rs886039218

Orientation

minus

Stabilized

minus

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

Make rs886039218(A;T)

Make rs886039218(T;T)

Reference

GRCh38.p7 38.3/149

Chromosome

18

Position

62147082

Gene

PIGN

is a	snp
is	mentioned by
dbSNP	rs886039218
dbSNP (classic)	rs886039218
ClinGen	rs886039218
ebi	rs886039218
HLI	rs886039218
Exac	rs886039218
Gnomad	rs886039218
Varsome	rs886039218
LitVar	rs886039218
Map	rs886039218
PheGenI	rs886039218
Biobank	rs886039218
1000 genomes	rs886039218
hgdp	rs886039218
ensembl	rs886039218
geneview	rs886039218
scholar	rs886039218
google	rs886039218
pharmgkb	rs886039218
gwascentral	rs886039218
openSNP	rs886039218
23andMe	rs886039218
SNPshot	rs886039218
SNPdbe	rs886039218
MSV3d	rs886039218
GWAS Ctlg	rs886039218

Max Magnitude

0

ClinVar
Risk	rs886039218(T;T)
Alt	rs886039218(T;T)
Reference	Rs886039218(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.59814315T>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000246557.1,