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Genes:
A4GALT, ACO2, ADM2, ADORA2A, AIFM3, ALG12, AP1B1, APOBEC3B, APOBEC3F, APOBEC3G, APOBEC3H, APOL1, APOL2, APOL3, APOL4, APOL5, ARFGAP3, ARSA, ASCC2, ASPHD2, ATF4, ATP5L2, BAIAP2L2, BCL2L13, BCR, BPIFC, C1QTNF6, C22orf23, C22orf31, C22orf46, CABIN1, CACNA1I, CCDC157, CCT8L2, CDC42EP1, CECR1, CECR2, CECR5, CELSR1, CERK, CLDN5, CLTCL1, CPT1B, CRELD2, CRYBA4, CRYBB3, CSDC2, CYP2D6, CYTH4, DGCR14, DGCR2, DGCR6L, DNAL4, EFCAB6, EIF3D, EIF3L, EIF4ENIF1, ELFN2, EP300, FAM109B, FAM118A, FAM83F, FBLN1, FOXRED2, GAB4, GAL3ST1, GAS2L1, GCAT, GGT5, GNAZ, GRAMD4, GTSE1, HDAC10, HMGXB4, HPS4, IL17RA, IL17REL, IL2RB, INPP5J, ISX, KCNJ4, KCTD17, KIAA1671, KLHDC7B, L3MBTL2, LARGE, LGALS2, LIMK2, LMF2, LRP5L, LZTR1, MAPK11, MAPK12, MAPK8IP2, MB, MCAT, MCHR1, MCM5, MEI1, MGAT3, MICAL3, MICALL1, MIOX, MKL1, MLC1, MMP11, MN1, MORC2, MOV10L1, MPPED1, MPST, MTFP1, MTMR3, MYH9, MYO18B, NAGA, NCF4, NEFH, NIPSNAP1, NOL12, NPTXR, OSBP2, PACSIN2, PARVB, PARVG, PES1, PI4KA, PIK3IP1, PIM3, PIWIL3, PLA2G3, PLXNB2, PNPLA3, PNPLA5, PPM1F, PPP6R2, PRAME, PRODH, PRR5, RAB36, RANGAP1, RFPL1, RHBDD3, RIBC2, RNF215, RRP7A, RTDR1, SAMM50, SBF1, SCARF2, SCO2, SCUBE1, SEC14L3, SEC14L4, SEC14L6, SELO, SERHL2, SF3A1, SFI1, SGSM1, SLC16A8, SLC2A11, SLC35E4, SLC7A4, SMC1B, SMTN, SNAP29, SNRPD3, SOX10, SPECC1L, SREBF2, SRRD, SSTR3, TBC1D10A, TBX1, TCN2, TFIP11, THAP7, THOC5, TIMP3, TMEM184B, TMPRSS6, TNRC6B, TOB2, TOM1, TPST2, TRIOBP, TSPO, TTC28, TTC38, TTLL1, TTLL12, TUBGCP6, TXNRD2, TYMP, UPK3A, USP18, VPREB1, WBP2NL, XBP1, XKR3, ZDHHC8, ZNF280A, ZNF280B, ZNF74,

