SELECT VARIANTS FROM EXCLUDE VARIANTS FROM
INDIVIDUALS:

SNP LIST:
GROUPS:

SAVED GENE LIST:

GENE LIST:
INDIVIDUALS:

EXCLUDE SNP LIST:
EXCLUDE GROUPS:

EXCLUDE SAVED GENE LIST:

EXCLUDE GENE LIST:
SELECT YOUR DISEASES:
OMIM:
CLINICAL GENOMICS DATABASE:
HGMD:
MUTATION TYPE:
CHR:

POS:
VARIANT EFFECT FUNCTIONAL CLASS IMPACT
DBSNP BUILD:


EXCLUDE VARIANTS AT VARISNP
READ DEPTH:

QUAL:
VARIANTS PER GENE:
SHOW ONLY VARIANTS PRESENT IN COMMON GENES BETWEEN ALL THE INDIVIDUALS SELECTED
SHOW ONLY VARIANTS AT EXACTLY SAME POSITION BETWEEN ALL THE INDIVIDUALS SELECTED
EXCLUDE ALL VARIANTS PRESENT IN LATEST DBSNP BUILD
SHOW ONLY VARIANTS PRESENT AT HGMD

FREQUENCIES

1000 GENOMES FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES
DBSNP FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN DBSNP
ESP6500 FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN EXOME SEQUENCING PROJECT

SCORES

SIFT SCORE

EXCLUDE VARIANTS WITHOUT SIFT SCORE
POLYPHEN2 SCORE

EXCLUDE VARIANTS WITHOUT POLYPHEN SCORE
CADD

EXCLUDE VARIANTS WITHOUT CADD SCORE
MCAP

EXCLUDE VARIANTS WITHOUT M-CAP SCORE
OPEN RESULT IN A NEW WINDOW
RESET FILTER | Save Config | Save Analysis

