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rs769967246

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs769967246(C;T)
Make rs769967246(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome19
Position1105456
GeneGPX4
is asnp
is mentioned by
dbSNPrs769967246
dbSNP (classic)rs769967246
ClinGenrs769967246
ebirs769967246
HLIrs769967246
Exacrs769967246
Gnomadrs769967246
Varsomers769967246
LitVarrs769967246
Maprs769967246
PheGenIrs769967246
Biobankrs769967246
1000 genomesrs769967246
hgdprs769967246
ensemblrs769967246
geneviewrs769967246
scholarrs769967246
googlers769967246
pharmgkbrs769967246
gwascentralrs769967246
openSNPrs769967246
23andMers769967246
SNPshotrs769967246
SNPdbers769967246
MSV3drs769967246
GWAS Ctlgrs769967246
Max Magnitude0
ClinVar
Risk rs769967246(A;A) rs769967246(T;T)
Alt rs769967246(A;A) rs769967246(T;T)
Reference Rs769967246(C;C)
Significance Pathogenic
Disease Spondylometaphyseal dysplasia Sedaghatian type
Variation info
Gene GPX4
CLNDBN Spondylometaphyseal dysplasia Sedaghatian type
Reversed 0
HGVS NC_000019.9:g.1105455C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000128833.4,