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rs386834044

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs386834044(-;-)
Make rs386834044(-;GGCA)
Make rs386834044(GGCA;GGCA)
ReferenceGRCh38 38.1/141
Chromosome17
Position58206501
GeneMKS1
is asnp
is mentioned by
dbSNPrs386834044
ebirs386834044
HLIrs386834044
Exacrs386834044
Varsomers386834044
Maprs386834044
PheGenIrs386834044
hapmaprs386834044
1000 genomesrs386834044
hgdprs386834044
ensemblrs386834044
gopubmedrs386834044
geneviewrs386834044
scholarrs386834044
googlers386834044
pharmgkbrs386834044
gwascentralrs386834044
openSNPrs386834044
23andMers386834044
23andMe allrs386834044
SNP Nexus

SNPshotrs386834044
SNPdbers386834044
MSV3drs386834044
GWAS Ctlgrs386834044
Max Magnitude0
ClinVar
Risk rs386834044(GGCA;GGCA)
Alt rs386834044(GGCA;GGCA)
Reference rs386834044(;)
Significance Pathogenic
Disease Meckel syndrome type 1 Familial aplasia of the vermis
Variation info
Gene MKS1
CLNDBN Meckel syndrome type 1 Familial aplasia of the vermis
Reversed 1
HGVS NC_000017.10:g.56283863_56283866dupTGCC
CLNSRC ClinVar
CLNACC RCV000050030.1, RCV000230084.1,


[PMID 17185389] The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation.


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