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rs119473035

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs119473035(C;T)
Make rs119473035(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position216414804
GeneSMARCAL1
is asnp
is mentioned by
dbSNPrs119473035
ebirs119473035
HLIrs119473035
Exacrs119473035
Varsomers119473035
Maprs119473035
PheGenIrs119473035
hapmaprs119473035
1000 genomesrs119473035
hgdprs119473035
ensemblrs119473035
gopubmedrs119473035
geneviewrs119473035
scholarrs119473035
googlers119473035
pharmgkbrs119473035
gwascentralrs119473035
openSNPrs119473035
23andMers119473035
23andMe allrs119473035
SNP Nexus

SNPshotrs119473035
SNPdbers119473035
MSV3drs119473035
GWAS Ctlgrs119473035
Max Magnitude0
OMIM606622
Desc
Variant0003
Relatedalso
ClinVar
Risk rs119473035(T;T)
Alt rs119473035(T;T)
Reference rs119473035(C;C)
Significance Pathogenic
Disease Schimke immunoosseous dysplasia
Variation info
Gene SMARCAL1
CLNDBN Schimke immunoosseous dysplasia
Reversed 0
HGVS NC_000002.11:g.217279527C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004390.2,