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rs281875198

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs281875198(C;C)
Make rs281875198(C;G)
ReferenceGRCh37.p10 37.5/138
Chromosome9
Position2081902
GeneSMARCA2
is asnp
is mentioned by
dbSNPrs281875198
ebirs281875198
HLIrs281875198
Exacrs281875198
Varsomers281875198
Maprs281875198
PheGenIrs281875198
hapmaprs281875198
1000 genomesrs281875198
hgdprs281875198
ensemblrs281875198
gopubmedrs281875198
geneviewrs281875198
scholarrs281875198
googlers281875198
pharmgkbrs281875198
gwascentralrs281875198
openSNPrs281875198
23andMers281875198
23andMe allrs281875198
SNP Nexus

SNPshotrs281875198
SNPdbers281875198
MSV3drs281875198
GWAS Ctlgrs281875198
Max Magnitude0
ClinVar
Risk rs281875198(C;C)
Alt rs281875198(C;C)
Reference rs281875198(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.2081902G>C
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000022919.4, RCV000059656.1,


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