rs397514539

Orientation

plus

Stabilized

plus

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

Make rs397514539(C;T)

Make rs397514539(T;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

123256924

Gene

C12orf65

is a	snp
is	mentioned by
dbSNP	rs397514539
dbSNP (classic)	rs397514539
ClinGen	rs397514539
ebi	rs397514539
HLI	rs397514539
Exac	rs397514539
Gnomad	rs397514539
Varsome	rs397514539
LitVar	rs397514539
Map	rs397514539
PheGenI	rs397514539
Biobank	rs397514539
1000 genomes	rs397514539
hgdp	rs397514539
ensembl	rs397514539
geneview	rs397514539
scholar	rs397514539
google	rs397514539
pharmgkb	rs397514539
gwascentral	rs397514539
openSNP	rs397514539
23andMe	rs397514539
SNPshot	rs397514539
SNPdbe	rs397514539
MSV3d	rs397514539
GWAS Ctlg	rs397514539

Max Magnitude

0

ClinVar
Risk	rs397514539(T;T)
Alt	rs397514539(T;T)
Reference	Rs397514539(C;C)
Significance	Pathogenic
Disease	Spastic paraplegia 55
Variation	info
Gene	C12orf65
CLNDBN	Spastic paraplegia 55, autosomal recessive
Reversed	0
HGVS	NC_000012.11:g.123741471C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000032782.3,