Genes at Omim

A4GALT, ACO2, ALG12, APOL1, APOL2, APOL4, ARSA, BCR, CRYBA4, CRYBB3, CYP2D6, DGCR2, DNAL4, EP300, FBLN1, HPS4, IL17RA, KCTD17, LARGE, LGALS2, LZTR1, MCM5, MKL1, MLC1, MN1, MORC2, MYH9, MYO18B, NAGA, NCF4, NEFH, PI4KA, PRODH, SBF1, SCARF2, SCO2, SNAP29, SOX10, SPECC1L, TBX1, TCN2, TIMP3, TMPRSS6, TRIOBP, TUBGCP6, TXNRD2, TYMP, USP18, XBP1,
A4GALT NOR polyagglutination syndrome, 111400 (3)
[Blood group, P1Pk system, P(2) phenotype], 111400 (3)
[Blood group, P1Pk system, p phenotype], 111400 (3)
ACO2 Infantile cerebellar-retinal degeneration, 614559 (3)
?Optic atrophy 9, 616289 (3)
ALG12 Congenital disorder of glycosylation, type Ig, 607143 (3)
APOL1 {Glomerulosclerosis, focal segmental, 4, susceptibility to}, 612551 (3)
{End-stage renal disease, nondiabetic, susceptibility to}, 612551 (3)
APOL2 {Schizophrenia}, 181500 (1)
APOL4 {Schizophrenia}, 181500 (1)
ARSA Metachromatic leukodystrophy, 250100 (3)
BCR Leukemia, acute lymphocytic, somatic, 613065 (3)
Leukemia, chronic myeloid, somatic, 608232 (3)
CRYBA4 Cataract 23, 610425 (3)
CRYBB3 Cataract 22, 609741 (3)
CYP2D6 {Codeine sensitivity}, 608902 (3)
{Debrisoquine sensitivity}, 608902 (3)
DGCR2 DiGeorge syndrome/velocardiofacial syndrome complex-2 (2)
DNAL4 ?Mirror movements 3, 616059 (3)
EP300 Colorectal cancer, somatic, 114500 (3)
Menke-Hennekam syndrome 2, 618333 (3)
Rubinstein-Taybi syndrome 2, 613684 (3)
FBLN1 Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses, 608180 (4)
HPS4 Hermansky-Pudlak syndrome 4, 614073 (3)
IL17RA Immunodeficiency 51, 613953 (3)
KCTD17 Dystonia 26, myoclonic, 616398 (3)
LARGE Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, 613154 (3)
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, 608840 (3)
LGALS2 {Myocardial infarction, susceptibility to}, 608446 (3)
LZTR1 {Schwannomatosis-2, susceptibility to}, 615670 (3)
Noonan syndrome 10, 616564 (3)
Noonan syndrome 2, 605275 (3)
MCM5 ?Meier-Gorlin syndrome 8, 617564 (3)
MKL1 Megakaryoblastic leukemia, acute (3)
MLC1 Megalencephalic leukoencephalopathy with subcortical cysts, 604004 (3)
MN1 Meningioma, 607174 (3)
MORC2 Charcot-Marie-Tooth disease, axonal, type 2Z, 616688 (3)
MYH9 Deafness, autosomal dominant 17, 603622 (3)
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, 155100 (3)
MYO18B Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, 616549 (3)
NAGA Kanzaki disease, 609242 (3)
Schindler disease, type I, 609241 (3)
Schindler disease, type III, 609241 (3)
NCF4 ?Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III, 613960 (3)
NEFH Charcot-Marie-Tooth disease, axonal, type 2CC, 616924 (3)
?{Amyotrophic lateral sclerosis, susceptibility to}, 105400 (3)
PI4KA Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, 616531 (3)
PRODH Hyperprolinemia, type I, 239500 (3)
{Schizophrenia, susceptibility to, 4}, 600850 (3)
SBF1 Charcot-Marie-Tooth disease, type 4B3, 615284 (3)
SCARF2 Van den Ende-Gupta syndrome, 600920 (3)
SCO2 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377 (3)
Myopia 6, 608908 (3)
SNAP29 Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, 609528 (3)
SOX10 PCWH syndrome, 609136 (3)
Waardenburg syndrome, type 2E, with or without neurologic involvement, 611584 (3)
Waardenburg syndrome, type 4C, 613266 (3)
SPECC1L Hypertelorism, Teebi type, 145420 (3)
?Facial clefting, oblique, 1, 600251 (3)
Opitz GBBB syndrome, type II, 145410 (3)
TBX1 Conotruncal anomaly face syndrome, 217095 (3)
DiGeorge syndrome, 188400 (3)
Tetralogy of Fallot, 187500 (3)
Velocardiofacial syndrome, 192430 (3)
TCN2 Transcobalamin II deficiency, 275350 (3)
TIMP3 Sorsby fundus dystrophy, 136900 (3)
TMPRSS6 Iron-refractory iron deficiency anemia, 206200 (3)
TRIOBP Deafness, autosomal recessive 28, 609823 (3)
TUBGCP6 Microcephaly and chorioretinopathy, autosomal recessive, 1, 251270 (3)
TXNRD2 ?Glucocorticoid deficiency 5, 617825 (3)
TYMP Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041 (3)
USP18 Pseudo-TORCH syndrome 2, 617397 (3)
XBP1 {Major affective disorder-7, susceptibility to}, 612371 (3)

