rs139004722

Orientation

plus

Stabilized

plus

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

Make rs139004722(C;G)

Make rs139004722(G;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

16317900

Gene

PIGL

is a	snp
is	mentioned by
dbSNP	rs139004722
dbSNP (classic)	rs139004722
ClinGen	rs139004722
ebi	rs139004722
HLI	rs139004722
Exac	rs139004722
Gnomad	rs139004722
Varsome	rs139004722
LitVar	rs139004722
Map	rs139004722
PheGenI	rs139004722
Biobank	rs139004722
1000 genomes	rs139004722
hgdp	rs139004722
ensembl	rs139004722
geneview	rs139004722
scholar	rs139004722
google	rs139004722
pharmgkb	rs139004722
gwascentral	rs139004722
openSNP	rs139004722
23andMe	rs139004722
23andMe all	rs139004722
SNPshot	rs139004722
SNPdbe	rs139004722
MSV3d	rs139004722
GWAS Ctlg	rs139004722

Max Magnitude

0

ClinVar
Risk	rs139004722(G;G) rs139004722(T;T)
Alt	rs139004722(G;G) rs139004722(T;T)
Reference	Rs139004722(C;C)
Significance	Pathogenic
Disease	Zunich neuroectodermal syndrome
Variation	info
Gene	PIGL
CLNDBN	Zunich neuroectodermal syndrome
Reversed	0
HGVS	NC_000017.10:g.16221214C>G; NC_000017.10:g.16221214C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000147272.1, RCV000023503.4,