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rs281875187

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs281875187(G;T)
Make rs281875187(T;T)
ReferenceGRCh37.p10 37.5/138
Chromosome9
Position2115841
GeneSMARCA2
is asnp
is mentioned by
dbSNPrs281875187
ebirs281875187
HLIrs281875187
Exacrs281875187
Varsomers281875187
Maprs281875187
PheGenIrs281875187
hapmaprs281875187
1000 genomesrs281875187
hgdprs281875187
ensemblrs281875187
gopubmedrs281875187
geneviewrs281875187
scholarrs281875187
googlers281875187
pharmgkbrs281875187
gwascentralrs281875187
openSNPrs281875187
23andMers281875187
23andMe allrs281875187
SNP Nexus

SNPshotrs281875187
SNPdbers281875187
MSV3drs281875187
GWAS Ctlgrs281875187
Max Magnitude0
ClinVar
Risk rs281875187(A,T;A,T)
Alt rs281875187(A,T;A,T)
Reference rs281875187(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.2115841G>A; NC_000009.11:g.2115841G>T
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000022910.2, RCV000059676.1, RCV000022915.2, RCV000059677.1,


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