LEP, leptin, 3952

N. diseases: 931; N. variants: 15
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs104894023
rs104894023
1.000 7 128254572 missense variant C/T snv
CUI: C3554224
Disease: LEPTIN DEFICIENCY OR DYSFUNCTION
LEPTIN DEFICIENCY OR DYSFUNCTION
0.800 1.000 2 1998 2015
dbSNP: rs1554394014
rs1554394014
1.000 7 128254720 missense variant T/C snv
CUI: C3554224
Disease: LEPTIN DEFICIENCY OR DYSFUNCTION
LEPTIN DEFICIENCY OR DYSFUNCTION
0.700 0
dbSNP: rs724159998
rs724159998
0.882 0.080 7 128254557 missense variant G/A;T snv 4.0E-06
CUI: C3554224
Disease: LEPTIN DEFICIENCY OR DYSFUNCTION
LEPTIN DEFICIENCY OR DYSFUNCTION
0.700 0