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rs386834052

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs386834052(C;C)
Make rs386834052(C;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position58219149
GeneMKS1
is asnp
is mentioned by
dbSNPrs386834052
ebirs386834052
HLIrs386834052
Exacrs386834052
Varsomers386834052
Maprs386834052
PheGenIrs386834052
hapmaprs386834052
1000 genomesrs386834052
hgdprs386834052
ensemblrs386834052
gopubmedrs386834052
geneviewrs386834052
scholarrs386834052
googlers386834052
pharmgkbrs386834052
gwascentralrs386834052
openSNPrs386834052
23andMers386834052
23andMe allrs386834052
SNP Nexus

SNPshotrs386834052
SNPdbers386834052
MSV3drs386834052
GWAS Ctlgrs386834052
Max Magnitude0
ClinVar
Risk rs386834052(C;C)
Alt rs386834052(C;C)
Reference rs386834052(T;T)
Significance Other
Disease Meckel syndrome type 1
Variation info
Gene MKS1
CLNDBN Meckel syndrome type 1
Reversed 1
HGVS NC_000017.10:g.56296510A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000022413.5,


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