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rs724159970

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs724159970(G;T)
Make rs724159970(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome4
Position127921733
GeneMFSD8
is asnp
is mentioned by
dbSNPrs724159970
ebirs724159970
HLIrs724159970
Exacrs724159970
Varsomers724159970
Maprs724159970
PheGenIrs724159970
hapmaprs724159970
1000 genomesrs724159970
hgdprs724159970
ensemblrs724159970
gopubmedrs724159970
geneviewrs724159970
scholarrs724159970
googlers724159970
pharmgkbrs724159970
gwascentralrs724159970
openSNPrs724159970
23andMers724159970
23andMe allrs724159970
SNP Nexus

SNPshotrs724159970
SNPdbers724159970
MSV3drs724159970
GWAS Ctlgrs724159970
Max Magnitude0
ClinVar
Risk rs724159970(T;T)
Alt rs724159970(T;T)
Reference rs724159970(G;G)
Significance Pathogenic
Disease Ceroid lipofuscinosis neuronal 7 Macular dystrophy with central cone involvement
Variation info
Gene MFSD8
CLNDBN Ceroid lipofuscinosis neuronal 7 Macular dystrophy with central cone involvement
Reversed 1
HGVS NC_000004.11:g.128842888C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000149772.3, RCV000149773.3,