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rs150418024

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs150418024(C;G)
Make rs150418024(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome4
Position127921956
GeneMFSD8
is asnp
is mentioned by
dbSNPrs150418024
ebirs150418024
HLIrs150418024
Exacrs150418024
Varsomers150418024
Maprs150418024
PheGenIrs150418024
hapmaprs150418024
1000 genomesrs150418024
hgdprs150418024
ensemblrs150418024
gopubmedrs150418024
geneviewrs150418024
scholarrs150418024
googlers150418024
pharmgkbrs150418024
gwascentralrs150418024
openSNPrs150418024
23andMers150418024
23andMe allrs150418024
SNP Nexus

SNPshotrs150418024
SNPdbers150418024
MSV3drs150418024
GWAS Ctlgrs150418024
Max Magnitude0
ClinVar
Risk rs150418024(G;G)
Alt rs150418024(G;G)
Reference rs150418024(C;C)
Significance Pathogenic
Disease Macular dystrophy with central cone involvement not specified
Variation info
Gene MFSD8
CLNDBN Macular dystrophy with central cone involvement not specified
Reversed 0
HGVS NC_000004.11:g.128843111C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000149771.3, RCV000188179.2,