rs387907040

Orientation

minus

Stabilized

minus

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

Make rs387907040(C;T)

Make rs387907040(T;T)

Reference

GRCh38 38.1/141

Chromosome

16

Position

74727290

Gene

FA2H

is a	snp
is	mentioned by
dbSNP	rs387907040
dbSNP (classic)	rs387907040
ClinGen	rs387907040
ebi	rs387907040
HLI	rs387907040
Exac	rs387907040
Gnomad	rs387907040
Varsome	rs387907040
LitVar	rs387907040
Map	rs387907040
PheGenI	rs387907040
Biobank	rs387907040
1000 genomes	rs387907040
hgdp	rs387907040
ensembl	rs387907040
geneview	rs387907040
scholar	rs387907040
google	rs387907040
pharmgkb	rs387907040
gwascentral	rs387907040
openSNP	rs387907040
23andMe	rs387907040
SNPshot	rs387907040
SNPdbe	rs387907040
MSV3d	rs387907040
GWAS Ctlg	rs387907040

Max Magnitude

0

ClinVar
Risk	rs387907040(T;T)
Alt	rs387907040(T;T)
Reference	Rs387907040(C;C)
Significance	Pathogenic
Disease	Spastic paraplegia 35 not provided
Variation	info
Gene	FA2H
CLNDBN	Spastic paraplegia 35 not provided
Reversed	1
HGVS	NC_000016.9:g.74761188G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000023857.4, RCV000483483.1,