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rs386834047

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CT;CT) 0 common in clinvar
Make rs386834047(-;-)
Make rs386834047(-;CT)
ReferenceGRCh38 38.1/141
Chromosome17
Position58216112
GeneMKS1
is asnp
is mentioned by
dbSNPrs386834047
ebirs386834047
HLIrs386834047
Exacrs386834047
Varsomers386834047
Maprs386834047
PheGenIrs386834047
hapmaprs386834047
1000 genomesrs386834047
hgdprs386834047
ensemblrs386834047
gopubmedrs386834047
geneviewrs386834047
scholarrs386834047
googlers386834047
pharmgkbrs386834047
gwascentralrs386834047
openSNPrs386834047
23andMers386834047
23andMe allrs386834047
SNP Nexus

SNPshotrs386834047
SNPdbers386834047
MSV3drs386834047
GWAS Ctlgrs386834047
Max Magnitude0
ClinVar
Risk rs386834047(;)
Alt rs386834047(;)
Reference rs386834047(CT;CT)
Significance Probable-Pathogenic
Disease Meckel syndrome type 1
Variation info
Gene MKS1
CLNDBN Meckel syndrome type 1
Reversed 1
HGVS NC_000017.10:g.56293473_56293474delAG
CLNSRC ClinVar
CLNACC RCV000050033.1,


[PMID 19466712OA-icon.png] Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups?