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+ Genes 211

Genes:
A4GALT, AC006547.14, ACO2, ADORA2A, AIFM3, AP1B1, APOBEC3B, APOBEC3F, APOBEC3G, APOBEC3H, APOL1, APOL2, APOL3, APOL4, APOL5, APOL6, ARFGAP3, ARHGAP8, ARSA, ARVCF, ASPHD2, ATF4, BAIAP2L2, BCL2L13, BCR, BPIFC, C1QTNF6, C22orf15, C22orf26, C22orf31, C22orf42, C22orf46, CABIN1, CACNA1I, CBX7, CBY1, CCDC116, CCDC157, CCT8L2, CECR1, CECR2, CECR5, CELSR1, CLDN5, CLTCL1, COMT, CPT1B, CRYBA4, CRYBB2, CSF2RB, CYP2D6, CYTH4, DENND6B, DEPDC5, DERL3, EFCAB6, EIF3L, EIF4ENIF1, ELFN2, EP300, FAM109B, FAM118A, FAM83F, FBLN1, FOXRED2, GAB4, GAL3ST1, GAS2L1, GCAT, GGT5, GNAZ, GNB1L, GRAMD4, GTSE1, HDAC10, HMGXB4, HPS4, IL17RA, IL17REL, IL2RB, ISX, KCNJ4, KCTD17, KDELR3, KIAA1671, KLHDC7B, KLHL22, KREMEN1, L3MBTL2, LIF, LIMK2, LMF2, LRP5L, LZTR1, MAPK1, MAPK11, MAPK12, MAPK8IP2, MB, MCAT, MCHR1, MEI1, MFNG, MMP11, MORC2, MOV10L1, MPPED1, MTFP1, MYH9, MYO18B, NAGA, NCAPH2, NCF4, NEFH, NF2, NPTXR, OR11H1, OSBP2, P2RX6, PACSIN2, PARVB, PARVG, PDXP, PHF21B, PI4KA, PIK3IP1, PIM3, PIWIL3, PLA2G3, PLXNB2, PNPLA3, PNPLA5, PPIL2, PPM1F, PPP6R2, PRAME, PRODH, PRR14L, PRR5, RAB36, RANGAP1, RFPL1, RFPL2, RFPL3, RGL4, RHBDD3, RIBC2, RNF215, RPL3, RTCB, RTDR1, SAMM50, SCO2, SCUBE1, SDF2L1, SEC14L3, SEC14L6, SF3A1, SFI1, SGSM1, SH3BP1, SHANK3, SLC16A8, SLC2A11, SLC35E4, SLC5A4, SLC7A4, SMARCB1, SMC1B, SMTN, SNAP29, SNRPD3, SPECC1L, SREBF2, SRRD, SUN2, SYNGR1, TBC1D10A, TBX1, TCN2, TEX33, TFIP11, THAP7, TIMP3, TMPRSS6, TOB2, TOM1, TOP3B, TPST2, TRABD, TRIOBP, TRMU, TSPO, TTC28, TTC38, TTLL1, TTLL12, TUBGCP6, TXNRD2, TYMP, UPB1, UPK3A, USP18, WBP2NL, XBP1, XKR3, XRCC6, YDJC, ZNF280A, ZNF280B, ZNF74,

