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rs74315394

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs74315394(G;T)
Make rs74315394(T;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position10412791
GeneMKKS
is asnp
is mentioned by
dbSNPrs74315394
ebirs74315394
HLIrs74315394
Exacrs74315394
Varsomers74315394
Maprs74315394
PheGenIrs74315394
hapmaprs74315394
1000 genomesrs74315394
hgdprs74315394
ensemblrs74315394
gopubmedrs74315394
geneviewrs74315394
scholarrs74315394
googlers74315394
pharmgkbrs74315394
gwascentralrs74315394
openSNPrs74315394
23andMers74315394
23andMe allrs74315394
SNP Nexus

SNPshotrs74315394
SNPdbers74315394
MSV3drs74315394
GWAS Ctlgrs74315394
GMAF0.002755
Max Magnitude0
OMIM604896
Desc
Variant0001
Relatedalso
ClinVar
Risk rs74315394(T;T)
Alt rs74315394(T;T)
Reference rs74315394(G;G)
Significance Pathogenic
Disease McKusick Kaufman syndrome not provided
Variation info
Gene MKKS
CLNDBN McKusick Kaufman syndrome not provided
Reversed 1
HGVS NC_000020.10:g.10393439C>A
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000005632.3, RCV000153503.3,