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rs137853156

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs137853156(A;C)
Make rs137853156(C;C)
ReferenceGRCh38 38.1/141
Chromosome20
Position10412542
GeneMKKS
is asnp
is mentioned by
dbSNPrs137853156
dbSNP (classic)rs137853156
ClinGenrs137853156
ebirs137853156
HLIrs137853156
Exacrs137853156
Gnomadrs137853156
Varsomers137853156
LitVarrs137853156
Maprs137853156
PheGenIrs137853156
Biobankrs137853156
1000 genomesrs137853156
hgdprs137853156
ensemblrs137853156
geneviewrs137853156
scholarrs137853156
googlers137853156
pharmgkbrs137853156
gwascentralrs137853156
openSNPrs137853156
23andMers137853156
SNPshotrs137853156
SNPdbers137853156
MSV3drs137853156
GWAS Ctlgrs137853156
Max Magnitude0
OMIM604896
Desc
Variant0014
Relatedalso
ClinVar
Risk rs137853156(C;C)
Alt rs137853156(C;C)
Reference Rs137853156(A;A)
Significance Other
Disease Bardet-Biedl syndrome 1
Variation info
Gene MKKS
CLNDBN Bardet-Biedl syndrome 1, modifier of
Reversed 1
HGVS NC_000020.10:g.10393190T>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000005645.3,