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rs113994195

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TTAGTAGTACT;TTAGTAGTACT) 0 common in clinvar
Make rs113994195(-;-)
Make rs113994195(-;TTAGTAGTACT)
ReferenceGRCh38 38.1/141
Chromosome20
Position10413074
GeneMKKS
is asnp
is mentioned by
dbSNPrs113994195
ebirs113994195
HLIrs113994195
Exacrs113994195
Varsomers113994195
Maprs113994195
PheGenIrs113994195
hapmaprs113994195
1000 genomesrs113994195
hgdprs113994195
ensemblrs113994195
gopubmedrs113994195
geneviewrs113994195
scholarrs113994195
googlers113994195
pharmgkbrs113994195
gwascentralrs113994195
openSNPrs113994195
23andMers113994195
23andMe allrs113994195
SNP Nexus

SNPshotrs113994195
SNPdbers113994195
MSV3drs113994195
GWAS Ctlgrs113994195
Max Magnitude0
ClinVar
Risk rs113994195(;)
Alt rs113994195(;)
Reference rs113994195(TTAGTAGTACT;TTAGTAGTACT)
Significance Pathogenic
Disease Bardet-Biedl syndrome
Variation info
Gene MKKS
CLNDBN Bardet-Biedl syndrome
Reversed 1
HGVS NC_000020.10:g.10393722_10393732delAGTACTACTAA
CLNSRC ClinVar GeneReviews
CLNACC RCV000020860.1,


[PMID 12107442] Mutation analysis of the MKKS gene in McKusick-Kaufman syndrome and selected Bardet-Biedl syndrome patients.