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rs28933690

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(T;T) 0 common in clinvar
Make rs28933690(C;C)
Make rs28933690(C;T)
ReferenceGRCh38 38.1/142
ChromosomeX
Position37728007
GeneXK
is asnp
is mentioned by
dbSNPrs28933690
ebirs28933690
HLIrs28933690
Exacrs28933690
Varsomers28933690
Maprs28933690
PheGenIrs28933690
hapmaprs28933690
1000 genomesrs28933690
hgdprs28933690
ensemblrs28933690
gopubmedrs28933690
geneviewrs28933690
scholarrs28933690
googlers28933690
pharmgkbrs28933690
gwascentralrs28933690
openSNPrs28933690
23andMers28933690
23andMe allrs28933690
SNP Nexus

SNPshotrs28933690
SNPdbers28933690
MSV3drs28933690
GWAS Ctlgrs28933690
Max Magnitude0
OMIM314850
DescMCLEOD SYNDROME
Variant0005
Relatedalso


ClinVar
Risk rs28933690(G;G)
Alt rs28933690(G;G)
Reference rs28933690(A;A)
Significance Pathogenic
Disease McLeod neuroacanthocytosis syndrome
Variation info
Gene XK
CLNDBN McLeod neuroacanthocytosis syndrome
Reversed 1
HGVS NC_000023.10:g.37587260T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000010422.2,