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rs797045244

From SNPedia

Orientationminus
Make rs797045244(C;C)
Make rs797045244(C;TG)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position113902664
GeneAP4B1
is asnp
is mentioned by
dbSNPrs797045244
ebirs797045244
HLIrs797045244
Exacrs797045244
Varsomers797045244
Maprs797045244
PheGenIrs797045244
hapmaprs797045244
1000 genomesrs797045244
hgdprs797045244
ensemblrs797045244
gopubmedrs797045244
geneviewrs797045244
scholarrs797045244
googlers797045244
pharmgkbrs797045244
gwascentralrs797045244
openSNPrs797045244
23andMers797045244
23andMe allrs797045244
SNP Nexus

SNPshotrs797045244
SNPdbers797045244
MSV3drs797045244
GWAS Ctlgrs797045244
Max Magnitude
ClinVar
Risk rs797045244(C;C)
Alt rs797045244(C;C)
Reference rs797045244(TG;TG)
Significance Pathogenic
Disease Spastic paraplegia 47
Variation info
Gene DCLRE1B AP4B1
CLNDBN Spastic paraplegia 47, autosomal recessive
Reversed 1
HGVS NC_000001.10:g.114445286_114445287delCAinsG
CLNSRC
CLNACC RCV000195189.1,