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rs281875229

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs281875229(C;C)
Make rs281875229(C;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position11024389
GeneSMARCA4
is asnp
is mentioned by
dbSNPrs281875229
ebirs281875229
HLIrs281875229
Exacrs281875229
Varsomers281875229
Maprs281875229
PheGenIrs281875229
hapmaprs281875229
1000 genomesrs281875229
hgdprs281875229
ensemblrs281875229
gopubmedrs281875229
geneviewrs281875229
scholarrs281875229
googlers281875229
pharmgkbrs281875229
gwascentralrs281875229
openSNPrs281875229
23andMers281875229
23andMe allrs281875229
SNP Nexus

SNPshotrs281875229
SNPdbers281875229
MSV3drs281875229
GWAS Ctlgrs281875229
Max Magnitude0
ClinVar
Risk rs281875229(C;C)
Alt rs281875229(C;C)
Reference rs281875229(T;T)
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.11135065T>C
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000023288.4, RCV000059687.1,


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