Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1060499934
rs1060499934
MAGEL2
CUI: C3809877
Disease: Prader-Willi-like syndrome
Prader-Willi-like syndrome 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1250752332
rs1250752332
MAGEL2
CUI: C3809877
Disease: Prader-Willi-like syndrome
Prader-Willi-like syndrome 		GGT 0.700 GeneticVariation CLINVAR

dbSNP: rs1555374227
rs1555374227
MAGEL2
CUI: C3809877
Disease: Prader-Willi-like syndrome
Prader-Willi-like syndrome 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1555374290
rs1555374290
MAGEL2
CUI: C3809877
Disease: Prader-Willi-like syndrome
Prader-Willi-like syndrome 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1566784441
rs1566784441
MAGEL2
CUI: C3809877
Disease: Prader-Willi-like syndrome
Prader-Willi-like syndrome 		T 0.700 CausalMutation CLINVAR

dbSNP: rs398122415
rs398122415
MAGEL2
CUI: C3809877
Disease: Prader-Willi-like syndrome
Prader-Willi-like syndrome 		T 0.700 CausalMutation CLINVAR

dbSNP: rs398122416
rs398122416
MAGEL2
CUI: C3809877
Disease: Prader-Willi-like syndrome
Prader-Willi-like syndrome 		T 0.700 CausalMutation CLINVAR Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism. 24076603

2013
dbSNP: rs398122417
rs398122417
MAGEL2
CUI: C3809877
Disease: Prader-Willi-like syndrome
Prader-Willi-like syndrome 		G 0.700 CausalMutation CLINVAR Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism. 24076603

2013
dbSNP: rs398122418
rs398122418
MAGEL2
CUI: C3809877
Disease: Prader-Willi-like syndrome
Prader-Willi-like syndrome 		A 0.700 CausalMutation CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545

2016
dbSNP: rs770374710
rs770374710
MAGEL2
CUI: C3809877
Disease: Prader-Willi-like syndrome
Prader-Willi-like syndrome 		TG 0.700 CausalMutation CLINVAR

dbSNP: rs770374710
rs770374710
MAGEL2
CUI: C3809877
Disease: Prader-Willi-like syndrome
Prader-Willi-like syndrome 		T 0.700 CausalMutation CLINVAR

dbSNP: rs797044883
rs797044883
MAGEL2
CUI: C3809877
Disease: Prader-Willi-like syndrome
Prader-Willi-like syndrome 		A 0.700 CausalMutation CLINVAR

dbSNP: rs866419580
rs866419580
MAGEL2
CUI: C3809877
Disease: Prader-Willi-like syndrome
Prader-Willi-like syndrome 		A 0.700 CausalMutation CLINVAR

dbSNP: rs869312694
rs869312694
MAGEL2
CUI: C3809877
Disease: Prader-Willi-like syndrome
Prader-Willi-like syndrome 		A 0.700 CausalMutation CLINVAR