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

rs119473038

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs119473038(C;T)
Make rs119473038(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position216447063
GeneSMARCAL1
is asnp
is mentioned by
dbSNPrs119473038
ebirs119473038
HLIrs119473038
Exacrs119473038
Varsomers119473038
Maprs119473038
PheGenIrs119473038
hapmaprs119473038
1000 genomesrs119473038
hgdprs119473038
ensemblrs119473038
gopubmedrs119473038
geneviewrs119473038
scholarrs119473038
googlers119473038
pharmgkbrs119473038
gwascentralrs119473038
openSNPrs119473038
23andMers119473038
23andMe allrs119473038
SNP Nexus

SNPshotrs119473038
SNPdbers119473038
MSV3drs119473038
GWAS Ctlgrs119473038
Max Magnitude0
OMIM606622
Desc
Variant0006
Relatedalso
ClinVar
Risk rs119473038(T;T)
Alt rs119473038(T;T)
Reference rs119473038(C;C)
Significance Pathogenic
Disease Schimke immunoosseous dysplasia
Variation info
Gene SMARCAL1
CLNDBN Schimke immunoosseous dysplasia
Reversed 0
HGVS NC_000002.11:g.217311786C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004393.3,