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rs281875185

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs281875185(G;T)
Make rs281875185(T;T)
ReferenceGRCh37.p10 37.5/138
Chromosome9
Position2086944
GeneSMARCA2
is asnp
is mentioned by
dbSNPrs281875185
ebirs281875185
HLIrs281875185
Exacrs281875185
Varsomers281875185
Maprs281875185
PheGenIrs281875185
hapmaprs281875185
1000 genomesrs281875185
hgdprs281875185
ensemblrs281875185
gopubmedrs281875185
geneviewrs281875185
scholarrs281875185
googlers281875185
pharmgkbrs281875185
gwascentralrs281875185
openSNPrs281875185
23andMers281875185
23andMe allrs281875185
SNP Nexus

SNPshotrs281875185
SNPdbers281875185
MSV3drs281875185
GWAS Ctlgrs281875185
Max Magnitude0
ClinVar
Risk rs281875185(T;T)
Alt rs281875185(T;T)
Reference rs281875185(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.2086944G>T
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000022913.2, RCV000059665.1,


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