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rs119461975

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs119461975(C;T)
Make rs119461975(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position64728988
GeneGNS
is asnp
is mentioned by
dbSNPrs119461975
ebirs119461975
HLIrs119461975
Exacrs119461975
Varsomers119461975
Maprs119461975
PheGenIrs119461975
hapmaprs119461975
1000 genomesrs119461975
hgdprs119461975
ensemblrs119461975
gopubmedrs119461975
geneviewrs119461975
scholarrs119461975
googlers119461975
pharmgkbrs119461975
gwascentralrs119461975
openSNPrs119461975
23andMers119461975
23andMe allrs119461975
SNP Nexus

SNPshotrs119461975
SNPdbers119461975
MSV3drs119461975
GWAS Ctlgrs119461975
Max Magnitude0
OMIM607664
Desc
Variant0003
Relatedalso
ClinVar
Risk rs119461975(T;T)
Alt rs119461975(T;T)
Reference rs119461975(C;C)
Significance Pathogenic
Disease Mucopolysaccharidosis
Variation info
Gene GNS
CLNDBN Mucopolysaccharidosis, MPS-III-D
Reversed 1
HGVS NC_000012.11:g.65122768G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000003068.3,