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rs786204767

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs786204767(C;T)
Make rs786204767(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome19
Position49692361
GeneCPT1C
is asnp
is mentioned by
dbSNPrs786204767
ebirs786204767
HLIrs786204767
Exacrs786204767
Varsomers786204767
Maprs786204767
PheGenIrs786204767
hapmaprs786204767
1000 genomesrs786204767
hgdprs786204767
ensemblrs786204767
gopubmedrs786204767
geneviewrs786204767
scholarrs786204767
googlers786204767
pharmgkbrs786204767
gwascentralrs786204767
openSNPrs786204767
23andMers786204767
23andMe allrs786204767
SNP Nexus

SNPshotrs786204767
SNPdbers786204767
MSV3drs786204767
GWAS Ctlgrs786204767
Max Magnitude0
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
CLNACC RCV000169633.5,