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: rs7313075
rs7313075
HELLPAR
12 102236901 non coding transcript exon variant C/A;G snv
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 2 2015 2019
dbSNP: rs1520223
rs1520223
HELLPAR ; LINC02456
12 102332560 non coding transcript exon variant T/A;C snv
CUI: C0489786
Disease: Height
Height 		0.700 1.000 1 2010 2010
dbSNP: rs1520223
rs1520223
HELLPAR ; LINC02456
12 102332560 non coding transcript exon variant T/A;C snv
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2010 2010
dbSNP: rs1533688
rs1533688
HELLPAR ; LINC02456
12 102378967 non coding transcript exon variant C/T snv 0.24
CUI: C0005612
Disease: Birth Weight
Birth Weight 		0.700 1.000 1 2019 2019
dbSNP: rs17032384
rs17032384
HELLPAR ; LINC02456
0.925 0.040 12 102283136 non coding transcript exon variant T/G snv 3.9E-02
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		0.700 1.000 1 2018 2018
dbSNP: rs17032384
rs17032384
HELLPAR ; LINC02456
0.925 0.040 12 102283136 non coding transcript exon variant T/G snv 3.9E-02
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2018 2018
dbSNP: rs6214
rs6214
IGF1 ; HELLPAR ; LINC02456
0.672 0.400 12 102399791 3 prime UTR variant C/T snv 0.45
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs74900775
rs74900775
HELLPAR
12 102267582 non coding transcript exon variant T/C snv 4.9E-02
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs6214
rs6214
IGF1 ; HELLPAR ; LINC02456
0.672 0.400 12 102399791 3 prime UTR variant C/T snv 0.45
CUI: C0271183
Disease: Severe myopia
Severe myopia 		0.040 0.500 4 2011 2017
dbSNP: rs6214
rs6214
IGF1 ; HELLPAR ; LINC02456
0.672 0.400 12 102399791 3 prime UTR variant C/T snv 0.45
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.030 1.000 3 2010 2014
dbSNP: rs6220
rs6220
IGF1 ; HELLPAR ; LINC02456
0.925 0.080 12 102400737 3 prime UTR variant G/A snv 0.67
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.030 0.667 3 2011 2018
dbSNP: rs6220
rs6220
IGF1 ; HELLPAR ; LINC02456
0.925 0.080 12 102400737 3 prime UTR variant G/A snv 0.67
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.030 0.667 3 2011 2018
dbSNP: rs4764695
rs4764695
HELLPAR ; LINC02456
0.925 0.080 12 102363335 non coding transcript exon variant A/G;T snv
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.020 1.000 2 2010 2014
dbSNP: rs4764695
rs4764695
HELLPAR ; LINC02456
0.925 0.080 12 102363335 non coding transcript exon variant A/G;T snv
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.020 1.000 2 2010 2014
dbSNP: rs6214
rs6214
IGF1 ; HELLPAR ; LINC02456
0.672 0.400 12 102399791 3 prime UTR variant C/T snv 0.45
CUI: C0027092
Disease: Myopia
Myopia 		0.020 1.000 2 2011 2016
dbSNP: rs6220
rs6220
IGF1 ; HELLPAR ; LINC02456
0.925 0.080 12 102400737 3 prime UTR variant G/A snv 0.67
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.020 1.000 2 2013 2018
dbSNP: rs6220
rs6220
IGF1 ; HELLPAR ; LINC02456
0.925 0.080 12 102400737 3 prime UTR variant G/A snv 0.67
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.020 1.000 2 2013 2018
dbSNP: rs10860860
rs10860860
HELLPAR ; LINC02456
0.925 0.040 12 102387055 non coding transcript exon variant A/T snv 0.28
CUI: C0271183
Disease: Severe myopia
Severe myopia 		0.010 1.000 1 2011 2011
dbSNP: rs10860860
rs10860860
HELLPAR ; LINC02456
0.925 0.040 12 102387055 non coding transcript exon variant A/T snv 0.28
CUI: C0027092
Disease: Myopia
Myopia 		0.010 1.000 1 2011 2011
dbSNP: rs12426318
rs12426318
HELLPAR
1.000 0.040 12 102241743 non coding transcript exon variant C/A snv 0.18
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.010 1.000 1 2011 2011
dbSNP: rs2946834
rs2946834
HELLPAR ; LINC02456
0.807 0.200 12 102394036 non coding transcript exon variant A/G snv 0.63
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2013 2013
dbSNP: rs2946834
rs2946834
HELLPAR ; LINC02456
0.807 0.200 12 102394036 non coding transcript exon variant A/G snv 0.63
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2013 2013
dbSNP: rs2946834
rs2946834
HELLPAR ; LINC02456
0.807 0.200 12 102394036 non coding transcript exon variant A/G snv 0.63
CUI: C0280280
Disease: stage, prostate cancer
stage, prostate cancer 		0.010 1.000 1 2013 2013
dbSNP: rs2946834
rs2946834
HELLPAR ; LINC02456
0.807 0.200 12 102394036 non coding transcript exon variant A/G snv 0.63
CUI: C0027092
Disease: Myopia
Myopia 		0.010 1.000 1 2011 2011
dbSNP: rs2946834
rs2946834
HELLPAR ; LINC02456
0.807 0.200 12 102394036 non coding transcript exon variant A/G snv 0.63
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2013 2013