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rs397515634

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs397515634(A;C)
Make rs397515634(C;C)
ReferenceGRCh38 38.1/141
Chromosome4
Position41256996
GeneUCHL1, UCHL1-AS1
is asnp
is mentioned by
dbSNPrs397515634
dbSNP (old)rs397515634
ClinGenrs397515634
ebirs397515634
HLIrs397515634
Exacrs397515634
Gnomadrs397515634
Varsomers397515634
Maprs397515634
PheGenIrs397515634
Biobankrs397515634
1000 genomesrs397515634
hgdprs397515634
ensemblrs397515634
gopubmedrs397515634
geneviewrs397515634
scholarrs397515634
googlers397515634
pharmgkbrs397515634
gwascentralrs397515634
openSNPrs397515634
23andMers397515634
23andMe allrs397515634
SNP Nexus

SNPshotrs397515634
SNPdbers397515634
MSV3drs397515634
GWAS Ctlgrs397515634
Max Magnitude0
ClinVar
Risk rs397515634(C;C)
Alt rs397515634(C;C)
Reference Rs397515634(A;A)
Significance Pathogenic
Disease Spastic paraplegia 79
Variation info
Gene UCHL1-AS1 UCHL1
CLNDBN Spastic paraplegia 79, autosomal recessive
Reversed 0
HGVS NC_000004.11:g.41259013A>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000074332.19,