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Genes:
A4GALT, AC002472.13, AC006547.14, AC006946.15, ACO2, ACR, ADM2, ADORA2A, AIFM3, ALG12, AP000349.1, AP000350.4, AP1B1, APOBEC3A, APOBEC3B, APOBEC3F, APOBEC3G, APOBEC3H, APOL1, APOL2, APOL3, APOL4, ARFGAP3, ARSA, ARVCF, ASCC2, ATP5L2, ATXN10, BAIAP2L2, BCL2L13, BCR, BRD1, C1QTNF6, C22orf23, C22orf24, C22orf26, C22orf34, C22orf42, C22orf43, C22orf46, CABIN1, CACNA1I, CARD10, CBY1, CCDC157, CCT8L2, CDC42EP1, CECR1, CECR2, CECR5, CECR6, CELSR1, CENPM, CHCHD10, CLDN5, CLTCL1, COMT, CPT1B, CRELD2, CRYBA4, CRYBB2, CRYBB3, CSF2RB, CTA-299D3.8, CYB5R3, CYP2D6, CYP2D7P, CYTH4, DDX17, DENND6B, DEPDC5, DGCR2, DNAL4, EFCAB6, EIF3L, EIF4ENIF1, ELFN2, FAM109B, FAM118A, FAM83F, FBLN1, FBXO7, FLJ27365, FOXRED2, GAB4, GAL3ST1, GALR3, GAS2L1, GCAT, GGT1, GGT5, GGTLC2, GNB1L, GRAMD4, GTSE1, HDAC10, HIC2, HPS4, IGLC3, IGLJ2, IGLJ3, IGLJ5, IGLJ7, IGLL1, IGLV1-47, IGLV1-50, IGLV1-51, IGLV10-54, IGLV11-55, IGLV2-11, IGLV2-14, IGLV2-18, IGLV2-23, IGLV3-12, IGLV3-16, IGLV3-21, IGLV3-25, IGLV4-60, IGLV5-45, IGLV5-48, IGLV6-57, IGLV7-46, IGLV8-61, IGLV9-49, IL17RA, IL17REL, IL2RB, INPP5J, ISX, JOSD1, KCNJ4, KCTD17, KIAA0930, KIAA1644, KIAA1671, KLHDC7B, L3MBTL2, LIMK2, LMF2, MAPK11, MAPK12, MAPK8IP2, MCAT, MED15, MEI1, MICAL3, MICALL1, MKL1, MMP11, MORC2, MOV10L1, MPPED1, MTFP1, MYH9, MYO18B, NAGA, NCF4, NDUFA6, NEFH, NFAM1, NIPSNAP1, NPTXR, OSBP2, P2RX6, PANX2, PARVB, PARVG, PATZ1, PDGFB, PI4KA, PIK3IP1, PIM3, PIWIL3, PKDREJ, PLA2G3, PLA2G6, PLXNB2, PNPLA3, PNPLA5, POLDIP3, PPM1F, PPP6R2, PRAME, PRODH, PRR14L, PRR5, RAB36, RAC2, RANGAP1, RASD2, RBFOX2, RFPL1, RFPL2, RFPL3, RGL4, RIBC2, RNF215, RPL3, RRP7A, RTDR1, SAMM50, SBF1, SCARF2, SCO2, SCUBE1, SDF2L1, SEC14L2, SEC14L3, SEC14L6, SELO, SERPIND1, SEZ6L, SF3A1, SFI1, SH3BP1, SHANK3, SLC16A8, SLC35E4, SLC5A1, SLC5A4, SLC7A4, SMC1B, SMTN, SNAP29, SNRPD3, SOX10, SPECC1L, SRRD, SUN2, SUSD2, SYCE3, SYNGR1, TBC1D10A, TBC1D22A, TBX1, TCF20, TCN2, TFIP11, THAP7, THOC5, TIMP3, TMEM184B, TMPRSS6, TNRC6B, TOB2, TOP3B, TPST2, TRIOBP, TSPO, TTC28, TTC38, TTLL1, TTLL12, TTLL8, TUBA8, TUBGCP6, TXNRD2, TYMP, UFD1L, UPB1, UPK3A, UQCR10, USP18, USP41, VPREB1, WBP2NL, XKR3, YDJC, ZBED4, ZNF280A, ZNF280B, ZNF74,

