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rs1057516054

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057516054(G;G)
Make rs1057516054(G;T)
ReferenceGRCh38.p7 38.3/150
Chromosome20
Position10405626
GeneMKKS
is asnp
is mentioned by
dbSNPrs1057516054
dbSNP (old)rs1057516054
ClinGenrs1057516054
ebirs1057516054
HLIrs1057516054
Exacrs1057516054
Gnomadrs1057516054
Varsomers1057516054
Maprs1057516054
PheGenIrs1057516054
Biobankrs1057516054
1000 genomesrs1057516054
hgdprs1057516054
ensemblrs1057516054
gopubmedrs1057516054
geneviewrs1057516054
scholarrs1057516054
googlers1057516054
pharmgkbrs1057516054
gwascentralrs1057516054
openSNPrs1057516054
23andMers1057516054
23andMe allrs1057516054
SNPshotrs1057516054
SNPdbers1057516054
MSV3drs1057516054
GWAS Ctlgrs1057516054
Max Magnitude0
ClinVar
Risk rs1057516054(G;G)
Alt rs1057516054(G;G)
Reference Rs1057516054(T;T)
Significance Pathogenic
Disease McKusick Kaufman syndrome
Variation info
Gene MKKS
CLNDBN McKusick Kaufman syndrome
Reversed 1
HGVS NC_000020.10:g.10386274A>C
CLNSRC
CLNACC RCV000408846.1,