
googlers137853598
pharmgkbrs137853598
gwascentralrs137853598
openSNPrs137853598
23andMers137853598
23andMe allrs137853598
SNP Nexus

SNPshotrs137853598
SNPdbers137853598
MSV3drs137853598
GWAS Ctlgrs137853598
Max Magnitude0
OMIM300611
Desc
Variant0001
Relatedalso
ClinVar
Risk rs137853598(T;T)
Alt rs137853598(T;T)
Reference rs137853598(C;C)
Significance Pathogenic
Disease Polyagglutinable erythrocyte syndrome
Variation info
Gene C1GALT1C1
CLNDBN Polyagglutinable erythrocyte syndrome
Reversed 1
HGVS NC_000023.10:g.119760820G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000011538.4,