rs749334082

Orientation

plus

Stabilized

plus

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

Make rs749334082(A;T)

Make rs749334082(T;T)

Reference

GRCh38.p7 38.3/149

Chromosome

18

Position

62088786

Gene

PIGN

is a	snp
is	mentioned by
dbSNP	rs749334082
dbSNP (classic)	rs749334082
ClinGen	rs749334082
ebi	rs749334082
HLI	rs749334082
Exac	rs749334082
Gnomad	rs749334082
Varsome	rs749334082
LitVar	rs749334082
Map	rs749334082
PheGenI	rs749334082
Biobank	rs749334082
1000 genomes	rs749334082
hgdp	rs749334082
ensembl	rs749334082
geneview	rs749334082
scholar	rs749334082
google	rs749334082
pharmgkb	rs749334082
gwascentral	rs749334082
openSNP	rs749334082
23andMe	rs749334082
SNPshot	rs749334082
SNPdbe	rs749334082
MSV3d	rs749334082
GWAS Ctlg	rs749334082

Max Magnitude

0

ClinVar
Risk	rs749334082(T;T)
Alt	rs749334082(T;T)
Reference	Rs749334082(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	0
HGVS	NC_000018.9:g.59756019A>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000245624.1,