Have questions? Visit https://www.reddit.com/r/SNPedia

rs112029032

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs112029032(A;A)
Make rs112029032(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome8
Position43199504
GeneHGSNAT
is asnp
is mentioned by
dbSNPrs112029032
ebirs112029032
HLIrs112029032
Exacrs112029032
Varsomers112029032
Maprs112029032
PheGenIrs112029032
hapmaprs112029032
1000 genomesrs112029032
hgdprs112029032
ensemblrs112029032
gopubmedrs112029032
geneviewrs112029032
scholarrs112029032
googlers112029032
pharmgkbrs112029032
gwascentralrs112029032
openSNPrs112029032
23andMers112029032
23andMe allrs112029032
SNP Nexus

SNPshotrs112029032
SNPdbers112029032
MSV3drs112029032
GWAS Ctlgrs112029032
Max Magnitude0
ClinVar
Risk rs112029032(A;A)
Alt rs112029032(A;A)
Reference rs112029032(G;G)
Significance Pathogenic
Disease Retinitis pigmentosa 73 Mucopolysaccharidosis not provided
Variation info
Gene HGSNAT LOC101929678
CLNDBN Retinitis pigmentosa 73 Mucopolysaccharidosis, MPS-III-C not provided
Reversed 0
HGVS NC_000008.10:g.43054647G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000190844.2, RCV000190845.2, RCV000224674.1,