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rs281875240

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs281875240(A;T)
Make rs281875240(T;T)
ReferenceGRCh37.p10 37.5/138
Chromosome9
Position2115838
GeneSMARCA2
is asnp
is mentioned by
dbSNPrs281875240
ebirs281875240
HLIrs281875240
Exacrs281875240
Varsomers281875240
Maprs281875240
PheGenIrs281875240
hapmaprs281875240
1000 genomesrs281875240
hgdprs281875240
ensemblrs281875240
gopubmedrs281875240
geneviewrs281875240
scholarrs281875240
googlers281875240
pharmgkbrs281875240
gwascentralrs281875240
openSNPrs281875240
23andMers281875240
23andMe allrs281875240
SNP Nexus

SNPshotrs281875240
SNPdbers281875240
MSV3drs281875240
GWAS Ctlgrs281875240
Max Magnitude0
ClinVar
Risk rs281875240(T;T)
Alt rs281875240(T;T)
Reference rs281875240(A;A)
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.2115838A>T
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000022911.2, RCV000059674.1,


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