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+ Genes 127

+ Genes associated with diseases 28

Genes at Omim

AIRE, CBS, CLDN14, COL18A1, COL6A1, COL6A2, CRYAA, FTCD, HLCS, IFNGR2, ITGB2, KCNE1, KCNJ6, LIPI, LSS, MCM3AP, NRIP1, PCNT, PFKL, PIGP, RIPK4, RSPH1, SIK1, SON, SYNJ1, TMPRSS15, TMPRSS3, WDR4,
AIRE Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, 240300 (3)
CBS Homocystinuria, B6-responsive and nonresponsive types, 236200 (3)
Thrombosis, hyperhomocysteinemic, 236200 (3)
CLDN14 Deafness, autosomal recessive 29, 614035 (3)
COL18A1 Knobloch syndrome, type 1, 267750 (3)
COL6A1 Bethlem myopathy 1, 158810 (3)
Ullrich congenital muscular dystrophy 1, 254090 (3)
COL6A2 Bethlem myopathy 1, 158810 (3)
Ullrich congenital muscular dystrophy 1, 254090 (3)
?Myosclerosis, congenital, 255600 (3)
CRYAA Cataract 9, multiple types, 604219 (3)
FTCD Glutamate formiminotransferase deficiency, 229100 (3)
HLCS Holocarboxylase synthetase deficiency, 253270 (3)
IFNGR2 Immunodeficiency 28, mycobacteriosis, 614889 (3)
ITGB2 Leukocyte adhesion deficiency, 116920 (3)
KCNE1 Jervell and Lange-Nielsen syndrome 2, 612347 (3)
Long QT syndrome 5, 613695 (3)
KCNJ6 Keppen-Lubinsky syndrome, 614098 (3)
LIPI {Hypertriglyceridemia, susceptibility to}, 145750 (3)
LSS Cataract 44, 616509 (3)
Hypotrichosis 14, 618275 (3)
MCM3AP Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development, 618124 (3)
NRIP1 ?Congenital anomalies of kidney and urinary tract 3, 618270 (3)
PCNT Microcephalic osteodysplastic primordial dwarfism, type II, 210720 (3)
PFKL Hemolytic anemia due to phosphofructokinase deficiency (1)
PIGP ?Epileptic encephalopathy, early infantile, 55, 617599 (3)
RIPK4 CHAND syndrome, 214350 (3)
Popliteal pterygium syndrome, Bartsocas-Papas type, 263650 (3)
RSPH1 Ciliary dyskinesia, primary, 24, 615481 (3)
SIK1 Epileptic encephalopathy, early infantile, 30, 616341 (3)
SON ZTTK syndrome, 617140 (3)
SYNJ1 Epileptic encephalopathy, early infantile, 53, 617389 (3)
Parkinson disease 20, early-onset, 615530 (3)
TMPRSS15 Enterokinase deficiency, 226200 (3)
TMPRSS3 Deafness, autosomal recessive 8/10, 601072 (3)
WDR4 Galloway-Mowat syndrome 6, 618347 (3)
Microcephaly, growth deficiency, seizures, and brain malformations, 618346 (3)

Genes at Clinical Genomics Database

AIRE, CBS, CLDN14, COL18A1, COL6A1, COL6A2, CRYAA, FTCD, HLCS, IFNGR2, ITGB2, KCNE1, KCNJ6, LIPI, LSS, NRIP1, PCNT, RIPK4, RSPH1, SIK1, TMPRSS15, TMPRSS3,
AIRE Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia
CBS Homocystinuria due to cystathionine beta-synthase deficiency
CLDN14 Deafness, autosomal recessive 29
COL18A1 Knobloch syndrome 1
COL6A1 Ullrich congenital muscular dystrophy 1
Bethlem myopathy 1
COL6A2 Ullrich congenital muscular dystrophy 1
Myosclerosis, congenital
Bethlem myopathy 1
Epilepsy, progressive myoclonic, autosomal recessive
CRYAA Cataract 9, multiple types
FTCD Glutamate formiminotransferase deficiency
HLCS Holocarboxylase synthetase deficiency
IFNGR2 Immunodeficiency 28
ITGB2 Leukocyte adhesion deficiency, type I
KCNE1 Long QT syndrome 5
Jervell and Lange-Nielsen syndrome 2
KCNJ6 Keppen-Lubinsky syndrome
LIPI Hypertriglyceridemia, familial
LSS Cataract 44
NRIP1 Schizophrenia
PCNT Microcephalic osteodysplastic primordial dwarfism, type II
RIPK4 Popliteal pterygium syndrome, lethal type
Bartsocas-Papas syndrome
RSPH1 Ciliary dyskinesia, primary, 24
SIK1 Epileptic encephalopathy, early infantile 30
TMPRSS15 Enterokinase deficiency
TMPRSS3 Deafness, autosomal recessive 10
Deafness, autosomal recessive 8

