Gene Directory

147 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)
CHEK2
checkpoint kinase 2
975 variants Chr 22 Checkpoint kinase 2 family
LZTR1
leucine zipper like post translational regulator 1
679 variants Chr 22 BTB domain containing
DEPDC5
DEP domain containing 5, GATOR1 subcomplex subunit
361 variants Chr 22 "GATOR1 subcomplex|DEP domain ...
NF2
NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor
341 variants Chr 22 "A-kinase anchoring proteins|F...
ARSA
arylsulfatase A
312 variants Chr 22 Sulfatases
EP300
EP300 lysine acetyltransferase
305 variants Chr 22 "Zinc fingers ZZ-type|Lysine a...
MYH9
myosin heavy chain 9
284 variants Chr 22 "Myosin heavy chains, class II...
PLA2G6
phospholipase A2 group VI
231 variants Chr 22 "Ankyrin repeat domain contain...
CYP2D6
cytochrome P450 family 2 subfamily D member 6 (gene/pseudogene)
215 variants Chr 22 Cytochrome P450 family 2
TYMP
thymidine phosphorylase
191 variants Chr 22 Minor histocompatibility antig...
TUBGCP6
tubulin gamma complex component 6
173 variants Chr 22 Tubulin gamma complex componen...
SHANK3
SH3 and multiple ankyrin repeat domains 3
171 variants Chr 22 "Ankyrin repeat domain contain...
TRMU
tRNA mitochondrial 2-thiouridylase
167 variants Chr 22
COMT
catechol-O-methyltransferase
162 variants Chr 22 "MicroRNA protein coding host ...
SOX10
SRY-box transcription factor 10
161 variants Chr 22 SRY-box transcription factors
TCF20
transcription factor 20
161 variants Chr 22 PHD finger proteins
MYO18B
myosin XVIIIB
143 variants Chr 22 Myosin heavy chains, class XVI...
MLC1
modulator of VRAC current 1
131 variants Chr 22
SMARCB1
SWI/SNF related BAF chromatin remodeling complex subunit B1
128 variants Chr 22 "Protein phosphatase 1 regulat...
HPS4
HPS4 biogenesis of lysosomal organelles complex 3 subunit 2
114 variants Chr 22 Biogenesis of lysosomal organe...
TRIOBP
TRIO and F-actin binding protein
113 variants Chr 22 Pleckstrin homology domain con...
ADSL
adenylosuccinate lyase
107 variants Chr 22 Purinosome
ACO2
aconitase 2
90 variants Chr 22
ADA2
adenosine deaminase 2
85 variants Chr 22 Adenosine deaminase family
PEX26
peroxisomal biogenesis factor 26
82 variants Chr 22 Peroxins
SBF1
SET binding factor 1
80 variants Chr 22 "DENN domain containing|Plecks...
TBX1
T-box transcription factor 1
79 variants Chr 22 T-box transcription factors
TCN2
transcobalamin 2
76 variants Chr 22
SCO2
synthesis of cytochrome C oxidase 2
69 variants Chr 22 Mitochondrial respiratory chai...
LARGE1
LARGE xylosyl- and glucuronyltransferase 1
67 variants Chr 22 "Glycosyltransferase family 8|...
ALG12
ALG12 alpha-1,6-mannosyltransferase
65 variants Chr 22 Dolichyl D-mannosyl phosphate ...
IL17RA
interleukin 17 receptor A
64 variants Chr 22 "CD molecules|Interleukin rece...
NEFH
neurofilament heavy chain
62 variants Chr 22 Intermediate filaments Type IV
CHKB
choline kinase beta
60 variants Chr 22 Choline kinase family
FBXO7
F-box protein 7
50 variants Chr 22 F-boxes other
MORC2
MORC family CW-type zinc finger 2
50 variants Chr 22 Zinc fingers CW-type
SLC5A1
solute carrier family 5 member 1
50 variants Chr 22 Solute carrier family 5
TMPRSS6
transmembrane serine protease 6
47 variants Chr 22 Type II transmembrane serine p...
TNRC6B
trinucleotide repeat containing adaptor 6B
46 variants Chr 22 "Armadillo like helical domain...
NAGA
alpha-N-acetylgalactosaminidase
44 variants Chr 22 Galactosidases alpha
CYB5R3
cytochrome b5 reductase 3
41 variants Chr 22 Flavoproteins
GP1BB
glycoprotein Ib platelet subunit beta
39 variants Chr 22 "CD molecules|Human platelet a...
UPB1
beta-ureidopropionase 1
39 variants Chr 22
TXNRD2
thioredoxin reductase 2
36 variants Chr 22 "Selenoproteins|Flavoproteins"
TANGO2
transport and golgi organization 2 homolog
35 variants Chr 22 MicroRNA protein coding host g...
PRODH
proline dehydrogenase 1
33 variants Chr 22 Flavoproteins
CDC45
cell division cycle 45
31 variants Chr 22 CMG helicase complex
MN1
MN1 proto-oncogene, transcriptional regulator
31 variants Chr 22
PI4KA
phosphatidylinositol 4-kinase alpha
31 variants Chr 22 "Armadillo like helical domain...
SPECC1L
sperm antigen with calponin homology and coiled-coil domains 1 like
30 variants Chr 22
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