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rs121908157

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908157(A;A)
Make rs121908157(A;C)
ReferenceGRCh38 38.1/141
Chromosome10
Position14934461
GeneDCLRE1C
is asnp
is mentioned by
dbSNPrs121908157
ebirs121908157
HLIrs121908157
Exacrs121908157
Varsomers121908157
Maprs121908157
PheGenIrs121908157
hapmaprs121908157
1000 genomesrs121908157
hgdprs121908157
ensemblrs121908157
gopubmedrs121908157
geneviewrs121908157
scholarrs121908157
googlers121908157
pharmgkbrs121908157
gwascentralrs121908157
openSNPrs121908157
23andMers121908157
23andMe allrs121908157
SNP Nexus

SNPshotrs121908157
SNPdbers121908157
MSV3drs121908157
GWAS Ctlgrs121908157
Max Magnitude0
OMIM605988
Desc
Variant0009
Relatedalso
ClinVar
Risk rs121908157(A;A)
Alt rs121908157(A;A)
Reference rs121908157(C;C)
Significance Pathogenic
Disease Severe combined immunodeficiency
Variation info
Gene DCLRE1C
CLNDBN Severe combined immunodeficiency, athabascan-type
Reversed 1
HGVS NC_000010.10:g.14976460G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004937.2,