+ Genes associated with diseases 46

Genes at Omim

A4GALT, ACO2, APOL1, APOL2, APOL4, ARSA, BCR, COMT, CRYBA4, CRYBB2, CSF2RB, CYP2D6, DEPDC5, EP300, FBLN1, HPS4, IL17RA, KCTD17, KREMEN1, LZTR1, MORC2, MYH9, MYO18B, NAGA, NCF4, NEFH, NF2, PI4KA, PRODH, SCO2, SHANK3, SMARCB1, SNAP29, SPECC1L, TBX1, TCN2, TIMP3, TMPRSS6, TRIOBP, TRMU, TUBGCP6, TXNRD2, TYMP, UPB1, 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)
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)
COMT {Panic disorder, susceptibility to}, 167870 (3)
{Schizophrenia, susceptibility to}, 181500 (3)
CRYBA4 Cataract 23, 610425 (3)
CRYBB2 Cataract 3, multiple types, 601547 (3)
CSF2RB Surfactant metabolism dysfunction, pulmonary, 5, 614370 (3)
CYP2D6 {Codeine sensitivity}, 608902 (3)
{Debrisoquine sensitivity}, 608902 (3)
DEPDC5 Epilepsy, familial focal, with variable foci 1, 604364 (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)
KREMEN1 Ectodermal dysplasia 13, hair/tooth type, 617392 (3)
LZTR1 {Schwannomatosis-2, susceptibility to}, 615670 (3)
Noonan syndrome 10, 616564 (3)
Noonan syndrome 2, 605275 (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)
NF2 Meningioma, NF2-related, somatic, 607174 (3)
Neurofibromatosis, type 2, 101000 (3)
Schwannomatosis, somatic, 162091 (3)
PI4KA Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, 616531 (3)
PRODH Hyperprolinemia, type I, 239500 (3)
{Schizophrenia, susceptibility to, 4}, 600850 (3)
SCO2 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377 (3)
Myopia 6, 608908 (3)
SHANK3 {Schizophrenia 15}, 613950 (3)
Phelan-McDermid syndrome, 606232 (3)
SMARCB1 Coffin-Siris syndrome 3, 614608 (3)
{Rhabdoid tumor predisposition syndrome 1}, 609322 (3)
{Schwannomatosis-1, susceptibility to}, 162091 (3)
Rhabdoid tumors, somatic, 609322 (3)
SNAP29 Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, 609528 (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)
TRMU Liver failure, transient infantile, 613070 (3)
{Deafness, mitochondrial, modifier of}, 580000 (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)
UPB1 Beta-ureidopropionase deficiency, 613161 (3)
USP18 Pseudo-TORCH syndrome 2, 617397 (3)
XBP1 {Major affective disorder-7, susceptibility to}, 612371 (3)

Genes at Clinical Genomics Database

A4GALT, ACO2, ARSA, BCR, CECR1, COMT, CRYBA4, CRYBB2, CSF2RB, CYP2D6, DEPDC5, EP300, FBLN1, HPS4, IL17RA, KCTD17, LZTR1, MORC2, MYH9, MYO18B, NAGA, NCF4, NEFH, NF2, PI4KA, PRODH, SCO2, SHANK3, SMARCB1, SNAP29, SPECC1L, TBX1, TCN2, TIMP3, TMPRSS6, TRIOBP, TRMU, TUBGCP6, TYMP, UPB1, UPK3A,
A4GALT Blood group, P system
ACO2 Infantile cerebellar-retinal degeneration
Optic atrophy 9
ARSA Metachromatic leukodystrophy
BCR CML treatment, response to
CECR1 Polyarteritis nodosa, childhood-onset (ADA2 deficiency)
Sneddon syndrome
COMT Medication response, association with
CRYBA4 Cataract 23
CRYBB2 Cataract, sutural, with punctate and cerulean opacities
Cataract, Coppock-like
Cataract, congenital, cerulean type, 2
CSF2RB Surfactant metabolism dysfunction, pulmonary, 5
CYP2D6 Drug metabolism, CYP2CD6-related
DEPDC5 Epilepsy, familial focal, with variable foci
EP300 Rubinstein-Taybi syndrome 2
FBLN1 Synpolydactyly 2
HPS4 Hermansky-Pudlak syndrome 4
IL17RA Candiasis, familial, 5
KCTD17 Dystonia 26, myoclonic
LZTR1 Schwannomatosis 2
Noonan syndrome 10
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
NF2 Neurofibromatosis type II
Schwannomatosis 2
PI4KA Perisylvian polymicrogyria, cerebellar hypoplasia, and arthrogryposis
PRODH Hyperprolinemia, type I
SCO2 Myopia 6
Leigh syndrome
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1
Hypertrophic cardiomyopathy
SHANK3 Phelan-McDermid syndrome
Schizophrenia
SMARCB1 Schwannomatosis
Rhabdoid tumor predisposition syndrome
SNAP29 Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (CEDNIK syndrome)
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
TRMU Liver failure, infantile, transient
Reversible infantile respiratory chain deficiency
TUBGCP6 Microcephaly and chorioretinopathy, autosomal recessive 1
TYMP Mitochondrial DNA depletion syndrome 1 (MNGIE type)
UPB1 Beta-ureidopropionase deficiency
UPK3A Renal/urogenital adysplasia

