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rs1057518672

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057518672(A;A)
Make rs1057518672(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position5694007
GeneSOX11
is asnp
is mentioned by
dbSNPrs1057518672
dbSNP (classic)rs1057518672
ClinGenrs1057518672
ebirs1057518672
HLIrs1057518672
Exacrs1057518672
Gnomadrs1057518672
Varsomers1057518672
LitVarrs1057518672
Maprs1057518672
PheGenIrs1057518672
Biobankrs1057518672
1000 genomesrs1057518672
hgdprs1057518672
ensemblrs1057518672
geneviewrs1057518672
scholarrs1057518672
googlers1057518672
pharmgkbrs1057518672
gwascentralrs1057518672
openSNPrs1057518672
23andMers1057518672
23andMe allrs1057518672
SNPshotrs1057518672
SNPdbers1057518672
MSV3drs1057518672
GWAS Ctlgrs1057518672
Max Magnitude0
ClinVar
Risk rs1057518672(A;A)
Alt rs1057518672(A;A)
Reference Rs1057518672(G;G)
Significance Pathogenic
Disease Mental retardation
Variation info
Gene SOX11
CLNDBN Mental retardation, autosomal dominant 27
Reversed 0
HGVS NC_000002.11:g.5834139G>A
CLNSRC
CLNACC RCV000414848.1,