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rs74315395

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs74315395(C;T)
Make rs74315395(T;T)
ReferenceGRCh37 37.1/132
Chromosome20
Position10393913
GeneMKKS
is asnp
is mentioned by
dbSNPrs74315395
ebirs74315395
HLIrs74315395
Exacrs74315395
Varsomers74315395
Maprs74315395
PheGenIrs74315395
hapmaprs74315395
1000 genomesrs74315395
hgdprs74315395
ensemblrs74315395
gopubmedrs74315395
geneviewrs74315395
scholarrs74315395
googlers74315395
pharmgkbrs74315395
gwascentralrs74315395
openSNPrs74315395
23andMers74315395
23andMe allrs74315395
SNP Nexus

SNPshotrs74315395
SNPdbers74315395
MSV3drs74315395
GWAS Ctlgrs74315395
StatusDeleted
Max Magnitude0
OMIM604896
Desc
Variant0001
Relatedalso
ClinVar
Risk rs74315395(T;T)
Alt rs74315395(T;T)
Reference rs74315395(C;C)
Significance Pathogenic
Disease McKusick Kaufman syndrome
Variation info
Gene MKKS
CLNDBN McKusick Kaufman syndrome
Reversed 1
HGVS NC_000020.10:g.10393913G>A
CLNSRC OMIM Allelic Variant
CLNACC SCV000025814.1,