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rs119473034

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs119473034(C;T)
Make rs119473034(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position216414753
GeneSMARCAL1
is asnp
is mentioned by
dbSNPrs119473034
ebirs119473034
HLIrs119473034
Exacrs119473034
Varsomers119473034
Maprs119473034
PheGenIrs119473034
hapmaprs119473034
1000 genomesrs119473034
hgdprs119473034
ensemblrs119473034
gopubmedrs119473034
geneviewrs119473034
scholarrs119473034
googlers119473034
pharmgkbrs119473034
gwascentralrs119473034
openSNPrs119473034
23andMers119473034
23andMe allrs119473034
SNP Nexus

SNPshotrs119473034
SNPdbers119473034
MSV3drs119473034
GWAS Ctlgrs119473034
Max Magnitude0
OMIM606622
Desc
Variant0002
Relatedalso
ClinVar
Risk rs119473034(T;T)
Alt rs119473034(T;T)
Reference rs119473034(C;C)
Significance Pathogenic
Disease Schimke immunoosseous dysplasia
Variation info
Gene SMARCAL1
CLNDBN Schimke immunoosseous dysplasia
Reversed 0
HGVS NC_000002.11:g.217279476C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004389.2,