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rs146262009

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs146262009(C;T)
Make rs146262009(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome7
Position100106278
GeneAP4M1
is asnp
is mentioned by
dbSNPrs146262009
ebirs146262009
HLIrs146262009
Exacrs146262009
Varsomers146262009
Maprs146262009
PheGenIrs146262009
hapmaprs146262009
1000 genomesrs146262009
hgdprs146262009
ensemblrs146262009
gopubmedrs146262009
geneviewrs146262009
scholarrs146262009
googlers146262009
pharmgkbrs146262009
gwascentralrs146262009
openSNPrs146262009
23andMers146262009
23andMe allrs146262009
SNP Nexus

SNPshotrs146262009
SNPdbers146262009
MSV3drs146262009
GWAS Ctlgrs146262009
Max Magnitude0
ClinVar
Risk rs146262009(T;T)
Alt rs146262009(T;T)
Reference rs146262009(C;C)
Significance Pathogenic
Disease Spastic paraplegia 50
Variation info
Gene AP4M1
CLNDBN Spastic paraplegia 50, autosomal recessive
Reversed 0
HGVS NC_000007.13:g.99703901C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000191922.2,