Gene Directory

177 genes with known genetic variants in our database.

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All Chr 1(621) Chr 2(446) Chr 3(370) Chr 4(242) Chr 5(266) Chr 6(311) Chr 7(286) Chr 8(216) Chr 9(250) Chr 10(250) Chr 11(386) Chr 12(324) Chr 13(111) Chr 14(198) Chr 15(221) Chr 16(276) Chr 17(359) Chr 18(87) Chr 19(346) Chr 20(177) Chr 21(71) Chr 22(147) Chr X(397) Chr Y(4)
KCNQ2
potassium voltage-gated channel subfamily Q member 2
658 variants Chr 20 Potassium voltage-gated channe...
JAG1
jagged canonical Notch ligand 1
580 variants Chr 20 "CD molecules|MicroRNA protein...
RTEL1
regulator of telomere elongation helicase 1
320 variants Chr 20 DEAH-box helicases
ASXL1
ASXL transcriptional regulator 1
222 variants Chr 20
GNAS
GNAS complex locus
206 variants Chr 20 "Granins|G protein subunits al...
HNF4A
hepatocyte nuclear factor 4 alpha
203 variants Chr 20 "MicroRNA protein coding host ...
SLC4A11
solute carrier family 4 member 11
187 variants Chr 20 Solute carrier family 4
ADNP
activity dependent neuroprotector homeobox
181 variants Chr 20 "Zinc fingers C2H2-type|ZF cla...
PANK2
pantothenate kinase 2
153 variants Chr 20 "MicroRNA protein coding host ...
KCNB1
potassium voltage-gated channel subfamily B member 1
145 variants Chr 20 "Potassium voltage-gated chann...
SAMHD1
SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1
142 variants Chr 20 Sterile alpha motif domain con...
ADA
adenosine deaminase
138 variants Chr 20 Adenosine deaminase family
MKKS
MKKS centrosomal shuttling protein
134 variants Chr 20 Chaperonins
CHRNA4
cholinergic receptor nicotinic alpha 4 subunit
126 variants Chr 20 Cholinergic receptors nicotini...
NDUFAF5
NADH:ubiquinone oxidoreductase complex assembly factor 5
108 variants Chr 20 "Mitochondrial respiratory cha...
SEC23B
SEC23 homolog B, COPII component
108 variants Chr 20 Coat protein complex II
COL9A3
collagen type IX alpha 3 chain
95 variants Chr 20 "Collagen proteoglycans|Fibril...
SLC2A10
solute carrier family 2 member 10
93 variants Chr 20 Solute carrier family 2
CEP250
centrosomal protein 250
90 variants Chr 20
DNMT3B
DNA methyltransferase 3 beta
85 variants Chr 20 "PWWP domain containing|7BS C5...
CTSA
cathepsin A
84 variants Chr 20 Cathepsins
LAMA5
laminin subunit alpha 5
81 variants Chr 20 "Laminin subunits|MicroRNA pro...
SALL4
spalt like transcription factor 4
76 variants Chr 20 Zinc fingers C2H2-type
PLCB1
phospholipase C beta 1
72 variants Chr 20 "Phospholipases|C2 domain cont...
ABHD12
abhydrolase domain containing 12, lysophospholipase
71 variants Chr 20 "Abhydrolase domain containing...
ARFGEF2
ARF guanine nucleotide exchange factor 2
68 variants Chr 20 "A-kinase anchoring proteins|A...
GSS
glutathione synthetase
64 variants Chr 20
JPH2
junctophilin 2
63 variants Chr 20 Junctophilins
CYP24A1
cytochrome P450 family 24 subfamily A member 1
61 variants Chr 20 Cytochrome P450 family 24
EEF1A2
eukaryotic translation elongation factor 1 alpha 2
59 variants Chr 20 Translational GTPases
SLC12A5
solute carrier family 12 member 5
56 variants Chr 20 Solute carrier family 12
CSNK2A1
casein kinase 2 alpha 1
55 variants Chr 20
SNTA1
syntrophin alpha 1
55 variants Chr 20 PDZ domain containing
GDF5
growth differentiation factor 5
54 variants Chr 20 "MicroRNA protein coding host ...
KIZ
kizuna centrosomal protein
54 variants Chr 20
TGM6
transglutaminase 6
52 variants Chr 20 Transglutaminases
FERMT1
FERM domain containing kindlin 1
51 variants Chr 20 "Fermitins|Pleckstrin homology...
ZNF335
zinc finger protein 335
45 variants Chr 20 Zinc fingers C2H2-type
SLC52A3
solute carrier family 52 member 3
42 variants Chr 20 "Solute carrier family 52|Flav...
PIGT
phosphatidylinositol glycan anchor biosynthesis class T
41 variants Chr 20 "Phosphatidylinositol glycan a...
RBCK1
RANBP2-type and C3HC4-type zinc finger containing 1
39 variants Chr 20 "Ring finger proteins|Zinc fin...
IDH3B
isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta
35 variants Chr 20 Isocitrate dehydrogenases
ITPA
inosine triphosphatase
35 variants Chr 20
TUBB1
tubulin beta 1 class VI
34 variants Chr 20 Tubulin beta family
AHCY
adenosylhomocysteinase
33 variants Chr 20
PRPF6
pre-mRNA processing factor 6
33 variants Chr 20 U5 small nuclear ribonucleopro...
PROKR2
prokineticin receptor 2
32 variants Chr 20 Prokineticin receptors
BMP2
bone morphogenetic protein 2
31 variants Chr 20 Bone morphogenetic proteins
MYLK2
myosin light chain kinase 2
31 variants Chr 20 Myosin light chain kinase fami...
THBD
thrombomodulin
31 variants Chr 20 "CD molecules|C-type lectin do...
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