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rs74315398

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs74315398(C;C)
Make rs74315398(C;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position10412685
GeneMKKS
is asnp
is mentioned by
dbSNPrs74315398
dbSNP (classic)rs74315398
ClinGenrs74315398
ebirs74315398
HLIrs74315398
Exacrs74315398
Gnomadrs74315398
Varsomers74315398
LitVarrs74315398
Maprs74315398
PheGenIrs74315398
Biobankrs74315398
1000 genomesrs74315398
hgdprs74315398
ensemblrs74315398
geneviewrs74315398
scholarrs74315398
googlers74315398
pharmgkbrs74315398
gwascentralrs74315398
openSNPrs74315398
23andMers74315398
SNPshotrs74315398
SNPdbers74315398
MSV3drs74315398
GWAS Ctlgrs74315398
Max Magnitude0
OMIM604896
Desc
Variant0008
Relatedalso
ClinVar
Risk rs74315398(C;C)
Alt rs74315398(C;C)
Reference Rs74315398(T;T)
Significance Pathogenic
Disease Bardet-Biedl syndrome 6 not specified not provided
Variation info
Gene MKKS
CLNDBN Bardet-Biedl syndrome 6 not specified not provided
Reversed 1
HGVS NC_000020.10:g.10393333A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000005639.4, RCV000177307.1, RCV000481638.1,