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rs121909833

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GAA;GAA) 0 common in clinvar
Make rs121909833(-;-)
Make rs121909833(-;GAA)
ReferenceGRCh38 38.1/141
ChromosomeX
Position152867580
GeneNSDHL
is asnp
is mentioned by
dbSNPrs121909833
dbSNP (classic)rs121909833
ClinGenrs121909833
ebirs121909833
HLIrs121909833
Exacrs121909833
Gnomadrs121909833
Varsomers121909833
LitVarrs121909833
Maprs121909833
PheGenIrs121909833
Biobankrs121909833
1000 genomesrs121909833
hgdprs121909833
ensemblrs121909833
geneviewrs121909833
scholarrs121909833
googlers121909833
pharmgkbrs121909833
gwascentralrs121909833
openSNPrs121909833
23andMers121909833
SNPshotrs121909833
SNPdbers121909833
MSV3drs121909833
GWAS Ctlgrs121909833
Max Magnitude0
OMIM300275
Desc
Variant0008
Relatedalso
ClinVar
Risk rs121909833(-;-)
Alt rs121909833(-;-)
Reference Rs121909833(GAA;GAA)
Significance Pathogenic
Disease NSDHL-Related Disorders
Variation info
Gene NSDHL
CLNDBN NSDHL-Related Disorders
Reversed 0
HGVS NC_000023.10:g.152036124_152036126delGAA
CLNSRC OMIM Allelic Variant
CLNACC RCV000020430.11,