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: rs121918111
rs121918111
POMC
1.000 0.120 2 25161572 stop gained C/A;G;T snv 6.2E-06
CUI: C1857854
Disease: Proopiomelanocortin Deficiency
Proopiomelanocortin Deficiency 		0.700 0
dbSNP: rs121918112
rs121918112
POMC
1.000 0.120 2 25161734 stop gained T/A snv 7.0E-06
CUI: C1857854
Disease: Proopiomelanocortin Deficiency
Proopiomelanocortin Deficiency 		0.700 0
dbSNP: rs1553400259
rs1553400259
POMC
1.000 0.120 2 25161754 splice acceptor variant T/G snv
CUI: C1857854
Disease: Proopiomelanocortin Deficiency
Proopiomelanocortin Deficiency 		0.700 0
dbSNP: rs28932472
rs28932472
POMC
0.925 0.080 2 25161179 missense variant G/C snv 2.7E-03 2.8E-03
CUI: C4016341
Disease: OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO
OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs753856820
rs753856820
POMC
1.000 0.120 2 25164783 5 prime UTR variant G/T snv 2.8E-05 1.4E-05
CUI: C1857854
Disease: Proopiomelanocortin Deficiency
Proopiomelanocortin Deficiency 		0.700 0
dbSNP: rs796065034
rs796065034
POMC
1.000 0.120 2 25161452 frameshift variant G/- delins
CUI: C1857854
Disease: Proopiomelanocortin Deficiency
Proopiomelanocortin Deficiency 		0.700 0
dbSNP: rs796065035
rs796065035
POMC
1.000 0.120 2 25161480 frameshift variant -/CC delins
CUI: C1857854
Disease: Proopiomelanocortin Deficiency
Proopiomelanocortin Deficiency 		0.700 0