Genes at Omim

A4GALT, ACO2, ACR, ALG12, APOL1, APOL2, APOL4, ARSA, ATXN10, BCR, CECR1, CHCHD10, COMT, CRYBA4, CRYBB2, CRYBB3, CSF2RB, CYB5R3, CYP2D6, DEPDC5, DGCR2, DNAL4, FBLN1, FBXO7, GGT1, HPS4, IGLL1, IL17RA, KCTD17, MKL1, MORC2, MYH9, MYO18B, NAGA, NCF4, NEFH, PDGFB, PI4KA, PLA2G6, PRODH, RAC2, SBF1, SCARF2, SCO2, SHANK3, SLC5A1, SNAP29, SOX10, SPECC1L, TBX1, TCN2, TIMP3, TMPRSS6, TRIOBP, TUBA8, TUBGCP6, TYMP, UPB1,
A4GALT NOR polyagglutination syndrome, 111400 (3)
[Blood group, P1Pk system, P(2) phenotype], 111400 (3)
[Blood group, P1Pk system, p phenotype], 111400 (3)
ACO2 ?Optic atrophy 9, 616289 (3)
Infantile cerebellar-retinal degeneration, 614559 (3)
ACR ?Male infertility due to acrosin deficiency (2)
ALG12 Congenital disorder of glycosylation, type Ig, 607143 (3)
APOL1 {End-stage renal disease, nondiabetic, susceptibility to}, 612551 (3)
{Glomerulosclerosis, focal segmental, 4, susceptibility to}, 612551 (3)
APOL2 {Schizophrenia}, 181500 (1)
APOL4 {Schizophrenia}, 181500 (1)
ARSA Metachromatic leukodystrophy, 250100 (3)
ATXN10 Spinocerebellar ataxia 10, 603516 (3)
BCR Leukemia, acute lymphocytic, somatic, 613065 (3)
Leukemia, chronic myeloid, somatic, 608232 (3)
CECR1 ?Sneddon syndrome, 182410 (3)
Polyarteritis nodosa, childhood-onset, 615688 (3)
CHCHD10 ?Myopathy, isolated mitochondrial, autosomal dominant, 616209 (3)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, 615911 (3)
Spinal muscular atrophy, Jokela type, 615048 (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)
CRYBB3 Cataract 22, autosomal recessive, 609741 (3)
CSF2RB Surfactant metabolism dysfunction, pulmonary, 5, 614370 (3)
CYB5R3 Methemoglobinemia, type I, 250800 (3)
Methemoglobinemia, type II, 250800 (3)
CYP2D6 {Codeine sensitivity}, 608902 (3)
{Debrisoquine sensitivity}, 608902 (3)
DEPDC5 Epilepsy, familial focal, with variable foci 1, 604364 (3)
DGCR2 DiGeorge syndrome/velocardiofacial syndrome complex-2 (2)
DNAL4 ?Mirror movements 3, 616059 (3)
FBLN1 Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses, 608180 (4)
FBXO7 Parkinson disease 15, autosomal recessive, 260300 (3)
GGT1 Glutathioninuria (1)
HPS4 Hermansky-Pudlak syndrome 4, 614073 (3)
IGLL1 Agammaglobulinemia 2, 613500 (3)
IL17RA ?Candidiasis, familial, 5, autosomal recessive, 613953 (3)
KCTD17 Dystonia 26, myoclonic, 616398 (3)
MKL1 Megakaryoblastic leukemia, acute (3)
MORC2 Charcot-Marie-Tooth disease, axonal, type 2Z, 616688 (3)
MYH9 Deafness, autosomal dominant 17, 603622 (3)
Epstein syndrome, 153650 (3)
Fechtner syndrome, 153640 (3)
Macrothrombocytopenia and progressive sensorineural deafness, 600208 (3)
May-Hegglin anomaly, 155100 (3)
Sebastian syndrome, 605249 (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 ?{Amyotrophic lateral sclerosis, susceptibility to}, 105400 (3)
Charcot-Marie-Tooth disease, axonal, type 2CC, 616924 (3)
PDGFB Basal ganglia calcification, idiopathic, 5, 615483 (3)
Dermatofibrosarcoma protuberans, 607907 (3)
Meningioma, SIS-related, 607174 (3)
PI4KA Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, 616531 (3)
PLA2G6 Infantile neuroaxonal dystrophy 1, 256600 (3)
Neurodegeneration with brain iron accumulation 2B, 610217 (3)
Parkinson disease 14, autosomal recessive, 612953 (3)
PRODH Hyperprolinemia, type I, 239500 (3)
{Schizophrenia, susceptibility to, 4}, 600850 (3)
RAC2 Neutrophil immunodeficiency syndrome, 608203 (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)
SHANK3 Phelan-McDermid syndrome, 606232 (3)
{Schizophrenia 15}, 613950 (3)
SLC5A1 Glucose/galactose malabsorption, 606824 (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 ?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)
TUBA8 Polymicrogyria with optic nerve hypoplasia, 613180 (3)
TUBGCP6 Microcephaly and chorioretinopathy, autosomal recessive, 1, 251270 (3)
TYMP Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041 (3)
UPB1 Beta-ureidopropionase deficiency, 613161 (3)

