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rs281875230

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs281875230(C;G)
Make rs281875230(G;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position11030816
GeneSMARCA4
is asnp
is mentioned by
dbSNPrs281875230
ebirs281875230
HLIrs281875230
Exacrs281875230
Varsomers281875230
Maprs281875230
PheGenIrs281875230
hapmaprs281875230
1000 genomesrs281875230
hgdprs281875230
ensemblrs281875230
gopubmedrs281875230
geneviewrs281875230
scholarrs281875230
googlers281875230
pharmgkbrs281875230
gwascentralrs281875230
openSNPrs281875230
23andMers281875230
23andMe allrs281875230
SNP Nexus

SNPshotrs281875230
SNPdbers281875230
MSV3drs281875230
GWAS Ctlgrs281875230
Max Magnitude0
ClinVar
Risk rs281875230(G;G)
Alt rs281875230(G;G)
Reference rs281875230(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.11141492C>G
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000023289.4, RCV000059688.1,


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