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rs137853154

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137853154(C;T)
Make rs137853154(T;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position10413073
GeneMKKS
is asnp
is mentioned by
dbSNPrs137853154
ebirs137853154
HLIrs137853154
Exacrs137853154
Varsomers137853154
Maprs137853154
PheGenIrs137853154
hapmaprs137853154
1000 genomesrs137853154
hgdprs137853154
ensemblrs137853154
gopubmedrs137853154
geneviewrs137853154
scholarrs137853154
googlers137853154
pharmgkbrs137853154
gwascentralrs137853154
openSNPrs137853154
23andMers137853154
23andMe allrs137853154
SNP Nexus

SNPshotrs137853154
SNPdbers137853154
MSV3drs137853154
GWAS Ctlgrs137853154
Max Magnitude0
OMIM604896
Desc
Variant0012
Relatedalso
ClinVar
Risk rs137853154(T;T)
Alt rs137853154(T;T)
Reference rs137853154(C;C)
Significance Pathogenic
Disease Bardet-biedl syndrome 2/6
Variation info
Gene MKKS
CLNDBN Bardet-biedl syndrome 2/6, digenic
Reversed 1
HGVS NC_000020.10:g.10393721G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000005643.3,