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rs201933838

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs201933838(C;T)
Make rs201933838(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position58214740
GeneMKS1
is asnp
is mentioned by
dbSNPrs201933838
ebirs201933838
HLIrs201933838
Exacrs201933838
Varsomers201933838
Maprs201933838
PheGenIrs201933838
hapmaprs201933838
1000 genomesrs201933838
hgdprs201933838
ensemblrs201933838
gopubmedrs201933838
geneviewrs201933838
scholarrs201933838
googlers201933838
pharmgkbrs201933838
gwascentralrs201933838
openSNPrs201933838
23andMers201933838
23andMe allrs201933838
SNP Nexus

SNPshotrs201933838
SNPdbers201933838
MSV3drs201933838
GWAS Ctlgrs201933838
GMAF0.0
Max Magnitude0
ClinVar
Risk rs201933838(T;T)
Alt rs201933838(T;T)
Reference rs201933838(C;C)
Significance Probable-Pathogenic
Disease Meckel syndrome type 1
Variation info
Gene MKS1
CLNDBN Meckel syndrome type 1
Reversed 0
HGVS NC_000017.10:g.56292101C>T
CLNSRC ClinVar
CLNACC RCV000050037.1,


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