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

rs267607071

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267607071(A;A)
Make rs267607071(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position216475315
GeneSMARCAL1
is asnp
is mentioned by
dbSNPrs267607071
ebirs267607071
HLIrs267607071
Exacrs267607071
Varsomers267607071
Maprs267607071
PheGenIrs267607071
hapmaprs267607071
1000 genomesrs267607071
hgdprs267607071
ensemblrs267607071
gopubmedrs267607071
geneviewrs267607071
scholarrs267607071
googlers267607071
pharmgkbrs267607071
gwascentralrs267607071
openSNPrs267607071
23andMers267607071
23andMe allrs267607071
SNP Nexus

SNPshotrs267607071
SNPdbers267607071
MSV3drs267607071
GWAS Ctlgrs267607071
Max Magnitude0
ClinVar
Risk rs267607071(A;A)
Alt rs267607071(A;A)
Reference rs267607071(G;G)
Significance Pathogenic
Disease Schimke immunoosseous dysplasia
Variation info
Gene SMARCAL1
CLNDBN Schimke immunoosseous dysplasia
Reversed 0
HGVS NC_000002.11:g.217340038G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004395.2,