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rs119473033

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs119473033(G;T)
Make rs119473033(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position216478216
GeneSMARCAL1
is asnp
is mentioned by
dbSNPrs119473033
ebirs119473033
HLIrs119473033
Exacrs119473033
Varsomers119473033
Maprs119473033
PheGenIrs119473033
hapmaprs119473033
1000 genomesrs119473033
hgdprs119473033
ensemblrs119473033
gopubmedrs119473033
geneviewrs119473033
scholarrs119473033
googlers119473033
pharmgkbrs119473033
gwascentralrs119473033
openSNPrs119473033
23andMers119473033
23andMe allrs119473033
SNP Nexus

SNPshotrs119473033
SNPdbers119473033
MSV3drs119473033
GWAS Ctlgrs119473033
Max Magnitude0
OMIM606622
Desc
Variant0001
Relatedalso
ClinVar
Risk rs119473033(T;T)
Alt rs119473033(T;T)
Reference rs119473033(G;G)
Significance Pathogenic
Disease Schimke immunoosseous dysplasia
Variation info
Gene SMARCAL1
CLNDBN Schimke immunoosseous dysplasia
Reversed 0
HGVS NC_000002.11:g.217342939G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004388.2,