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rs387906838

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387906838(A;A)
Make rs387906838(A;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position100104125
GeneAP4M1
is asnp
is mentioned by
dbSNPrs387906838
ebirs387906838
HLIrs387906838
Exacrs387906838
Varsomers387906838
Maprs387906838
PheGenIrs387906838
hapmaprs387906838
1000 genomesrs387906838
hgdprs387906838
ensemblrs387906838
gopubmedrs387906838
geneviewrs387906838
scholarrs387906838
googlers387906838
pharmgkbrs387906838
gwascentralrs387906838
openSNPrs387906838
23andMers387906838
23andMe allrs387906838
SNP Nexus

SNPshotrs387906838
SNPdbers387906838
MSV3drs387906838
GWAS Ctlgrs387906838
Max Magnitude0
ClinVar
Risk rs387906838(A;A)
Alt rs387906838(A;A)
Reference rs387906838(G;G)
Significance Pathogenic
Disease Spastic paraplegia 50
Variation info
Gene AP4M1
CLNDBN Spastic paraplegia 50, autosomal recessive
Reversed 0
HGVS NC_000007.13:g.99701748G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000023191.4,