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rs587783179

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587783179(-;-)
Make rs587783179(-;G)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position113902663
GeneAP4B1
is asnp
is mentioned by
dbSNPrs587783179
ebirs587783179
HLIrs587783179
Exacrs587783179
Varsomers587783179
Maprs587783179
PheGenIrs587783179
hapmaprs587783179
1000 genomesrs587783179
hgdprs587783179
ensemblrs587783179
gopubmedrs587783179
geneviewrs587783179
scholarrs587783179
googlers587783179
pharmgkbrs587783179
gwascentralrs587783179
openSNPrs587783179
23andMers587783179
23andMe allrs587783179
SNP Nexus

SNPshotrs587783179
SNPdbers587783179
MSV3drs587783179
GWAS Ctlgrs587783179
Max Magnitude0
ClinVar
Risk rs587783179(;)
Alt rs587783179(;)
Reference rs587783179(G;G)
Significance Pathogenic
Disease Spastic paraplegia 47
Variation info
Gene DCLRE1B AP4B1
CLNDBN Spastic paraplegia 47, autosomal recessive
Reversed 1
HGVS NC_000001.10:g.114445285delC
CLNSRC
CLNACC RCV000145019.1,