Have questions? Visit https://www.reddit.com/r/SNPedia

rs386834048

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386834048(A;A)
Make rs386834048(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position58216088
GeneMKS1
is asnp
is mentioned by
dbSNPrs386834048
ebirs386834048
HLIrs386834048
Exacrs386834048
Varsomers386834048
Maprs386834048
PheGenIrs386834048
hapmaprs386834048
1000 genomesrs386834048
hgdprs386834048
ensemblrs386834048
gopubmedrs386834048
geneviewrs386834048
scholarrs386834048
googlers386834048
pharmgkbrs386834048
gwascentralrs386834048
openSNPrs386834048
23andMers386834048
23andMe allrs386834048
SNP Nexus

SNPshotrs386834048
SNPdbers386834048
MSV3drs386834048
GWAS Ctlgrs386834048
Max Magnitude0
ClinVar
Risk rs386834048(A;A)
Alt rs386834048(A;A)
Reference rs386834048(G;G)
Significance Other
Disease Meckel syndrome type 1 Joubert syndrome
Variation info
Gene MKS1
CLNDBN Meckel syndrome type 1 Joubert syndrome
Reversed 1
HGVS NC_000017.10:g.56293449C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000022415.4, RCV000201633.1,


[PMID 17377820] Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3.


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


[PMID 17437276] Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndrome.