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rs751298168

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs751298168(A;T)
Make rs751298168(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome19
Position7533651
GeneMCOLN1, PNPLA6
is asnp
is mentioned by
dbSNPrs751298168
dbSNP (old)rs751298168
ClinGenrs751298168
ebirs751298168
HLIrs751298168
Exacrs751298168
Gnomadrs751298168
Varsomers751298168
Maprs751298168
PheGenIrs751298168
Biobankrs751298168
1000 genomesrs751298168
hgdprs751298168
ensemblrs751298168
gopubmedrs751298168
geneviewrs751298168
scholarrs751298168
googlers751298168
pharmgkbrs751298168
gwascentralrs751298168
openSNPrs751298168
23andMers751298168
23andMe allrs751298168
SNP Nexus

SNPshotrs751298168
SNPdbers751298168
MSV3drs751298168
GWAS Ctlgrs751298168
Max Magnitude0
ClinVar
Risk rs751298168(C;C) rs751298168(T;T)
Alt rs751298168(C;C) rs751298168(T;T)
Reference Rs751298168(A;A)
Significance Pathogenic
Disease Ganglioside sialidase deficiency
Variation info
Gene PNPLA6 MCOLN1
CLNDBN Ganglioside sialidase deficiency
Reversed 0
HGVS NC_000019.9:g.7598537A>T
CLNSRC
CLNACC RCV000192303.1,