rs387907330

Orientation

minus

Stabilized

minus

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

Make rs387907330(C;C)

Make rs387907330(C;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

49075866

Gene	PRAF2, WDR45

is a	snp
is	mentioned by
dbSNP	rs387907330
dbSNP (classic)	rs387907330
ClinGen	rs387907330
ebi	rs387907330
HLI	rs387907330
Exac	rs387907330
Gnomad	rs387907330
Varsome	rs387907330
LitVar	rs387907330
Map	rs387907330
PheGenI	rs387907330
Biobank	rs387907330
1000 genomes	rs387907330
hgdp	rs387907330
ensembl	rs387907330
geneview	rs387907330
scholar	rs387907330
google	rs387907330
pharmgkb	rs387907330
gwascentral	rs387907330
openSNP	rs387907330
23andMe	rs387907330
SNPshot	rs387907330
SNPdbe	rs387907330
MSV3d	rs387907330
GWAS Ctlg	rs387907330

Max Magnitude

0

ClinVar
Risk	rs387907330(C;C)
Alt	rs387907330(C;C)
Reference	Rs387907330(G;G)
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.48933525C>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000034830.12,