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rs727502800

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs727502800(C;C)
Make rs727502800(C;G)
ReferenceGRCh38.p2 38.2/144
Chromosome4
Position127921860
GeneMFSD8
is asnp
is mentioned by
dbSNPrs727502800
ebirs727502800
HLIrs727502800
Exacrs727502800
Varsomers727502800
Maprs727502800
PheGenIrs727502800
hapmaprs727502800
1000 genomesrs727502800
hgdprs727502800
ensemblrs727502800
gopubmedrs727502800
geneviewrs727502800
scholarrs727502800
googlers727502800
pharmgkbrs727502800
gwascentralrs727502800
openSNPrs727502800
23andMers727502800
23andMe allrs727502800
SNP Nexus

SNPshotrs727502800
SNPdbers727502800
MSV3drs727502800
GWAS Ctlgrs727502800
Max Magnitude0
ClinVar
Risk rs727502800(C;C)
Alt rs727502800(C;C)
Reference rs727502800(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.128843015C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000149774.3, RCV000149775.3,