Genes at HGMD

Summary

Number of Variants: 839
Number of Genes: 211

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 allfamilies BIR 22 rs9623659
dbSNP Clinvar 		43088971 204.314 C T PASS 0/1 74 SYNONYMOUS_CODING LOW None 0.34904 0.34900 0.40420 None None None None None None A4GALT|0.02220674|73.08%
View allfamilies BIR 22 rs11541159
dbSNP Clinvar 		43089849 134.383 T C PASS 0/1 56 NON_SYNONYMOUS_CODING MODERATE None 0.35064 0.35060 0.40440 0.26 0.00 None None None None None None A4GALT|0.02220674|73.08%
View allfamilies BIR 22 rs6002904
dbSNP Clinvar 		43089055 1541.87 G C PASS 0/1 234 SYNONYMOUS_CODING LOW None 0.69529 0.69530 0.34674 None None None None None None A4GALT|0.02220674|73.08%

AC006547.14
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 allfamilies BIR 22 rs175181
dbSNP Clinvar 		20136263 372.263 G A PASS 0/1 151 SYNONYMOUS_CODING LOW None 0.19369 0.19370 None None None None None None None

ACO2
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 allfamilies BIR 22 rs1799932
dbSNP Clinvar 		41911525 581.78 C T PASS 0/1 32 SYNONYMOUS_CODING LOW None 0.27037 0.27040 0.38375 None None None None None None ACO2|0.657906877|9.8%

ADORA2A
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 allfamilies BIR 22 rs5751876
dbSNP Clinvar 		24837301 1940.77 T C PASS 0/1 209 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
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies BIR 22 rs178269
dbSNP Clinvar 		21331043 2116.73 A T PASS 1/1 205 SYNONYMOUS_CODING LOW None 1.00000 1.00000 None None None None None None AIFM3|0.183569407|38.59%
View allfamilies BIR 22 rs7285694
dbSNP Clinvar 		21330787 1550.96 C T PASS 0/1 213 SYNONYMOUS_CODING LOW None 0.19129 0.19130 0.27172 None None None None None None AIFM3|0.183569407|38.59%

AP1B1
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 allfamilies BIR 22 rs2072051
dbSNP Clinvar 		29755888 2583.22 T C PASS 0/1 296 SYNONYMOUS_CODING LOW None 0.66893 0.66890 0.35760 None None None None None None AP1B1|0.336808042|25.03%
View allfamilies BIR 22 rs2857465
dbSNP Clinvar 		29727886 859.5 T C PASS 1/1 87 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%
View allfamilies BIR 22 rs174765
dbSNP Clinvar 		29727866 342.774 C T PASS 0/1 80 SYNONYMOUS_CODING LOW None 0.53195 0.53190 0.48370 None None None None None None AP1B1|0.336808042|25.03%

APOBEC3B
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 allfamilies BIR 22 rs5995649
dbSNP Clinvar 		39382079 1979.1 C A PASS 1/1 139 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%
View allfamilies BIR 22 rs1065184
dbSNP Clinvar 		39387558 616.65 C T PASS 1/1 33 SYNONYMOUS_CODING LOW None 0.48365 None None None None None None APOBEC3B|0.000325736|99.32%
View allfamilies BIR 22 rs2076111
dbSNP Clinvar 		39381999 1545.8 T C PASS 1/1 119 SYNONYMOUS_CODING LOW None None None None None None None APOBEC3B|0.000325736|99.32%
View allfamilies BIR 22 rs2076109
dbSNP Clinvar 		39381826 1598.04 A G PASS 1/1 108 NON_SYNONYMOUS_CODING MODERATE None 0.64117 0.64120 0.39427 0.77 0.01 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 allfamilies BIR 22 rs2076101
dbSNP Clinvar 		39445554 987.317 G A PASS 0/1 154 NON_SYNONYMOUS_CODING MODERATE None 0.49541 0.49540 0.43426 0.16 0.81 None None None None None None APOBEC3F|0.000410636|98.87%,APOBEC3G|0.000537592|98.25%
View allfamilies BIR 22 rs2020390
dbSNP Clinvar 		39441096 2041.08 G T PASS 0/1 297 NON_SYNONYMOUS_CODING MODERATE None 0.53375 0.53370 0.15 0.25 None None None None None None APOBEC3F|0.000410636|98.87%,APOBEC3G|0.000537592|98.25%
View allfamilies BIR 22 rs4821862
dbSNP Clinvar 		39441203 1087.72 C T PASS 0/1 172 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
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies BIR 22 rs5757465
dbSNP Clinvar 		39477123 1231.49 T C PASS 0/1 175 SYNONYMOUS_CODING LOW None 0.28455 0.28450 0.31755 None None None None None None APOBEC3G|0.000537592|98.25%

