rs587777398

Orientation

plus

Stabilized

plus

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

Make rs587777398(A;A)

Make rs587777398(A;C)

Reference

GRCh38 38.1/142

Chromosome

X

Position

15331701

Gene

PIGA

is a	snp
is	mentioned by
dbSNP	rs587777398
dbSNP (classic)	rs587777398
ClinGen	rs587777398
ebi	rs587777398
HLI	rs587777398
Exac	rs587777398
Gnomad	rs587777398
Varsome	rs587777398
LitVar	rs587777398
Map	rs587777398
PheGenI	rs587777398
Biobank	rs587777398
1000 genomes	rs587777398
hgdp	rs587777398
ensembl	rs587777398
geneview	rs587777398
scholar	rs587777398
google	rs587777398
pharmgkb	rs587777398
gwascentral	rs587777398
openSNP	rs587777398
23andMe	rs587777398
SNPshot	rs587777398
SNPdbe	rs587777398
MSV3d	rs587777398
GWAS Ctlg	rs587777398

Max Magnitude

0

ClinVar
Risk	rs587777398(A;A) rs587777398(T;T)
Alt	rs587777398(A;A) rs587777398(T;T)
Reference	Rs587777398(C;C)
Significance	Pathogenic
Disease	Multiple congenital anomalies-hypotonia-seizures syndrome 2
Variation	info
Gene	PIGA
CLNDBN	Multiple congenital anomalies-hypotonia-seizures syndrome 2
Reversed	0
HGVS	NC_000023.10:g.15349823C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000119285.2,