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rs118203977

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs118203977(G;G)
Make rs118203977(G;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position127930787
GeneMFSD8
is asnp
is mentioned by
dbSNPrs118203977
ebirs118203977
HLIrs118203977
Exacrs118203977
Varsomers118203977
Maprs118203977
PheGenIrs118203977
hapmaprs118203977
1000 genomesrs118203977
hgdprs118203977
ensemblrs118203977
gopubmedrs118203977
geneviewrs118203977
scholarrs118203977
googlers118203977
pharmgkbrs118203977
gwascentralrs118203977
openSNPrs118203977
23andMers118203977
23andMe allrs118203977
SNP Nexus

SNPshotrs118203977
SNPdbers118203977
MSV3drs118203977
GWAS Ctlgrs118203977
Max Magnitude0
OMIM611124
Desc
Variant0003
Relatedalso
ClinVar
Risk rs118203977(C,G;C,G)
Alt rs118203977(C,G;C,G)
Reference rs118203977(T;T)
Significance Pathogenic
Disease Ceroid lipofuscinosis neuronal 7
Variation info
Gene MFSD8
CLNDBN Ceroid lipofuscinosis neuronal 7
Reversed 1
HGVS NC_000004.11:g.128851942A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000001058.3,