rs281875239

Orientation

plus

Stabilized

plus

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

Make rs281875239(G;T)

Make rs281875239(T;T)

Reference

GRCh37.p10 37.5/138

Chromosome

9

Position

2115969

Gene

SMARCA2

is a	snp
is	mentioned by
dbSNP	rs281875239
dbSNP (classic)	rs281875239
ClinGen	rs281875239
ebi	rs281875239
HLI	rs281875239
Exac	rs281875239
Gnomad	rs281875239
Varsome	rs281875239
LitVar	rs281875239
Map	rs281875239
PheGenI	rs281875239
Biobank	rs281875239
1000 genomes	rs281875239
hgdp	rs281875239
ensembl	rs281875239
geneview	rs281875239
scholar	rs281875239
google	rs281875239
pharmgkb	rs281875239
gwascentral	rs281875239
openSNP	rs281875239
23andMe	rs281875239
SNPshot	rs281875239
SNPdbe	rs281875239
MSV3d	rs281875239
GWAS Ctlg	rs281875239

Max Magnitude

0

ClinVar
Risk	rs281875239(T;T)
Alt	rs281875239(T;T)
Reference	Rs281875239(G;G)
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.2115969G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein) UniProtKB (variants)
CLNACC	RCV000022909.4, RCV000059681.1,

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