Source: ALL

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: rs73637412
rs73637412
GPR101
0.882 0.160 X 137030751 missense variant C/G;T snv 3.5E-03; 1.5E-03
CUI: C0001206
Disease: Acromegaly
Acromegaly 		0.050 1.000 5 2014 2019
dbSNP: rs1267969615
rs1267969615
ACE
0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06
CUI: C0001206
Disease: Acromegaly
Acromegaly 		0.020 1.000 2 2011 2017
dbSNP: rs2066853
rs2066853
AHR
0.653 0.600 7 17339486 missense variant G/A snv 0.15 0.22
CUI: C0001206
Disease: Acromegaly
Acromegaly 		0.020 1.000 2 2014 2019
dbSNP: rs699
rs699
AGT
0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58
CUI: C0001206
Disease: Acromegaly
Acromegaly 		0.020 1.000 2 2011 2017
dbSNP: rs104894195
rs104894195
AIP
0.882 0.120 11 67490910 stop gained C/G;T snv 4.0E-06; 1.2E-05
CUI: C0001206
Disease: Acromegaly
Acromegaly 		0.010 1.000 1 2014 2014
dbSNP: rs1052133
rs1052133
OGG1 ; CAMK1
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C0001206
Disease: Acromegaly
Acromegaly 		0.010 < 0.001 1 2013 2013
dbSNP: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0001206
Disease: Acromegaly
Acromegaly 		0.010 1.000 1 2016 2016
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0001206
Disease: Acromegaly
Acromegaly 		0.010 1.000 1 2014 2014
dbSNP: rs121908356
rs121908356
AIP ; MIR6752
0.925 0.120 11 67490804 stop gained C/A snv
CUI: C0001206
Disease: Acromegaly
Acromegaly 		0.010 1.000 1 2007 2007
dbSNP: rs121913377
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv
CUI: C0001206
Disease: Acromegaly
Acromegaly 		0.010 1.000 1 2016 2016
dbSNP: rs1290398674
rs1290398674
GNAS
0.851 0.240 20 58854075 missense variant G/A;T snv
CUI: C0001206
Disease: Acromegaly
Acromegaly 		0.010 1.000 1 2014 2014
dbSNP: rs142833529
rs142833529
CDKN1B ; GPR19
1.000 0.120 12 12718195 missense variant T/A;C;G snv 1.2E-05; 5.3E-04
CUI: C0001206
Disease: Acromegaly
Acromegaly 		0.010 1.000 1 2012 2012
dbSNP: rs169068
rs169068
SSTR5 ; SSTR5-AS1
0.742 0.280 16 1079872 missense variant C/T snv 0.54 0.50
CUI: C0001206
Disease: Acromegaly
Acromegaly 		0.010 1.000 1 2011 2011
dbSNP: rs2276020
rs2276020
AIP ; MIR6752
1.000 0.120 11 67490085 missense variant C/G;T snv 3.4E-02
CUI: C0001206
Disease: Acromegaly
Acromegaly 		0.010 1.000 1 2008 2008
dbSNP: rs267606541
rs267606541
AIP
0.827 0.160 11 67487147 stop gained C/T snv
CUI: C0001206
Disease: Acromegaly
Acromegaly 		0.010 1.000 1 2012 2012
dbSNP: rs2854744
rs2854744
IGFBP3
0.695 0.520 7 45921476 intron variant G/T snv 0.48
CUI: C0001206
Disease: Acromegaly
Acromegaly 		0.010 1.000 1 2018 2018
dbSNP: rs34037914
rs34037914
SSTR5 ; SSTR5-AS1
1.000 0.120 16 1079501 synonymous variant C/T snv 5.9E-02 4.8E-02
CUI: C0001206
Disease: Acromegaly
Acromegaly 		0.010 1.000 1 2011 2011
dbSNP: rs5498
rs5498
ICAM1 ; ICAM4
0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37
CUI: C0001206
Disease: Acromegaly
Acromegaly 		0.010 < 0.001 1 2015 2015
dbSNP: rs642249
rs642249
SSTR5 ; SSTR5-AS1
1.000 0.120 16 1079912 synonymous variant A/G snv 0.96 0.96
CUI: C0001206
Disease: Acromegaly
Acromegaly 		0.010 1.000 1 2011 2011
dbSNP: rs760330563
rs760330563
DCTN6
1.000 0.120 8 30180515 missense variant C/T snv 4.0E-06
CUI: C0001206
Disease: Acromegaly
Acromegaly 		0.010 1.000 1 2012 2012
dbSNP: rs763751076
rs763751076
AGXT
0.925 0.160 2 240875132 missense variant C/T snv 1.2E-05 6.3E-05
CUI: C0001206
Disease: Acromegaly
Acromegaly 		0.010 1.000 1 2017 2017
dbSNP: rs765502229
rs765502229
IFI27
1.000 0.120 14 94116511 missense variant T/C snv 1.6E-05 7.0E-06
CUI: C0001206
Disease: Acromegaly
Acromegaly 		0.010 1.000 1 2012 2012
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0001206
Disease: Acromegaly
Acromegaly 		0.010 1.000 1 2012 2012
dbSNP: rs775888932
rs775888932
ADRA2B
1.000 0.120 2 96115223 missense variant C/A;T snv
CUI: C0001206
Disease: Acromegaly
Acromegaly 		0.010 1.000 1 2014 2014
dbSNP: rs9930506
rs9930506
FTO
0.776 0.360 16 53796553 intron variant A/G snv 0.36
CUI: C0001206
Disease: Acromegaly
Acromegaly 		0.010 1.000 1 2018 2018