Genes at Clinical Genomics Database

A4GALT, ACO2, ALG12, ARSA, ATXN10, BCR, CECR1, CHCHD10, COMT, CRYBA4, CRYBB2, CRYBB3, CSF2RB, CYB5R3, CYP2D6, DEPDC5, DGCR2, DNAL4, FBLN1, FBXO7, HPS4, IGLL1, IL17RA, KCTD17, MORC2, MYH9, MYO18B, NAGA, NCF4, NEFH, PI4KA, PLA2G6, PRODH, RAC2, SBF1, SCARF2, SCO2, SERPIND1, SHANK3, SLC5A1, SNAP29, SOX10, SPECC1L, TBX1, TCN2, TIMP3, TMPRSS6, TRIOBP, TUBA8, TUBGCP6, TYMP, UPB1, UPK3A,
A4GALT Blood group, P system
ACO2 Optic atrophy 9
Infantile cerebellar-retinal degeneration
ALG12 Congenital disorder of glycosylation, type Ig
ARSA Metachromatic leukodystrophy
ATXN10 Spinocerebellar ataxia 10
BCR CML treatment, response to
CECR1 Sneddon syndrome
Polyarteritis nodosa, childhood-onset (ADA2 deficiency)
CHCHD10 Myopathy, isolated mitochondrial, autosomal dominant
COMT Medication response, association with
CRYBA4 Cataract 23
CRYBB2 Cataract, congenital, cerulean type, 2
Cataract, Coppock-like
Cataract, sutural, with punctate and cerulean opacities
CRYBB3 Cataract, congenital nuclear, autosomal recessive, 2
CSF2RB Surfactant metabolism dysfunction, pulmonary, 5
CYB5R3 Methemoglobinemia due to methemoglobin reductase deficiency
CYP2D6 Drug metabolism, CYP2CD6-related
DEPDC5 Epilepsy, familial focal, with variable foci
DGCR2 Schizophrenia
DNAL4 Mirror movements 3
FBLN1 Synpolydactyly 2
FBXO7 Parkinson disease 15, autosomal recessive
HPS4 Hermansky-Pudlak syndrome 4
IGLL1 Agammaglobulinemia 2
IL17RA Candiasis, familial, 5
KCTD17 Dystonia 26, myoclonic
MORC2 Charcot-Marie-Tooth disease type, axonal, type 2Z
MYH9 Macrothrombocytopenia and progressive sensorineural deafness
Epstein syndrome
Fechtner syndrome
May-Hegglin anomaly
Sebastian syndrome
MYO18B Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism
NAGA Schindler disease type III
Schindler disease type I
Alpha-n-acetylgalactosaminidase deficiency
Kanzaki disease
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
PLA2G6 Neurodegeneration with brain iron accumulation 2B
Neurodegeneration with brain iron accumulation 2A
Parkinson disease 14, autosomal recessive
PRODH Hyperprolinemia, type I
RAC2 Neutrophil immunodeficiency syndrome
SBF1 Charcot-Marie-Tooth disease, type 4B3
SCARF2 Van den Ende-Gupta syndrome
SCO2 Hypertrophic cardiomyopathy
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1
Leigh syndrome
Myopia 6
SERPIND1 Heparin cofactor II deficiency
SHANK3 Schizophrenia
Phelan-McDermid syndrome
SLC5A1 Glucose/galactose malabsorption
SNAP29 Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (CEDNIK syndrome)
SOX10 Hirschsprung disease, susceptibility to, 10
Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease
Waardenburg syndrome, type 2E
Waardenburg syndrome, type 4C
SPECC1L Opitz GBBB syndrome, type II
Facial clefting, oblique, 1
TBX1 Tetralogy of Fallot
Conotruncal anomaly face syndrome
TCN2 Transcobalamin II deficiency
TIMP3 Sorsby fundus dystrophy
TMPRSS6 Iron-refractory iron deficiency anemia
TRIOBP Deafness, autosomal recessive 28
TUBA8 Polymicrogyria with optic nerve hypoplasia
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: 3023
Number of Genes: 272

