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rs104893743

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104893743(A;A)
Make rs104893743(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position50302155
GeneHYAL1
is asnp
is mentioned by
dbSNPrs104893743
ebirs104893743
HLIrs104893743
Exacrs104893743
Varsomers104893743
Maprs104893743
PheGenIrs104893743
hapmaprs104893743
1000 genomesrs104893743
hgdprs104893743
ensemblrs104893743
gopubmedrs104893743
geneviewrs104893743
scholarrs104893743
googlers104893743
pharmgkbrs104893743
gwascentralrs104893743
openSNPrs104893743
23andMers104893743
23andMe allrs104893743
SNP Nexus

SNPshotrs104893743
SNPdbers104893743
MSV3drs104893743
GWAS Ctlgrs104893743
Max Magnitude0
OMIM607071
Desc
Variant0001
Relatedalso
ClinVar
Risk rs104893743(A;A)
Alt rs104893743(A;A)
Reference rs104893743(G;G)
Significance Pathogenic
Disease Deficiency of hyaluronoglucosaminidase
Variation info
Gene HYAL1
CLNDBN Deficiency of hyaluronoglucosaminidase
Reversed 1
HGVS NC_000003.11:g.50339586C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000003708.4,