rs387907039

Orientation

minus

Stabilized

minus

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

Make rs387907039(C;T)

Make rs387907039(T;T)

Reference

GRCh38 38.1/141

Chromosome

16

Position

74719071

Gene

FA2H

is a	snp
is	mentioned by
dbSNP	rs387907039
dbSNP (classic)	rs387907039
ClinGen	rs387907039
ebi	rs387907039
HLI	rs387907039
Exac	rs387907039
Gnomad	rs387907039
Varsome	rs387907039
LitVar	rs387907039
Map	rs387907039
PheGenI	rs387907039
Biobank	rs387907039
1000 genomes	rs387907039
hgdp	rs387907039
ensembl	rs387907039
geneview	rs387907039
scholar	rs387907039
google	rs387907039
pharmgkb	rs387907039
gwascentral	rs387907039
openSNP	rs387907039
23andMe	rs387907039
SNPshot	rs387907039
SNPdbe	rs387907039
MSV3d	rs387907039
GWAS Ctlg	rs387907039

Max Magnitude

0

ClinVar
Risk	rs387907039(T;T)
Alt	rs387907039(T;T)
Reference	Rs387907039(C;C)
Significance	Pathogenic
Disease	Spastic paraplegia 35
Variation	info
Gene	FA2H
CLNDBN	Spastic paraplegia 35
Reversed	1
HGVS	NC_000016.9:g.74752969G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000023855.4,