Source: CLINVAR

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: rs13447331
rs13447331
MC4R
0.925 0.080 18 60371970 missense variant G/A snv 1.7E-04 7.7E-05
CUI: C0028754
Disease: Obesity
Obesity 		0.810 1.000 0 2015 2015
dbSNP: rs187152753
rs187152753
MC4R
1.000 0.080 18 60371593 missense variant C/T snv 5.6E-05 1.3E-04
CUI: C0028754
Disease: Obesity
Obesity 		0.810 1.000 0 2007 2007
dbSNP: rs121913564
rs121913564
MC4R
0.882 0.080 18 60371403 missense variant A/C snv 2.0E-05 1.4E-05
CUI: C0028754
Disease: Obesity
Obesity 		0.800 1.000 5 2003 2015
dbSNP: rs121913562
rs121913562
MC4R
1.000 0.080 18 60371538 missense variant C/A;T snv 4.0E-06
CUI: C0028754
Disease: Obesity
Obesity 		0.800 0
dbSNP: rs121913563
rs121913563
MC4R
1.000 0.080 18 60371827 missense variant C/T snv 5.4E-04 3.0E-04
CUI: C0028754
Disease: Obesity
Obesity 		0.800 0
dbSNP: rs766665118
rs766665118
MC4R
1.000 0.080 18 60371901 missense variant G/A snv 7.2E-05 2.8E-05
CUI: C0028754
Disease: Obesity
Obesity 		0.710 1.000 0 2016 2016
dbSNP: rs79783591
rs79783591
MC4R
1.000 0.080 18 60371544 missense variant A/T snv 1.0E-03 1.1E-04
CUI: C0028754
Disease: Obesity
Obesity 		0.710 1.000 0 2020 2020
dbSNP: rs13447324
rs13447324
MC4R
1.000 0.080 18 60372245 stop gained G/T snv 6.8E-05 1.3E-04
CUI: C0028754
Disease: Obesity
Obesity 		0.700 1.000 11 1999 2011
dbSNP: rs747681609
rs747681609
MC4R
1.000 0.080 18 60371856 missense variant C/T snv 2.4E-05 1.4E-05
CUI: C0028754
Disease: Obesity
Obesity 		0.700 1.000 8 2000 2014
dbSNP: rs369841551
rs369841551
MC4R
0.882 0.120 18 60371884 stop gained G/A;T snv 4.0E-06
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes 		0.700 1.000 4 1999 2017
dbSNP: rs369841551
rs369841551
MC4R
0.882 0.120 18 60371884 stop gained G/A;T snv 4.0E-06
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia 		0.700 1.000 4 1999 2017
dbSNP: rs193922685
rs193922685
MC4R
1.000 0.080 18 60371812 missense variant A/G snv 4.0E-06
CUI: C0028754
Disease: Obesity
Obesity 		0.700 0
dbSNP: rs193922687
rs193922687
MC4R
1.000 0.080 18 60371514 frameshift variant CA/-;CACA delins
CUI: C0028754
Disease: Obesity
Obesity 		0.700 0
dbSNP: rs369841551
rs369841551
MC4R
0.882 0.120 18 60371884 stop gained G/A;T snv 4.0E-06
CUI: C0028754
Disease: Obesity
Obesity 		0.700 0
dbSNP: rs370479598
rs370479598
MC4R
1.000 0.080 18 60372169 missense variant C/T snv 2.0E-05 1.4E-05
CUI: C0028754
Disease: Obesity
Obesity 		0.700 0
dbSNP: rs376439188
rs376439188
MC4R
1.000 0.080 18 60372189 missense variant A/G snv 4.0E-06 1.4E-05
CUI: C0028754
Disease: Obesity
Obesity 		0.700 0
dbSNP: rs52804924
rs52804924
MC4R
0.925 0.080 18 60371454 missense variant G/A;T snv 8.0E-06
CUI: C0028754
Disease: Obesity
Obesity 		0.700 0
dbSNP: rs756232889
rs756232889
MC4R
1.000 0.080 18 60371512 missense variant A/G snv 4.0E-06 1.4E-05
CUI: C0028754
Disease: Obesity
Obesity 		0.700 0
dbSNP: rs770293321
rs770293321
MC4R
1.000 0.080 18 60372286 stop gained GT/- delins 1.2E-05
CUI: C0028754
Disease: Obesity
Obesity 		0.700 0
dbSNP: rs772393451
rs772393451
MC4R
1.000 0.080 18 60371601 missense variant A/T snv 1.6E-05 7.0E-06
CUI: C0028754
Disease: Obesity
Obesity 		0.700 0
dbSNP: rs942758928
rs942758928
MC4R
1.000 0.080 18 60371854 missense variant C/T snv 8.0E-06 1.4E-05
CUI: C0028754
Disease: Obesity
Obesity 		0.700 0