Genes:
ABCD4, ABHD12B, ACIN1, ACOT2, ACOT4, ACYP1, ADAM21, ADCK1, ADSSL1, AHNAK2, AHSA1, AJUBA, AK7, AKAP5, AKAP6, AL139099.1, ALKBH1, APEX1, APOPT1, ARHGEF40, ARID4A, ASB2, ASPG, ATG2B, ATL1, ATP5S, ATXN3, BAZ1A, BCL2L2-PABPN1, BDKRB1, BDKRB2, BEGAIN, BMP4, BRF1, BTBD6, BTBD7, C14orf105, C14orf159, C14orf166B, C14orf178, C14orf180, C14orf182, C14orf37, C14orf39, C14orf79, C14orf80, CATSPERB, CCDC175, CCDC176, CCDC177, CCDC85C, CCDC88C, CCNB1IP1, CDC42BPB, CDCA4, CDKL1, CEP128, CEP170B, CGRRF1, CHD8, CHGA, CHMP4A, CINP, CKB, CLMN, CMA1, CMTM5, COCH, COQ6, CPNE6, CRIP1, CTAGE5, DAAM1, DCAF5, DDHD1, DEGS2, DHRS1, DIO2, DLK1, DLST, DNAAF2, DPF3, DTD2, DYNC1H1, EDDM3B, EFCAB11, EFS, EIF5, ELMSAN1, EML1, ENTPD5, ERO1L, ESRRB, EVL, EXD2, EXOC3L4, FAM161B, FAM181A, FBLN5, FBXO33, FERMT2, FLRT2, FLVCR2, FOS, FOXA1, FRMD6, FSCB, FUT8, GALC, GOLGA5, GPATCH2L, GPR135, GPR137C, GPR33, GPR65, GSTZ1, GZMB, HEATR4, HEATR5A, HECTD1, HHIPL1, HOMEZ, HSP90AA1, HSPA2, IFI27, IGHV4-28, IGHV4-31, IGHV4-4, IGHV4-61, INF2, INSM2, IPO4, IRF2BPL, ISM2, JAG2, JDP2, KCNH5, KCNK10, KHNYN, KIAA0391, KIAA0586, KIF26A, KLHDC1, KLHL33, KTN1, L2HGDH, L3HYPDH, LGMN, LRFN5, LRR1, LRRC16B, LTB4R2, LTBP2, MAP3K9, MARK3, MBIP, MDGA2, METTL17, METTL3, MIA2, MLH3, MMP14, MRPL52, MTA1, MTHFD1, MYH6, MYH7, NDRG2, NEK9, NEMF, NFATC4, NFKBIA, NGDN, NID2, NIN, NOP9, NRDE2, NRXN3, NYNRIN, OR10G3, OR11G2, OR11H12, OR11H4, OR11H6, OR4E2, OR4K1, OR4K13, OR4K14, OR4K15, OR4K2, OR4L1, OR4N2, OR4Q3, OR5AU1, OR6S1, OTUB2, OXA1L, PACS2, PAPLN, PAPOLA, PARP2, PAX9, PCK2, PCNX, PCNXL4, PIGH, PLEKHG3, PLEKHH1, PNN, POLE2, POMT2, POTEG, POTEM, PPP1R13B, PPP1R36, PPP2R5C, PRIMA1, PRKCH, PRKD1, PSMC1, PSME2, PTGER2, PTGR2, PTPN21, PYGL, RABGGTA, RBM23, RCOR1, REC8, REM2, RGS6, RIN3, RIPK3, RNASE11, RNASE13, RNASE3, RNASE4, RNASE7, RNASE8, RNASE9, RNF31, RPGRIP1, RPL36AL, RTL1, RTN1, SALL2, SAMD15, SAMD4A, SDR39U1, SEC23A, SERPINA1, SERPINA10, SERPINA11, SERPINA12, SERPINA3, SERPINA4, SERPINA5, SERPINA6, SERPINA9, SETD3, SIPA1L1, SIX4, SIX6, SLC24A4, SLC25A21, SLC25A21-AS1, SLC25A47, SLC38A6, SLC39A2, SLC7A7, SLC8A3, SLIRP, SNW1, SNX6, SOCS4, SOS2, SPATA7, SPTB, SPTLC2, SSTR1, STON2, STRN3, SUPT16H, SYNDIG1L, SYNE2, SYNE3, SYT16, TBPL2, TC2N, TDP1, TDRD9, TECPR2, TEP1, TEX22, TGM1, TM9SF1, TMED8, TMEM121, TMEM179, TMEM253, TMEM260, TMEM30B, TMEM63C, TMX1, TNFAIP2, TRAF3, TRIM9, TRIP11, TRMT5, TRMT61A, TSHR, TTC5, TTC6, TTC7B, TTC9, TTLL5, UNC79, VASH1, VRK1, VRTN, VSX2, WARS, WDR25, XRCC3, YLPM1, YY1, ZBTB1, ZBTB42, ZFHX2, ZFYVE1, ZFYVE21, ZFYVE26, ZNF219, ZNF410, ZNF839,

