rs786204767

Orientation

plus

Stabilized

plus

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

Make rs786204767(C;T)

Make rs786204767(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

19

Position

49692361

Gene

CPT1C

is a	snp
is	mentioned by
dbSNP	rs786204767
dbSNP (classic)	rs786204767
ClinGen	rs786204767
ebi	rs786204767
HLI	rs786204767
Exac	rs786204767
Gnomad	rs786204767
Varsome	rs786204767
LitVar	rs786204767
Map	rs786204767
PheGenI	rs786204767
Biobank	rs786204767
1000 genomes	rs786204767
hgdp	rs786204767
ensembl	rs786204767
geneview	rs786204767
scholar	rs786204767
google	rs786204767
pharmgkb	rs786204767
gwascentral	rs786204767
openSNP	rs786204767
23andMe	rs786204767
SNPshot	rs786204767
SNPdbe	rs786204767
MSV3d	rs786204767
GWAS Ctlg	rs786204767

Max Magnitude

0

ClinVar
Risk	rs786204767(T;T)
Alt	rs786204767(T;T)
Reference	Rs786204767(C;C)
Significance	Pathogenic
Disease	Spastic paraplegia 73
Variation	info
Gene	CPT1C
CLNDBN	Spastic paraplegia 73, autosomal dominant
Reversed	0
HGVS	NC_000019.9:g.50195618C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000169633.5,