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

rs1057518993

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057518993(C;T)
Make rs1057518993(T;T)
ReferenceGRCh38.p7 38.3/150
ChromosomeX
Position53243367
GeneIQSEC2
is asnp
is mentioned by
dbSNPrs1057518993
dbSNP (old)rs1057518993
ClinGenrs1057518993
ebirs1057518993
HLIrs1057518993
Exacrs1057518993
Gnomadrs1057518993
Varsomers1057518993
LitVarrs1057518993
Maprs1057518993
PheGenIrs1057518993
Biobankrs1057518993
1000 genomesrs1057518993
hgdprs1057518993
ensemblrs1057518993
gopubmedrs1057518993
geneviewrs1057518993
scholarrs1057518993
googlers1057518993
pharmgkbrs1057518993
gwascentralrs1057518993
openSNPrs1057518993
23andMers1057518993
23andMe allrs1057518993
SNPshotrs1057518993
SNPdbers1057518993
MSV3drs1057518993
GWAS Ctlgrs1057518993
Max Magnitude0
ClinVar
Risk rs1057518993(T;T)
Alt rs1057518993(T;T)
Reference Rs1057518993(C;C)
Significance Probable-Pathogenic
Disease Autism Severe intellectual deficiency
Variation info
Gene IQSEC2
CLNDBN Autism Severe intellectual deficiency
Reversed 1
HGVS NC_000023.10:g.53272549G>A
CLNSRC
CLNACC RCV000414794.1,