Genes at Clinical Genomics Database

A4GALT, ACO2, ALG12, ARSA, BCR, CECR1, CRYBA4, CRYBB3, CYP2D6, DGCR2, DNAL4, EP300, FBLN1, HPS4, IL17RA, KCTD17, LARGE, LZTR1, MLC1, MN1, MORC2, MYH9, MYO18B, NAGA, NCF4, NEFH, PI4KA, PRODH, SBF1, SCARF2, SCO2, SNAP29, SOX10, SPECC1L, TBX1, TCN2, TIMP3, TMPRSS6, TRIOBP, TUBGCP6, TYMP, UPK3A,
A4GALT Blood group, P system
ACO2 Infantile cerebellar-retinal degeneration
Optic atrophy 9
ALG12 Congenital disorder of glycosylation, type Ig
ARSA Metachromatic leukodystrophy
BCR CML treatment, response to
CECR1 Polyarteritis nodosa, childhood-onset (ADA2 deficiency)
Sneddon syndrome
CRYBA4 Cataract 23
CRYBB3 Cataract, congenital nuclear, autosomal recessive, 2
CYP2D6 Drug metabolism, CYP2CD6-related
DGCR2 Schizophrenia
DNAL4 Mirror movements 3
EP300 Rubinstein-Taybi syndrome 2
FBLN1 Synpolydactyly 2
HPS4 Hermansky-Pudlak syndrome 4
IL17RA Candiasis, familial, 5
KCTD17 Dystonia 26, myoclonic
LARGE Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6
LZTR1 Schwannomatosis 2
Noonan syndrome 10
MLC1 Megalencephalic leukoencephalopathy with subcortical cysts
MN1 Meningioma, familial
MORC2 Charcot-Marie-Tooth disease type, axonal, type 2Z
MYH9 Sebastian syndrome
May-Hegglin anomaly
Fechtner syndrome
Epstein syndrome
Macrothrombocytopenia and progressive sensorineural deafness
MYO18B Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism
NAGA Kanzaki disease
Alpha-n-acetylgalactosaminidase deficiency
Schindler disease type I
Schindler disease type III
NCF4 Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III
NEFH Charcot-Marie-Tooth disease, axonal, type 2CC
PI4KA Perisylvian polymicrogyria, cerebellar hypoplasia, and arthrogryposis
PRODH Hyperprolinemia, type I
SBF1 Charcot-Marie-Tooth disease, type 4B3
SCARF2 Van den Ende-Gupta syndrome
SCO2 Myopia 6
Leigh syndrome
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1
Hypertrophic cardiomyopathy
SNAP29 Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (CEDNIK syndrome)
SOX10 Waardenburg syndrome, type 4C
Waardenburg syndrome, type 2E
Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease
Hirschsprung disease, susceptibility to, 10
SPECC1L Facial clefting, oblique, 1
Opitz GBBB syndrome, type II
TBX1 Conotruncal anomaly face syndrome
Tetralogy of Fallot
TCN2 Transcobalamin II deficiency
TIMP3 Sorsby fundus dystrophy
TMPRSS6 Iron-refractory iron deficiency anemia
TRIOBP Deafness, autosomal recessive 28
TUBGCP6 Microcephaly and chorioretinopathy, autosomal recessive 1
TYMP Mitochondrial DNA depletion syndrome 1 (MNGIE type)
UPK3A Renal/urogenital adysplasia

Genes at HGMD

Summary

Number of Variants: 738
Number of Genes: 205

Export to: CSV

A4GALT

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 fam3 AWJ 22 rs6002904
dbSNP Clinvar
43089055 1541.87 G C PASS 0/1 213 SYNONYMOUS_CODING LOW None 0.69529 0.69530 0.34674 None None None None None None A4GALT|0.02220674|73.08%

ACO2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fam3 AWJ 22 rs1799932
dbSNP Clinvar
41911525 581.78 C T PASS 1/1 44 SYNONYMOUS_CODING LOW None 0.27037 0.27040 0.38375 None None None None None None ACO2|0.657906877|9.8%

ADM2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fam3 AWJ 22 rs200343776
dbSNP Clinvar
50920324 121.4 C G PASS 0/1 47 None None None 0.00040 0.00040 0.00041 0.18 0.34 None None None None None None ADM2|0.006259599|84.34%
View fam3 AWJ 22 rs72438078,rs3840963
dbSNP Clinvar
50921148 373.23 AA... A PASS 0/1 135 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.11761 0.11760 0.07880 None None None None None None ADM2|0.006259599|84.34%
View fam3 AWJ 22 . 50921277 67.99 C T PASS 0/1 72 NON_SYNONYMOUS_CODING MODERATE None 0.01 1.00 None None None None None None ADM2|0.006259599|84.34%

ADORA2A

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fam3 AWJ 22 rs5751876
dbSNP Clinvar
24837301 1940.77 T C PASS 1/1 181 SYNONYMOUS_CODING LOW None 0.44229 0.44230 0.48193 None None None None None None ADORA2A|0.246666916|31.87%

AIFM3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fam3 AWJ 22 rs178269
dbSNP Clinvar
21331043 1627.09 A T PASS 1/1 146 SYNONYMOUS_CODING LOW None 1.00000 1.00000 None None None None None None AIFM3|0.183569407|38.59%

ALG12

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fam3 AWJ 22 rs1321
dbSNP Clinvar
50297435 505.21 T C PASS 0/1 201 None None None 0.40216 0.40220 0.38093 0.00 None None None None None None ALG12|0.005312033|85.41%
View fam3 AWJ 22 rs8135963
dbSNP Clinvar
50301476 262.93 T C PASS 0/1 158 SYNONYMOUS_CODING LOW None 0.40216 0.40220 0.38336 None None None None None None ALG12|0.005312033|85.41%
View fam3 AWJ 22 rs3922872
dbSNP Clinvar
50297888 208.62 T C PASS 0/1 124 NON_SYNONYMOUS_CODING MODERATE None 0.09165 0.09165 0.09134 0.85 None None None None None None ALG12|0.005312033|85.41%

AP1B1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fam3 AWJ 22 rs174765
dbSNP Clinvar
29727866 213.57 C T PASS 0/1 37 SYNONYMOUS_CODING LOW None 0.53195 0.53190 0.48370 None None None None None None AP1B1|0.336808042|25.03%
View fam3 AWJ 22 rs2072051
dbSNP Clinvar
29755888 606.12 T C PASS 0/1 286 SYNONYMOUS_CODING LOW None 0.66893 0.66890 0.35760 None None None None None None AP1B1|0.336808042|25.03%
View fam3 AWJ 22 rs2857465
dbSNP Clinvar
29727886 859.5 T C PASS 1/1 44 NON_SYNONYMOUS_CODING MODERATE None 0.99980 0.99980 0.00008 1.00 0.00 None None None None None None AP1B1|0.336808042|25.03%

