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rs386834051

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs386834051(-;-)
Make rs386834051(-;CCGGG)
Make rs386834051(CCGGG;CCGGG)
ReferenceGRCh38 38.1/141
Chromosome17
Position58219175
GeneMKS1
is asnp
is mentioned by
dbSNPrs386834051
ebirs386834051
HLIrs386834051
Exacrs386834051
Varsomers386834051
Maprs386834051
PheGenIrs386834051
hapmaprs386834051
1000 genomesrs386834051
hgdprs386834051
ensemblrs386834051
gopubmedrs386834051
geneviewrs386834051
scholarrs386834051
googlers386834051
pharmgkbrs386834051
gwascentralrs386834051
openSNPrs386834051
23andMers386834051
23andMe allrs386834051
SNP Nexus

SNPshotrs386834051
SNPdbers386834051
MSV3drs386834051
GWAS Ctlgrs386834051
Max Magnitude0
ClinVar
Risk rs386834051(CCGGG;CCGGG)
Alt rs386834051(CCGGG;CCGGG)
Reference rs386834051(;)
Significance Probable-Pathogenic
Disease Meckel syndrome type 1
Variation info
Gene MKS1
CLNDBN Meckel syndrome type 1
Reversed 1
HGVS NC_000017.10:g.56296537_56296541dupCCCGG
CLNSRC ClinVar
CLNACC RCV000050038.1,


[PMID 16415886] MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome.