rs201119959

Orientation

plus

Stabilized

plus

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

Make rs201119959(C;C)

Make rs201119959(C;T)

Reference

GRCh38 38.1/142

Chromosome

X

Position

15331315

Gene

PIGA

is a	snp
is	mentioned by
dbSNP	rs201119959
dbSNP (classic)	rs201119959
ClinGen	rs201119959
ebi	rs201119959
HLI	rs201119959
Exac	rs201119959
Gnomad	rs201119959
Varsome	rs201119959
LitVar	rs201119959
Map	rs201119959
PheGenI	rs201119959
Biobank	rs201119959
1000 genomes	rs201119959
hgdp	rs201119959
ensembl	rs201119959
geneview	rs201119959
scholar	rs201119959
google	rs201119959
pharmgkb	rs201119959
gwascentral	rs201119959
openSNP	rs201119959
23andMe	rs201119959
SNPshot	rs201119959
SNPdbe	rs201119959
MSV3d	rs201119959
GWAS Ctlg	rs201119959

Max Magnitude

0

ClinVar
Risk	rs201119959(A;A) rs201119959(C;C)
Alt	rs201119959(A;A) rs201119959(C;C)
Reference	Rs201119959(T;T)
Significance	Pathogenic
Disease	Multiple congenital anomalies-hypotonia-seizures syndrome 2 not specified
Variation	info
Gene	PIGA
CLNDBN	Multiple congenital anomalies-hypotonia-seizures syndrome 2 not specified
Reversed	0
HGVS	NC_000023.10:g.15349437T>A; NC_000023.10:g.15349437T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000119286.2, RCV000484035.1,