APOBEC3B

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fam3 AWJ 22 rs5995649
dbSNP Clinvar
39382079 1979.1 C A PASS 1/1 210 NON_SYNONYMOUS_CODING MODERATE None 0.94968 0.94970 0.04888 1.00 0.00 None None None None None None APOBEC3B|0.000325736|99.32%

APOBEC3F

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 fam3 AWJ 22 rs2076101
dbSNP Clinvar
39445554 714.54 G A PASS 0/1 148 NON_SYNONYMOUS_CODING MODERATE None 0.49541 0.49540 0.43426 0.16 0.90 None None None None None None APOBEC3F|0.000410636|98.87%,APOBEC3G|0.000537592|98.25%
View fam3 AWJ 22 rs2020390
dbSNP Clinvar
39441096 2041.08 G T PASS 1/1 222 NON_SYNONYMOUS_CODING MODERATE None 0.53375 0.53370 0.15 1.00 None None None None None None APOBEC3F|0.000410636|98.87%,APOBEC3G|0.000537592|98.25%
View fam3 AWJ 22 rs4821862
dbSNP Clinvar
39441203 1087.72 C T PASS 1/1 115 SYNONYMOUS_CODING LOW None 0.59345 0.59350 0.46363 None None None None None None APOBEC3F|0.000410636|98.87%,APOBEC3G|0.000537592|98.25%

APOBEC3G

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fam3 AWJ 22 rs17496046
dbSNP Clinvar
39482371 80.9 C G PASS 0/1 59 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.05731 0.05731 0.09296 0.05 1.00 None None None None None None APOBEC3G|0.000537592|98.25%

APOBEC3H

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fam3 AWJ 22 rs139298
dbSNP Clinvar
39497452 850.27 A G PASS 1/1 94 NON_SYNONYMOUS_CODING MODERATE None 0.52975 0.52980 0.42496 1.00 0.01 None None None None None None APOBEC3H|0.000715686|97.18%
View fam3 AWJ 22 rs139297
dbSNP Clinvar
39497404 1010.5 G C PASS 1/1 108 NON_SYNONYMOUS_CODING MODERATE None 0.52476 0.52480 0.42050 1.00 0.00 None None None None None None APOBEC3H|0.000715686|97.18%
View fam3 AWJ 22 rs139294
dbSNP Clinvar
39496412 1360.42 G C PASS 1/1 143 SYNONYMOUS_CODING LOW None 0.51478 0.51480 0.43995 None None None None None None APOBEC3H|0.000715686|97.18%
View fam3 AWJ 22 rs139293
dbSNP Clinvar
39496336 318.21 G T PASS 0/1 143 NON_SYNONYMOUS_CODING MODERATE None 0.20168 0.20170 0.20898 0.02 0.49 None None None None None None APOBEC3H|0.000715686|97.18%
View fam3 AWJ 22 rs139300
dbSNP Clinvar
39497509 869.65 A G PASS 1/1 69 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 1.00000 1.00000 1.00 0.00 None None None None None None APOBEC3H|0.000715686|97.18%
View fam3 AWJ 22 rs140936762,rs201177427,rs139292
dbSNP Clinvar
39496322 298.68 TAAC T PASS 0/1 142 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.31749 0.31750 0.32481 None None None None None None APOBEC3H|0.000715686|97.18%
View fam3 AWJ 22 rs139299
dbSNP Clinvar
39497454 853.72 G C PASS 1/1 95 NON_SYNONYMOUS_CODING MODERATE None 0.52975 0.52980 0.42365 0.04 0.40 None None None None None None APOBEC3H|0.000715686|97.18%

APOL1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fam3 AWJ 22 rs136175
dbSNP Clinvar
36661566 3844.37 G A PASS 1/1 426 NON_SYNONYMOUS_CODING MODERATE None 0.86422 0.86420 0.15308 0.04 0.00 None None None None None None APOL1|0.000329557|99.31%
View fam3 AWJ 22 rs2239785
dbSNP Clinvar
36661330 999.65 G A PASS 1/1 107 NON_SYNONYMOUS_CODING MODERATE None 0.67812 0.67810 0.34715 0.16 0.89 None None None None None None APOL1|0.000329557|99.31%
View fam3 AWJ 22 rs136176
dbSNP Clinvar
36661646 2227.07 G A PASS 1/1 233 NON_SYNONYMOUS_CODING MODERATE None 0.86262 0.86260 0.15101 1.00 0.00 None None None None None None APOL1|0.000329557|99.31%
View fam3 AWJ 22 rs136174
dbSNP Clinvar
36661536 2101.75 C A PASS 1/1 193 SYNONYMOUS_CODING LOW None 0.86422 0.86420 0.15324 None None None None None None APOL1|0.000329557|99.31%
View fam3 AWJ 22 rs136177
dbSNP Clinvar
36661842 2541.83 G A PASS 1/1 241 SYNONYMOUS_CODING LOW None 0.85324 0.85320 0.16023 None None None None None None APOL1|0.000329557|99.31%

