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rs1057519600

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057519600(A;A)
Make rs1057519600(A;C)
ReferenceGRCh38.p7 38.3/150
Chromosome4
Position41268048
GeneUCHL1
is asnp
is mentioned by
dbSNPrs1057519600
dbSNP (old)rs1057519600
ClinGenrs1057519600
ebirs1057519600
HLIrs1057519600
Exacrs1057519600
Gnomadrs1057519600
Varsomers1057519600
Maprs1057519600
PheGenIrs1057519600
Biobankrs1057519600
1000 genomesrs1057519600
hgdprs1057519600
ensemblrs1057519600
gopubmedrs1057519600
geneviewrs1057519600
scholarrs1057519600
googlers1057519600
pharmgkbrs1057519600
gwascentralrs1057519600
openSNPrs1057519600
23andMers1057519600
23andMe allrs1057519600
SNPshotrs1057519600
SNPdbers1057519600
MSV3drs1057519600
GWAS Ctlgrs1057519600
Max Magnitude0
ClinVar
Risk rs1057519600(A;A)
Alt rs1057519600(A;A)
Reference Rs1057519600(C;C)
Significance Pathogenic
Disease Spastic paraplegia 79
Variation info
Gene UCHL1
CLNDBN Spastic paraplegia 79, autosomal recessive
Reversed 0
HGVS NC_000004.11:g.41270065C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000417145.1,