Have questions? Visit https://www.reddit.com/r/SNPedia

rs587778809

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587778809(A;A)
Make rs587778809(A;T)
ReferenceGRCh38.p2 38.2/144
Chromosome4
Position127938781
GeneMFSD8
is asnp
is mentioned by
dbSNPrs587778809
dbSNP (old)rs587778809
ClinGenrs587778809
ebirs587778809
HLIrs587778809
Exacrs587778809
Varsomers587778809
Maprs587778809
PheGenIrs587778809
Biobankrs587778809
1000 genomesrs587778809
hgdprs587778809
ensemblrs587778809
gopubmedrs587778809
geneviewrs587778809
scholarrs587778809
googlers587778809
pharmgkbrs587778809
gwascentralrs587778809
openSNPrs587778809
23andMers587778809
23andMe allrs587778809
SNP Nexus

SNPshotrs587778809
SNPdbers587778809
MSV3drs587778809
GWAS Ctlgrs587778809
Max Magnitude0
ClinVar
Risk rs587778809(A;A)
Alt rs587778809(A;A)
Reference Rs587778809(T;T)
Significance Pathogenic
Disease Ceroid lipofuscinosis neuronal 7 not provided Neuronal Ceroid-Lipofuscinosis
Variation info
Gene MFSD8
CLNDBN Ceroid lipofuscinosis neuronal 7 not provided Neuronal Ceroid-Lipofuscinosis, Recessive
Reversed 1
HGVS NC_000004.11:g.128859936A>T
CLNSRC
CLNACC RCV000056142.1, RCV000188171.1, RCV000269722.1,