APOL2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fam3 AWJ 22 rs132760
dbSNP Clinvar
36623731 872.5 T C PASS 1/1 72 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 0.66 0.00 None None None None None None APOL2|0.000262519|99.56%

APOL3

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 fam3 AWJ 22 rs132653
dbSNP Clinvar
36556823 1229.52 G T PASS 1/1 127 NON_SYNONYMOUS_CODING MODERATE None 0.78474 0.78470 0.28410 0.31 None None None None None None APOL3|0.000202491|99.75%
View fam3 AWJ 22 rs61731692
dbSNP Clinvar
36537725 226.87 G A PASS 0/1 112 SYNONYMOUS_CODING LOW None 0.09425 0.09425 0.13140 None None None None None None APOL3|0.000202491|99.75%
View fam3 AWJ 22 rs132618
dbSNP Clinvar
36537500 365.47 A T PASS 0/1 166 SYNONYMOUS_CODING LOW None 0.36262 0.36260 0.36506 None None None None None None APOL3|0.000202491|99.75%

APOL4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fam3 AWJ 22 rs5845253,rs3075364
dbSNP Clinvar
36587845 1069.39 A ACT PASS 1/1 136 None None None 0.67572 0.67570 0.40732 None None None None None None APOL4|0.000586223|97.99%
View fam3 AWJ 22 rs6000174
dbSNP Clinvar
36587279 1416.59 A G PASS 1/1 168 SYNONYMOUS_CODING LOW None 0.64697 0.64700 0.44084 None None None None None None APOL4|0.000586223|97.99%
View fam3 AWJ 22 rs2227167
dbSNP Clinvar
36587486 1547.71 A G PASS 1/1 169 SYNONYMOUS_CODING LOW None 0.64736 0.64740 0.44397 None None None None None None APOL4|0.000586223|97.99%
View fam3 AWJ 22 rs6000172
dbSNP Clinvar
36587202 1871.11 G A PASS 1/1 194 NON_SYNONYMOUS_CODING MODERATE None 0.64697 0.64700 0.44227 0.00 0.02 None None None None None None APOL4|0.000586223|97.99%
View fam3 AWJ 22 rs2227168
dbSNP Clinvar
36587511 1642.49 C T PASS 1/1 173 NON_SYNONYMOUS_CODING MODERATE None 0.65316 0.65320 0.44114 0.58 0.00 None None None None None None APOL4|0.000586223|97.99%
View fam3 AWJ 22 rs6000181
dbSNP Clinvar
36598081 158.87 A T PASS 0/1 94 START_LOST HIGH None 0.07668 0.07668 0.08435 0.00 0.40 None None None None None None APOL4|0.000586223|97.99%
View fam3 AWJ 22 rs132736
dbSNP Clinvar
36598058 883.58 T C PASS 1/1 93 NON_SYNONYMOUS_CODING MODERATE None 0.62121 0.62120 0.47593 1.00 0.00 None None None None None None APOL4|0.000586223|97.99%
View fam3 AWJ 22 rs6000173
dbSNP Clinvar
36587223 1629.36 G T PASS 1/1 161 NON_SYNONYMOUS_CODING MODERATE None 0.64717 0.64720 0.44378 0.00 0.66 None None None None None None APOL4|0.000586223|97.99%
View fam3 AWJ 22 rs80587
dbSNP Clinvar
36598049 867.37 C G PASS 1/1 94 NON_SYNONYMOUS_CODING MODERATE None 0.62101 0.62100 0.47578 1.00 0.00 None None None None None None APOL4|0.000586223|97.99%
View fam3 AWJ 22 rs2007468
dbSNP Clinvar
36591380 1133.28 A G PASS 1/1 118 SYNONYMOUS_CODING LOW None 0.70068 0.70070 0.38713 None None None None None None APOL4|0.000586223|97.99%
View fam3 AWJ 22 rs2227169
dbSNP Clinvar
36587952 1272.04 C T PASS 1/1 140 SYNONYMOUS_CODING LOW None 0.64257 0.64260 0.44647 None None None None None None APOL4|0.000586223|97.99%

APOL5

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fam3 AWJ 22 rs17723764
dbSNP Clinvar
36122517 531.35 T C PASS 1/1 56 SYNONYMOUS_CODING LOW None 0.21566 0.21570 0.27341 None None None None None None APOL5|0.000570206|98.07%
View fam3 AWJ 22 rs2076672
dbSNP Clinvar
36123083 1674.32 C T PASS 1/1 175 NON_SYNONYMOUS_CODING MODERATE None 0.14856 0.14860 0.21429 0.09 0.89 None None None None None None APOL5|0.000570206|98.07%

