Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894023
rs104894023
LEP
CUI: C3554224
Disease: LEPTIN DEFICIENCY OR DYSFUNCTION
LEPTIN DEFICIENCY OR DYSFUNCTION
0.800 GeneticVariation UNIPROT Biologically inactive leptin and early-onset extreme obesity. 25551525

2015

dbSNP: rs104894023
rs104894023
LEP
CUI: C3554224
Disease: LEPTIN DEFICIENCY OR DYSFUNCTION
LEPTIN DEFICIENCY OR DYSFUNCTION
0.800 GeneticVariation UNIPROT A leptin missense mutation associated with hypogonadism and morbid obesity. 9500540

1998

dbSNP: rs104894023
rs104894023
LEP
CUI: C3554224
Disease: LEPTIN DEFICIENCY OR DYSFUNCTION
LEPTIN DEFICIENCY OR DYSFUNCTION
T 0.800 CausalMutation CLINVAR

dbSNP: rs1554394014
rs1554394014
LEP
CUI: C3554224
Disease: LEPTIN DEFICIENCY OR DYSFUNCTION
LEPTIN DEFICIENCY OR DYSFUNCTION
C 0.700 GeneticVariation CLINVAR

dbSNP: rs724159998
rs724159998
LEP
CUI: C4016279
Disease: LEPTIN DYSFUNCTION
LEPTIN DYSFUNCTION
T 0.700 CausalMutation CLINVAR

dbSNP: rs724159998
rs724159998
LEP
CUI: C3554224
Disease: LEPTIN DEFICIENCY OR DYSFUNCTION
LEPTIN DEFICIENCY OR DYSFUNCTION
0.700 GeneticVariation UNIPROT