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rs587779750

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587779750(C;T)
Make rs587779750(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11034171
GeneSMARCA4
is asnp
is mentioned by
dbSNPrs587779750
ebirs587779750
HLIrs587779750
Exacrs587779750
Varsomers587779750
Maprs587779750
PheGenIrs587779750
hapmaprs587779750
1000 genomesrs587779750
hgdprs587779750
ensemblrs587779750
gopubmedrs587779750
geneviewrs587779750
scholarrs587779750
googlers587779750
pharmgkbrs587779750
gwascentralrs587779750
openSNPrs587779750
23andMers587779750
23andMe allrs587779750
SNP Nexus

SNPshotrs587779750
SNPdbers587779750
MSV3drs587779750
GWAS Ctlgrs587779750
Max Magnitude0
ClinVar
Risk rs587779750(T;T)
Alt rs587779750(T;T)
Reference rs587779750(C;C)
Significance Probable-Pathogenic
Disease Mental retardation
Variation info
Gene SMARCA4
CLNDBN Mental retardation, autosomal dominant 16
Reversed 0
HGVS NC_000019.9:g.11144847C>T
CLNSRC
CLNACC RCV000114304.2,