APOBEC3H
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 allfamilies BIR 22 rs139297
dbSNP Clinvar 		39497404 1010.5 G C PASS 0/1 90 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 allfamilies BIR 22 rs139298
dbSNP Clinvar 		39497452 850.27 A G PASS 0/1 88 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 allfamilies BIR 22 rs139294
dbSNP Clinvar 		39496412 1360.42 G C PASS 0/1 233 SYNONYMOUS_CODING LOW None 0.51478 0.51480 0.43995 None None None None None None APOBEC3H|0.000715686|97.18%
View allfamilies BIR 22 rs140936762,rs201177427,rs139292
dbSNP Clinvar 		39496322 494.218 TAAC T PASS 0/1 229 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 allfamilies BIR 22 rs139300
dbSNP Clinvar 		39497509 965.89 A G PASS 1/1 70 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 allfamilies BIR 22 rs139299
dbSNP Clinvar 		39497454 853.72 G C PASS 0/1 84 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
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies BIR 22 rs136175
dbSNP Clinvar 		36661566 3844.37 G A PASS 1/1 487 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 allfamilies BIR 22 rs136177
dbSNP Clinvar 		36661842 3388.9 G A PASS 1/1 282 SYNONYMOUS_CODING LOW None 0.85324 0.85320 0.16023 None None None None None None APOL1|0.000329557|99.31%
View allfamilies BIR 22 rs136176
dbSNP Clinvar 		36661646 2262.45 G A PASS 1/1 244 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 allfamilies BIR 22 rs136174
dbSNP Clinvar 		36661536 2564.71 C A PASS 1/1 244 SYNONYMOUS_CODING LOW None 0.86422 0.86420 0.15324 None None None None None None APOL1|0.000329557|99.31%
View allfamilies BIR 22 rs2239785
dbSNP Clinvar 		36661330 1709.96 G A PASS 1/1 182 NON_SYNONYMOUS_CODING MODERATE None 0.67812 0.67810 0.34715 0.16 0.78 None None None None None None APOL1|0.000329557|99.31%

APOL2
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 allfamilies BIR 22 rs132760
dbSNP Clinvar 		36623731 1158.44 T C PASS 1/1 74 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 allfamilies BIR 22 rs132653
dbSNP Clinvar 		36556823 1658.94 G T PASS 0/1 137 NON_SYNONYMOUS_CODING MODERATE None 0.78474 0.78470 0.28410 0.45 None None None None None None APOL3|0.000202491|99.75%
View allfamilies BIR 22 rs132618
dbSNP Clinvar 		36537500 2211.8 A T PASS 0/1 259 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
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies BIR 22 rs132700
dbSNP Clinvar 		36587704 3527.19 T C PASS 0/1 327 NON_SYNONYMOUS_CODING MODERATE None 0.29812 0.29810 0.31358 0.24 0.00 None None None None None None APOL4|0.000586223|97.99%

