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: rs1331776405
rs1331776405
ADCY3
2 24827609 splice acceptor variant C/T snv
CUI: C4693522
Disease: BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19 		0.700 0
dbSNP: rs1553329804
rs1553329804
ADCY3 ; CENPO
2 24820052 frameshift variant G/- delins
CUI: C4693522
Disease: BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19 		0.700 0
dbSNP: rs1553333167
rs1553333167
ADCY3
2 24824537 splice acceptor variant C/T snv
CUI: C4693522
Disease: BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19 		0.700 0
dbSNP: rs750852737
rs750852737
ADCY3 ; CENPO
2 24820011 inframe deletion AAG/- delins 4.0E-06; 2.4E-05 1.4E-05
CUI: C4693522
Disease: BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19 		0.700 0
dbSNP: rs754914420
rs754914420
ADCY3
2 24839960 frameshift variant C/-;CC delins
CUI: C4693522
Disease: BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19 		0.700 0
dbSNP: rs6545814
rs6545814
ADCY3
2 24908447 intron variant A/G snv 0.53
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 2 2012 2014
dbSNP: rs6545814
rs6545814
ADCY3
2 24908447 intron variant A/G snv 0.53
CUI: C0578022
Disease: Finding of body mass index
Finding of body mass index 		0.700 1.000 2 2012 2014
dbSNP: rs6545814
rs6545814
ADCY3
2 24908447 intron variant A/G snv 0.53
CUI: C0005893
Disease: Body mass index procedure
Body mass index procedure 		0.700 1.000 2 2012 2014
dbSNP: rs11676272
rs11676272
ADCY3
1.000 0.040 2 24918669 missense variant A/G snv 0.47 0.57
CUI: C0005893
Disease: Body mass index procedure
Body mass index procedure 		0.700 1.000 1 2012 2012
dbSNP: rs11676272
rs11676272
ADCY3
1.000 0.040 2 24918669 missense variant A/G snv 0.47 0.57
CUI: C0578022
Disease: Finding of body mass index
Finding of body mass index 		0.700 1.000 1 2012 2012
dbSNP: rs6545800
rs6545800
ADCY3
2 24896016 intron variant C/T snv 0.53
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		0.800 1.000 1 2012 2012
dbSNP: rs7586879
rs7586879
ADCY3
2 24894108 intron variant C/T snv 0.47
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2013 2013
dbSNP: rs7586879
rs7586879
ADCY3
2 24894108 intron variant C/T snv 0.47
CUI: C0578022
Disease: Finding of body mass index
Finding of body mass index 		0.700 1.000 1 2013 2013
dbSNP: rs7586879
rs7586879
ADCY3
2 24894108 intron variant C/T snv 0.47
CUI: C0005893
Disease: Body mass index procedure
Body mass index procedure 		0.700 1.000 1 2013 2013
dbSNP: rs11676272
rs11676272
ADCY3
1.000 0.040 2 24918669 missense variant A/G snv 0.47 0.57
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 4 2015 2019
dbSNP: rs13407913
rs13407913
ADCY3
0.827 0.120 2 24874775 intron variant A/G snv 0.54
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.700 1.000 3 2015 2017
dbSNP: rs13407913
rs13407913
ADCY3
0.827 0.120 2 24874775 intron variant A/G snv 0.54
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		0.700 1.000 2 2015 2016
dbSNP: rs13407913
rs13407913
ADCY3
0.827 0.120 2 24874775 intron variant A/G snv 0.54
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		0.700 1.000 2 2015 2017
dbSNP: rs11676272
rs11676272
ADCY3
1.000 0.040 2 24918669 missense variant A/G snv 0.47 0.57
CUI: C0562350
Disease: Hip circumference
Hip circumference 		0.700 1.000 1 2015 2015
dbSNP: rs6737082
rs6737082
ADCY3
2 24915171 intron variant A/C snv 0.56
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2015 2015
dbSNP: rs10206196
rs10206196
ADCY3
2 24914454 intron variant T/C snv 0.55
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs13407913
rs13407913
ADCY3
0.827 0.120 2 24874775 intron variant A/G snv 0.54
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing 		0.700 1.000 1 2016 2016
dbSNP: rs13407913
rs13407913
ADCY3
0.827 0.120 2 24874775 intron variant A/G snv 0.54
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		0.700 1.000 1 2016 2016
dbSNP: rs13407913
rs13407913
ADCY3
0.827 0.120 2 24874775 intron variant A/G snv 0.54
CUI: C0033860
Disease: Psoriasis
Psoriasis 		0.700 1.000 1 2016 2016
dbSNP: rs35609705
rs35609705
ADCY3
2 24868853 intron variant AA/-;A;AAA;AAAA delins
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure) 		0.700 1.000 1 2016 2016