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rs281875226

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs281875226(C;T)
Make rs281875226(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position11019661
GeneSMARCA4
is asnp
is mentioned by
dbSNPrs281875226
ebirs281875226
HLIrs281875226
Exacrs281875226
Varsomers281875226
Maprs281875226
PheGenIrs281875226
hapmaprs281875226
1000 genomesrs281875226
hgdprs281875226
ensemblrs281875226
gopubmedrs281875226
geneviewrs281875226
scholarrs281875226
googlers281875226
pharmgkbrs281875226
gwascentralrs281875226
openSNPrs281875226
23andMers281875226
23andMe allrs281875226
SNP Nexus

SNPshotrs281875226
SNPdbers281875226
MSV3drs281875226
GWAS Ctlgrs281875226
Max Magnitude0
ClinVar
Risk rs281875226(T;T)
Alt rs281875226(T;T)
Reference rs281875226(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.11130337C>T
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000023285.4, RCV000059684.1,


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