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rs1057519440

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057519440(A;A)
Make rs1057519440(A;G)
ReferenceGRCh38.p7 38.3/150
ChromosomeX
Position51744647
GeneGSPT2
is asnp
is mentioned by
dbSNPrs1057519440
dbSNP (old)rs1057519440
ClinGenrs1057519440
ebirs1057519440
HLIrs1057519440
Exacrs1057519440
Gnomadrs1057519440
Varsomers1057519440
LitVarrs1057519440
Maprs1057519440
PheGenIrs1057519440
Biobankrs1057519440
1000 genomesrs1057519440
hgdprs1057519440
ensemblrs1057519440
gopubmedrs1057519440
geneviewrs1057519440
scholarrs1057519440
googlers1057519440
pharmgkbrs1057519440
gwascentralrs1057519440
openSNPrs1057519440
23andMers1057519440
23andMe allrs1057519440
SNPshotrs1057519440
SNPdbers1057519440
MSV3drs1057519440
GWAS Ctlgrs1057519440
Max Magnitude0
ClinVar
Risk rs1057519440(A;A)
Alt rs1057519440(A;A)
Reference Rs1057519440(G;G)
Significance Pathogenic
Disease Autism Delayed speech and language development Seizures
Variation info
Gene GSPT2
CLNDBN Autism Delayed speech and language development Seizures
Reversed 0
HGVS NC_000023.10:g.51487743G>A
CLNSRC
CLNACC RCV000416451.1,