rs369486176

Orientation

plus

Stabilized

plus

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

Make rs369486176(C;T)

Make rs369486176(T;T)

Reference

GRCh38.p7 38.3/149

Chromosome

18

Position

62113129

Gene

PIGN

is a	snp
is	mentioned by
dbSNP	rs369486176
dbSNP (classic)	rs369486176
ClinGen	rs369486176
ebi	rs369486176
HLI	rs369486176
Exac	rs369486176
Gnomad	rs369486176
Varsome	rs369486176
LitVar	rs369486176
Map	rs369486176
PheGenI	rs369486176
Biobank	rs369486176
1000 genomes	rs369486176
hgdp	rs369486176
ensembl	rs369486176
geneview	rs369486176
scholar	rs369486176
google	rs369486176
pharmgkb	rs369486176
gwascentral	rs369486176
openSNP	rs369486176
23andMe	rs369486176
SNPshot	rs369486176
SNPdbe	rs369486176
MSV3d	rs369486176
GWAS Ctlg	rs369486176

Max Magnitude

0

ClinVar
Risk	rs369486176(T;T)
Alt	rs369486176(T;T)
Reference	Rs369486176(C;C)
Significance	Pathogenic
Disease	Multiple congenital anomalies-hypotonia-seizures syndrome 1
Variation	info
Gene	PIGN
CLNDBN	Multiple congenital anomalies-hypotonia-seizures syndrome 1
Reversed	0
HGVS	NC_000018.9:g.59780362C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000250290.1,