rs387907329

Orientation

minus

Stabilized

minus

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

Make rs387907329(C;T)

Make rs387907329(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

49075573

Gene	PRAF2, WDR45

is a	snp
is	mentioned by
dbSNP	rs387907329
dbSNP (classic)	rs387907329
ClinGen	rs387907329
ebi	rs387907329
HLI	rs387907329
Exac	rs387907329
Gnomad	rs387907329
Varsome	rs387907329
LitVar	rs387907329
Map	rs387907329
PheGenI	rs387907329
Biobank	rs387907329
1000 genomes	rs387907329
hgdp	rs387907329
ensembl	rs387907329
geneview	rs387907329
scholar	rs387907329
google	rs387907329
pharmgkb	rs387907329
gwascentral	rs387907329
openSNP	rs387907329
23andMe	rs387907329
SNPshot	rs387907329
SNPdbe	rs387907329
MSV3d	rs387907329
GWAS Ctlg	rs387907329

Max Magnitude

0

ClinVar
Risk	rs387907329(A;A) rs387907329(T;T)
Alt	rs387907329(A;A) rs387907329(T;T)
Reference	Rs387907329(C;C)
Significance	Pathogenic
Disease	Neurodegeneration with brain iron accumulation 5 not provided Absent speech Delayed gross motor development Delayed speech and language development Global developmental delay Hypoplasia of the corpus callosum Seizures
Variation	info
Gene	WDR45 PRAF2
CLNDBN	Neurodegeneration with brain iron accumulation 5 not provided Absent speech Delayed gross motor development Delayed speech and language development Global developmental delay Hypoplasia of the corpus callosum Seizures
Reversed	1
HGVS	NC_000023.10:g.48933232G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000034829.6, RCV000254714.2, RCV000415276.1,