ARFGAP3

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 fam3 AWJ 22 rs9607957
dbSNP Clinvar
43218397 138.33 T C PASS 0/1 22 NON_SYNONYMOUS_CODING MODERATE None 0.01737 0.01737 0.03137 1.00 0.00 None None None None None None ARFGAP3|0.023747491|72.32%
View fam3 AWJ 22 rs1128013
dbSNP Clinvar
43195147 1422.05 A G PASS 0/1 189 SYNONYMOUS_CODING LOW None 0.37740 0.37740 0.49377 None None None None None None ARFGAP3|0.023747491|72.32%
View fam3 AWJ 22 rs1018448
dbSNP Clinvar
43206950 1373.85 A C PASS 0/1 124 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.70188 0.70190 0.34669 0.79 0.00 None None None None None None ARFGAP3|0.023747491|72.32%
View fam3 AWJ 22 rs11913246
dbSNP Clinvar
43193603 401.86 G A PASS 0/1 44 SYNONYMOUS_CODING LOW None 0.02037 0.02037 0.03406 None None None None None None ARFGAP3|0.023747491|72.32%

ARSA

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 fam3 AWJ 22 rs743616
dbSNP Clinvar
51064039 1085.6 G C PASS 1/1 113 NON_SYNONYMOUS_CODING MODERATE None 0.40555 0.40560 0.48408 0.42 0.00 None None None None None None ARSA|0.046995067|63.58%

ASCC2

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 fam3 AWJ 22 rs28265
dbSNP Clinvar
30200761 552.78 C G PASS 0/1 198 NON_SYNONYMOUS_CODING MODERATE None 0.04473 0.04473 0.08896 0.14 0.03 None None None None None None ASCC2|0.130819121|45.77%
View fam3 AWJ 22 rs36571
dbSNP Clinvar
30200713 618.37 G A PASS 0/1 200 NON_SYNONYMOUS_CODING MODERATE None 0.02656 0.02656 0.06935 0.50 0.00 None None None None None None ASCC2|0.130819121|45.77%
View fam3 AWJ 22 rs11549795
dbSNP Clinvar
30221120 496.76 C T PASS 0/1 223 NON_SYNONYMOUS_CODING MODERATE None 0.04133 0.04133 0.08650 0.17 0.08 None None None None None None ASCC2|0.130819121|45.77%

ASPHD2

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 fam3 AWJ 22 rs11705277
dbSNP Clinvar
26830316 219.52 G A PASS 0/1 108 SYNONYMOUS_CODING LOW None 0.06210 0.06210 0.13463 None None None None None None ASPHD2|0.0628067|59.13%
View fam3 AWJ 22 rs3747128
dbSNP Clinvar
26829914 396.85 T C PASS 0/1 173 SYNONYMOUS_CODING LOW None 0.06470 0.06470 0.13463 None None None None None None ASPHD2|0.0628067|59.13%

ATF4

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 fam3 AWJ 22 rs4894
dbSNP Clinvar
39917515 1057.38 A C PASS 1/1 106 NON_SYNONYMOUS_CODING MODERATE None 0.27376 0.27380 0.30225 0.25 0.00 None None None None None None ATF4|0.396217257|21.01%

ATP5L2

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 fam3 AWJ 22 rs6519327
dbSNP Clinvar
43036245 842.8 G A PASS 0/1 143 SYNONYMOUS_CODING LOW None 0.27276 0.27280 0.13820 None None None None None None CYB5R3|0.035531313|67.3%,ATP5L2|0.004011842|87.02%

BAIAP2L2

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 fam3 AWJ 22 rs4820313
dbSNP Clinvar
38506509 747.4 A G PASS 1/1 80 SYNONYMOUS_CODING LOW None 1.00000 1.00000 None None None None None None BAIAP2L2|0.045525826|64.05%

BCL2L13

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 fam3 AWJ 22 rs9306198
dbSNP Clinvar
18209920 689.98 C T PASS 1/1 73 NON_SYNONYMOUS_CODING MODERATE None 0.05132 0.05132 0.09426 0.10 0.01 None None None None None None BCL2L13|0.039355581|65.99%

BCR

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 fam3 AWJ 22 rs140504
dbSNP Clinvar
23627369 1067.2 A G PASS 1/1 122 NON_SYNONYMOUS_CODING MODERATE None 0.79373 0.79370 0.12264 1.00 0.00 None None None None None None BCR|0.805888971|5.65%
View fam3 AWJ 22 rs5751602
dbSNP Clinvar
23523630 614.35 C A PASS 1/1 67 SYNONYMOUS_CODING LOW None 0.29153 0.29150 0.25578 None None None None None None BCR|0.805888971|5.65%

BPIFC

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 fam3 AWJ 22 rs11702903
dbSNP Clinvar
32831721 154.31 C T PASS 0/1 67 SYNONYMOUS_CODING LOW None 0.00339 0.00340 0.00400 None None None None None None BPIFC|0.039473347|65.93%

