Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs370479598
rs370479598
MC4R
1 1.000 0.080 18 60372169 missense variant C/T snv 2.0E-05 1.4E-05 0.700 0
dbSNP: rs372794914
rs372794914
MC4R
2 0.925 0.080 18 60372319 missense variant T/C snv 6.0E-05 2.8E-05 0.700 0
dbSNP: rs376439188
rs376439188
MC4R
1 1.000 0.080 18 60372189 missense variant A/G snv 4.0E-06 1.4E-05 0.700 0
dbSNP: rs52804924
rs52804924
MC4R
2 0.925 0.080 18 60371454 missense variant G/A;T snv 8.0E-06 0.700 0
dbSNP: rs549625604
rs549625604
BBS10
13 0.752 0.280 12 76347713 frameshift variant -/A delins 6.0E-04 0.700 0
dbSNP: rs752134549
rs752134549
RSRC2
6 0.827 0.200 12 122517404 missense variant C/T snv 1.6E-05 7.0E-06 0.700 0
dbSNP: rs756232889
rs756232889
MC4R
1 1.000 0.080 18 60371512 missense variant A/G snv 4.0E-06 1.4E-05 0.700 0
dbSNP: rs764314276
rs764314276
TCOF1
3 0.925 0.200 5 150375721 missense variant G/A snv 4.0E-06 0.700 0
dbSNP: rs770293321
rs770293321
MC4R
1 1.000 0.080 18 60372286 stop gained GT/- delins 1.2E-05 0.700 0
dbSNP: rs772393451
rs772393451
MC4R
1 1.000 0.080 18 60371601 missense variant A/T snv 1.6E-05 7.0E-06 0.700 0
dbSNP: rs80359473
rs80359473
BRCA2
12 0.807 0.400 13 32339288 frameshift variant GAAA/- delins 0.700 0
dbSNP: rs867593888
rs867593888
MYH9
11 0.882 0.200 22 36292059 missense variant T/C snv 0.700 0
dbSNP: rs886040857
rs886040857
EIF2S3
7 0.882 0.240 X 24076757 frameshift variant TCAA/- delins 0.700 0
dbSNP: rs942758928
rs942758928
MC4R
2 1.000 0.080 18 60371854 missense variant C/T snv 8.0E-06 1.4E-05 0.700 0
dbSNP: rs4994
rs4994
ADRB3
65 0.578 0.640 8 37966280 missense variant A/G snv 0.11 9.2E-02 0.800 0.843 51 1995 2019
dbSNP: rs104894009
rs104894009
GCK ; LOC105375258
3 0.882 0.120 7 44146587 missense variant C/G snv 0.010 1.000 1 1995 1995
dbSNP: rs1801282
rs1801282
PPARG
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.100 0.804 46 1997 2018
dbSNP: rs1805192
rs1805192
PPARG
121 0.510 0.840 3 12379739 missense variant C/G snv 0.100 0.837 43 1997 2018
dbSNP: rs1042714
rs1042714
ADRB2
54 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 0.100 0.882 17 1997 2018
dbSNP: rs1232898090
rs1232898090
PPARA
40 0.637 0.600 22 46198429 missense variant G/C;T snv 4.0E-06; 4.0E-06 0.100 0.769 13 1997 2018
dbSNP: rs660339
rs660339
UCP2
24 0.695 0.320 11 73978059 missense variant G/A snv 0.41 0.43 0.080 0.625 8 1997 2014
dbSNP: rs45539933
rs45539933
UCP1
5 0.882 0.280 4 140567914 missense variant C/T snv 8.7E-02 7.7E-02 0.020 1.000 2 1997 2003
dbSNP: rs6318
rs6318
HTR2C ; LOC105373313
42 0.623 0.520 X 114731326 missense variant C/G;T snv 0.010 < 0.001 1 1997 1997
dbSNP: rs199646874
rs199646874
EGR1
1 1.000 0.080 5 138467255 missense variant C/A;G snv 0.010 1.000 1 1998 1998
dbSNP: rs200027152
rs200027152
UCP2
2 0.925 0.120 11 73975612 missense variant C/T snv 8.0E-05 4.9E-05 0.010 < 0.001 1 1998 1998