Export to: CSV

A4GALT

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 mm170241ct 22 rs6002904
dbSNP
43089055 1282.77 G C . 1/1 38 SYNONYMOUS_CODING LOW SILENT 0.69529 0.69530 0.34674 None None None None None None None
View mm170241ct 22 rs9623659
dbSNP
43088971 604.77 C T . 0/1 43 SYNONYMOUS_CODING LOW SILENT 0.34904 0.34900 0.40420 None None None None None None None
View mm170241ct 22 rs11541159
dbSNP
43089849 651.77 T C . 0/1 57 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.35064 0.35060 0.40440 0.26 0.00 None None None None None None None

AC002472.13

Omim - GeneCards - NCBI
Options Individual Chr
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 22 rs201821840
dbSNP
21403360 61.77 C T . 0/1 20 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.07 0.80 None None None None None None None
View mm170241ct 22 rs28450680
dbSNP
21403376 81.77 C T . 0/1 21 SYNONYMOUS_CODING LOW SILENT 0.18311 0.18310 None None None None None None None
View mm170241ct 22 rs28504593
dbSNP
21403375 109.77 C A . 0/1 21 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.18311 0.18310 0.00 1.00 None None None None None None None

AC006547.14

Omim - GeneCards - NCBI
Options Individual Chr
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 22 rs139050179
dbSNP
20137723 205.77 C T . 0/1 34 SYNONYMOUS_CODING LOW SILENT 0.22963 0.22960 None None None None None None None
View mm170241ct 22 rs73391926
dbSNP
20138105 193.77 T C . 0/1 15 SYNONYMOUS_CODING LOW SILENT 0.46985 0.46980 None None None None None None None

AC006946.15

Omim - GeneCards - NCBI
Options Individual Chr
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 22 rs28360663
dbSNP
17603503 352.77 G A . 0/1 22 None None None 0.21126 0.21130 None None None None None None None
View mm170241ct 22 rs5992629
dbSNP
17602839 1593.77 G A . 1/1 47 SYNONYMOUS_CODING LOW SILENT 0.87820 0.87820 None None None None None None None

ACO2

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 22 rs1799932
dbSNP
41911525 309.78 C T . 1/1 10 SYNONYMOUS_CODING LOW SILENT 0.27037 0.27040 0.38375 None None None None None None None

ACR

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 22 rs5771002
dbSNP
51183255 468.77 A G . 0/1 51 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.72584 0.72580 0.57 0.02 None None None None None None None

ADM2

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 22 rs2236031
dbSNP
50921694 433.77 C T . 0/1 40 SYNONYMOUS_CODING LOW SILENT 0.22544 0.22540 None None None None None None None