Genes at HGMD

Summary

Number of Variants: 2279
Number of Genes: 127

Export to: CSV

ADAMTS1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm200801fps 21 rs436525
dbSNP Clinvar 		28212760 2800.12 G A PASS 0/1 115 SYNONYMOUS_CODING LOW SILENT 0.56590 0.56590 0.32493 None None None None None None ADAMTS1|0.304173311|27.34%
View mm200801fps 21 rs434857
dbSNP Clinvar 		28217178 19606.69 T G PASS 1/1 210 SYNONYMOUS_CODING LOW SILENT 0.68890 0.68890 0.17773 None None None None None None ADAMTS1|0.304173311|27.34%
View mm200801fps 21 rs149580995
dbSNP Clinvar 		28210368 712.25 G A PASS 0/1 49 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00140 0.00140 0.00423 0.00 0.85 None None None None None None ADAMTS1|0.304173311|27.34%
View mm200801fps 21 rs373460567
dbSNP Clinvar 		28215826 5241.73 C CACA PASS 1/1 30 None None None None None None None None None ADAMTS1|0.304173311|27.34%
View mm200801fps 21 rs428785
dbSNP Clinvar 		28216595 12882.69 C G PASS 1/1 106 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.68910 0.68910 0.18987 0.25 0.00 None None None None None None ADAMTS1|0.304173311|27.34%
View mm200801fps 21 rs370850
dbSNP Clinvar 		28216066 5494.69 C T PASS 1/1 37 None None None 0.68810 0.68810 0.20276 None None None None None None ADAMTS1|0.304173311|27.34%
View mm200801fps 21 rs445784
dbSNP Clinvar 		28216692 27915.69 G T PASS 1/1 246 SYNONYMOUS_CODING LOW SILENT 0.67812 0.67810 0.16880 None None None None None None ADAMTS1|0.304173311|27.34%
View mm200801fps 21 rs409630
dbSNP Clinvar 		28216674 4866.12 G C PASS 0/1 231 SYNONYMOUS_CODING LOW SILENT 0.17672 0.17670 0.15723 None None None None None None ADAMTS1|0.304173311|27.34%
View mm200801fps 21 rs3838077,rs397841322
dbSNP Clinvar 		28215836 4264.69 GC G PASS 1/1 33 None None None 0.68890 0.68890 None None None None None None ADAMTS1|0.304173311|27.34%

ADAMTS5
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm200801fps 21 rs226794
dbSNP Clinvar 		28302355 7324.89 A G PASS 0/1 105 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.80970 0.80970 0.08527 1.00 0.00 None None None None None None ADAMTS5|0.324991256|25.8%
View mm200801fps 21 rs55933916
dbSNP Clinvar 		28338423 5235.25 C G PASS 0/1 423 SYNONYMOUS_CODING LOW SILENT 0.09924 0.09924 0.16703 None None None None None None ADAMTS5|0.324991256|25.8%

AF165138.7
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm200801fps 21 rs456067
dbSNP Clinvar 		15974409 3811.69 T C PASS 1/1 34 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.00000 1.00000 1.00 0.00 None None None None None None None

AIRE
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm200801fps 21 rs1055311
dbSNP Clinvar 		45709568 3077.12 C T PASS 0/1 170 SYNONYMOUS_CODING LOW SILENT 0.11761 0.11760 0.20209 None None None None None None AIRE|0.006628229|83.92%

AP001468.1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm200801fps 21 rs2187120
dbSNP Clinvar 		47612466 22752.94 A G PASS 1|1 256 SYNONYMOUS_CODING LOW SILENT 0.58087 0.58090 None None None None None None LSS|0.346361251|24.39%
View mm200801fps 21 rs2187121
dbSNP Clinvar 		47612471 23928.94 T C PASS 1|1 260 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.58087 0.58090 0.19 0.76 None None None None None None LSS|0.346361251|24.39%

ATP5O
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm200801fps 21 rs9980730
dbSNP Clinvar 		35275955 9281.69 G A PASS 1/1 73 None None None 0.99101 0.99100 0.02237 None None None None None None ATP5O|0.055947808|60.93%
View mm200801fps 21 rs4591
dbSNP Clinvar 		35281393 3064.93 A G PASS 0/1 84 SYNONYMOUS_CODING LOW SILENT 0.70208 0.70210 0.29940 None None None None None None ATP5O|0.055947808|60.93%

B3GALT5
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm200801fps 21 rs3746887
dbSNP Clinvar 		41032740 10606.89 T C PASS 1/1 138 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.65336 0.65340 0.31493 1.00 0.00 None None None None None None B3GALT5|0.004441095|86.45%
View mm200801fps 21 rs734413
dbSNP Clinvar 		41032804 11734.89 G A PASS 1/1 150 SYNONYMOUS_CODING LOW SILENT 0.62939 0.62940 0.33746 None None None None None None B3GALT5|0.004441095|86.45%

BACE2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm200801fps 21 rs1046210
dbSNP Clinvar 		42622786 2207.93 C T PASS 0/1 52 SYNONYMOUS_CODING LOW SILENT 0.41893 0.41890 0.30132 None None None None None None BACE2|0.031049204|68.94%

BACH1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm200801fps 21 rs363431
dbSNP Clinvar 		30969901 3179.94 T C PASS 0/1 58 None None None 0.61082 0.61080 0.00 0.01 None None None None None None BACH1|0.113830282|48.51%,GRIK1|0.993633799|0.9%,GRIK1-AS2|0.001444575|93.08%
View mm200801fps 21 rs388707
dbSNP Clinvar 		30714776 4504.89 T C PASS 1/1 58 SYNONYMOUS_CODING LOW SILENT 0.56590 0.56590 0.49285 None None None None None None BACH1|0.113830282|48.51%

BRWD1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm200801fps 21 rs1041439
dbSNP Clinvar 		40571246 6795.69 A G PASS 1/1 59 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.85284 0.85280 0.05336 0.52 0.00 None None None None None None BRWD1|0.163713366|41.06%
View mm200801fps 21 rs2056844
dbSNP Clinvar 		40670460 2545.91 G C PASS 0/1 47 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.47844 0.47840 0.45725 0.28 0.00 None None None None None None BRWD1|0.163713366|41.06%
View mm200801fps 21 rs2836972
dbSNP Clinvar 		40652142 2215.91 G A PASS 0/1 42 SYNONYMOUS_CODING LOW SILENT 0.21506 0.21510 0.33308 None None None None None None BRWD1|0.163713366|41.06%
View mm200801fps 21 rs6517529
dbSNP Clinvar 		40584598 4919.69 C T PASS 1/1 37 SYNONYMOUS_CODING LOW SILENT 0.85164 0.85160 0.05362 None None None None None None BRWD1|0.163713366|41.06%
View mm200801fps 21 rs2183573
dbSNP Clinvar 		40574305 3654.91 A G PASS 0/1 51 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.61861 0.61860 0.40143 0.03 0.77 None None None None None None BRWD1|0.163713366|41.06%

C21orf128
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm200801fps 21 rs220111
dbSNP Clinvar 		43523941 5144.12 C A PASS 0/1 172 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.30631 0.30630 0.30740 0.03 0.02 None None None None None None UMODL1|0.002901681|88.83%,UMODL1-AS1|0.000431351|98.79%

C21orf140
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm200801fps 21 rs61740755
dbSNP Clinvar 		35772977 2073.25 G C PASS 0/1 140 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.09405 0.09405 1.00 0.00 None None None None None None SMIM11|0.019757234|74.32%

C21orf33
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm200801fps 21 rs968714
dbSNP Clinvar 		45553596 57483.69 T C PASS 1/1 614 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.59185 0.59190 0.34155 0.83 0.00 None None None None None None C21orf33|0.016835395|76%
View mm200801fps 21 rs7676
dbSNP Clinvar 		45565473 4153.69 C T PASS 1/1 46 None None None 0.75200 0.75200 None None None None None None C21orf33|0.016835395|76%

C21orf49
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm200801fps 21 rs72564613
dbSNP Clinvar 		34169317 5731.93 C CT PASS 1/1 54 FRAME_SHIFT HIGH 0.73183 0.73180 None None None None None None C21orf62-AS1|0.000768866|96.88%,C21orf62|0.009914309|80.91%

