rs121918217

Orientation

minus

Stabilized

minus

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

Make rs121918217(G;T)

Make rs121918217(T;T)

Reference

GRCh38 38.1/141

Chromosome

16

Position

74774653

Gene

FA2H

is a	snp
is	mentioned by
dbSNP	rs121918217
dbSNP (classic)	rs121918217
ClinGen	rs121918217
ebi	rs121918217
HLI	rs121918217
Exac	rs121918217
Gnomad	rs121918217
Varsome	rs121918217
LitVar	rs121918217
Map	rs121918217
PheGenI	rs121918217
Biobank	rs121918217
1000 genomes	rs121918217
hgdp	rs121918217
ensembl	rs121918217
geneview	rs121918217
scholar	rs121918217
google	rs121918217
pharmgkb	rs121918217
gwascentral	rs121918217
openSNP	rs121918217
23andMe	rs121918217
SNPshot	rs121918217
SNPdbe	rs121918217
MSV3d	rs121918217
GWAS Ctlg	rs121918217

Max Magnitude

0

OMIM	611026
Desc
Variant	0002
Related	also

ClinVar
Risk	rs121918217(T;T)
Alt	rs121918217(T;T)
Reference	Rs121918217(G;G)
Significance	Pathogenic
Disease	Spastic paraplegia 35
Variation	info
Gene	FA2H
CLNDBN	Spastic paraplegia 35
Reversed	1
HGVS	NC_000016.9:g.74808551C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001099.3,