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rs386834041

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386834041(C;G)
Make rs386834041(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position58208560
GeneMKS1
is asnp
is mentioned by
dbSNPrs386834041
ebirs386834041
HLIrs386834041
Exacrs386834041
Varsomers386834041
Maprs386834041
PheGenIrs386834041
hapmaprs386834041
1000 genomesrs386834041
hgdprs386834041
ensemblrs386834041
gopubmedrs386834041
geneviewrs386834041
scholarrs386834041
googlers386834041
pharmgkbrs386834041
gwascentralrs386834041
openSNPrs386834041
23andMers386834041
23andMe allrs386834041
SNP Nexus

SNPshotrs386834041
SNPdbers386834041
MSV3drs386834041
GWAS Ctlgrs386834041
Max Magnitude0
ClinVar
Risk rs386834041(G,T;G,T)
Alt rs386834041(G,T;G,T)
Reference rs386834041(C;C)
Significance Probable-Pathogenic
Disease Meckel syndrome type 1
Variation info
Gene MKS1
CLNDBN Meckel syndrome type 1
Reversed 1
HGVS NC_000017.10:g.56285921G>A; NC_000017.10:g.56285921G>C
CLNSRC ClinVar
CLNACC RCV000050027.1, RCV000050026.1,


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