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rs864309513

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs864309513(A;G)
Make rs864309513(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome6
Position31861452
GeneNEU1
is asnp
is mentioned by
dbSNPrs864309513
ebirs864309513
HLIrs864309513
Exacrs864309513
Varsomers864309513
Maprs864309513
PheGenIrs864309513
hapmaprs864309513
1000 genomesrs864309513
hgdprs864309513
ensemblrs864309513
gopubmedrs864309513
geneviewrs864309513
scholarrs864309513
googlers864309513
pharmgkbrs864309513
gwascentralrs864309513
openSNPrs864309513
23andMers864309513
23andMe allrs864309513
SNP Nexus

SNPshotrs864309513
SNPdbers864309513
MSV3drs864309513
GWAS Ctlgrs864309513
Max Magnitude0
ClinVar
Risk rs864309513(G;G)
Alt rs864309513(G;G)
Reference rs864309513(A;A)
Significance Pathogenic
Disease Non-immune hydrops fetalis Sialidosis
Variation info
Gene NEU1
CLNDBN Non-immune hydrops fetalis Sialidosis, type II
Reversed 1
HGVS NC_000006.11:g.31829229T>C
CLNSRC
CLNACC RCV000202579.1,