Have questions? Visit https://www.reddit.com/r/SNPedia

rs797045974

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs797045974(C;T)
Make rs797045974(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position2084156
GeneSMARCA2
is asnp
is mentioned by
dbSNPrs797045974
ebirs797045974
HLIrs797045974
Exacrs797045974
Varsomers797045974
Maprs797045974
PheGenIrs797045974
hapmaprs797045974
1000 genomesrs797045974
hgdprs797045974
ensemblrs797045974
gopubmedrs797045974
geneviewrs797045974
scholarrs797045974
googlers797045974
pharmgkbrs797045974
gwascentralrs797045974
openSNPrs797045974
23andMers797045974
23andMe allrs797045974
SNP Nexus

SNPshotrs797045974
SNPdbers797045974
MSV3drs797045974
GWAS Ctlgrs797045974
Max Magnitude0
ClinVar
Risk rs797045974(T;T)
Alt rs797045974(T;T)
Reference rs797045974(C;C)
Significance Probable-Pathogenic
Disease Nicolaides-Baraitser syndrome
Variation info
Gene SMARCA2
CLNDBN Nicolaides-Baraitser syndrome
Reversed 0
HGVS NC_000009.11:g.2084156C>T
CLNSRC
CLNACC RCV000195199.1,