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rs281875189

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs281875189(C;T)
Make rs281875189(T;T)
ReferenceGRCh37.p10 37.5/138
Chromosome9
Position2115967
GeneSMARCA2
is asnp
is mentioned by
dbSNPrs281875189
ebirs281875189
HLIrs281875189
Exacrs281875189
Varsomers281875189
Maprs281875189
PheGenIrs281875189
hapmaprs281875189
1000 genomesrs281875189
hgdprs281875189
ensemblrs281875189
gopubmedrs281875189
geneviewrs281875189
scholarrs281875189
googlers281875189
pharmgkbrs281875189
gwascentralrs281875189
openSNPrs281875189
23andMers281875189
23andMe allrs281875189
SNP Nexus

SNPshotrs281875189
SNPdbers281875189
MSV3drs281875189
GWAS Ctlgrs281875189
Max Magnitude0
ClinVar
Risk rs281875189(T;T)
Alt rs281875189(T;T)
Reference rs281875189(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.2115967C>T
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000022917.2, RCV000059680.1,


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