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: rs11130381
rs11130381
CHDH
3 53815978 3 prime UTR variant C/T snv 0.47
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		0.700 1.000 1 2019 2019
dbSNP: rs14165
rs14165
CACNA1D ; CHDH
1.000 3 53813381 3 prime UTR variant A/G;T snv
CUI: C0034951
Disease: Refractive Errors
Refractive Errors 		0.700 1.000 1 2013 2013
dbSNP: rs14165
rs14165
CACNA1D ; CHDH
1.000 3 53813381 3 prime UTR variant A/G;T snv
CUI: C4025843
Disease: Abnormality of refraction
Abnormality of refraction 		0.700 1.000 1 2013 2013
dbSNP: rs6445607
rs6445607
CHDH
3 53843122 intron variant G/A;T snv
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs12676
rs12676
CHDH
0.827 0.240 3 53823776 missense variant A/C;T snv 0.77
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.010 1.000 1 2017 2017
dbSNP: rs12676
rs12676
CHDH
0.827 0.240 3 53823776 missense variant A/C;T snv 0.77
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2008 2008
dbSNP: rs12676
rs12676
CHDH
0.827 0.240 3 53823776 missense variant A/C;T snv 0.77
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2008 2008
dbSNP: rs12676
rs12676
CHDH
0.827 0.240 3 53823776 missense variant A/C;T snv 0.77
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		0.010 1.000 1 2017 2017
dbSNP: rs12676
rs12676
CHDH
0.827 0.240 3 53823776 missense variant A/C;T snv 0.77
CUI: C0008412
Disease: Choline Deficiency
Choline Deficiency 		0.010 1.000 1 2006 2006
dbSNP: rs2289205
rs2289205
CHDH ; IL17RB
1.000 0.040 3 53844589 5 prime UTR variant C/T snv 0.27
CUI: C0014175
Disease: Endometriosis
Endometriosis 		0.010 1.000 1 2011 2011
dbSNP: rs35518479
rs35518479
CHDH
1.000 0.040 3 53839787 intron variant A/G snv 0.37
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.010 1.000 1 2019 2019
dbSNP: rs6445606
rs6445606
CHDH
1.000 0.080 3 53822023 intron variant C/G;T snv
CUI: C0020608
Disease: Hypodontia
Hypodontia 		0.010 1.000 1 2011 2011
dbSNP: rs755789977
rs755789977
CHDH
1.000 0.040 3 53823891 missense variant C/T snv 1.6E-05
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.010 < 0.001 1 2010 2010
dbSNP: rs893363
rs893363
CACNA1D ; CHDH
1.000 0.040 3 53813035 3 prime UTR variant G/A snv 0.54
CUI: C0014175
Disease: Endometriosis
Endometriosis 		0.010 1.000 1 2011 2011
dbSNP: rs9001
rs9001
CHDH
0.925 0.080 3 53823890 missense variant T/G snv 0.15 0.17
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia 		0.010 1.000 1 2009 2009
dbSNP: rs9001
rs9001
CHDH
0.925 0.080 3 53823890 missense variant T/G snv 0.15 0.17
CUI: C0008412
Disease: Choline Deficiency
Choline Deficiency 		0.010 1.000 1 2006 2006
dbSNP: rs9836592
rs9836592
CHDH
0.925 0.120 3 53821056 intron variant C/T snv 0.74
CUI: C0006012
Disease: Borderline Personality Disorder
Borderline Personality Disorder 		0.010 1.000 1 2017 2017
dbSNP: rs9836592
rs9836592
CHDH
0.925 0.120 3 53821056 intron variant C/T snv 0.74
CUI: C0006287
Disease: Bronchopulmonary Dysplasia
Bronchopulmonary Dysplasia 		0.010 1.000 1 2017 2017