C21orf62
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm200801fps 21 rs74617086
dbSNP Clinvar 		34166190 11617.69 A T PASS 1/1 115 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.00000 1.00000 1.00 0.00 None None None None None None C21orf62-AS1|0.000768866|96.88%,C21orf62|0.009914309|80.91%
View mm200801fps 21 rs2231390
dbSNP Clinvar 		34166343 15638.89 C T PASS 1/1 189 SYNONYMOUS_CODING LOW SILENT 0.72744 0.72740 0.28794 None None None None None None C21orf62-AS1|0.000768866|96.88%,C21orf62|0.009914309|80.91%

C21orf67
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm200801fps 21 rs11088971
dbSNP Clinvar 		46355710 3013.12 A G PASS 0/1 124 SYNONYMOUS_CODING LOW SILENT 0.46286 0.46290 0.49737 None None None None None None LINC01547|0.001110417|94.89%

C21orf88
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm200801fps 21 rs662571
dbSNP Clinvar 		40969826 11502.69 G C PASS 1/1 115 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.99940 0.99940 0.00110 0.03 0.00 None None None None None None B3GALT5|0.004441095|86.45%,B3GALT5-AS1|0.00047299|98.57%

C21orf91
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm200801fps 21 rs1047978
dbSNP Clinvar 		19169155 1845.12 G C PASS 0/1 72 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.26058 0.26060 0.25946 0.08 0.55 None None None None None None C21orf91|0.173207879|39.92%

C2CD2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm200801fps 21 rs3746904
dbSNP Clinvar 		43327793 2143.93 C T PASS 0/1 63 SYNONYMOUS_CODING LOW SILENT 0.36582 0.36580 0.35322 None None None None None None C2CD2|0.005649792|85.05%
View mm200801fps 21 rs3746906
dbSNP Clinvar 		43327856 2775.93 A G PASS 0/1 79 SYNONYMOUS_CODING LOW SILENT 0.60743 0.60740 0.36568 None None None None None None C2CD2|0.005649792|85.05%

CBR1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm200801fps 21 rs1005696
dbSNP Clinvar 		37443480 7311.94 T G PASS 0/1 133 None None None 0.59685 0.59680 0.71 0.00 None None None None None None SETD4|0.031167746|68.91%,CBR1|0.018056419|75.24%

CBR3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm200801fps 21 rs881712
dbSNP Clinvar 		37507769 3847.12 C T PASS 0/1 163 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.30851 0.30850 0.33905 None None None None None None CBR3|0.052541759|61.89%
View mm200801fps 21 rs8133052
dbSNP Clinvar 		37507501 7456.12 G A PASS 0/1 263 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.36681 0.36680 0.37228 0.60 0.00 None None None None None None CBR3|0.052541759|61.89%
View mm200801fps 21 rs881711
dbSNP Clinvar 		37507745 13207.89 C T PASS 1/1 182 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.82029 0.82030 0.15339 None None None None None None CBR3|0.052541759|61.89%
View mm200801fps 21 rs1056892
dbSNP Clinvar 		37518706 5738.12 G A PASS 0/1 244 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.42712 0.42710 0.39874 0.07 0.21 None None None None None None CBR3|0.052541759|61.89%

CBS
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm200801fps 21 rs234706
dbSNP Clinvar 		44485350 7653.94 G A PASS 1/1 123 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.19649 0.19650 0.30609 None None None None None None CBS|0.170288794|40.28%
View mm200801fps 21 rs760124
dbSNP Clinvar 		44475953 3661.12 T C PASS 0/1 128 None None None 0.05631 0.05631 0.01 0.00 None None None None None None CBS|0.170288794|40.28%
View mm200801fps 21 rs8132811
dbSNP Clinvar 		44475877 2102.12 C T PASS 0/1 86 None None None 0.19209 0.19210 None None None None None None CBS|0.170288794|40.28%

CCT8
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm200801fps 21 rs142657269
dbSNP Clinvar 		30437355 767.25 T C PASS 0/1 60 SYNONYMOUS_CODING LOW SILENT 0.00160 0.00160 0.00138 None None None None None None CCT8|0.473967824|17.02%

