Have questions? Visit https://www.reddit.com/r/SNPedia

rs386834053

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386834053(A;A)
Make rs386834053(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position58210980
GeneMKS1
is asnp
is mentioned by
dbSNPrs386834053
ebirs386834053
HLIrs386834053
Exacrs386834053
Varsomers386834053
Maprs386834053
PheGenIrs386834053
hapmaprs386834053
1000 genomesrs386834053
hgdprs386834053
ensemblrs386834053
gopubmedrs386834053
geneviewrs386834053
scholarrs386834053
googlers386834053
pharmgkbrs386834053
gwascentralrs386834053
openSNPrs386834053
23andMers386834053
23andMe allrs386834053
SNP Nexus

SNPshotrs386834053
SNPdbers386834053
MSV3drs386834053
GWAS Ctlgrs386834053
Max Magnitude0
ClinVar
Risk rs386834053(A;A)
Alt rs386834053(A;A)
Reference rs386834053(G;G)
Significance Probable-Pathogenic
Disease Meckel syndrome type 1
Variation info
Gene MKS1
CLNDBN Meckel syndrome type 1
Reversed 1
HGVS NC_000017.10:g.56288341C>T
CLNSRC ClinVar
CLNACC RCV000050040.1,


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