ZNF335, zinc finger protein 335, 63925

N. diseases: 45; N. variants: 17
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: rs397514642
rs397514642 		1.000 20 45950453 missense variant C/A;T snv
CUI: C3554499
Disease: MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE 		0.800 1.000 1 2012 2012
dbSNP: rs1350201776
rs1350201776 		20 45952244 missense variant C/T snv 4.0E-06
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 5 2009 2016
dbSNP: rs1350201776
rs1350201776 		20 45952244 missense variant C/T snv 4.0E-06
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 5 2009 2016
dbSNP: rs1350201776
rs1350201776 		20 45952244 missense variant C/T snv 4.0E-06
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.700 1.000 5 2009 2016
dbSNP: rs1555851216
rs1555851216 		20 45967790 frameshift variant -/G delins
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.700 1.000 5 2009 2016
dbSNP: rs3092073
rs3092073 		20 45967010 non coding transcript exon variant G/A snv 0.44
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 2 2018 2019
dbSNP: rs4465830
rs4465830 		20 45956781 intron variant A/G snv 0.13
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 2 2016 2019
dbSNP: rs3827066
rs3827066 		0.925 0.040 20 45957384 intron variant C/T snv 0.12
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.700 1.000 1 2018 2018
dbSNP: rs4465830
rs4465830 		20 45956781 intron variant A/G snv 0.13
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012
dbSNP: rs4465830
rs4465830 		20 45956781 intron variant A/G snv 0.13
CUI: C0201657
Disease: C-reactive protein measurement
C-reactive protein measurement 		0.700 1.000 1 2016 2016
dbSNP: rs4465830
rs4465830 		20 45956781 intron variant A/G snv 0.13
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2019 2019
dbSNP: rs6032606
rs6032606 		1.000 0.080 20 45967568 missense variant C/A;G snv 0.84
CUI: C0007570
Disease: Celiac Disease
Celiac Disease 		Digestive System Diseases; Nutritional and Metabolic Diseases 0.700 1.000 1 2016 2016
dbSNP: rs6073971
rs6073971 		20 45961331 intron variant C/T snv 0.13
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012
dbSNP: rs6073972
rs6073972 		20 45961659 non coding transcript exon variant C/G snv 0.13
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2015 2015
dbSNP: rs6073972
rs6073972 		20 45961659 non coding transcript exon variant C/G snv 0.13
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2019 2019
dbSNP: rs6073972
rs6073972 		20 45961659 non coding transcript exon variant C/G snv 0.13
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012
dbSNP: rs6124760
rs6124760 		20 45952814 intron variant C/G snv 4.7E-02
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2017 2017
dbSNP: rs6130975
rs6130975 		20 45948343 downstream gene variant G/A;C snv
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2017 2017
dbSNP: rs6130975
rs6130975 		20 45948343 downstream gene variant G/A;C snv
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2017 2017
dbSNP: rs749190523
rs749190523 		1.000 20 45949365 stop gained C/A;T snv 4.0E-06
CUI: C3554499
Disease: MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE 		0.700 1.000 1 2017 2017
dbSNP: rs1568822376
rs1568822376 		1.000 20 45963607 missense variant A/G snv
CUI: C3554499
Disease: MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs753460205
rs753460205 		1.000 20 45952665 frameshift variant TCAC/- delins 1.2E-04 1.6E-04
CUI: C3554499
Disease: MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs753888773
rs753888773 		1.000 20 45963501 missense variant T/A;C snv 4.0E-06; 8.0E-06
CUI: C3554499
Disease: MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs797046124
rs797046124 		1.000 20 45953872 frameshift variant -/TGGC delins 4.0E-06; 4.0E-06
CUI: C3554499
Disease: MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs3827066
rs3827066 		0.925 0.040 20 45957384 intron variant C/T snv 0.12
CUI: C0162871
Disease: Aortic Aneurysm, Abdominal
Aortic Aneurysm, Abdominal 		Cardiovascular Diseases 0.010 < 0.001 1 2020 2020