rs397514475

Orientation

minus

Stabilized

minus

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

Make rs397514475(A;A)

Make rs397514475(A;G)

Reference

GRCh38 38.1/141

Chromosome

18

Position

62095902

Gene

PIGN

is a	snp
is	mentioned by
dbSNP	rs397514475
dbSNP (classic)	rs397514475
ClinGen	rs397514475
ebi	rs397514475
HLI	rs397514475
Exac	rs397514475
Gnomad	rs397514475
Varsome	rs397514475
LitVar	rs397514475
Map	rs397514475
PheGenI	rs397514475
Biobank	rs397514475
1000 genomes	rs397514475
hgdp	rs397514475
ensembl	rs397514475
geneview	rs397514475
scholar	rs397514475
google	rs397514475
pharmgkb	rs397514475
gwascentral	rs397514475
openSNP	rs397514475
23andMe	rs397514475
SNPshot	rs397514475
SNPdbe	rs397514475
MSV3d	rs397514475
GWAS Ctlg	rs397514475

Max Magnitude

0

ClinVar
Risk	rs397514475(A;A)
Alt	rs397514475(A;A)
Reference	Rs397514475(G;G)
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.59763135C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000023506.4,