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rs386834049

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386834049(C;T)
Make rs386834049(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position58214832
GeneMKS1
is asnp
is mentioned by
dbSNPrs386834049
ebirs386834049
HLIrs386834049
Exacrs386834049
Varsomers386834049
Maprs386834049
PheGenIrs386834049
hapmaprs386834049
1000 genomesrs386834049
hgdprs386834049
ensemblrs386834049
gopubmedrs386834049
geneviewrs386834049
scholarrs386834049
googlers386834049
pharmgkbrs386834049
gwascentralrs386834049
openSNPrs386834049
23andMers386834049
23andMe allrs386834049
SNP Nexus

SNPshotrs386834049
SNPdbers386834049
MSV3drs386834049
GWAS Ctlgrs386834049
Max Magnitude0
ClinVar
Risk rs386834049(T;T)
Alt rs386834049(T;T)
Reference rs386834049(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.56292193G>A
CLNSRC ClinVar
CLNACC RCV000050035.1,


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