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rs74315400

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs74315400(C;C)
Make rs74315400(C;G)
ReferenceGRCh37 37.1/132
Chromosome20
Position10386112
GeneMKKS
is asnp
is mentioned by
dbSNPrs74315400
ebirs74315400
HLIrs74315400
Exacrs74315400
Varsomers74315400
Maprs74315400
PheGenIrs74315400
hapmaprs74315400
1000 genomesrs74315400
hgdprs74315400
ensemblrs74315400
gopubmedrs74315400
geneviewrs74315400
scholarrs74315400
googlers74315400
pharmgkbrs74315400
gwascentralrs74315400
openSNPrs74315400
23andMers74315400
23andMe allrs74315400
SNP Nexus

SNPshotrs74315400
SNPdbers74315400
MSV3drs74315400
GWAS Ctlgrs74315400
StatusDeleted
Max Magnitude0
OMIM604896
Desc
Variant0013
Relatedalso
ClinVar
Risk rs74315400(C;C)
Alt rs74315400(C;C)
Reference rs74315400(G;G)
Significance Pathogenic
Disease Bardet-Biedl syndrome 6
Variation info
Gene MKKS
CLNDBN Bardet-Biedl syndrome 6
Reversed 1
HGVS NC_000020.10:g.10386112C>G
CLNSRC OMIM Allelic Variant
CLNACC SCV000025826.1, SCV000025826.1,