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rs281875186

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs281875186(A;A)
Make rs281875186(A;G)
ReferenceGRCh37.p10 37.5/138
Chromosome9
Position2115850
GeneSMARCA2
is asnp
is mentioned by
dbSNPrs281875186
ebirs281875186
HLIrs281875186
Exacrs281875186
Varsomers281875186
Maprs281875186
PheGenIrs281875186
hapmaprs281875186
1000 genomesrs281875186
hgdprs281875186
ensemblrs281875186
gopubmedrs281875186
geneviewrs281875186
scholarrs281875186
googlers281875186
pharmgkbrs281875186
gwascentralrs281875186
openSNPrs281875186
23andMers281875186
23andMe allrs281875186
SNP Nexus

SNPshotrs281875186
SNPdbers281875186
MSV3drs281875186
GWAS Ctlgrs281875186
Max Magnitude0
ClinVar
Risk rs281875186(A;A)
Alt rs281875186(A;A)
Reference rs281875186(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.2115850G>A
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000022914.5, RCV000059678.1,


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