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rs118203976

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs118203976(A;A)
Make rs118203976(A;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position127921588
GeneMFSD8
is asnp
is mentioned by
dbSNPrs118203976
ebirs118203976
HLIrs118203976
Exacrs118203976
Varsomers118203976
Maprs118203976
PheGenIrs118203976
hapmaprs118203976
1000 genomesrs118203976
hgdprs118203976
ensemblrs118203976
gopubmedrs118203976
geneviewrs118203976
scholarrs118203976
googlers118203976
pharmgkbrs118203976
gwascentralrs118203976
openSNPrs118203976
23andMers118203976
23andMe allrs118203976
SNP Nexus

SNPshotrs118203976
SNPdbers118203976
MSV3drs118203976
GWAS Ctlgrs118203976
Max Magnitude0
OMIM611124
Desc
Variant0002
Relatedalso
ClinVar
Risk rs118203976(A;A)
Alt rs118203976(A;A)
Reference rs118203976(G;G)
Significance Pathogenic
Disease Ceroid lipofuscinosis neuronal 7
Variation info
Gene MFSD8
CLNDBN Ceroid lipofuscinosis neuronal 7
Reversed 1
HGVS NC_000004.11:g.128842743C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001057.3,