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rs876661295

From SNPedia

Orientationplus
Geno Mag Summary
(AAGT;AAGT) 0 common in clinvar
Make rs876661295(-;-)
Make rs876661295(-;AAGT)
ReferenceGRCh38.p2 38.2/147
Chromosome14
Position31066337
GeneAP4S1
is asnp
is mentioned by
dbSNPrs876661295
ebirs876661295
HLIrs876661295
Exacrs876661295
Varsomers876661295
Maprs876661295
PheGenIrs876661295
hapmaprs876661295
1000 genomesrs876661295
hgdprs876661295
ensemblrs876661295
gopubmedrs876661295
geneviewrs876661295
scholarrs876661295
googlers876661295
pharmgkbrs876661295
gwascentralrs876661295
openSNPrs876661295
23andMers876661295
23andMe allrs876661295
SNP Nexus

SNPshotrs876661295
SNPdbers876661295
MSV3drs876661295
GWAS Ctlgrs876661295
Max Magnitude0
ClinVar
Risk rs876661295(;)
Alt rs876661295(;)
Reference rs876661295(AAGT;AAGT)
Significance Pathogenic
Disease Spastic paraplegia 52
Variation info
Gene AP4S1
CLNDBN Spastic paraplegia 52, autosomal recessive
Reversed 0
HGVS NC_000014.8:g.31535543_31535546delAAGT
CLNSRC OMIM Allelic Variant
CLNACC RCV000223669.1,