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: 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: rs372794914
rs372794914
MC4R
0.925 0.080 18 60372319 missense variant T/C snv 6.0E-05 2.8E-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: rs549625604
rs549625604
BBS10
0.752 0.280 12 76347713 frameshift variant -/A delins 6.0E-04
CUI: C0028754
Disease: Obesity
Obesity 		0.700 0
dbSNP: rs752134549
rs752134549
RSRC2
0.827 0.200 12 122517404 missense variant C/T snv 1.6E-05 7.0E-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: rs764314276
rs764314276
TCOF1
0.925 0.200 5 150375721 missense variant G/A snv 4.0E-06
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: rs80359473
rs80359473
BRCA2
0.807 0.400 13 32339288 frameshift variant GAAA/- delins
CUI: C0028754
Disease: Obesity
Obesity 		0.700 0
dbSNP: rs867593888
rs867593888
MYH9
0.882 0.200 22 36292059 missense variant T/C snv
CUI: C0028754
Disease: Obesity
Obesity 		0.700 0
dbSNP: rs886040857
rs886040857
EIF2S3
0.882 0.240 X 24076757 frameshift variant TCAA/- delins
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
dbSNP: rs4994
rs4994
ADRB3
0.578 0.640 8 37966280 missense variant A/G snv 0.11 9.2E-02
CUI: C0028754
Disease: Obesity
Obesity 		0.800 0.843 0 1995 2019
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: rs121964976
rs121964976
GLDC
0.882 0.160 9 6589230 missense variant C/G;T snv 8.7E-05; 2.3E-02
CUI: C0028754
Disease: Obesity
Obesity 		0.700 1.000 1 2000 2000
dbSNP: rs121913566
rs121913566
MC4R
0.925 0.080 18 60372165 missense variant T/C snv 4.0E-06
CUI: C0028754
Disease: Obesity
Obesity 		0.710 1.000 0 2000 2000
dbSNP: rs34911341
rs34911341
GHRL ; GHRLOS
0.882 0.200 3 10289835 missense variant C/T snv 7.0E-03 7.3E-03
CUI: C0028754
Disease: Obesity
Obesity 		0.710 1.000 0 2002 2002
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: rs796052908
rs796052908
POLG ; MIR6766
0.882 0.160 15 89327329 frameshift variant AG/- delins 4.0E-06 1.4E-05
CUI: C0028754
Disease: Obesity
Obesity 		0.700 1.000 2 2003 2008
dbSNP: rs1057517991
rs1057517991
MC4R
0.925 0.120 18 60371539 missense variant A/G snv 4.0E-06
CUI: C0028754
Disease: Obesity
Obesity 		0.720 1.000 0 2003 2008
dbSNP: rs121913559
rs121913559
MC4R
1.000 0.080 18 60372045 missense variant A/C;G snv 4.0E-06
CUI: C0028754
Disease: Obesity
Obesity 		0.710 1.000 0 2005 2005
dbSNP: rs121909065
rs121909065
CARTPT
1.000 0.080 5 71719903 missense variant G/C snv 1.3E-04 6.3E-05
CUI: C0028754
Disease: Obesity
Obesity 		0.720 1.000 0 2006 2006