ADORA2A

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 22 rs5751876
dbSNP
24837301 397.77 T C . 0/1 33 SYNONYMOUS_CODING LOW SILENT 0.44229 0.44230 0.48193 None None None None None None None

AIFM3

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 22 rs178264
dbSNP
21327589 399.77 C T . 0/1 24 None None None 0.21805 0.21810 0.12993 0.44 0.80 None None None None None None None
View mm170241ct 22 rs178269
dbSNP
21331043 1138.77 A T . 1/1 33 SYNONYMOUS_CODING LOW SILENT 1.00000 1.00000 None None None None None None None

ALG12

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 22 rs8135963
dbSNP
50301476 639.77 T C . 0/1 45 SYNONYMOUS_CODING LOW SILENT 0.40216 0.40220 0.38336 None None None None None None None
View mm170241ct 22 rs1321
dbSNP
50297435 1133.77 T C . 0/1 89 None None None 0.40216 0.40220 0.38093 0.00 None None None None None None None

AP000349.1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 22 rs28382576
dbSNP
24125892 154.77 G A . 0/1 12 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01538 0.01538 0.00 None None None None None None None

AP000350.4

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 22 rs2070767
dbSNP
24237463 750.77 T C . 1/1 23 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.77197 0.77200 0.00 None None None None None None None

AP1B1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 22 rs174765
dbSNP
29727866 438.77 C T . 1/1 16 SYNONYMOUS_CODING LOW SILENT 0.53195 0.53190 0.48370 None None None None None None None
View mm170241ct 22 rs2072051
dbSNP
29755888 1636.77 T C . 1/1 51 SYNONYMOUS_CODING LOW SILENT 0.66893 0.66890 0.35760 None None None None None None None
View mm170241ct 22 rs2857465
dbSNP
29727886 248.78 T C . 1/1 12 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.99980 0.99980 0.00008 1.00 0.00 None None None None None None None

APOBEC3A

Omim - GeneCards - NCBI
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RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 22 rs35994173
dbSNP
39357581 51.77 C T . 0/1 33 PROTEIN_INTERACTION_LOCUS HIGH 0.24581 0.24580 0.20635 None None None None None None None
View mm170241ct 22 rs2294363
dbSNP
39357634 10.2 A G LowQual 0/1 32 SYNONYMOUS_CODING LOW SILENT None None None None None None None

APOBEC3B

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 22 rs5995649
dbSNP
39382079 2364.77 C A . 1/1 71 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.94968 0.94970 0.04888 1.00 0.00 None None None None None None None
View mm170241ct 22 rs138093253
dbSNP
39387374 184.77 C T . 0/1 35 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01957 0.01957 0.01478 0.00 0.02 None None None None None None None
View mm170241ct 22 rs368511533
dbSNP
39387395 314.73 TG T . 0/1 26 FRAME_SHIFT HIGH 0.01897 0.01897 0.02056 None None None None None None None
View mm170241ct 22 rs2076109
dbSNP
39381826 297.77 A G . 0/1 39 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.64117 0.64120 0.39427 0.77 0.00 None None None None None None None
View mm170241ct 22 rs79053565,rs2076111
dbSNP
39381999 599.77 T C . 0/1 87 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View mm170241ct 22 rs35949382
dbSNP
39385510 459.77 T C . 0/1 33 SYNONYMOUS_CODING LOW SILENT 0.02196 0.02196 0.01907 None None None None None None None

APOBEC3F

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 22 rs5750728
dbSNP
39440149 966.77 C T . 0/1 68 None None None 0.50000 0.50000 0.43758 0.44 0.01 None None None None None None None
View mm170241ct 22 rs77279243,rs2020390
dbSNP
39441096 816.77 G T . 1/1 33 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.53375 0.53370 0.15 1.00 None None None None None None None
View mm170241ct 22 rs2076101
dbSNP
39445554 746.77 G A . 0/1 51 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.49541 0.49540 0.43426 0.16 0.90 None None None None None None None
View mm170241ct 22 rs35928287
dbSNP
39441128 252.77 C T . 0/1 42 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View mm170241ct 22 rs4821862
dbSNP
39441203 635.77 C T . 0/1 45 SYNONYMOUS_CODING LOW SILENT 0.59345 0.59350 0.46363 None None None None None None None

