rs281875189

Orientation

plus

Stabilized

plus

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

Make rs281875189(C;T)

Make rs281875189(T;T)

Reference

GRCh37.p10 37.5/138

Chromosome

9

Position

2115967

Gene

SMARCA2

is a	snp
is	mentioned by
dbSNP	rs281875189
dbSNP (classic)	rs281875189
ClinGen	rs281875189
ebi	rs281875189
HLI	rs281875189
Exac	rs281875189
Gnomad	rs281875189
Varsome	rs281875189
LitVar	rs281875189
Map	rs281875189
PheGenI	rs281875189
Biobank	rs281875189
1000 genomes	rs281875189
hgdp	rs281875189
ensembl	rs281875189
geneview	rs281875189
scholar	rs281875189
google	rs281875189
pharmgkb	rs281875189
gwascentral	rs281875189
openSNP	rs281875189
23andMe	rs281875189
SNPshot	rs281875189
SNPdbe	rs281875189
MSV3d	rs281875189
GWAS Ctlg	rs281875189

Max Magnitude

0

ClinVar
Risk	rs281875189(T;T)
Alt	rs281875189(T;T)
Reference	Rs281875189(C;C)
Significance	Pathogenic
Disease	Nicolaides-Baraitser syndrome not provided
Variation	info
Gene	SMARCA2
CLNDBN	Nicolaides-Baraitser syndrome not provided
Reversed	0
HGVS	NC_000009.11:g.2115967C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein) UniProtKB (variants)
CLNACC	RCV000022917.2, RCV000059680.2,

[PMID 22366787] Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome.