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rs140948465

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs140948465(A;A)
Make rs140948465(A;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position127930800
GeneMFSD8
is asnp
is mentioned by
dbSNPrs140948465
ebirs140948465
HLIrs140948465
Exacrs140948465
Varsomers140948465
Maprs140948465
PheGenIrs140948465
hapmaprs140948465
1000 genomesrs140948465
hgdprs140948465
ensemblrs140948465
gopubmedrs140948465
geneviewrs140948465
scholarrs140948465
googlers140948465
pharmgkbrs140948465
gwascentralrs140948465
openSNPrs140948465
23andMers140948465
23andMe allrs140948465
SNP Nexus

SNPshotrs140948465
SNPdbers140948465
MSV3drs140948465
GWAS Ctlgrs140948465
Max Magnitude0
ClinVar
Risk rs140948465(A,T;A,T)
Alt rs140948465(A,T;A,T)
Reference rs140948465(G;G)
Significance Pathogenic
Disease Ceroid lipofuscinosis neuronal 7
Variation info
Gene MFSD8
CLNDBN Ceroid lipofuscinosis neuronal 7
Reversed 0
HGVS NC_000004.11:g.128851955G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001061.2,