rs281875238

Orientation

plus

Stabilized

plus

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

Make rs281875238(C;T)

Make rs281875238(T;T)

Reference

GRCh37.p10 37.5/138

Chromosome

9

Position

2116002

Gene

SMARCA2

is a	snp
is	mentioned by
dbSNP	rs281875238
dbSNP (classic)	rs281875238
ClinGen	rs281875238
ebi	rs281875238
HLI	rs281875238
Exac	rs281875238
Gnomad	rs281875238
Varsome	rs281875238
LitVar	rs281875238
Map	rs281875238
PheGenI	rs281875238
Biobank	rs281875238
1000 genomes	rs281875238
hgdp	rs281875238
ensembl	rs281875238
geneview	rs281875238
scholar	rs281875238
google	rs281875238
pharmgkb	rs281875238
gwascentral	rs281875238
openSNP	rs281875238
23andMe	rs281875238
SNPshot	rs281875238
SNPdbe	rs281875238
MSV3d	rs281875238
GWAS Ctlg	rs281875238

Max Magnitude

0

ClinVar
Risk	rs281875238(T;T)
Alt	rs281875238(T;T)
Reference	Rs281875238(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.2116002C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein) UniProtKB (variants)
CLNACC	RCV000022908.2, RCV000059683.1,

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