APOL5
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 allfamilies BIR 22 rs17723764
dbSNP Clinvar 		36122517 531.35 T C PASS 0/1 101 SYNONYMOUS_CODING LOW None 0.21566 0.21570 0.27341 None None None None None None APOL5|0.000570206|98.07%
View allfamilies BIR 22 rs4821441
dbSNP Clinvar 		36122811 904.205 G A PASS 0/1 159 SYNONYMOUS_CODING LOW None 0.05192 0.05192 0.06174 None None None None None None APOL5|0.000570206|98.07%

APOL6
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 allfamilies BIR 22 rs5999923
dbSNP Clinvar 		36055130 1096.27 T A PASS 0/1 204 NON_SYNONYMOUS_CODING MODERATE None 0.02396 0.02396 0.02868 1.00 0.00 None None None None None None APOL6|0.000141569|99.88%
View allfamilies BIR 22 rs34014315
dbSNP Clinvar 		36055406 1542.3 A C PASS 0/1 161 SYNONYMOUS_CODING LOW None 0.02196 0.02196 0.03383 None None None None None None APOL6|0.000141569|99.88%
View allfamilies BIR 22 rs34527373
dbSNP Clinvar 		36054944 797.425 C T PASS 0/1 149 SYNONYMOUS_CODING LOW None 0.02117 0.02117 0.02337 None None None None None None APOL6|0.000141569|99.88%

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 allfamilies BIR 22 rs1128013
dbSNP Clinvar 		43195147 2690.91 A G PASS 0/1 174 SYNONYMOUS_CODING LOW None 0.37740 0.37740 0.49377 None None None None None None ARFGAP3|0.023747491|72.32%
View allfamilies BIR 22 rs1018448
dbSNP Clinvar 		43206950 1373.85 A C PASS 0/1 118 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 allfamilies BIR 22 rs738535
dbSNP Clinvar 		43203137 1601.57 C T PASS 0/1 273 SYNONYMOUS_CODING LOW None 0.31010 0.31010 0.41727 None None None None None None ARFGAP3|0.023747491|72.32%

ARHGAP8
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 allfamilies BIR 22 rs6007344
dbSNP Clinvar 		45255637 142.217 G C PASS 0/1 44 NON_SYNONYMOUS_CODING MODERATE None 0.26857 0.26860 0.21644 1.00 0.00 None None None None None None PRR5-ARHGAP8|0.014398514|77.56%,ARHGAP8|0.011339423|79.74%
View allfamilies BIR 22 rs2071762
dbSNP Clinvar 		45258324 439.777 C T PASS 0/1 191 NON_SYNONYMOUS_CODING MODERATE None 0.22504 0.22500 0.14178 0.39 0.03 None None None None None None PRR5-ARHGAP8|0.014398514|77.56%,ARHGAP8|0.011339423|79.74%
View allfamilies BIR 22 rs187115817
dbSNP Clinvar 		45182453 362.197 G A PASS 0/1 191 NON_SYNONYMOUS_CODING MODERATE None 0.00060 0.00060 0.02 1.00 None None None None None None PRR5-ARHGAP8|0.014398514|77.56%,ARHGAP8|0.011339423|79.74%
View allfamilies BIR 22 rs9614957
dbSNP Clinvar 		45258333 305.308 C G PASS 0/1 191 NON_SYNONYMOUS_CODING MODERATE None 0.03914 0.03914 0.09388 0.43 0.00 None None None None None None PRR5-ARHGAP8|0.014398514|77.56%,ARHGAP8|0.011339423|79.74%
View allfamilies BIR 22 rs2239813
dbSNP Clinvar 		45198009 266.684 A G PASS 0/1 106 SYNONYMOUS_CODING LOW None 0.63878 0.63880 0.45510 None None None None None None PRR5-ARHGAP8|0.014398514|77.56%,ARHGAP8|0.011339423|79.74%
View allfamilies BIR 22 rs61756769
dbSNP Clinvar 		45255630 142.723 T C PASS 0/1 45 SYNONYMOUS_CODING LOW None 0.12360 0.12360 0.16039 None None None None None None PRR5-ARHGAP8|0.014398514|77.56%,ARHGAP8|0.011339423|79.74%

