rs145303331

Orientation

plus

Stabilized

plus

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

Make rs145303331(C;C)

Make rs145303331(C;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

16316686

Gene

PIGL

is a	snp
is	mentioned by
dbSNP	rs145303331
dbSNP (classic)	rs145303331
ClinGen	rs145303331
ebi	rs145303331
HLI	rs145303331
Exac	rs145303331
Gnomad	rs145303331
Varsome	rs145303331
LitVar	rs145303331
Map	rs145303331
PheGenI	rs145303331
Biobank	rs145303331
1000 genomes	rs145303331
hgdp	rs145303331
ensembl	rs145303331
geneview	rs145303331
scholar	rs145303331
google	rs145303331
pharmgkb	rs145303331
gwascentral	rs145303331
openSNP	rs145303331
23andMe	rs145303331
SNPshot	rs145303331
SNPdbe	rs145303331
MSV3d	rs145303331
GWAS Ctlg	rs145303331

GMAF

0.0009183

Max Magnitude

0

ClinVar
Risk	rs145303331(C;C)
Alt	rs145303331(C;C)
Reference	Rs145303331(T;T)
Significance	Pathogenic
Disease	Zunich neuroectodermal syndrome Coloboma not provided Bilateral cleft lip and palate Camptodactyly of finger Hypertelorism Low-set ears Postaxial hand polydactyly Premature birth Scrotal hypoplasia Wide intermamillary distance
Variation	info
Gene	PIGL
CLNDBN	Zunich neuroectodermal syndrome Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome not provided Bilateral cleft lip and palate Camptodactyly of finger Hypertelorism Low-set ears Postaxial hand polydactyly Premature birth Scrotal hypoplasia Wide intermamillary distance
Reversed	0
HGVS	NC_000017.10:g.16220000T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000023501.7, RCV000279778.1, RCV000301294.2, RCV000415465.1,