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rs386834045

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386834045(A;A)
Make rs386834045(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position58206465
GeneMKS1
is asnp
is mentioned by
dbSNPrs386834045
ebirs386834045
HLIrs386834045
Exacrs386834045
Varsomers386834045
Maprs386834045
PheGenIrs386834045
hapmaprs386834045
1000 genomesrs386834045
hgdprs386834045
ensemblrs386834045
gopubmedrs386834045
geneviewrs386834045
scholarrs386834045
googlers386834045
pharmgkbrs386834045
gwascentralrs386834045
openSNPrs386834045
23andMers386834045
23andMe allrs386834045
SNP Nexus

SNPshotrs386834045
SNPdbers386834045
MSV3drs386834045
GWAS Ctlgrs386834045
Max Magnitude0
ClinVar
Risk rs386834045(A;A)
Alt rs386834045(A;A)
Reference rs386834045(G;G)
Significance Probable-Pathogenic
Disease Meckel syndrome type 1
Variation info
Gene MKS1
CLNDBN Meckel syndrome type 1
Reversed 1
HGVS NC_000017.10:g.56283826C>T
CLNSRC ClinVar
CLNACC RCV000050031.1,


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