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 allfamilies BIR 22 rs2071421
dbSNP Clinvar 		51064416 939.322 T C PASS 0/1 318 NON_SYNONYMOUS_CODING MODERATE None 0.22484 0.22480 0.18228 0.28 0.03 None None None None None None ARSA|0.046995067|63.58%
View allfamilies BIR 22 rs743616
dbSNP Clinvar 		51064039 1085.6 G C PASS 0/1 176 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%
View allfamilies BIR 22 rs754484249
dbSNP Clinvar 		51065283 211.939 G A PASS 0/1 152 SYNONYMOUS_CODING LOW None None None None None None None ARSA|0.046995067|63.58%

ARVCF
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 allfamilies BIR 22 rs165815
dbSNP Clinvar 		19959473 1140.49 C T PASS 1/1 77 NON_SYNONYMOUS_CODING MODERATE None 0.61681 0.61680 0.26496 1.00 0.00 None None None None None None ARVCF|0.083030294|54.56%
View allfamilies BIR 22 rs2073747
dbSNP Clinvar 		19969075 1589.98 A G PASS 1/1 108 SYNONYMOUS_CODING LOW None 0.72145 0.72140 0.19203 None None None None None None ARVCF|0.083030294|54.56%

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 allfamilies BIR 22 rs34902186
dbSNP Clinvar 		26830285 483.68 A G PASS 0/1 214 NON_SYNONYMOUS_CODING MODERATE None 0.02636 0.02636 0.06735 0.10 0.02 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 allfamilies BIR 22 rs4894
dbSNP Clinvar 		39917515 1516.72 A C PASS 0/1 99 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%

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 allfamilies BIR 22 rs66500630,rs371997714
dbSNP Clinvar 		38482352 543.52 GT... G PASS 0/1 190 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.14137 0.14140 0.10928 None None None None None None BAIAP2L2|0.045525826|64.05%
View allfamilies BIR 22 . 38483169 29.0411 G GG... PASS 0/1 85 FRAME_SHIFT+STOP_GAINED HIGH None None None None None None None BAIAP2L2|0.045525826|64.05%
View allfamilies BIR 22 rs142739979
dbSNP Clinvar 		38483155 285.69 T TT... PASS 0/1 97 CODON_INSERTION MODERATE None 0.30052 0.30050 0.33270 None None None None None None BAIAP2L2|0.045525826|64.05%
View allfamilies BIR 22 rs4820313
dbSNP Clinvar 		38506509 821.982 A G PASS 1/1 92 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 allfamilies BIR 22 rs4488761
dbSNP Clinvar 		18209613 330.64 A G PASS 0/1 152 SYNONYMOUS_CODING LOW None 0.66594 0.66590 0.44756 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 allfamilies BIR 22 rs140504
dbSNP Clinvar 		23627369 1277.96 A G PASS 0/1 171 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 allfamilies BIR 22 rs5751602
dbSNP Clinvar 		23523630 614.35 C A PASS 0/1 50 SYNONYMOUS_CODING LOW None 0.29153 0.29150 0.25578 None None None None None None BCR|0.805888971|5.65%
View allfamilies BIR 22 rs2227939
dbSNP Clinvar 		23631801 762.539 T C PASS 0/1 316 SYNONYMOUS_CODING LOW None 0.32268 0.32270 0.36883 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 allfamilies BIR 22 rs5998478
dbSNP Clinvar 		32811952 648.85 A G PASS 1/1 41 NON_SYNONYMOUS_CODING MODERATE None 0.62081 0.62080 0.36945 1.00 0.00 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 allfamilies BIR 22 rs229526
dbSNP Clinvar 		37581422 287.806 G C PASS 0/1 118 NON_SYNONYMOUS_CODING MODERATE None 0.18910 0.18910 0.23743 0.07 0.48 None None None None None None C1QTNF6|0.040924441|65.44%
View allfamilies BIR 22 rs229527
dbSNP Clinvar 		37581485 1228.09 C A PASS 0/1 116 NON_SYNONYMOUS_CODING MODERATE None 0.45008 0.45010 0.39636 0.12 0.01 None None None None None None C1QTNF6|0.040924441|65.44%

C22orf15
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 allfamilies BIR 22 rs2298375
dbSNP Clinvar 		24106448 707.846 G A PASS 0/1 367 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.07668 0.07668 0.08673 None None None None None None C22orf15|0.003023452|88.6%

