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rs74315397

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs74315397(A;A)
Make rs74315397(A;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position10412723
GeneMKKS
is asnp
is mentioned by
dbSNPrs74315397
ebirs74315397
HLIrs74315397
Exacrs74315397
Varsomers74315397
Maprs74315397
PheGenIrs74315397
hapmaprs74315397
1000 genomesrs74315397
hgdprs74315397
ensemblrs74315397
gopubmedrs74315397
geneviewrs74315397
scholarrs74315397
googlers74315397
pharmgkbrs74315397
gwascentralrs74315397
openSNPrs74315397
23andMers74315397
23andMe allrs74315397
SNP Nexus

SNPshotrs74315397
SNPdbers74315397
MSV3drs74315397
GWAS Ctlgrs74315397
Max Magnitude0
OMIM604896
Desc
Variant0006
Relatedalso
ClinVar
Risk rs74315397(A,C;A,C)
Alt rs74315397(A,C;A,C)
Reference rs74315397(T;T)
Significance Pathogenic
Disease Bardet-Biedl syndrome 6
Variation info
Gene MKKS
CLNDBN Bardet-Biedl syndrome 6
Reversed 1
HGVS NC_000020.10:g.10393371A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000005637.3,