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rs281875228

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs281875228(C;T)
Make rs281875228(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position11021869
GeneSMARCA4
is asnp
is mentioned by
dbSNPrs281875228
ebirs281875228
HLIrs281875228
Exacrs281875228
Varsomers281875228
Maprs281875228
PheGenIrs281875228
hapmaprs281875228
1000 genomesrs281875228
hgdprs281875228
ensemblrs281875228
gopubmedrs281875228
geneviewrs281875228
scholarrs281875228
googlers281875228
pharmgkbrs281875228
gwascentralrs281875228
openSNPrs281875228
23andMers281875228
23andMe allrs281875228
SNP Nexus

SNPshotrs281875228
SNPdbers281875228
MSV3drs281875228
GWAS Ctlgrs281875228
Max Magnitude0
ClinVar
Risk rs281875228(T;T)
Alt rs281875228(T;T)
Reference rs281875228(C;C)
Significance Pathogenic
Disease Mental retardation not provided
Variation info
Gene SMARCA4
CLNDBN Mental retardation, autosomal dominant 16 not provided
Reversed 0
HGVS NC_000019.9:g.11132545C>T
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000023287.4, RCV000059686.1,


[PMID 22426308] Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.