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rs386834046

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(ACTGCCA;ACTGCCA) 0 common in clinvar
Make rs386834046(-;-)
Make rs386834046(-;ACTGCCA)
ReferenceGRCh38 38.1/141
Chromosome17
Position58218620
GeneMKS1
is asnp
is mentioned by
dbSNPrs386834046
ebirs386834046
HLIrs386834046
Exacrs386834046
Varsomers386834046
Maprs386834046
PheGenIrs386834046
hapmaprs386834046
1000 genomesrs386834046
hgdprs386834046
ensemblrs386834046
gopubmedrs386834046
geneviewrs386834046
scholarrs386834046
googlers386834046
pharmgkbrs386834046
gwascentralrs386834046
openSNPrs386834046
23andMers386834046
23andMe allrs386834046
SNP Nexus

SNPshotrs386834046
SNPdbers386834046
MSV3drs386834046
GWAS Ctlgrs386834046
Max Magnitude0
ClinVar
Risk rs386834046(;)
Alt rs386834046(;)
Reference rs386834046(ACTGCCA;ACTGCCA)
Significance Probable-Pathogenic
Disease Meckel syndrome type 1
Variation info
Gene MKS1
CLNDBN Meckel syndrome type 1
Reversed 1
HGVS NC_000017.10:g.56295981_56295987delTGGCAGT
CLNSRC ClinVar
CLNACC RCV000050032.1,


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