Genes at Omim

ABCD4, ADSSL1, AK7, APOPT1, ATL1, ATXN3, BMP4, BRF1, CCDC88C, CHD8, COCH, COQ6, DDHD1, DYNC1H1, EML1, ESRRB, FBLN5, FLVCR2, FUT8, GALC, GSTZ1, INF2, IRF2BPL, KIAA0586, L2HGDH, LTBP2, MARK3, MLH3, MMP14, MTHFD1, MYH6, MYH7, NEK9, NFKBIA, NIN, PACS2, PAX9, PCK2, PIGH, POMT2, PRKCH, PRKD1, PTGER2, PYGL, RPGRIP1, SALL2, SEC23A, SERPINA1, SERPINA3, SIX6, SLC24A4, SLC7A7, SOS2, SPATA7, SPTB, SPTLC2, SYNE2, TDP1, TDRD9, TECPR2, TGM1, TMEM260, TRAF3, TRIP11, TRMT5, TSHR, TTLL5, VRK1, WARS, XRCC3, YY1, ZBTB42, ZFHX2, ZFYVE26,
ABCD4 Methylmalonic aciduria and homocystinuria, cblJ type, 614857 (3)
ADSSL1 Myopathy, distal, 5, 617030 (3)
AK7 ?Spermatogenic failure 27, 617965 (3)
APOPT1 Mitochondrial complex IV deficiency, 220110 (3)
ATL1 Neuropathy, hereditary sensory, type ID, 613708 (3)
Spastic paraplegia 3A, autosomal dominant, 182600 (3)
ATXN3 Machado-Joseph disease, 109150 (3)
BMP4 Microphthalmia, syndromic 6, 607932 (3)
Orofacial cleft 11, 600625 (3)
BRF1 Cerebellofaciodental syndrome, 616202 (3)
CCDC88C Hydrocephalus, congenital, 1, 236600 (3)
?Spinocerebellar ataxia 40, 616053 (3)
CHD8 {Autism, susceptibility to, 18}, 615032 (3)
COCH Deafness, autosomal dominant 9, 601369 (3)
?Deafness, autosomal recessive 110, 618094 (3)
COQ6 Coenzyme Q10 deficiency, primary, 6, 614650 (3)
DDHD1 Spastic paraplegia 28, autosomal recessive, 609340 (3)
DYNC1H1 Charcot-Marie-Tooth disease, axonal, type 20, 614228 (3)
Mental retardation, autosomal dominant 13, 614563 (3)
Spinal muscular atrophy, lower extremity-predominant 1, AD, 158600 (3)
EML1 Band heterotopia, 600348 (3)
ESRRB Deafness, autosomal recessive 35, 608565 (3)
FBLN5 Cutis laxa, autosomal dominant 2, 614434 (3)
Cutis laxa, autosomal recessive, type IA, 219100 (3)
Macular degeneration, age-related, 3, 608895 (3)
Neuropathy, hereditary, with or without age-related macular degeneration, 608895 (3)
FLVCR2 Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome, 225790 (3)
FUT8 Congenital disorder of glycosylation with defective fucosylation 1, 618005 (3)
GALC Krabbe disease, 245200 (3)
GSTZ1 [Maleylacetoacetate isomerase deficiency], 617596 (3)
INF2 Glomerulosclerosis, focal segmental, 5, 613237 (3)
Charcot-Marie-Tooth disease, dominant intermediate E, 614455 (3)
IRF2BPL Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures, 618088 (3)
KIAA0586 Joubert syndrome 23, 616490 (3)
Short-rib thoracic dysplasia 14 with polydactyly, 616546 (3)
L2HGDH L-2-hydroxyglutaric aciduria, 236792 (3)
LTBP2 Glaucoma 3, primary congenital, D, 613086 (3)
Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, 251750 (3)
?Weill-Marchesani syndrome 3, recessive, 614819 (3)
MARK3 ?Visual impairment and progressive phthisis bulbi, 618283 (3)
MLH3 Colorectal cancer, hereditary nonpolyposis, type 7, 614385 (3)
Colorectal cancer, somatic, 114500 (3)
{Endometrial cancer, susceptibility to}, 608089 (3)
MMP14 ?Winchester syndrome, 277950 (3)
MTHFD1 Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia, 617780 (3)
{Neural tube defects, folate-sensitive, susceptibility to}, 601634 (3)
MYH6 Atrial septal defect 3, 614089 (3)
Cardiomyopathy, dilated, 1EE, 613252 (3)
Cardiomyopathy, hypertrophic, 14, 613251 (3)
{Sick sinus syndrome 3}, 614090 (3)
MYH7 Cardiomyopathy, dilated, 1S, 613426 (3)
Cardiomyopathy, hypertrophic, 1, 192600 (3)
Laing distal myopathy, 160500 (3)
Left ventricular noncompaction 5, 613426 (3)
Myopathy, myosin storage, autosomal dominant, 608358 (3)
Myopathy, myosin storage, autosomal recessive, 255160 (3)
