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rs145584597

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs145584597(C;T)
Make rs145584597(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome7
Position100960259
GeneLOC105375431, MUC3A
is asnp
is mentioned by
dbSNPrs145584597
ebirs145584597
HLIrs145584597
Exacrs145584597
Varsomers145584597
Maprs145584597
PheGenIrs145584597
hapmaprs145584597
1000 genomesrs145584597
hgdprs145584597
ensemblrs145584597
gopubmedrs145584597
geneviewrs145584597
scholarrs145584597
googlers145584597
pharmgkbrs145584597
gwascentralrs145584597
openSNPrs145584597
23andMers145584597
23andMe allrs145584597
SNP Nexus

SNPshotrs145584597
SNPdbers145584597
MSV3drs145584597
GWAS Ctlgrs145584597
Max Magnitude0
ClinVar
Risk rs145584597(T;T)
Alt rs145584597(T;T)
Reference rs145584597(C;C)
Significance Pathogenic
Disease Hypertrichotic osteochondrodysplasia
Variation info
Gene MUC3A
CLNDBN Hypertrichotic osteochondrodysplasia
Reversed 0
HGVS NC_000007.13:g.100552388C>T
CLNSRC
CLNACC RCV000202618.1,