CLDN14
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm200801fps 21 rs219779
dbSNP Clinvar 		37833751 4823.93 G A PASS 0/1 132 SYNONYMOUS_CODING LOW SILENT 0.19010 0.19010 0.27626 None None None None None None CLDN14|0.178050404|39.29%
View mm200801fps 21 rs113831133
dbSNP Clinvar 		37833983 805.25 G A PASS 0/1 51 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.04712 0.04712 0.04395 1.00 0.05 None None None None None None CLDN14|0.178050404|39.29%

CLIC6
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm200801fps 21 rs6517254
dbSNP Clinvar 		36080290 2679.94 C T PASS 0/1 39 SYNONYMOUS_CODING LOW SILENT 0.37001 0.37000 0.46179 None None None None None None CLIC6|0.002510101|89.68%
View mm200801fps 21 rs7280973
dbSNP Clinvar 		36041978 3948.69 A G PASS 1/1 39 SYNONYMOUS_CODING LOW SILENT 1.00000 1.00000 None None None None None None CLIC6|0.002510101|89.68%
View mm200801fps 21 rs9680380
dbSNP Clinvar 		36042203 7271.69 G C PASS 1/1 90 SYNONYMOUS_CODING LOW SILENT 1.00000 1.00000 None None None None None None CLIC6|0.002510101|89.68%

COL18A1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm200801fps 21 rs2236467
dbSNP Clinvar 		46900410 1515.25 C T PASS 0/1 177 SYNONYMOUS_CODING LOW SILENT 0.15595 0.15600 0.12962 None None None None None None COL18A1|0.045578537|64.02%
View mm200801fps 21 rs8133886
dbSNP Clinvar 		46876580 6032.12 C T PASS 0/1 251 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.42652 0.42650 0.00 0.96 None None None None None None COL18A1|0.045578537|64.02%
View mm200801fps 21 rs11702494
dbSNP Clinvar 		46876306 6872.12 G A PASS 0/1 290 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.20088 0.20090 0.25340 0.57 0.00 None None None None None None COL18A1|0.045578537|64.02%
View mm200801fps 21 rs1131100
dbSNP Clinvar 		46899842 849.25 C T PASS 0|1 43 SYNONYMOUS_CODING LOW SILENT 0.16314 0.16310 0.13102 None None None None None None COL18A1|0.045578537|64.02%
View mm200801fps 21 rs17338853
dbSNP Clinvar 		46896381 3455.25 G T PASS 0/1 289 SYNONYMOUS_CODING LOW SILENT 0.02855 0.02855 0.02896 None None None None None None COL18A1|0.045578537|64.02%
View mm200801fps 21 rs914230
dbSNP Clinvar 		46875564 38046.69 T C PASS 1/1 364 SYNONYMOUS_CODING LOW SILENT 0.98842 0.98840 0.03067 None None None None None None COL18A1|0.045578537|64.02%
View mm200801fps 21 rs2236451
dbSNP Clinvar 		46876083 7714.12 A G PASS 0/1 314 SYNONYMOUS_CODING LOW SILENT 0.37560 0.37560 0.38293 None None None None None None COL18A1|0.045578537|64.02%
View mm200801fps 21 rs2236452
dbSNP Clinvar 		46876173 8240.12 C T PASS 0/1 303 SYNONYMOUS_CODING LOW SILENT 0.20827 0.20830 0.20629 None None None None None None COL18A1|0.045578537|64.02%
View mm200801fps 21 rs62000962
dbSNP Clinvar 		46910210 785.25 G A PASS 0/1 65 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.11562 0.11560 0.12344 0.14 0.01 None None None None None None COL18A1|0.045578537|64.02%
View mm200801fps 21 rs1050351
dbSNP Clinvar 		46929467 6909.91 G A PASS 1/1 148 SYNONYMOUS_CODING LOW SILENT 0.50359 0.50360 0.37778 None None None None None None COL18A1|0.045578537|64.02%,SLC19A1|0.006805855|83.69%
View mm200801fps 21 rs11702425
dbSNP Clinvar 		46908355 1847.25 T C PASS 0/1 133 SYNONYMOUS_CODING LOW SILENT 0.31989 0.31990 0.31287 None None None None None None COL18A1|0.045578537|64.02%
View mm200801fps 21 rs149296338,rs78227997
dbSNP Clinvar 		46924425 9244.69 CG... C PASS 1/1 69 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None COL18A1|0.045578537|64.02%,SLC19A1|0.006805855|83.69%
View mm200801fps 21 rs1131102
dbSNP Clinvar 		46899872 1095.25 C A PASS 0|1 56 SYNONYMOUS_CODING LOW SILENT 0.14038 0.14040 0.11418 None None None None None None COL18A1|0.045578537|64.02%
View mm200801fps 21 rs1131101
dbSNP Clinvar 		46899857 1077.25 C T PASS 0|1 52 SYNONYMOUS_CODING LOW SILENT 0.15735 0.15730 0.13061 None None None None None None COL18A1|0.045578537|64.02%

