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rs118203978

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs118203978(A;G)
Make rs118203978(G;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position127943829
GeneMFSD8
is asnp
is mentioned by
dbSNPrs118203978
ebirs118203978
HLIrs118203978
Exacrs118203978
Varsomers118203978
Maprs118203978
PheGenIrs118203978
hapmaprs118203978
1000 genomesrs118203978
hgdprs118203978
ensemblrs118203978
gopubmedrs118203978
geneviewrs118203978
scholarrs118203978
googlers118203978
pharmgkbrs118203978
gwascentralrs118203978
openSNPrs118203978
23andMers118203978
23andMe allrs118203978
SNP Nexus

SNPshotrs118203978
SNPdbers118203978
MSV3drs118203978
GWAS Ctlgrs118203978
Max Magnitude0
OMIM611124
Desc
Variant0004
Relatedalso
ClinVar
Risk rs118203978(C,G;C,G)
Alt rs118203978(C,G;C,G)
Reference rs118203978(A;A)
Significance Pathogenic
Disease Ceroid lipofuscinosis neuronal 7 not provided
Variation info
Gene MFSD8
CLNDBN Ceroid lipofuscinosis neuronal 7 not provided
Reversed 1
HGVS NC_000004.11:g.128864984T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000001059.3, RCV000188166.2,