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rs281875239

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs281875239(G;T)
Make rs281875239(T;T)
ReferenceGRCh37.p10 37.5/138
Chromosome9
Position2115969
GeneSMARCA2
is asnp
is mentioned by
dbSNPrs281875239
ebirs281875239
HLIrs281875239
Exacrs281875239
Varsomers281875239
Maprs281875239
PheGenIrs281875239
hapmaprs281875239
1000 genomesrs281875239
hgdprs281875239
ensemblrs281875239
gopubmedrs281875239
geneviewrs281875239
scholarrs281875239
googlers281875239
pharmgkbrs281875239
gwascentralrs281875239
openSNPrs281875239
23andMers281875239
23andMe allrs281875239
SNP Nexus

SNPshotrs281875239
SNPdbers281875239
MSV3drs281875239
GWAS Ctlgrs281875239
Max Magnitude0
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 (variants)
CLNACC RCV000022909.4, RCV000059681.1,


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