Gene Directory

71 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)
COL6A2
collagen type VI alpha 2 chain
531 variants Chr 21 Collagens
COL6A1
collagen type VI alpha 1 chain
493 variants Chr 21 Collagens
PCNT
pericentrin
485 variants Chr 21
CBS
cystathionine beta-synthase
296 variants Chr 21
DYRK1A
dual specificity tyrosine phosphorylation regulated kinase 1A
265 variants Chr 21 Dual-specificity tyrosine-regu...
COL18A1
collagen type XVIII alpha 1 chain
258 variants Chr 21 "MicroRNA protein coding host ...
AIRE
autoimmune regulator
218 variants Chr 21 "PHD finger proteins|SAND doma...
HLCS
holocarboxylase synthetase
215 variants Chr 21
SON
SON DNA and RNA binding protein
168 variants Chr 21 "G-patch domain containing|Min...
RUNX1
RUNX family transcription factor 1
163 variants Chr 21 Runt-related transcription fac...
TMPRSS3
transmembrane serine protease 3
131 variants Chr 21 "Scavenger receptor cysteine r...
ITGB2
integrin subunit beta 2
114 variants Chr 21 "CD molecules|Integrin beta su...
MCM3AP
minichromosome maintenance complex component 3 associated protein
104 variants Chr 21 "Lysine acetyltransferases|Tra...
SOD1
superoxide dismutase 1
102 variants Chr 21 Superoxide dismutases
TSPEAR
thrombospondin type laminin G domain and EAR repeats
92 variants Chr 21
SYNJ1
synaptojanin 1
66 variants Chr 21 Phosphoinositide phosphatases
SIK1
salt inducible kinase 1
59 variants Chr 21 SIK family kinases
TMPRSS15
transmembrane serine protease 15
59 variants Chr 21 "Scavenger receptor cysteine r...
KCNE1
potassium voltage-gated channel subfamily E regulatory subunit 1
58 variants Chr 21 Potassium voltage-gated channe...
APP
amyloid beta precursor protein
52 variants Chr 21 Receptor ligands
CFAP410
cilia and flagella associated protein 410
45 variants Chr 21
DONSON
DNA replication fork stabilization factor DONSON
45 variants Chr 21
IFNAR1
interferon alpha and beta receptor subunit 1
36 variants Chr 21 Interferon receptors
LSS
lanosterol synthase
34 variants Chr 21
CLDN14
claudin 14
33 variants Chr 21 Claudins
IL10RB
interleukin 10 receptor subunit beta
28 variants Chr 21 "CD molecules|Interleukin rece...
RSPH1
radial spoke head component 1
28 variants Chr 21 Axonemal radial spoke subunits
SCAF4
SR-related CTD associated factor 4
28 variants Chr 21 RNA binding motif containing
CSTB
cystatin B
27 variants Chr 21 Cystatins, type 1
KCNE2
potassium voltage-gated channel subfamily E regulatory subunit 2
24 variants Chr 21 Potassium voltage-gated channe...
FTCD
formimidoyltransferase cyclodeaminase
19 variants Chr 21
IFNGR2
interferon gamma receptor 2
19 variants Chr 21 "Fibronectin type III domain c...
IFNAR2
interferon alpha and beta receptor subunit 2
18 variants Chr 21 Interferon receptors
RIPK4
receptor interacting serine/threonine kinase 4
17 variants Chr 21 "Ankyrin repeat domain contain...
WDR4
WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit
16 variants Chr 21 WD repeat domain containing
CRYAA
crystallin alpha A
13 variants Chr 21 Small heat shock proteins
ICOSLG
inducible T cell costimulator ligand
13 variants Chr 21 "CD molecules|Receptor ligands...
CFAP298
cilia and flagella associated protein 298
10 variants Chr 21 "Cilia and flagella associated...
ITSN1
intersectin 1
10 variants Chr 21 "Pleckstrin homology domain co...
NRIP1
nuclear receptor interacting protein 1
10 variants Chr 21
ADARB1
adenosine deaminase RNA specific B1
7 variants Chr 21 Adenosine deaminases acting on...
JAM2
junctional adhesion molecule 2
7 variants Chr 21 "CD molecules|V-set domain con...
MRAP
melanocortin 2 receptor accessory protein
7 variants Chr 21
DSCAM
DS cell adhesion molecule
6 variants Chr 21 "Fibronectin type III domain c...
TIAM1
TIAM Rac1 associated GEF 1
5 variants Chr 21 "Pleckstrin homology domain co...
TRAPPC10
trafficking protein particle complex subunit 10
5 variants Chr 21 Trafficking protein particle c...
BRWD1
bromodomain and WD repeat domain containing 1
4 variants Chr 21 Bromodomain and WD repeat doma...
KCNJ6
potassium inwardly rectifying channel subfamily J member 6
4 variants Chr 21 Potassium inwardly rectifying ...
MRPL39
mitochondrial ribosomal protein L39
4 variants Chr 21 "Mitochondrial ribosomal prote...
PDXK
pyridoxal kinase
4 variants Chr 21
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