rs281875230

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs281875230(C;G)

Make rs281875230(G;G)

Reference

GRCh38 38.1/141

Chromosome

19

Position

11030816

Gene

SMARCA4

is a	snp
is	mentioned by
dbSNP	rs281875230
dbSNP (classic)	rs281875230
ClinGen	rs281875230
ebi	rs281875230
HLI	rs281875230
Exac	rs281875230
Gnomad	rs281875230
Varsome	rs281875230
LitVar	rs281875230
Map	rs281875230
PheGenI	rs281875230
Biobank	rs281875230
1000 genomes	rs281875230
hgdp	rs281875230
ensembl	rs281875230
geneview	rs281875230
scholar	rs281875230
google	rs281875230
pharmgkb	rs281875230
gwascentral	rs281875230
openSNP	rs281875230
23andMe	rs281875230
SNPshot	rs281875230
SNPdbe	rs281875230
MSV3d	rs281875230
GWAS Ctlg	rs281875230

Max Magnitude

0

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 (protein) UniProtKB (variants)
CLNACC	RCV000023289.4, RCV000059688.1,

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