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rs281875184

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs281875184(C;G)
Make rs281875184(G;G)
ReferenceGRCh37.p10 37.5/138
Chromosome9
Position2115840
GeneSMARCA2
is asnp
is mentioned by
dbSNPrs281875184
ebirs281875184
HLIrs281875184
Exacrs281875184
Varsomers281875184
Maprs281875184
PheGenIrs281875184
hapmaprs281875184
1000 genomesrs281875184
hgdprs281875184
ensemblrs281875184
gopubmedrs281875184
geneviewrs281875184
scholarrs281875184
googlers281875184
pharmgkbrs281875184
gwascentralrs281875184
openSNPrs281875184
23andMers281875184
23andMe allrs281875184
SNP Nexus

SNPshotrs281875184
SNPdbers281875184
MSV3drs281875184
GWAS Ctlgrs281875184
Max Magnitude0
ClinVar
Risk rs281875184(G;G)
Alt rs281875184(G;G)
Reference rs281875184(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.2115840C>G
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000022912.2, RCV000059675.1,


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