Gene Directory

6,394 genes with known genetic variants in our database.

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)
RUSC2
RUN and SH3 domain containing 2
47 variants Chr 9
SBDS
SBDS ribosome maturation factor
47 variants Chr 7 Ribosomal biogenesis factors
SLC27A4
solute carrier family 27 member 4
47 variants Chr 9 "Acyl-CoA synthetase family|So...
SLC6A19
solute carrier family 6 member 19
47 variants Chr 5 Solute carrier family 6
TANC2
tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2
47 variants Chr 17 "Ankyrin repeat domain contain...
TCAP
titin-cap
47 variants Chr 17
TMPRSS6
transmembrane serine protease 6
47 variants Chr 22 Type II transmembrane serine p...
TPRN
taperin
47 variants Chr 9
TTC19
tetratricopeptide repeat domain 19
47 variants Chr 17 "Mitochondrial respiratory cha...
ZAP70
zeta chain of T cell receptor associated protein kinase 70
47 variants Chr 2 "SH2 domain containing|Syk fam...
ZBTB24
zinc finger and BTB domain containing 24
47 variants Chr 6 "Zinc fingers C2H2-type|BTB do...
ACADSB
acyl-CoA dehydrogenase short/branched chain
46 variants Chr 10 "Acyl-CoA dehydrogenase family...
ARL6
ARF like GTPase 6
46 variants Chr 3 ARF GTPase family
B3GALT6
beta-1,3-galactosyltransferase 6
46 variants Chr 1 Beta 3-glycosyltransferases
C8B
complement C8 beta chain
46 variants Chr 1 "Complement system activation ...
CPOX
coproporphyrinogen oxidase
46 variants Chr 3
CTLA4
cytotoxic T-lymphocyte associated protein 4
46 variants Chr 2 "CD molecules|V-set domain con...
DCDC2
doublecortin domain containing 2
46 variants Chr 6 Doublecortin superfamily
DNAJB6
DnaJ heat shock protein family (Hsp40) member B6
46 variants Chr 7 DNAJ (HSP40) heat shock protei...
DSG1
desmoglein 1
46 variants Chr 18 Desmosomal cadherins
EPB42
erythrocyte membrane protein band 4.2
46 variants Chr 15 Transglutaminases
ETFB
electron transfer flavoprotein subunit beta
46 variants Chr 19 Flavoproteins
GABBR2
gamma-aminobutyric acid type B receptor subunit 2
46 variants Chr 9 Gamma-aminobutyric acid type B...
GPHN
gephyrin
46 variants Chr 14
HECW2
HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2
46 variants Chr 2 "C2 domain containing|Nedd4 fa...
HERC2
HECT and RLD domain containing E3 ubiquitin protein ligase 2
46 variants Chr 15 "Zinc fingers ZZ-type|HECT and...
HIBCH
3-hydroxyisobutyryl-CoA hydrolase
46 variants Chr 2
HPDL
4-hydroxyphenylpyruvate dioxygenase like
46 variants Chr 1 Glyoxalase domain containing
KLHL40
kelch like family member 40
46 variants Chr 3 "Kelch like|BTB domain contain...
MAGT1
magnesium transporter 1
46 variants Chr X "Oligosaccharyltransferase com...
MMP13
matrix metallopeptidase 13
46 variants Chr 11 "Receptor ligands|M10 matrix m...
NDUFS4
NADH:ubiquinone oxidoreductase subunit S4
46 variants Chr 5 NADH:ubiquinone oxidoreductase...
NR3C2
nuclear receptor subfamily 3 group C member 2
46 variants Chr 4 Nuclear receptor subfamily 3 g...
PLOD2
procollagen-lysine,2-oxoglutarate 5-dioxygenase 2
46 variants Chr 3 Procollagen-lysine,2-oxoglutar...
PRPS1
phosphoribosyl pyrophosphate synthetase 1
46 variants Chr X
SHANK2
SH3 and multiple ankyrin repeat domains 2
46 variants Chr 11 "Ankyrin repeat domain contain...
TNFRSF13B
TNF receptor superfamily member 13B
46 variants Chr 17 "CD molecules|Tumor necrosis f...
TNNT1
troponin T1, slow skeletal type
46 variants Chr 19 Troponin complex subunits
TNRC6B
trinucleotide repeat containing adaptor 6B
46 variants Chr 22 "Armadillo like helical domain...
ANKS6
ankyrin repeat and sterile alpha motif domain containing 6
45 variants Chr 9 "Ankyrin repeat domain contain...
CACNB2
calcium voltage-gated channel auxiliary subunit beta 2
45 variants Chr 10 "Membrane associated guanylate...
CFAP410
cilia and flagella associated protein 410
45 variants Chr 21
CLDN16
claudin 16
45 variants Chr 3 Claudins
CNTNAP1
contactin associated protein 1
45 variants Chr 17 Contactin associated protein f...
COQ4
coenzyme Q4
45 variants Chr 9
CUX1
cut like homeobox 1
45 variants Chr 7 "CUT class homeoboxes and pseu...
DDHD2
DDHD domain containing 2
45 variants Chr 8 Sterile alpha motif domain con...
DDR2
discoidin domain receptor tyrosine kinase 2
45 variants Chr 1 Receptor tyrosine kinases
DOLK
dolichol kinase
45 variants Chr 9
DONSON
DNA replication fork stabilization factor DONSON
45 variants Chr 21
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