rs387906726

Orientation

minus

Stabilized

minus

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

Make rs387906726(C;T)

Make rs387906726(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

15321727

Gene

PIGA

is a	snp
is	mentioned by
dbSNP	rs387906726
dbSNP (classic)	rs387906726
ClinGen	rs387906726
ebi	rs387906726
HLI	rs387906726
Exac	rs387906726
Gnomad	rs387906726
Varsome	rs387906726
LitVar	rs387906726
Map	rs387906726
PheGenI	rs387906726
Biobank	rs387906726
1000 genomes	rs387906726
hgdp	rs387906726
ensembl	rs387906726
geneview	rs387906726
scholar	rs387906726
google	rs387906726
pharmgkb	rs387906726
gwascentral	rs387906726
openSNP	rs387906726
23andMe	rs387906726
SNPshot	rs387906726
SNPdbe	rs387906726
MSV3d	rs387906726
GWAS Ctlg	rs387906726

Max Magnitude

0

ClinVar
Risk	rs387906726(T;T)
Alt	rs387906726(T;T)
Reference	Rs387906726(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	1
HGVS	NC_000023.10:g.15339849G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000022881.5,