C1QTNF6

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 fam3 AWJ 22 rs229519
dbSNP Clinvar
37578579 1982.29 C T PASS 0/1 152 SYNONYMOUS_CODING LOW None 0.46466 0.46470 0.36852 None None None None None None C1QTNF6|0.040924441|65.44%
View fam3 AWJ 22 rs229527
dbSNP Clinvar
37581485 1228.09 C A PASS 0/1 113 NON_SYNONYMOUS_CODING MODERATE None 0.45008 0.45010 0.39636 0.12 0.77 None None None None None None C1QTNF6|0.040924441|65.44%

C22orf23

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 fam3 AWJ 22 rs139859
dbSNP Clinvar
38341134 545.56 T C PASS 0/1 85 SYNONYMOUS_CODING LOW None 0.78135 0.78130 0.25258 None None None None None None C22orf23|0.032233114|68.5%

C22orf31

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 fam3 AWJ 22 rs9625679
dbSNP Clinvar
29456699 472.24 A G PASS 0/1 225 NON_SYNONYMOUS_CODING MODERATE None 0.13738 0.13740 0.08542 0.07 0.85 None None None None None None C22orf31|0.139645339|44.46%
View fam3 AWJ 22 rs6005977
dbSNP Clinvar
29456733 2204.56 T C PASS 1/1 229 SYNONYMOUS_CODING LOW None 0.48383 0.48380 0.39643 None None None None None None C22orf31|0.139645339|44.46%

C22orf46

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 fam3 AWJ 22 rs739134
dbSNP Clinvar
42089623 3755.7 T C PASS 1/1 398 NON_SYNONYMOUS_CODING MODERATE None 0.79573 0.79570 0.16623 0.10 0.93 None None None None None None C22orf46|0.003869223|87.2%

CABIN1

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 fam3 AWJ 22 rs762273
dbSNP Clinvar
24459438 1299.3 T C PASS 1/1 114 SYNONYMOUS_CODING LOW None 0.93231 0.93230 0.04475 None None None None None None CABIN1|0.222656185|34.11%

CACNA1I

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 fam3 AWJ 22 rs136852
dbSNP Clinvar
40057273 1037.05 T C PASS 1/1 108 SYNONYMOUS_CODING LOW None 0.73682 0.73680 0.39199 None None None None None None CACNA1I|0.07260748|56.88%
View fam3 AWJ 22 rs5757761
dbSNP Clinvar
40054948 671.59 T C PASS 1/1 72 SYNONYMOUS_CODING LOW None 0.74840 0.74840 0.37357 None None None None None None CACNA1I|0.07260748|56.88%
View fam3 AWJ 22 rs136853
dbSNP Clinvar
40058186 1041.84 A G PASS 1/1 106 NON_SYNONYMOUS_CODING MODERATE None 0.73682 0.73680 0.35893 0.52 0.00 None None None None None None CACNA1I|0.07260748|56.88%
View fam3 AWJ 22 rs2294369
dbSNP Clinvar
40075400 244.31 G A PASS 1/1 28 NON_SYNONYMOUS_CODING MODERATE None 0.10743 0.10740 0.30 0.96 None None None None None None CACNA1I|0.07260748|56.88%

CCDC157

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 fam3 AWJ 22 rs740223
dbSNP Clinvar
30762140 431.54 G A PASS 0/1 231 NON_SYNONYMOUS_CODING MODERATE None 0.15915 0.15910 0.22074 0.00 0.99 None None None None None None CCDC157|0.031379719|68.85%

CCT8L2

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 fam3 AWJ 22 rs5747988
dbSNP Clinvar
17073066 1267.37 A G PASS 1/1 132 SYNONYMOUS_CODING LOW None 0.86921 0.86920 0.06297 None None None None None None None
View fam3 AWJ 22 rs2236639
dbSNP Clinvar
17072483 579.52 A G PASS 1/1 64 NON_SYNONYMOUS_CODING MODERATE None 0.87041 0.87040 0.06438 1.00 0.00 None None None None None None None

CDC42EP1

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 fam3 AWJ 22 rs2281098
dbSNP Clinvar
37964299 61.4 C G PASS 0/1 19 SYNONYMOUS_CODING LOW None 0.45927 0.45930 0.49362 None None None None None None CDC42EP1|0.088159393|53.62%

CECR1

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 fam3 AWJ 22 rs2231495
dbSNP Clinvar
17669306 392.31 T C PASS 0/1 146 NON_SYNONYMOUS_CODING MODERATE None 0.36462 0.36460 0.40558 0.05 0.00 None None None None None None CECR1|0.005555604|85.15%
View fam3 AWJ 22 rs362129
dbSNP Clinvar
17690409 1106.43 G A PASS 0/1 164 SYNONYMOUS_CODING LOW None 0.31130 0.31130 0.44956 None None None None None None CECR1|0.005555604|85.15%

CECR2

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 fam3 AWJ 22 rs5747211
dbSNP Clinvar
17990852 299.35 G A PASS 0/1 152 NON_SYNONYMOUS_CODING MODERATE None 0.20387 0.20390 0.11691 0.02 0.01 None None None None None None CECR2|0.038569705|66.27%

