INVS, inversin, 27130

N. diseases: 74; N. variants: 14
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: rs121964995
rs121964995
1.000 0.080 9 100264835 missense variant T/C snv
CUI: C1865872
Disease: NEPHRONOPHTHISIS 2
NEPHRONOPHTHISIS 2
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.800 1.000 1 2003 2003
dbSNP: rs200844390
rs200844390
0.925 0.080 9 100292952 stop gained C/A;T snv 1.6E-05; 4.8E-05
CUI: C1865872
Disease: NEPHRONOPHTHISIS 2
NEPHRONOPHTHISIS 2
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 5 2003 2013
dbSNP: rs753348470
rs753348470
1.000 0.080 9 100253125 frameshift variant C/- del 8.4E-05 5.6E-05
CUI: C1865872
Disease: NEPHRONOPHTHISIS 2
NEPHRONOPHTHISIS 2
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 3 2003 2011
dbSNP: rs121964994
rs121964994
0.925 0.080 9 100284342 stop gained C/T snv 1.2E-05
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 2 2003 2011
dbSNP: rs1322951938
rs1322951938
1.000 0.080 9 100293045 splice donor variant T/C;G snv
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2003 2003
dbSNP: rs200844390
rs200844390
0.925 0.080 9 100292952 stop gained C/A;T snv 1.6E-05; 4.8E-05
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2013 2013
dbSNP: rs376879175
rs376879175
1.000 0.080 9 100293039 stop gained C/A;T snv 1.2E-05; 1.6E-05
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2013 2013
dbSNP: rs6479003
rs6479003
9 100186403 intron variant A/G snv 0.93
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
0.700 1.000 1 2019 2019
dbSNP: rs878855332
rs878855332
1.000 0.080 9 100253088 frameshift variant G/- delins
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2013 2013
dbSNP: rs878855333
rs878855333
1.000 0.080 9 100300600 frameshift variant A/- delins
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2013 2013
dbSNP: rs121964994
rs121964994
0.925 0.080 9 100284342 stop gained C/T snv 1.2E-05
CUI: C1865872
Disease: NEPHRONOPHTHISIS 2
NEPHRONOPHTHISIS 2
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs1425211517
rs1425211517
1.000 0.080 9 100297017 stop gained C/T snv
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs150001738
rs150001738
1.000 0.080 9 100284591 stop gained A/G;T snv 3.1E-04 3.3E-04
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs1564123602
rs1564123602
1.000 0.080 9 100126450 frameshift variant -/CAGA delins
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs267607185
rs267607185
1.000 0.080 9 100292976 stop gained C/A;G;T snv 3.4E-04; 1.6E-05
CUI: C1865872
Disease: NEPHRONOPHTHISIS 2
NEPHRONOPHTHISIS 2
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs145570263
rs145570263
9 100292626 missense variant C/A;T snv 4.0E-06
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2016 2016