rs397515634

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	0	common in clinvar

Make rs397515634(A;C)

Make rs397515634(C;C)

Reference

GRCh38 38.1/141

Chromosome

4

Position

41256996

Gene	UCHL1, UCHL1-AS1

is a	snp
is	mentioned by
dbSNP	rs397515634
dbSNP (classic)	rs397515634
ClinGen	rs397515634
ebi	rs397515634
HLI	rs397515634
Exac	rs397515634
Gnomad	rs397515634
Varsome	rs397515634
LitVar	rs397515634
Map	rs397515634
PheGenI	rs397515634
Biobank	rs397515634
1000 genomes	rs397515634
hgdp	rs397515634
ensembl	rs397515634
geneview	rs397515634
scholar	rs397515634
google	rs397515634
pharmgkb	rs397515634
gwascentral	rs397515634
openSNP	rs397515634
23andMe	rs397515634
SNPshot	rs397515634
SNPdbe	rs397515634
MSV3d	rs397515634
GWAS Ctlg	rs397515634

Max Magnitude

0

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,