rs281875187

Orientation

plus

Stabilized

plus

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

Make rs281875187(G;T)

Make rs281875187(T;T)

Reference

GRCh37.p10 37.5/138

Chromosome

9

Position

2115841

Gene

SMARCA2

is a	snp
is	mentioned by
dbSNP	rs281875187
dbSNP (classic)	rs281875187
ClinGen	rs281875187
ebi	rs281875187
HLI	rs281875187
Exac	rs281875187
Gnomad	rs281875187
Varsome	rs281875187
LitVar	rs281875187
Map	rs281875187
PheGenI	rs281875187
Biobank	rs281875187
1000 genomes	rs281875187
hgdp	rs281875187
ensembl	rs281875187
geneview	rs281875187
scholar	rs281875187
google	rs281875187
pharmgkb	rs281875187
gwascentral	rs281875187
openSNP	rs281875187
23andMe	rs281875187
SNPshot	rs281875187
SNPdbe	rs281875187
MSV3d	rs281875187
GWAS Ctlg	rs281875187

Max Magnitude

0

ClinVar
Risk	rs281875187(A;A) rs281875187(T;T)
Alt	rs281875187(A;A) rs281875187(T;T)
Reference	Rs281875187(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.2115841G>A; NC_000009.11:g.2115841G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein) UniProtKB (variants)
CLNACC	RCV000022910.2, RCV000059676.1, RCV000022915.2, RCV000059677.1,

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