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rs119473036

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs119473036(A;A)
Make rs119473036(A;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position216435495
GeneSMARCAL1
is asnp
is mentioned by
dbSNPrs119473036
ebirs119473036
HLIrs119473036
Exacrs119473036
Varsomers119473036
Maprs119473036
PheGenIrs119473036
hapmaprs119473036
1000 genomesrs119473036
hgdprs119473036
ensemblrs119473036
gopubmedrs119473036
geneviewrs119473036
scholarrs119473036
googlers119473036
pharmgkbrs119473036
gwascentralrs119473036
openSNPrs119473036
23andMers119473036
23andMe allrs119473036
SNP Nexus

SNPshotrs119473036
SNPdbers119473036
MSV3drs119473036
GWAS Ctlgrs119473036
Max Magnitude0
OMIM606622
Desc
Variant0004
Relatedalso
ClinVar
Risk rs119473036(A;A)
Alt rs119473036(A;A)
Reference rs119473036(T;T)
Significance Pathogenic
Disease Schimke immunoosseous dysplasia
Variation info
Gene SMARCAL1
CLNDBN Schimke immunoosseous dysplasia
Reversed 0
HGVS NC_000002.11:g.217300218T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004391.2,