rs886039216

Orientation

minus

Stabilized

minus

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

Make rs886039216(A;T)

Make rs886039216(T;T)

Reference

GRCh38.p7 38.3/149

Chromosome

18

Position

62147021

Gene

PIGN

is a	snp
is	mentioned by
dbSNP	rs886039216
dbSNP (classic)	rs886039216
ClinGen	rs886039216
ebi	rs886039216
HLI	rs886039216
Exac	rs886039216
Gnomad	rs886039216
Varsome	rs886039216
LitVar	rs886039216
Map	rs886039216
PheGenI	rs886039216
Biobank	rs886039216
1000 genomes	rs886039216
hgdp	rs886039216
ensembl	rs886039216
geneview	rs886039216
scholar	rs886039216
google	rs886039216
pharmgkb	rs886039216
gwascentral	rs886039216
openSNP	rs886039216
23andMe	rs886039216
SNPshot	rs886039216
SNPdbe	rs886039216
MSV3d	rs886039216
GWAS Ctlg	rs886039216

Max Magnitude

0

ClinVar
Risk	rs886039216(T;T)
Alt	rs886039216(T;T)
Reference	Rs886039216(A;A)
Significance	Pathogenic
Disease	Multiple congenital anomalies-hypotonia-seizures syndrome 1
Variation	info
Gene	PIGN
CLNDBN	Multiple congenital anomalies-hypotonia-seizures syndrome 1
Reversed	1
HGVS	NC_000018.9:g.59814254T>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000253807.1,