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: rs191299947
rs191299947
15 80585216 intron variant G/A snv 1.7E-03
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function
0.700 1.000 1 2015 2015
dbSNP: rs7169055
rs7169055
0.925 0.040 15 80542179 intron variant T/C snv 0.42
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
0.700 1.000 1 2018 2018
dbSNP: rs7169055
rs7169055
0.925 0.040 15 80542179 intron variant T/C snv 0.42
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis
Musculoskeletal Diseases 0.700 1.000 1 2018 2018
dbSNP: rs5000770
rs5000770
0.882 0.160 15 80424141 intron variant G/A snv 0.27
CUI: C0848558
Disease: Hypospadias
Hypospadias
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.020 1.000 2 2012 2012
dbSNP: rs5000770
rs5000770
0.882 0.160 15 80424141 intron variant G/A snv 0.27
CUI: C1691215
Disease: Penile hypospadias
Penile hypospadias
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.020 1.000 2 2012 2012
dbSNP: rs1020397
rs1020397
0.882 0.160 15 80426396 intron variant G/C;T snv
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1020397
rs1020397
0.882 0.160 15 80426396 intron variant G/C;T snv
CUI: C1691215
Disease: Penile hypospadias
Penile hypospadias
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1020397
rs1020397
0.882 0.160 15 80426396 intron variant G/C;T snv
CUI: C0848558
Disease: Hypospadias
Hypospadias
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2012 2012
dbSNP: rs5000770
rs5000770
0.882 0.160 15 80424141 intron variant G/A snv 0.27
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2012 2012