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rs137853599

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137853599(A;A)
Make rs137853599(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position120626713
GeneC1GALT1C1
is asnp
is mentioned by
dbSNPrs137853599
ebirs137853599
HLIrs137853599
Exacrs137853599
Varsomers137853599
Maprs137853599
PheGenIrs137853599
hapmaprs137853599
1000 genomesrs137853599
hgdprs137853599
ensemblrs137853599
gopubmedrs137853599
geneviewrs137853599
scholarrs137853599
googlers137853599
pharmgkbrs137853599
gwascentralrs137853599
openSNPrs137853599
23andMers137853599
23andMe allrs137853599
SNP Nexus

SNPshotrs137853599
SNPdbers137853599
MSV3drs137853599
GWAS Ctlgrs137853599
Max Magnitude0
OMIM300611
Desc
Variant0003
Relatedalso
ClinVar
Risk rs137853599(A;A)
Alt rs137853599(A;A)
Reference rs137853599(G;G)
Significance Pathogenic
Disease Polyagglutinable erythrocyte syndrome
Variation info
Gene C1GALT1C1
CLNDBN Polyagglutinable erythrocyte syndrome
Reversed 1
HGVS NC_000023.10:g.119760568C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000011540.4,