Scapuloperoneal syndrome, myopathic type, 181430 (3)
NEK9 Lethal congenital contracture syndrome 10, 617022 (3)
Nevus comedonicus, somatic, 617025 (3)
?Arthrogryposis, Perthes disease, and upward gaze palsy, 614262 (3)
NFKBIA Ectodermal dysplasia and immunodeficiency 2, 612132 (3)
NIN ?Seckel syndrome 7, 614851 (3)
PACS2 Epileptic encephalopathy, early infantile, 66, 618067 (3)
PAX9 Tooth agenesis, selective, 3, 604625 (3)
PCK2 PEPCK deficiency, mitochondrial, 261650 (1)
PIGH Glycosylphosphatidylinositol biosynthesis defect 17, 618010 (3)
POMT2 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150 (3)
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2, 613156 (3)
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2, 613158 (3)
PRKCH {Cerebral infarction, susceptibility to}, 601367 (3)
PRKD1 Congenital heart defects and ectodermal dysplasia, 617364 (3)
PTGER2 {Asthma, aspirin-induced, susceptibility to}, 208550 (3)
PYGL Glycogen storage disease VI, 232700 (3)
RPGRIP1 Cone-rod dystrophy 13, 608194 (3)
Leber congenital amaurosis 6, 613826 (3)
SALL2 ?Coloboma, ocular, autosomal recessive, 216820 (3)
SEC23A Craniolenticulosutural dysplasia, 607812 (3)
SERPINA1 Hemorrhagic diathesis due to antithrombin Pittsburgh, 613490 (3)
Emphysema due to AAT deficiency, 613490 (3)
Emphysema-cirrhosis, due to AAT deficiency, 613490 (3)
{Pulmonary disease, chronic obstructive, susceptibility to}, 606963 (1)
SERPINA3 Alpha-1-antichymotrypsin deficiency (3)
Cerebrovascular disease, occlusive (3)
SIX6 Optic disc anomalies with retinal and/or macular dystrophy, 212550 (3)
SLC24A4 Amelogenesis imperfecta, type IIA5, 615887 (3)
[Skin/hair/eye pigmentation 6, blond/brown hair], 210750 (3)
[Skin/hair/eye pigmentation 6, blue/green eyes], 210750 (3)
SLC7A7 Lysinuric protein intolerance, 222700 (3)
SOS2 Noonan syndrome 9, 616559 (3)
SPATA7 Leber congenital amaurosis 3, 604232 (3)
Retinitis pigmentosa, juvenile, autosomal recessive, 604232 (3)
SPTB Anemia, neonatal hemolytic, fatal or near-fatal, 617948 (3)
Elliptocytosis-3, 617948 (3)
Spherocytosis, type 2, 616649 (3)
SPTLC2 Neuropathy, hereditary sensory and autonomic, type IC, 613640 (3)
SYNE2 Emery-Dreifuss muscular dystrophy 5, autosomal dominant, 612999 (3)
TDP1 Spinocerebellar ataxia, autosomal recessive with axonal neuropathy, 607250 (3)
TDRD9 ?Spermatogenic failure 30, 618110 (3)
TECPR2 Spastic paraplegia 49, autosomal recessive, 615031 (3)
TGM1 Ichthyosis, congenital, autosomal recessive 1, 242300 (3)
TMEM260 Structural heart defects and renal anomalies syndrome, 617478 (3)
TRAF3 {?Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5}, 614849 (3)
TRIP11 Achondrogenesis, type IA, 200600 (3)
Osteochondrodysplasia, 184260 (3)
TRMT5 Combined oxidative phosphorylation deficiency 26, 616539 (3)
TSHR Hyperthyroidism, familial gestational, 603373 (3)
Hyperthyroidism, nonautoimmune, 609152 (3)
Hypothyroidism, congenital, nongoitrous, 1 275200 (3)
Thyroid adenoma, hyperfunctioning, somatic (3)
Thyroid carcinoma with thyrotoxicosis (3)
TTLL5 Cone-rod dystrophy 19, 615860 (3)
VRK1 Pontocerebellar hypoplasia type 1A, 607596 (3)
WARS Neuronopathy, distal hereditary motor, type IX, 617721 (3)
XRCC3 {Melanoma, cutaneous malignant, 6}, 613972 (3)
{Breast cancer, susceptibility to}, 114480 (3)
YY1 Gabriele-de Vries syndrome, 617557 (3)
ZBTB42 ?Lethal congenital contracture syndrome 6, 616248 (3)
ZFHX2 ?Marsili syndrome, 147430 (3)
ZFYVE26 Spastic paraplegia 15, autosomal recessive, 270700 (3)