C22orf26
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 allfamilies BIR 22 rs59929908
dbSNP Clinvar 		46447714 345.289 T C PASS 0/1 122 NON_SYNONYMOUS_CODING MODERATE None 0.08846 0.08846 0.09092 0.00 0.61 None None None None None None PRR34|0.005256107|85.48%

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 allfamilies BIR 22 rs6005977
dbSNP Clinvar 		29456733 2711.82 T C PASS 1/1 284 SYNONYMOUS_CODING LOW None 0.48383 0.48380 0.39643 None None None None None None C22orf31|0.139645339|44.46%

C22orf42
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 allfamilies BIR 22 rs5998267
dbSNP Clinvar 		32554985 1059.21 A G PASS 0/1 119 NON_SYNONYMOUS_CODING MODERATE None 0.58247 0.58250 0.42511 0.92 0.00 None None None None None None C22orf42|0.000624238|97.75%

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 allfamilies BIR 22 rs739134
dbSNP Clinvar 		42089623 3817.06 T C PASS 1/1 579 NON_SYNONYMOUS_CODING MODERATE None 0.79573 0.79570 0.16623 0.10 0.01 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 allfamilies BIR 22 rs762273
dbSNP Clinvar 		24459438 1299.3 T C PASS 1/1 130 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 allfamilies BIR 22 rs5757761
dbSNP Clinvar 		40054948 671.59 T C PASS 0/1 75 SYNONYMOUS_CODING LOW None 0.74840 0.74840 0.37357 None None None None None None CACNA1I|0.07260748|56.88%
View allfamilies BIR 22 rs2294369
dbSNP Clinvar 		40075400 244.31 G A PASS 0/1 12 NON_SYNONYMOUS_CODING MODERATE None 0.10743 0.10740 0.30 0.00 None None None None None None CACNA1I|0.07260748|56.88%
View allfamilies BIR 22 rs3747178
dbSNP Clinvar 		39966856 1487.29 C T PASS 0/1 381 SYNONYMOUS_CODING LOW None 0.32887 0.32890 0.23073 None None None None None None CACNA1I|0.07260748|56.88%
View allfamilies BIR 22 rs57732048
dbSNP Clinvar 		40043877 465.819 C A PASS 0/1 185 NON_SYNONYMOUS_CODING MODERATE None 0.00240 0.00240 0.00530 0.29 0.00 None None None None None None CACNA1I|0.07260748|56.88%
View allfamilies BIR 22 rs136853
dbSNP Clinvar 		40058186 1041.84 A G PASS 0/1 97 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%

CBX7
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 allfamilies BIR 22 . 39530666 64.4524 C T PASS 0/1 10 NON_SYNONYMOUS_CODING MODERATE None 0.23 0.00 None None None None None None CBX7|0.203538064|36.28%

CBY1
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 allfamilies BIR 22 rs3747174
dbSNP Clinvar 		39069181 580.958 T C PASS 0/1 126 SYNONYMOUS_CODING LOW None 0.28574 0.28570 0.29164 None None None None None None CBY1|0.161401363|41.36%

CCDC116
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 allfamilies BIR 22 rs371513
dbSNP Clinvar 		21988599 406.691 G A PASS 0/1 134 NON_SYNONYMOUS_CODING MODERATE None 0.12959 0.12960 0.16254 0.41 0.02 None None None None None None CCDC116|0.001199435|94.42%

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 allfamilies BIR 22 rs740223
dbSNP Clinvar 		30762140 584.13 G A PASS 0/1 258 NON_SYNONYMOUS_CODING MODERATE None 0.15915 0.15910 0.22074 0.00 1.00 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 allfamilies BIR 22 rs2236639
dbSNP Clinvar 		17072483 1043.82 A G PASS 1/1 86 NON_SYNONYMOUS_CODING MODERATE None 0.87041 0.87040 0.06438 1.00 0.00 None None None None None None CCT8L2|0.001590608|92.36%
View allfamilies BIR 22 rs5747988
dbSNP Clinvar 		17073066 1470.68 A G PASS 1/1 152 SYNONYMOUS_CODING LOW None 0.86921 0.86920 0.06297 None None None None None None CCT8L2|0.001590608|92.36%