APOBEC3G

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 22 rs17496046
dbSNP
39482371 265.77 C G . 0/1 33 PROTEIN_INTERACTION_LOCUS HIGH 0.05731 0.05731 0.09296 0.05 1.00 None None None None None None None
View mm170241ct 22 rs5757465
dbSNP
39477123 1128.77 T C . 0/1 80 SYNONYMOUS_CODING LOW SILENT 0.28455 0.28450 0.31755 None None None None None None None

APOBEC3H

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 22 rs139294
dbSNP
39496412 406.77 G C . 0/1 31 SYNONYMOUS_CODING LOW SILENT 0.51478 0.51480 0.43995 None None None None None None None
View mm170241ct 22 rs139300
dbSNP
39497509 315.78 A G . 1/1 9 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 1.00000 1.00000 1.00 0.00 None None None None None None None
View mm170241ct 22 rs140936762,rs201177427,rs139292
dbSNP
39496322 904.73 TAAC T . 0/1 55 CODON_CHANGE_PLUS_CODON_DELETION MODERATE 0.31749 0.31750 0.32481 None None None None None None None
View mm170241ct 22 rs139302
dbSNP
39498038 360.77 G C . 0/1 27 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.51558 0.51560 0.42911 0.23 0.01 None None None None None None None
View mm170241ct 22 rs139297
dbSNP
39497404 374.77 G C . 0/1 32 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.52476 0.52480 0.42050 1.00 0.00 None None None None None None None
View mm170241ct 22 rs139298
dbSNP
39497452 234.77 A G . 0/1 19 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.52975 0.52980 0.42496 1.00 0.01 None None None None None None None
View mm170241ct 22 rs139299
dbSNP
39497454 199.77 G C . 0/1 19 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.52975 0.52980 0.42365 0.04 0.40 None None None None None None None

APOL1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 22 rs2239785
dbSNP
36661330 2903.77 G A . 1/1 85 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.67812 0.67810 0.34715 0.16 0.89 None None None None None None None
View mm170241ct 22 rs136177
dbSNP
36661842 1375.77 G A . 1/1 42 SYNONYMOUS_CODING LOW SILENT 0.85324 0.85320 0.16023 None None None None None None None
View mm170241ct 22 rs136176
dbSNP
36661646 4187.77 G A . 1/1 120 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.86262 0.86260 0.15101 1.00 0.00 None None None None None None None
View mm170241ct 22 rs136175
dbSNP
36661566 4836.77 G A . 1/1 143 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.86422 0.86420 0.15308 0.04 0.00 None None None None None None None
View mm170241ct 22 rs41297245
dbSNP
36657740 923.77 G A . 0/1 66 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.03015 0.03015 0.04967 0.62 0.03 None None None None None None None
View mm170241ct 22 rs136174
dbSNP
36661536 5028.77 C A . 1/1 148 SYNONYMOUS_CODING LOW SILENT 0.86422 0.86420 0.15324 None None None None None None None

APOL2

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 22 rs2010499
dbSNP
36629466 1312.77 T A . 0/1 86 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.17053 0.17050 0.03 0.16 None None None None None None None
View mm170241ct 22 rs132760
dbSNP
36623731 3694.77 T C . 1/1 105 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.00000 1.00000 0.66 0.00 None None None None None None None

APOL3

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 22 rs132653
dbSNP
36556823 2450.77 G T . 1/1 73 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.78474 0.78470 0.28410 0.31 None None None None None None None
View mm170241ct 22 rs132642
dbSNP
36545137 1059.77 A T . 1/1 30 None None None 0.94169 0.94170 0.11710 0.00 None None None None None None None
View mm170241ct 22 rs3827346
dbSNP
36537893 1544.77 A G . 0/1 107 SYNONYMOUS_CODING LOW SILENT 0.25919 0.25920 0.13940 None None None None None None None
View mm170241ct 22 rs61731692
dbSNP
36537725 784.77 G A . 0/1 52 SYNONYMOUS_CODING LOW SILENT 0.09425 0.09425 0.13140 None None None None None None None
View mm170241ct 22 rs61741884
dbSNP
36537763 667.77 C T . 0/1 45 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.02436 0.02436 0.04544 0.02 0.77 None None None None None None None