CECR5

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 fam3 AWJ 22 rs1034859
dbSNP Clinvar
17630486 500.23 C A PASS 0/1 234 SYNONYMOUS_CODING LOW None 0.53435 0.53430 0.48370 None None None None None None CECR5|0.017841954|75.38%

CELSR1

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 fam3 AWJ 22 rs11704506
dbSNP Clinvar
46805772 158.92 C T PASS 1/1 17 NON_SYNONYMOUS_CODING MODERATE None 0.00958 0.00959 0.02568 0.26 0.01 None None None None None None CELSR1|0.033878373|67.81%
View fam3 AWJ 22 rs8141744
dbSNP Clinvar
46930107 1512.98 C T PASS 1/1 158 SYNONYMOUS_CODING LOW None 0.17612 0.17610 0.24262 None None None None None None CELSR1|0.033878373|67.81%
View fam3 AWJ 22 rs1009155
dbSNP Clinvar
46931838 279.43 G A PASS 1/1 10 SYNONYMOUS_CODING LOW None 0.88658 0.88660 0.13939 None None None None None None CELSR1|0.033878373|67.81%
View fam3 AWJ 22 rs1009154
dbSNP Clinvar
46931793 580.87 G C PASS 1/1 30 SYNONYMOUS_CODING LOW None 0.93990 0.93990 0.08032 None None None None None None CELSR1|0.033878373|67.81%
View fam3 AWJ 22 rs28613988
dbSNP Clinvar
46930794 2762.33 G A PASS 1/1 291 SYNONYMOUS_CODING LOW None 0.00439 0.00439 0.00677 None None None None None None CELSR1|0.033878373|67.81%
View fam3 AWJ 22 rs4823561
dbSNP Clinvar
46929692 3409.6 A G PASS 1/1 344 NON_SYNONYMOUS_CODING MODERATE None 0.95288 0.95290 0.06620 1.00 0.00 None None None None None None CELSR1|0.033878373|67.81%
View fam3 AWJ 22 rs4823850
dbSNP Clinvar
46931077 1217.21 G C PASS 1/1 127 NON_SYNONYMOUS_CODING MODERATE None 0.88898 0.88900 0.13327 0.03 0.06 None None None None None None CELSR1|0.033878373|67.81%

CERK

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 fam3 AWJ 22 rs36211083
dbSNP Clinvar
47087670 2135.97 G A PASS 1/1 226 SYNONYMOUS_CODING LOW None 0.10024 0.10020 0.12164 None None None None None None CERK|0.015511577|76.79%

CLDN5

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 fam3 AWJ 22 rs885985
dbSNP Clinvar
19511925 1346.43 G A PASS 1/1 120 STOP_GAINED HIGH None 0.49681 0.49680 None None None None None None CLDN5|0.101200006|50.93%

CLTCL1

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 fam3 AWJ 22 rs11386977
dbSNP Clinvar
19189003 1113.34 A AC PASS 1/1 107 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 0.99980 0.99980 0.00051 None None None None None None CLTCL1|0.022666116|72.86%
View fam3 AWJ 22 rs34869740
dbSNP Clinvar
19263266 1020.0 C A PASS 1/1 109 NON_SYNONYMOUS_CODING MODERATE None 0.00899 0.00899 0.00597 0.03 0.56 None None None None None None CLTCL1|0.022666116|72.86%
View fam3 AWJ 22 rs1061325
dbSNP Clinvar
19184095 1817.82 T C PASS 1/1 190 NON_SYNONYMOUS_CODING MODERATE None 0.40355 0.40360 0.41905 0.08 1.00 None None None None None None CLTCL1|0.022666116|72.86%
View fam3 AWJ 22 rs698423
dbSNP Clinvar
19197896 1584.71 T C PASS 1/1 170 SYNONYMOUS_CODING LOW None 0.84804 0.84800 0.26837 None None None None None None CLTCL1|0.022666116|72.86%

CPT1B

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 fam3 AWJ 22 rs470117
dbSNP Clinvar
51009953 1639.72 C T PASS 1/1 170 NON_SYNONYMOUS_CODING MODERATE None 0.33486 0.33490 0.35553 0.13 0.02 None None None None None None CPT1B|0.130470073|45.82%

CRELD2

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 fam3 AWJ 22 rs11545763
dbSNP Clinvar
50319170 60.84 A G PASS 0/1 50 NON_SYNONYMOUS_CODING MODERATE None 0.06749 0.06749 0.07689 0.00 0.96 None None None None None None CRELD2|0.006398743|84.19%
View fam3 AWJ 22 rs11545762
dbSNP Clinvar
50319079 100.71 T G PASS 0/1 56 NON_SYNONYMOUS_CODING MODERATE None 0.06749 0.06749 0.07097 0.28 0.14 None None None None None None CRELD2|0.006398743|84.19%
View fam3 AWJ 22 rs12160965
dbSNP Clinvar
50315973 247.23 G C PASS 0/1 155 SYNONYMOUS_CODING LOW None 0.24940 0.24940 0.15945 None None None None None None CRELD2|0.006398743|84.19%