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rs137853105

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs137853105(G;G)
Make rs137853105(G;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position58206479
GeneMKS1
is asnp
is mentioned by
dbSNPrs137853105
ebirs137853105
HLIrs137853105
Exacrs137853105
Varsomers137853105
Maprs137853105
PheGenIrs137853105
hapmaprs137853105
1000 genomesrs137853105
hgdprs137853105
ensemblrs137853105
gopubmedrs137853105
geneviewrs137853105
scholarrs137853105
googlers137853105
pharmgkbrs137853105
gwascentralrs137853105
openSNPrs137853105
23andMers137853105
23andMe allrs137853105
SNP Nexus

SNPshotrs137853105
SNPdbers137853105
MSV3drs137853105
GWAS Ctlgrs137853105
Max Magnitude0
OMIM609883
Desc
Variant0006
Relatedalso
ClinVar
Risk rs137853105(G;G)
Alt rs137853105(G;G)
Reference rs137853105(T;T)
Significance Pathogenic
Disease Bardet-Biedl syndrome 13
Variation info
Gene MKS1
CLNDBN Bardet-Biedl syndrome 13
Reversed 1
HGVS NC_000017.10:g.56283840A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000001458.4,