rs104894954
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs104894954(C;T) |
Make rs104894954(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 37728022 |
Gene | XK |
is a | snp |
is | mentioned by |
dbSNP | rs104894954 |
dbSNP (classic) | rs104894954 |
ClinGen | rs104894954 |
ebi | rs104894954 |
HLI | rs104894954 |
Exac | rs104894954 |
Gnomad | rs104894954 |
Varsome | rs104894954 |
LitVar | rs104894954 |
Map | rs104894954 |
PheGenI | rs104894954 |
Biobank | rs104894954 |
1000 genomes | rs104894954 |
hgdp | rs104894954 |
ensembl | rs104894954 |
geneview | rs104894954 |
scholar | rs104894954 |
rs104894954 | |
pharmgkb | rs104894954 |
gwascentral | rs104894954 |
openSNP | rs104894954 |
23andMe | rs104894954 |
SNPshot | rs104894954 |
SNPdbe | rs104894954 |
MSV3d | rs104894954 |
GWAS Ctlg | rs104894954 |
Max Magnitude | 0 |
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, |