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 allfamilies BIR 22 rs7289170
dbSNP Clinvar 		17662793 365.991 A G PASS 0/1 208 SYNONYMOUS_CODING LOW None 0.19189 0.19190 0.30209 None None None None None None CECR1|0.005555604|85.15%
View allfamilies BIR 22 rs2231495
dbSNP Clinvar 		17669306 475.12 T C PASS 0/1 182 NON_SYNONYMOUS_CODING MODERATE None 0.36462 0.36460 0.40558 0.05 0.02 None None None None None None CECR1|0.005555604|85.15%
View allfamilies BIR 22 rs7289141
dbSNP Clinvar 		17690430 2144.28 C G PASS 1/1 229 SYNONYMOUS_CODING LOW None 0.18311 0.18310 0.10019 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 allfamilies BIR 22 rs1296794
dbSNP Clinvar 		18021604 388.427 C T PASS 0/1 210 NON_SYNONYMOUS_CODING MODERATE None 0.07628 0.07628 0.14179 0.00 0.29 None None None None None None CECR2|0.038569705|66.27%
View allfamilies BIR 22 rs5747211
dbSNP Clinvar 		17990852 456.39 G A PASS 0/1 222 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 allfamilies BIR 22 rs1034859
dbSNP Clinvar 		17630486 655.8 C A PASS 0/1 271 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 allfamilies BIR 22 rs6008794
dbSNP Clinvar 		46787694 649.953 A G PASS 0/1 305 NON_SYNONYMOUS_CODING MODERATE None 0.27496 0.27500 0.31298 1.00 0.00 None None None None None None CELSR1|0.033878373|67.81%
View allfamilies BIR 22 rs1009154
dbSNP Clinvar 		46931793 580.87 G C PASS 1/1 27 SYNONYMOUS_CODING LOW None 0.93990 0.93990 0.08032 None None None None None None CELSR1|0.033878373|67.81%
View allfamilies BIR 22 rs35717986
dbSNP Clinvar 		46805007 148.462 G A PASS 0/1 85 SYNONYMOUS_CODING LOW None 0.11222 0.11220 0.12710 None None None None None None CELSR1|0.033878373|67.81%
View allfamilies BIR 22 rs4823561
dbSNP Clinvar 		46929692 3628.95 A G PASS 1/1 379 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 allfamilies BIR 22 rs6007897
dbSNP Clinvar 		46780521 507.914 T C PASS 0/1 169 NON_SYNONYMOUS_CODING MODERATE None 0.24082 0.24080 0.29779 0.92 0.01 None None None None None None CELSR1|0.033878373|67.81%
View allfamilies BIR 22 rs6008795
dbSNP Clinvar 		46787697 657.822 A G PASS 0/1 313 NON_SYNONYMOUS_CODING MODERATE None 0.19888 0.19890 0.22455 1.00 0.00 None None None None None None CELSR1|0.033878373|67.81%
View allfamilies BIR 22 . 46931818 59.15 CG C PASS 0/1 16 FRAME_SHIFT HIGH None None None None None None None CELSR1|0.033878373|67.81%
View allfamilies BIR 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 allfamilies BIR 22 rs11090875
dbSNP Clinvar 		46785301 219.821 C T PASS 0/1 143 SYNONYMOUS_CODING LOW None 0.07169 0.07169 0.09703 None None None None None None CELSR1|0.033878373|67.81%
View allfamilies BIR 22 rs4044210
dbSNP Clinvar 		46786315 366.556 T C PASS 0/1 209 NON_SYNONYMOUS_CODING MODERATE None 0.27656 0.27660 0.32531 0.41 0.01 None None None None None None CELSR1|0.033878373|67.81%
View allfamilies BIR 22 rs8141744
dbSNP Clinvar 		46930107 2066.81 C T PASS 1/1 213 SYNONYMOUS_CODING LOW None 0.17612 0.17610 0.24262 None None None None None None CELSR1|0.033878373|67.81%