COL6A1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm200801fps 21 rs13051496
dbSNP Clinvar 		47423509 11462.91 C T PASS 0/1 280 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.10883 0.10880 0.16187 0.06 0.04 None None None None None None COL6A1|0.085741402|53.99%

COL6A2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm200801fps 21 rs2276101
dbSNP Clinvar 		47545346 2809.25 C T PASS 0/1 230 None None None 0.13898 0.13900 0.05506 0.14 0.00 None None None None None None COL6A2|0.07894144|55.42%
View mm200801fps 21 rs149954350
dbSNP Clinvar 		47545369 2207.29 A AC PASS 0/1 212 None None None 0.00060 0.15690 None None None None None None COL6A2|0.07894144|55.42%
View mm200801fps 21 rs11554669
dbSNP Clinvar 		47552103 2772.25 G T PASS 0/1 218 SYNONYMOUS_CODING LOW SILENT 0.01697 0.01697 0.02941 None None None None None None COL6A2|0.07894144|55.42%
View mm200801fps 21 rs2839110
dbSNP Clinvar 		47538960 10942.69 G A PASS 1/1 125 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.70527 0.70530 0.27077 0.91 0.00 None None None None None None COL6A2|0.07894144|55.42%

CRYAA
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm200801fps 21 rs872331
dbSNP Clinvar 		44589215 2722.93 C T PASS 0/1 96 SYNONYMOUS_CODING LOW SILENT 0.50000 0.50000 0.35630 None None None None None None CRYAA|0.039898534|65.8%

DIP2A
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm200801fps 21 rs7279002
dbSNP Clinvar 		47910523 878.25 A G PASS 0/1 74 SYNONYMOUS_CODING LOW SILENT 0.35883 0.35880 0.29676 None None None None None None DIP2A|0.064095824|58.86%
View mm200801fps 21 rs2070435
dbSNP Clinvar 		47961711 833.25 G A PASS 0/1 75 SYNONYMOUS_CODING LOW SILENT 0.38738 0.38740 0.37032 None None None None None None DIP2A|0.064095824|58.86%

DNMT3L
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm200801fps 21 rs7354779
dbSNP Clinvar 		45670770 483.12 T C PASS 0/1 34 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.16514 0.16510 0.25496 0.00 0.19 None None None None None None DNMT3L|0.006860897|83.61%

DOPEY2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm200801fps 21 rs4817788
dbSNP Clinvar 		37617630 22571.94 T G PASS 0/1 329 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.94928 0.94930 0.09949 1.00 0.00 None None None None None None DOPEY2|0.051933664|62.08%
View mm200801fps 21 rs2835322
dbSNP Clinvar 		37609571 16317.89 T C PASS 1/1 224 SYNONYMOUS_CODING LOW SILENT 0.43990 0.43990 0.47424 None None None None None None DOPEY2|0.051933664|62.08%

DSCAM
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm200801fps 21 rs41395652
dbSNP Clinvar 		41725625 700.25 C T PASS 0/1 50 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01138 0.01138 0.03333 0.09 0.04 None None None None None None DSCAM|0.620706258|11.07%

DSCR4
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm200801fps 21 rs61731605
dbSNP Clinvar 		39493232 2561.25 G A PASS 0/1 181 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01018 0.01018 0.02199 0.93 None None None None None None DSCR4|0.001091323|94.96%

ETS2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm200801fps 21 rs457705
dbSNP Clinvar 		40191431 7837.94 T G PASS 1/1 135 SYNONYMOUS_CODING LOW SILENT 0.58107 0.58110 0.22874 None None None None None None ETS2|0.453014646|18.03%
View mm200801fps 21 rs461155
dbSNP Clinvar 		40191638 6028.94 A G PASS 1/1 125 SYNONYMOUS_CODING LOW SILENT 0.58067 0.58070 0.22943 None None None None None None ETS2|0.453014646|18.03%

