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rs1057516716

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057516716(-;C)
Make rs1057516716(C;C)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position2171774
GeneMIR4686, TH
is asnp
is mentioned by
dbSNPrs1057516716
dbSNP (old)rs1057516716
ClinGenrs1057516716
ebirs1057516716
HLIrs1057516716
Exacrs1057516716
Gnomadrs1057516716
Varsomers1057516716
Maprs1057516716
PheGenIrs1057516716
Biobankrs1057516716
1000 genomesrs1057516716
hgdprs1057516716
ensemblrs1057516716
gopubmedrs1057516716
geneviewrs1057516716
scholarrs1057516716
googlers1057516716
pharmgkbrs1057516716
gwascentralrs1057516716
openSNPrs1057516716
23andMers1057516716
23andMe allrs1057516716
SNPshotrs1057516716
SNPdbers1057516716
MSV3drs1057516716
GWAS Ctlgrs1057516716
Max Magnitude0
ClinVar
Risk rs1057516716(C;C)
Alt rs1057516716(C;C)
Reference Rs1057516716(-;-)
Significance Probable-Pathogenic
Disease Segawa syndrome
Variation info
Gene TH MIR4686
CLNDBN Segawa syndrome, autosomal recessive
Reversed 1
HGVS NC_000011.9:g.2193005dupG
CLNSRC
CLNACC RCV000410048.1,