rs387907332

Orientation

minus

Stabilized

minus

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

Make rs387907332(C;T)

Make rs387907332(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

49075636

Gene	PRAF2, WDR45

is a	snp
is	mentioned by
dbSNP	rs387907332
dbSNP (classic)	rs387907332
ClinGen	rs387907332
ebi	rs387907332
HLI	rs387907332
Exac	rs387907332
Gnomad	rs387907332
Varsome	rs387907332
LitVar	rs387907332
Map	rs387907332
PheGenI	rs387907332
Biobank	rs387907332
1000 genomes	rs387907332
hgdp	rs387907332
ensembl	rs387907332
geneview	rs387907332
scholar	rs387907332
google	rs387907332
pharmgkb	rs387907332
gwascentral	rs387907332
openSNP	rs387907332
23andMe	rs387907332
SNPshot	rs387907332
SNPdbe	rs387907332
MSV3d	rs387907332
GWAS Ctlg	rs387907332

Max Magnitude

0

ClinVar
Risk	rs387907332(T;T)
Alt	rs387907332(T;T)
Reference	Rs387907332(C;C)
Significance	Pathogenic
Disease	Neurodegeneration with brain iron accumulation 5
Variation	info
Gene	WDR45 PRAF2
CLNDBN	Neurodegeneration with brain iron accumulation 5
Reversed	1
HGVS	NC_000023.10:g.48933295G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000034832.4,