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rs1057519593

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057519593(A;A)
Make rs1057519593(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position126424898
GeneKIRREL3, ST3GAL4
is asnp
is mentioned by
dbSNPrs1057519593
dbSNP (old)rs1057519593
ClinGenrs1057519593
ebirs1057519593
HLIrs1057519593
Exacrs1057519593
Gnomadrs1057519593
Varsomers1057519593
LitVarrs1057519593
Maprs1057519593
PheGenIrs1057519593
Biobankrs1057519593
1000 genomesrs1057519593
hgdprs1057519593
ensemblrs1057519593
gopubmedrs1057519593
geneviewrs1057519593
scholarrs1057519593
googlers1057519593
pharmgkbrs1057519593
gwascentralrs1057519593
openSNPrs1057519593
23andMers1057519593
23andMe allrs1057519593
SNPshotrs1057519593
SNPdbers1057519593
MSV3drs1057519593
GWAS Ctlgrs1057519593
Max Magnitude0
ClinVar
Risk rs1057519593(A;A)
Alt rs1057519593(A;A)
Reference Rs1057519593(G;G)
Significance Probable-Pathogenic
Disease Mental retardation
Variation info
Gene KIRREL3
CLNDBN Mental retardation, autosomal dominant 4
Reversed 1
HGVS NC_000011.9:g.126294793C>T
CLNSRC
CLNACC RCV000417096.1,