Source: CURATED

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs104894023
rs104894023
LEP
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
LEP
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
LEP
0.882 0.080 7 128254557 missense variant G/A;T snv 4.0E-06
CUI: C4016279
Disease: LEPTIN DYSFUNCTION
LEPTIN DYSFUNCTION 		0.700 0
dbSNP: rs724159998
rs724159998
LEP
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