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rs386834042

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs386834042(-;-)
Make rs386834042(-;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position58207083
GeneMKS1
is asnp
is mentioned by
dbSNPrs386834042
ebirs386834042
HLIrs386834042
Exacrs386834042
Varsomers386834042
Maprs386834042
PheGenIrs386834042
hapmaprs386834042
1000 genomesrs386834042
hgdprs386834042
ensemblrs386834042
gopubmedrs386834042
geneviewrs386834042
scholarrs386834042
googlers386834042
pharmgkbrs386834042
gwascentralrs386834042
openSNPrs386834042
23andMers386834042
23andMe allrs386834042
SNP Nexus

SNPshotrs386834042
SNPdbers386834042
MSV3drs386834042
GWAS Ctlgrs386834042
Max Magnitude0
ClinVar
Risk rs386834042(;)
Alt rs386834042(;)
Reference rs386834042(T;T)
Significance Probable-Pathogenic
Disease Meckel syndrome type 1
Variation info
Gene MKS1
CLNDBN Meckel syndrome type 1
Reversed 1
HGVS NC_000017.10:g.56284444delA
CLNSRC ClinVar
CLNACC RCV000050028.1,


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