Genes at Clinical Genomics Database

ABCD4, APOPT1, ATL1, ATXN3, BMP4, BRF1, CCDC88C, CHD8, COCH, COQ6, DNAAF2, DYNC1H1, ESRRB, FBLN5, FLVCR2, GALC, INF2, KIAA0586, L2HGDH, LTBP2, MLH3, MMP14, MTHFD1, MYH6, MYH7, NFKBIA, NIN, PAX9, POMT2, PYGL, RPGRIP1, SALL2, SEC23A, SERPINA1, SERPINA6, SIX6, SLC24A4, SLC7A7, SOS2, SPATA7, SPTB, SYNE2, TDP1, TECPR2, TGM1, TRAF3, TRIP11, TRMT5, TSHR, TTLL5, VRK1, VSX2, ZBTB42, ZFYVE26,
ABCD4 Methylmalonic aciduria and homocystinuria, cblJ type
APOPT1 Mitochondrial complex IV deficiency
ATL1 Neuropathy, hereditary sensory, type 1D
Spastic paraplegia 3, autosomal dominant
ATXN3 Spinocerebellar ataxia 3 (Machado-Joseph disease)
BMP4 Microphthalmia, syndromic 6
Orofacial cleft 11
BRF1 Cerebellofaciodental syndrome
CCDC88C Spinocerebellar ataxia 40
CHD8 Autism, susceptibility to 18
COCH Deafness, autosomal dominant 9
COQ6 Coenzyme Q10 deficiency, primary 6
DNAAF2 Ciliary dyskinesia, primary, 10
DYNC1H1 Charcot-Marie-Tooth disease, axonal, type 2O
Mental retardation, autosomal dominant 13
Spinal muscular atrophy, lower extremity, autosomal dominant
ESRRB Deafness, autosomal recessive 35
FBLN5 Macular degeneration, age-related 3
Cutis laxa, autosomal dominant 2
Cutis laxa, autosomal recessive, type IA
FLVCR2 Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome
GALC Krabbe disease
INF2 Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease, dominant intermediate E
KIAA0586 Joubert syndrome 23
Short rib thoracic dysplasia 14 with polydactyly
L2HGDH L-2-hydroxyglutaric aciduria
LTBP2 Glaucoma 3, primary congenital, D
Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma
Weill-Marchesani syndrome 3
MLH3 Colorectal cancer, hereditary nonpolyposis type 7
Endometrial carcinoma
MMP14 Winchester syndrome
MTHFD1 Severe combined immunodeficiency
MYH6 Cardiomyopathy, dilated, 1EE
Cardiomyopathy, familial hypertrophic 14
MYH7 Cardiomyopathy, dilated, 1S
Cardiomyopathy, familial hypertrophic
Myopathy, distal
Myopathy, myosin storage, autosomal recessive
NFKBIA Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency
NIN Seckel syndrome 7
PAX9 Tooth agenesis, selective, 3
POMT2 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C 2
PYGL Glycogen storage disease VI
RPGRIP1 Leber congenital amaurosis 6
Cone-rod dystrophy 13
SALL2 Ocular coloboma
SEC23A Craniolenticulosutural dysplasia
SERPINA1 Alpha-1-Antitrypsin deficiency
SERPINA6 Corticosteroid-binding globulin deficiency
SIX6 Microphthalmia, isolated, with cataract 2
Optic disc anomalies with retinal and/or macular dystrophy
SLC24A4 Ameliogenesis imperfecta, hypomaturation type, IIA5
SLC7A7 Lysinuric protein intolerance
SOS2 Noonan syndrome 9
SPATA7 Leber congenital amaurosis 3
Retitinitis pigmentosa, juvenile, SPATA7-related
SPTB Spherocytosis, type 2
Ellipsocytosis, type 3
Anemia, neonatal hemolytic
SYNE2 Emery-Dreifuss muscular dystrophy 5, autosomal dominant
TDP1 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy
TECPR2 Spastic paraplegia 49, autosomal recessive
TGM1 Ichthyosis, congenital, autosomal recessive 1
TRAF3 Herpes simplex encephalitis, susceptibility to, 3
TRIP11 Achondrogenesis, type IA
TRMT5 Combined oxidative phosphorylation deficiency 26
TSHR Hyperthyroidism, familial, gestational
Hyperthyroidism, nonautoimmune
Hypothyroidism, congenital, nongoitrous, 1
TTLL5 Cone-rod dystrophy 19
VRK1 Pontocerebellar hypoplasia type 1A
VSX2 Microphthalmia, isolated 2
Microphthalmia, isolated, with coloboma 3
ZBTB42 Lethal congenital contracture syndrome 6
ZFYVE26 Spastic paraplegia 15

