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rs74315399

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs74315399(A;G)
Make rs74315399(G;G)
ReferenceGRCh38 38.1/141
Chromosome20
Position10413346
GeneMKKS
is asnp
is mentioned by
dbSNPrs74315399
ebirs74315399
HLIrs74315399
Exacrs74315399
Varsomers74315399
Maprs74315399
PheGenIrs74315399
hapmaprs74315399
1000 genomesrs74315399
hgdprs74315399
ensemblrs74315399
gopubmedrs74315399
geneviewrs74315399
scholarrs74315399
googlers74315399
pharmgkbrs74315399
gwascentralrs74315399
openSNPrs74315399
23andMers74315399
23andMe allrs74315399
SNP Nexus

SNPshotrs74315399
SNPdbers74315399
MSV3drs74315399
GWAS Ctlgrs74315399
Max Magnitude0
OMIM604896
Desc
Variant0010
Relatedalso
ClinVar
Risk rs74315399(G;G)
Alt rs74315399(G;G)
Reference rs74315399(A;A)
Significance Pathogenic
Disease Bardet-Biedl syndrome 6
Variation info
Gene MKKS
CLNDBN Bardet-Biedl syndrome 6
Reversed 1
HGVS NC_000020.10:g.10393994T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000005641.4,