EVA1C
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm200801fps 21 rs1129157
dbSNP Clinvar 		33887131 986.1 G A PASS 1/1 30 SYNONYMOUS_CODING LOW SILENT 0.49082 0.49080 0.37060 None None None None None None EVA1C|0.061100423|59.56%

FAM3B
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm200801fps 21 rs417708
dbSNP Clinvar 		42717662 2457.94 T C PASS 1/1 48 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.91154 0.91150 0.11256 None None None None None None FAM3B|0.008580766|82.07%

FTCD
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm200801fps 21 rs10432965
dbSNP Clinvar 		47557222 2495.25 G A PASS 0/1 190 SYNONYMOUS_CODING LOW SILENT 0.16753 0.16750 0.09165 None None None None None None FTCD|0.026135815|71.26%
View mm200801fps 21 rs61729391
dbSNP Clinvar 		47571845 865.25 C T PASS 0/1 78 SYNONYMOUS_CODING LOW SILENT 0.08846 0.08846 0.06663 None None None None None None FTCD|0.026135815|71.26%
View mm200801fps 21 rs1047209
dbSNP Clinvar 		47556809 3652.1 C T PASS 1/1 117 None None None 0.15855 0.15850 None None None None None None FTCD|0.026135815|71.26%
View mm200801fps 21 rs12774
dbSNP Clinvar 		47556793 5652.94 C T PASS 0/1 119 None None None 0.55192 0.55190 0.00 None None None None None None FTCD|0.026135815|71.26%

GART
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm200801fps 21 rs773507612
dbSNP Clinvar 		34901177 729.25 G C PASS 0/1 62 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.58 0.00 None None None None None None GART|0.670681358|9.36%
View mm200801fps 21 rs8788
dbSNP Clinvar 		34897113 8690.69 C T PASS 1/1 69 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.87420 0.87420 0.19160 1.00 0.00 None None None None None None GART|0.670681358|9.36%

GRIK1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm200801fps 21 rs140332609
dbSNP Clinvar 		31062092 1632.25 T C PASS 0/1 158 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00020 0.00020 0.00023 0.01 0.89 None None None None None None GRIK1|0.993633799|0.9%

HLCS
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm200801fps 21 rs1065758
dbSNP Clinvar 		38308911 3125.25 G A PASS 0/1 257 SYNONYMOUS_CODING LOW SILENT 0.07129 0.07129 0.12679 None None None None None None HLCS|0.002146669|90.61%

HUNK
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm200801fps 21 rs9305483
dbSNP Clinvar 		33370900 6024.1 T C PASS 1/1 202 SYNONYMOUS_CODING LOW SILENT 0.63478 0.63480 0.38182 None None None None None None HUNK|0.065973255|58.37%
View mm200801fps 21 rs2070371
dbSNP Clinvar 		33368188 1859.91 T C PASS 1/1 43 SYNONYMOUS_CODING LOW SILENT 0.70308 0.70310 0.25704 None None None None None None HUNK|0.065973255|58.37%

ICOSLG
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm200801fps 21 rs7278772
dbSNP Clinvar 		45649494 1918.23 A G PASS 1/1 52 SYNONYMOUS_CODING LOW SILENT None None None None None None ICOSLG|0.0015876|92.37%
View mm200801fps 21 rs7280853
dbSNP Clinvar 		45649640 3478.91 C T PASS 1/1 69 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.18910 0.18910 0.02 0.00 None None None None None None ICOSLG|0.0015876|92.37%

IFNGR2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm200801fps 21 rs9808753
dbSNP Clinvar 		34787312 747.25 A G PASS 0/1 67 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.27197 0.27200 0.16715 0.91 0.00 None None None None None None IFNGR2|0.002693249|89.26%

IGHV1OR21-1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm200801fps 21 rs3916645
dbSNP Clinvar 		10862846 97756.69 A T PASS 1/1 944 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.87320 0.87320 0.06054 1.00 0.00 None None None None None None None
View mm200801fps 21 rs1961808
dbSNP Clinvar 		10862853 30823.93 G A PASS 0/1 969 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.39015 0.18 0.00 None None None None None None None

IGSF5
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm200801fps 21 rs2837200
dbSNP Clinvar 		41142940 2180.91 G A PASS 1/1 38 SYNONYMOUS_CODING LOW SILENT 0.10164 0.10160 0.22882 None None None None None None IGSF5|0.001638685|92.17%