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: rs121909071
rs121909071
1.000 0.080 11 2918030 missense variant C/T snv 7.0E-06
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
Neoplasms; Respiratory Tract Diseases 0.800 1.000 5 2013 2014
dbSNP: rs16928809
rs16928809
11 2915722 intron variant G/A;T snv
CUI: C0344395
Disease: Bilirubin measurement
Bilirubin measurement
0.800 1.000 1 2009 2009
dbSNP: rs1661052
rs1661052
11 2921363 non coding transcript exon variant G/A snv 0.89
CUI: C0344395
Disease: Bilirubin measurement
Bilirubin measurement
0.700 1.000 1 2018 2018
dbSNP: rs16928809
rs16928809
11 2915722 intron variant G/A;T snv
High density lipoprotein measurement
0.700 1.000 1 2017 2017
dbSNP: rs16928809
rs16928809
11 2915722 intron variant G/A;T snv
CUI: C1287365
Disease: Bilirubin level result
Bilirubin level result
0.700 1.000 1 2009 2009
dbSNP: rs78838117
rs78838117
1.000 11 2909210 missense variant G/A snv 1.4E-02 2.7E-03
CUI: C4016802
Disease: RHABDOMYOSARCOMA, SOMATIC
RHABDOMYOSARCOMA, SOMATIC
0.700 0
dbSNP: rs749280481
rs749280481
0.925 0.160 11 2922102 missense variant G/A snv 1.3E-04 1.4E-04
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.010 1.000 1 1998 1998
dbSNP: rs749280481
rs749280481
0.925 0.160 11 2922102 missense variant G/A snv 1.3E-04 1.4E-04
CUI: C1333015
Disease: Childhood Kidney Wilms Tumor
Childhood Kidney Wilms Tumor
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 1998 1998
dbSNP: rs749280481
rs749280481
0.925 0.160 11 2922102 missense variant G/A snv 1.3E-04 1.4E-04
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 1998 1998