Have questions? Visit https://www.reddit.com/r/SNPedia

rs281875238

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs281875238(C;T)
Make rs281875238(T;T)
ReferenceGRCh37.p10 37.5/138
Chromosome9
Position2116002
GeneSMARCA2
is asnp
is mentioned by
dbSNPrs281875238
ebirs281875238
HLIrs281875238
Exacrs281875238
Varsomers281875238
Maprs281875238
PheGenIrs281875238
hapmaprs281875238
1000 genomesrs281875238
hgdprs281875238
ensemblrs281875238
gopubmedrs281875238
geneviewrs281875238
scholarrs281875238
googlers281875238
pharmgkbrs281875238
gwascentralrs281875238
openSNPrs281875238
23andMers281875238
23andMe allrs281875238
SNP Nexus

SNPshotrs281875238
SNPdbers281875238
MSV3drs281875238
GWAS Ctlgrs281875238
Max Magnitude0
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 (variants)
CLNACC RCV000022908.2, RCV000059683.1,


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