APOL4

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 22 rs6000174
dbSNP
36587279 490.77 A G . 0/1 37 SYNONYMOUS_CODING LOW SILENT 0.64697 0.64700 0.44084 None None None None None None None
View mm170241ct 22 rs6000173
dbSNP
36587223 336.77 G T . 0/1 30 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.64717 0.64720 0.44378 0.00 0.66 None None None None None None None
View mm170241ct 22 rs6000172
dbSNP
36587202 335.77 G A . 0/1 27 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.64697 0.64700 0.44227 0.00 0.02 None None None None None None None
View mm170241ct 22 rs80587
dbSNP
36598049 1573.77 C G . 1/1 45 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.62101 0.62100 0.47578 1.00 0.00 None None None None None None None
View mm170241ct 22 rs2007468
dbSNP
36591380 1381.77 A G . 1/1 44 SYNONYMOUS_CODING LOW SILENT 0.70068 0.70070 0.38713 None None None None None None None
View mm170241ct 22 rs2227169
dbSNP
36587952 2515.77 C T . 0/1 162 SYNONYMOUS_CODING LOW SILENT 0.64257 0.64260 0.44647 None None None None None None None
View mm170241ct 22 rs5845253,rs3075364
dbSNP
36587845 7258.73 A ACT . 0/1 342 None None None 0.67572 0.67570 0.40732 None None None None None None None
View mm170241ct 22 rs132700
dbSNP
36587704 2432.77 T C . 0/1 131 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.29812 0.29810 0.31358 0.24 0.00 None None None None None None None
View mm170241ct 22 rs2227168
dbSNP
36587511 1014.77 C T . 0/1 102 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.65316 0.65320 0.44114 0.58 0.00 None None None None None None None
View mm170241ct 22 rs2227167
dbSNP
36587486 946.77 A G . 0/1 107 SYNONYMOUS_CODING LOW SILENT 0.64736 0.64740 0.44397 None None None None None None None
View mm170241ct 22 rs6000181
dbSNP
36598081 1335.77 A T . 1/1 43 START_LOST HIGH MISSENSE 0.07668 0.07668 0.08435 0.00 0.40 None None None None None None None
View mm170241ct 22 rs132736
dbSNP
36598058 1531.77 T C . 1/1 45 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.62121 0.62120 0.47593 1.00 0.00 None None None None None None None

ARFGAP3

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 22 rs79850497
dbSNP
43195114 2000.77 G C . 0/1 136 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00240 0.00240 0.01138 0.30 0.02 None None None None None None None

ARSA

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 22 rs743616
dbSNP
51064039 958.77 G C . 0/1 70 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.40555 0.40560 0.48408 0.42 0.00 None None None None None None None
View mm170241ct 22 rs2071421
dbSNP
51064416 123.77 T C . 0/1 14 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.22484 0.22480 0.18228 0.28 0.01 None None None None None None None

ARVCF

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 22 rs2073748
dbSNP
19968971 158.77 G A . 0/1 14 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.36002 0.36000 0.34425 0.07 0.00 None None None None None None None
View mm170241ct 22 rs2073747
dbSNP
19969075 1151.77 A G . 1/1 34 SYNONYMOUS_CODING LOW SILENT 0.72145 0.72140 0.19203 None None None None None None None
View mm170241ct 22 rs2240717
dbSNP
19969106 569.77 A G . 0/1 39 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.41953 0.41950 0.40522 0.50 0.00 None None None None None None None
View mm170241ct 22 rs165815
dbSNP
19959473 1695.77 C T . 1/1 55 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.61681 0.61680 0.26496 1.00 0.00 None None None None None None None

ASCC2

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 22 rs112670477
dbSNP
30223584 1305.77 A G . 0/1 96 None None None 0.02556 0.02556 None None None None None None None

