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rs281875188

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs281875188(C;T)
Make rs281875188(T;T)
ReferenceGRCh37.p10 37.5/138
Chromosome9
Position2086950
GeneSMARCA2
is asnp
is mentioned by
dbSNPrs281875188
ebirs281875188
HLIrs281875188
Exacrs281875188
Varsomers281875188
Maprs281875188
PheGenIrs281875188
hapmaprs281875188
1000 genomesrs281875188
hgdprs281875188
ensemblrs281875188
gopubmedrs281875188
geneviewrs281875188
scholarrs281875188
googlers281875188
pharmgkbrs281875188
gwascentralrs281875188
openSNPrs281875188
23andMers281875188
23andMe allrs281875188
SNP Nexus

SNPshotrs281875188
SNPdbers281875188
MSV3drs281875188
GWAS Ctlgrs281875188
Max Magnitude0
ClinVar
Risk rs281875188(T;T)
Alt rs281875188(T;T)
Reference rs281875188(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.2086950C>T
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000022916.2, RCV000059666.1,


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