Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs6901250
rs6901250
6 116792862 synonymous variant G/A snv 0.33 0.29
CUI: C0201657
Disease: C-reactive protein measurement
C-reactive protein measurement
0.800 1.000 1 2011 2011
dbSNP: rs2274911
rs2274911
0.851 0.160 6 116809541 missense variant G/A snv 0.72 0.74
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
Neoplasms; Male Urogenital Diseases 0.020 1.000 2 2013 2016
dbSNP: rs2274911
rs2274911
0.851 0.160 6 116809541 missense variant G/A snv 0.72 0.74
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
Neoplasms; Male Urogenital Diseases 0.020 1.000 2 2013 2016
dbSNP: rs1372996723
rs1372996723
6 116792416 missense variant A/G snv 4.0E-06
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs143913245
rs143913245
1.000 0.040 6 116800741 missense variant A/T snv 1.1E-03 4.6E-03
CUI: C1384582
Disease: Primary testicular failure
Primary testicular failure
Endocrine System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1445182466
rs1445182466
1.000 0.040 6 116809366 missense variant G/A snv
Idiopathic hypogonadotropic hypogonadism
Endocrine System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs2274911
rs2274911
0.851 0.160 6 116809541 missense variant G/A snv 0.72 0.74
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs2274911
rs2274911
0.851 0.160 6 116809541 missense variant G/A snv 0.72 0.74
CUI: C0028960
Disease: Oligospermia
Oligospermia
Male Urogenital Diseases 0.010 1.000 1 2016 2016
dbSNP: rs2274911
rs2274911
0.851 0.160 6 116809541 missense variant G/A snv 0.72 0.74
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs2274911
rs2274911
0.851 0.160 6 116809541 missense variant G/A snv 0.72 0.74
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs763810877
rs763810877
1.000 0.040 6 116806885 missense variant T/C snv 1.2E-04 3.5E-05
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis
Musculoskeletal Diseases 0.010 1.000 1 2008 2008
dbSNP: rs779229249
rs779229249
0.925 0.040 6 116807037 missense variant A/G snv 4.0E-06
CUI: C0001342
Disease: Acute periodontitis
Acute periodontitis
Stomatognathic Diseases 0.010 1.000 1 2020 2020
dbSNP: rs779229249
rs779229249
0.925 0.040 6 116807037 missense variant A/G snv 4.0E-06
CUI: C0031106
Disease: Aggressive Periodontitis
Aggressive Periodontitis
Stomatognathic Diseases 0.010 1.000 1 2020 2020