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rs386834050

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386834050(C;T)
Make rs386834050(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position58214784
GeneMKS1
is asnp
is mentioned by
dbSNPrs386834050
ebirs386834050
HLIrs386834050
Exacrs386834050
Varsomers386834050
Maprs386834050
PheGenIrs386834050
hapmaprs386834050
1000 genomesrs386834050
hgdprs386834050
ensemblrs386834050
gopubmedrs386834050
geneviewrs386834050
scholarrs386834050
googlers386834050
pharmgkbrs386834050
gwascentralrs386834050
openSNPrs386834050
23andMers386834050
23andMe allrs386834050
SNP Nexus

SNPshotrs386834050
SNPdbers386834050
MSV3drs386834050
GWAS Ctlgrs386834050
Max Magnitude0
ClinVar
Risk rs386834050(T;T)
Alt rs386834050(T;T)
Reference rs386834050(C;C)
Significance Probable-Pathogenic
Disease Meckel syndrome type 1
Variation info
Gene MKS1
CLNDBN Meckel syndrome type 1
Reversed 1
HGVS NC_000017.10:g.56292145G>A
CLNSRC ClinVar
CLNACC RCV000050036.1,


[PMID 17397051] Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online.