rs886039217

Orientation

minus

Stabilized

minus

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

Make rs886039217(C;T)

Make rs886039217(T;T)

Reference

GRCh38.p7 38.3/149

Chromosome

18

Position

62102796

Gene

PIGN

is a	snp
is	mentioned by
dbSNP	rs886039217
dbSNP (classic)	rs886039217
ClinGen	rs886039217
ebi	rs886039217
HLI	rs886039217
Exac	rs886039217
Gnomad	rs886039217
Varsome	rs886039217
LitVar	rs886039217
Map	rs886039217
PheGenI	rs886039217
Biobank	rs886039217
1000 genomes	rs886039217
hgdp	rs886039217
ensembl	rs886039217
geneview	rs886039217
scholar	rs886039217
google	rs886039217
pharmgkb	rs886039217
gwascentral	rs886039217
openSNP	rs886039217
23andMe	rs886039217
SNPshot	rs886039217
SNPdbe	rs886039217
MSV3d	rs886039217
GWAS Ctlg	rs886039217

Max Magnitude

0

ClinVar
Risk	rs886039217(T;T)
Alt	rs886039217(T;T)
Reference	Rs886039217(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	1
HGVS	NC_000018.9:g.59770029G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000249988.1,