PDZRN3, PDZ domain containing ring finger 3, 23024

N. diseases: 11; 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: rs11128347
rs11128347 		1.000 0.080 3 73570410 intron variant G/C;T snv 0.13
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2011 2011
dbSNP: rs11709074
rs11709074 		1.000 0.040 3 73457952 intron variant T/C snv 0.12
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs11915881
rs11915881 		1.000 0.040 3 73475345 intron variant T/C snv 5.2E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs13087058
rs13087058 		3 73502077 intron variant T/C snv 0.26
CUI: C0429087
Disease: Electrocardiogram: P-R interval
Electrocardiogram: P-R interval 		0.700 1.000 1 2018 2018
dbSNP: rs1565176
rs1565176 		1.000 0.040 3 73474178 intron variant G/A snv 0.28
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs17703683
rs17703683 		1.000 0.040 3 73462179 intron variant T/A;C snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs4461368
rs4461368 		3 73550154 intron variant C/T snv 0.72
CUI: C0429087
Disease: Electrocardiogram: P-R interval
Electrocardiogram: P-R interval 		0.700 1.000 1 2019 2019
dbSNP: rs6549543
rs6549543 		1.000 0.040 3 73470908 intron variant A/G snv 0.28
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs6769380
rs6769380 		1.000 0.040 3 73473922 intron variant T/C snv 0.16
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs6784863
rs6784863 		1.000 0.040 3 73475923 intron variant G/A snv 0.14
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs748809996
rs748809996 		1.000 0.040 3 73602452 missense variant C/T snv 2.2E-05 9.6E-06
CUI: C0036346
Disease: Schizophrenia, Childhood
Schizophrenia, Childhood 		Mental Disorders 0.700 1.000 1 2016 2016
dbSNP: rs7651823
rs7651823 		1.000 0.040 3 73460762 intron variant T/C snv 0.59
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs747762087
rs747762087 		3 73384465 missense variant T/A;G snv 7.0E-06
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs778037798
rs778037798 		3 73388079 non coding transcript exon variant A/G snv 4.9E-05 3.5E-05
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0