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rs118203975

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs118203975(A;A)
Make rs118203975(A;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position127930752
GeneMFSD8
is asnp
is mentioned by
dbSNPrs118203975
ebirs118203975
HLIrs118203975
Exacrs118203975
Varsomers118203975
Maprs118203975
PheGenIrs118203975
hapmaprs118203975
1000 genomesrs118203975
hgdprs118203975
ensemblrs118203975
gopubmedrs118203975
geneviewrs118203975
scholarrs118203975
googlers118203975
pharmgkbrs118203975
gwascentralrs118203975
openSNPrs118203975
23andMers118203975
23andMe allrs118203975
SNP Nexus

SNPshotrs118203975
SNPdbers118203975
MSV3drs118203975
GWAS Ctlgrs118203975
Max Magnitude0
OMIM611124
Desc
Variant0001
Relatedalso
ClinVar
Risk rs118203975(A;A)
Alt rs118203975(A;A)
Reference rs118203975(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.128851907C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001056.3,