Have questions? Visit https://www.reddit.com/r/SNPedia

rs119473037

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs119473037(C;T)
Make rs119473037(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position216450927
GeneSMARCAL1
is asnp
is mentioned by
dbSNPrs119473037
ebirs119473037
HLIrs119473037
Exacrs119473037
Varsomers119473037
Maprs119473037
PheGenIrs119473037
hapmaprs119473037
1000 genomesrs119473037
hgdprs119473037
ensemblrs119473037
gopubmedrs119473037
geneviewrs119473037
scholarrs119473037
googlers119473037
pharmgkbrs119473037
gwascentralrs119473037
openSNPrs119473037
23andMers119473037
23andMe allrs119473037
SNP Nexus

SNPshotrs119473037
SNPdbers119473037
MSV3drs119473037
GWAS Ctlgrs119473037
Max Magnitude0
OMIM606622
Desc
Variant0005
Relatedalso
ClinVar
Risk rs119473037(T;T)
Alt rs119473037(T;T)
Reference rs119473037(C;C)
Significance Pathogenic
Disease Schimke immunoosseous dysplasia
Variation info
Gene SMARCAL1
CLNDBN Schimke immunoosseous dysplasia
Reversed 0
HGVS NC_000002.11:g.217315650C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004392.2,