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rs281875190

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs281875190(C;T)
Make rs281875190(T;T)
ReferenceGRCh37.p10 37.5/138
Chromosome9
Position2088545
GeneSMARCA2
is asnp
is mentioned by
dbSNPrs281875190
ebirs281875190
HLIrs281875190
Exacrs281875190
Varsomers281875190
Maprs281875190
PheGenIrs281875190
hapmaprs281875190
1000 genomesrs281875190
hgdprs281875190
ensemblrs281875190
gopubmedrs281875190
geneviewrs281875190
scholarrs281875190
googlers281875190
pharmgkbrs281875190
gwascentralrs281875190
openSNPrs281875190
23andMers281875190
23andMe allrs281875190
SNP Nexus

SNPshotrs281875190
SNPdbers281875190
MSV3drs281875190
GWAS Ctlgrs281875190
Max Magnitude0
ClinVar
Risk rs281875190(T;T)
Alt rs281875190(T;T)
Reference rs281875190(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.2088545C>T
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000022918.2, RCV000059667.1,


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