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rs74315396

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs74315396(A;G)
Make rs74315396(G;G)
ReferenceGRCh38 38.1/141
Chromosome20
Position10413405
GeneMKKS
is asnp
is mentioned by
dbSNPrs74315396
ebirs74315396
HLIrs74315396
Exacrs74315396
Varsomers74315396
Maprs74315396
PheGenIrs74315396
hapmaprs74315396
1000 genomesrs74315396
hgdprs74315396
ensemblrs74315396
gopubmedrs74315396
geneviewrs74315396
scholarrs74315396
googlers74315396
pharmgkbrs74315396
gwascentralrs74315396
openSNPrs74315396
23andMers74315396
23andMe allrs74315396
SNP Nexus

SNPshotrs74315396
SNPdbers74315396
MSV3drs74315396
GWAS Ctlgrs74315396
Max Magnitude0
OMIM604896
Desc
Variant0003
Relatedalso
ClinVar
Risk rs74315396(G;G)
Alt rs74315396(G;G)
Reference rs74315396(A;A)
Significance Pathogenic
Disease McKusick Kaufman syndrome Bardet-Biedl syndrome 6 Bardet-biedl syndrome 2/6
Variation info
Gene MKKS
CLNDBN McKusick Kaufman syndrome Bardet-Biedl syndrome 6 Bardet-biedl syndrome 2/6, digenic
Reversed 1
HGVS NC_000020.10:g.10394053T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000005633.5, RCV000005634.4, RCV000144678.3,