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rs377519272

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs377519272(A;A)
Make rs377519272(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome7
Position65967767
GeneGUSB
is asnp
is mentioned by
dbSNPrs377519272
ebirs377519272
HLIrs377519272
Exacrs377519272
Varsomers377519272
Maprs377519272
PheGenIrs377519272
hapmaprs377519272
1000 genomesrs377519272
hgdprs377519272
ensemblrs377519272
gopubmedrs377519272
geneviewrs377519272
scholarrs377519272
googlers377519272
pharmgkbrs377519272
gwascentralrs377519272
openSNPrs377519272
23andMers377519272
23andMe allrs377519272
SNP Nexus

SNPshotrs377519272
SNPdbers377519272
MSV3drs377519272
GWAS Ctlgrs377519272
Max Magnitude0
ClinVar
Risk rs377519272(A;A)
Alt rs377519272(A;A)
Reference rs377519272(G;G)
Significance Pathogenic
Disease Mucopolysaccharidosis type VII
Variation info
Gene GUSB
CLNDBN Mucopolysaccharidosis type VII
Reversed 0
HGVS NC_000007.13:g.65432754G>A
CLNSRC OMIM Allelic Variant dbVar
CLNACC RCV000000949.4,