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rs104894954

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894954(C;T)
Make rs104894954(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position37728022
GeneXK
is asnp
is mentioned by
dbSNPrs104894954
dbSNP (classic)rs104894954
ClinGenrs104894954
ebirs104894954
HLIrs104894954
Exacrs104894954
Gnomadrs104894954
Varsomers104894954
LitVarrs104894954
Maprs104894954
PheGenIrs104894954
Biobankrs104894954
1000 genomesrs104894954
hgdprs104894954
ensemblrs104894954
geneviewrs104894954
scholarrs104894954
googlers104894954
pharmgkbrs104894954
gwascentralrs104894954
openSNPrs104894954
23andMers104894954
SNPshotrs104894954
SNPdbers104894954
MSV3drs104894954
GWAS Ctlgrs104894954
Max Magnitude0
OMIM314850
Desc
Variant0008
Relatedalso
ClinVar
Risk rs104894954(T;T)
Alt rs104894954(T;T)
Reference Rs104894954(C;C)
Significance Pathogenic
Disease McLeod neuroacanthocytosis syndrome
Variation info
Gene XK
CLNDBN McLeod neuroacanthocytosis syndrome
Reversed 0
HGVS NC_000023.10:g.37587275C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000010425.4,