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rs113994196

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs113994196(-;-)
Make rs113994196(-;CCTG)
Make rs113994196(CCTG;CCTG)
ReferenceGRCh38 38.1/141
Chromosome20
Position10412638
GeneMKKS
is asnp
is mentioned by
dbSNPrs113994196
ebirs113994196
HLIrs113994196
Exacrs113994196
Varsomers113994196
Maprs113994196
PheGenIrs113994196
hapmaprs113994196
1000 genomesrs113994196
hgdprs113994196
ensemblrs113994196
gopubmedrs113994196
geneviewrs113994196
scholarrs113994196
googlers113994196
pharmgkbrs113994196
gwascentralrs113994196
openSNPrs113994196
23andMers113994196
23andMe allrs113994196
SNP Nexus

SNPshotrs113994196
SNPdbers113994196
MSV3drs113994196
GWAS Ctlgrs113994196
Max Magnitude0
ClinVar
Risk rs113994196(CCTG;CCTG)
Alt rs113994196(CCTG;CCTG)
Reference rs113994196(;)
Significance Pathogenic
Disease Bardet-Biedl syndrome
Variation info
Gene MKKS
CLNDBN Bardet-Biedl syndrome
Reversed 1
HGVS NC_000020.10:g.10393286_10393287insCAGG
CLNSRC ClinVar GeneReviews
CLNACC RCV000020862.1,


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