ATP5L2

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 22 rs6519327
dbSNP
43036245 499.77 G A . 0/1 36 SYNONYMOUS_CODING LOW SILENT 0.27276 0.27280 0.13820 None None None None None None None

ATXN10

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 22 rs3827398
dbSNP
46202925 1724.77 A G . 0/1 117 None None None 0.06510 0.06510 0.09995 None None None None None None None

BAIAP2L2

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 22 rs4820313
dbSNP
38506509 622.77 A G . 1/1 20 SYNONYMOUS_CODING LOW SILENT 1.00000 1.00000 None None None None None None None
View mm170241ct 22 rs142739979
dbSNP
38483155 1703.73 T TT... . 1/1 18 CODON_INSERTION MODERATE 0.30052 0.30050 0.33270 None None None None None None None

BCL2L13

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 22 rs4488761
dbSNP
18209613 950.77 A G . 0/1 82 SYNONYMOUS_CODING LOW SILENT 0.66594 0.66590 0.44756 None None None None None None None

BCR

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 22 rs140504
dbSNP
23627369 241.77 A G . 0/1 14 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.79373 0.79370 0.12264 1.00 0.00 None None None None None None None
View mm170241ct 22 rs2227939
dbSNP
23631801 582.77 T C . 0/1 62 SYNONYMOUS_CODING LOW SILENT 0.32268 0.32270 0.36883 None None None None None None None

BRD1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 22 rs35331092
dbSNP
50187853 273.77 C T . 0/1 25 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.06829 0.06829 0.07781 0.24 0.27 None None None None None None None
View mm170241ct 22 rs11912787
dbSNP
50217387 1111.77 G A . 0/1 74 SYNONYMOUS_CODING LOW SILENT 0.10144 0.10140 0.11556 None None None None None None None

C1QTNF6

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 22 rs11089827
dbSNP
37580442 503.77 A T . 0/1 36 None None None 0.36442 0.36440 0.00 None None None None None None None
View mm170241ct 22 rs229520
dbSNP
37578807 535.77 G A . 0/1 37 None None None 0.34105 0.34110 0.24402 None None None None None None None
View mm170241ct 22 rs229519
dbSNP
37578579 1213.77 C T . 0/1 91 SYNONYMOUS_CODING LOW SILENT 0.46466 0.46470 0.36852 None None None None None None None
View mm170241ct 22 rs7290488
dbSNP
37581383 362.77 C T . 0/1 23 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.07867 0.07867 0.14493 0.09 0.39 None None None None None None None

C22orf23

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 22 rs139859
dbSNP
38341134 387.77 T C . 0/1 40 SYNONYMOUS_CODING LOW SILENT 0.78135 0.78130 0.25258 None None None None None None None
View mm170241ct 22 . 38340464 11.12 C T LowQual 0/1 18 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.06 0.35 None None None None None None None

C22orf24

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 22 rs1984388
dbSNP
32334021 1988.77 T A . 0/1 114 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.24760 0.24760 0.18459 1.00 0.00 None None None None None None None
View mm170241ct 22 rs3788443
dbSNP
32334229 406.77 A C . 0/1 32 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.34505 0.34500 0.00 None None None None None None None

C22orf26

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 22 rs12159707
dbSNP
46449891 174.65 G A . 1/1 9 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.04832 0.21550 0.34472 0.31 0.00 None None None None None None None

C22orf34

Omim - GeneCards - NCBI
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RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 22 . 50017984 23.82 T G LowQual 0/1 6 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View mm170241ct 22 rs1016809
dbSNP
49834747 2404.77 C T . 1/1 67 None None None 0.49940 0.49940 0.00 None None None None None None None
View mm170241ct 22 rs748558912
dbSNP
50018283 1082.73 T TC . 0/1 72 FRAME_SHIFT HIGH None None None None None None None
View mm170241ct 22 rs916362
dbSNP
50017234 1513.77 A G . 1/1 48 SYNONYMOUS_CODING LOW SILENT 0.60324 0.60320 None None None None None None None