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rs587779388

From SNPedia

Orientationminus
Geno Mag Summary
(CA;CA) 0 common in clinvar
Make rs587779388(-;-)
Make rs587779388(-;CA)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position113898755
GeneAP4B1, AP4B1-AS1
is asnp
is mentioned by
dbSNPrs587779388
ebirs587779388
HLIrs587779388
Exacrs587779388
Varsomers587779388
Maprs587779388
PheGenIrs587779388
hapmaprs587779388
1000 genomesrs587779388
hgdprs587779388
ensemblrs587779388
gopubmedrs587779388
geneviewrs587779388
scholarrs587779388
googlers587779388
pharmgkbrs587779388
gwascentralrs587779388
openSNPrs587779388
23andMers587779388
23andMe allrs587779388
SNP Nexus

SNPshotrs587779388
SNPdbers587779388
MSV3drs587779388
GWAS Ctlgrs587779388
Max Magnitude0
ClinVar
Risk rs587779388(;)
Alt rs587779388(;)
Reference rs587779388(CA;CA)
Significance Pathogenic
Disease Spastic paraplegia 47
Variation info
Gene AP4B1 AP4B1-AS1
CLNDBN Spastic paraplegia 47, autosomal recessive
Reversed 1
HGVS NC_000001.10:g.114441377_114441378delTG
CLNSRC OMIM Allelic Variant
CLNACC RCV000144484.2,