rs398122418

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	9	Prader-Willi-like syndrome; Schaaf-Yang syndrome

Make rs398122418(T;T)

Reference

GRCh38 38.1/141

Chromosome

15

Position

23644619

Gene

MAGEL2

is a	snp
is	mentioned by
dbSNP	rs398122418
dbSNP (classic)	rs398122418
ClinGen	rs398122418
ebi	rs398122418
HLI	rs398122418
Exac	rs398122418
Gnomad	rs398122418
Varsome	rs398122418
LitVar	rs398122418
Map	rs398122418
PheGenI	rs398122418
Biobank	rs398122418
1000 genomes	rs398122418
hgdp	rs398122418
ensembl	rs398122418
geneview	rs398122418
scholar	rs398122418
google	rs398122418
pharmgkb	rs398122418
gwascentral	rs398122418
openSNP	rs398122418
23andMe	rs398122418
SNPshot	rs398122418
SNPdbe	rs398122418
MSV3d	rs398122418
GWAS Ctlg	rs398122418

Max Magnitude

9

aka c.3124C>T, p.Gln1042Ter, Q1024X or Q1024*

ClinVar
Risk	rs398122418(T;T)
Alt	rs398122418(T;T)
Reference	Rs398122418(C;C)
Significance	Pathogenic
Disease	Schaaf-yang syndrome not provided
Variation	info
Gene	MAGEL2
CLNDBN	Schaaf-yang syndrome not provided
Reversed	1
HGVS	NC_000015.9:g.23889766G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000074487.6, RCV000285006.1,