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rs199874059

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199874059(C;T)
Make rs199874059(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position58210658
GeneMKS1
is asnp
is mentioned by
dbSNPrs199874059
ebirs199874059
HLIrs199874059
Exacrs199874059
Varsomers199874059
Maprs199874059
PheGenIrs199874059
hapmaprs199874059
1000 genomesrs199874059
hgdprs199874059
ensemblrs199874059
gopubmedrs199874059
geneviewrs199874059
scholarrs199874059
googlers199874059
pharmgkbrs199874059
gwascentralrs199874059
openSNPrs199874059
23andMers199874059
23andMe allrs199874059
SNP Nexus

SNPshotrs199874059
SNPdbers199874059
MSV3drs199874059
GWAS Ctlgrs199874059
GMAF0.0
Max Magnitude0
ClinVar
Risk rs199874059(T;T)
Alt rs199874059(T;T)
Reference rs199874059(C;C)
Significance Other
Disease Meckel syndrome type 1
Variation info
Gene MKS1
CLNDBN Meckel syndrome type 1
Reversed 0
HGVS NC_000017.10:g.56288019C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000022414.4,


[PMID 17377820] Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3.