Genes at HGMD

Summary

Number of Variants: 6521
Number of Genes: 335

Export to: CSV

ABCD4

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 rbna2s annoted 14 rs147795328
dbSNP Clinvar
74759066 51.0 G A . 0/1 0 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00339 0.00340 0.00023 0.19 0.01 None None None None None None ABCD4|0.201608796|36.57%

ABHD12B

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 rbna2s annoted 14 rs28564871
dbSNP Clinvar
51368610 64.0 A G . 1/1 0 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.28375 0.28370 0.17772 1.00 0.00 None None None None None None PYGL|0.75708561|6.92%,ABHD12B|0.032837943|68.22%

ACIN1

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 rbna2s annoted 14 rs941719
dbSNP Clinvar
23549379 60.0 C G . 1/1 0 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.99960 0.99960 0.00338 1.00 0.00 None None None None None None ACIN1|0.717450786|8.04%

ACOT2

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 rbna2s annoted 14 rs7494
dbSNP Clinvar
74042189 55.0 A G . 0/1 0 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.21 0.00 None None None None None None ACOT2|0.010972761|80.08%
View rbna2s annoted 14 rs149033118
dbSNP Clinvar
74041748 61.0 A G . 1/1 0 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.30 0.00 None None None None None None ACOT2|0.010972761|80.08%

ACOT4

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 rbna2s annoted 14 rs3742819
dbSNP Clinvar
74058832 48.0 C T . 0/1 0 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.39697 0.39700 0.25100 0.04 0.74 None None None None None None ACOT4|0.025540514|71.55%
View rbna2s annoted 14 rs2010070
dbSNP Clinvar
74061968 57.0 T C . 1/1 0 SYNONYMOUS_CODING LOW SILENT 0.86182 0.86180 0.20060 None None None None None None ACOT4|0.025540514|71.55%

ACYP1

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 rbna2s annoted 14 rs175499
dbSNP Clinvar
75535927 62.0 G A . 0/1 0 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.33786 0.33790 0.36 0.00 None None None None None None ACYP1|0.151950805|42.69%,ZC2HC1C|0.014803049|77.29%

ADAM21

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 rbna2s annoted 14 rs45466397
dbSNP Clinvar
70925863 74.0 A C . 0/1 0 SYNONYMOUS_CODING LOW SILENT None None None None None None ADAM21|0.009866102|80.97%
View rbna2s annoted 14 rs2022624
dbSNP Clinvar
70925818 69.0 T C . 1/1 0 SYNONYMOUS_CODING LOW SILENT 0.74301 0.74300 None None None None None None ADAM21|0.009866102|80.97%
View rbna2s annoted 14 rs72735760
dbSNP Clinvar
70925501 46.0 G C . 0/1 0 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01757 0.01757 0.03621 0.32 0.06 None None None None None None ADAM21|0.009866102|80.97%
View rbna2s annoted 14 rs143896383
dbSNP Clinvar
70925320 60.0 T C . 0/1 0 SYNONYMOUS_CODING LOW SILENT 0.01058 0.01058 0.01276 None None None None None None ADAM21|0.009866102|80.97%
View rbna2s annoted 14 rs12436346
dbSNP Clinvar
70925257 60.0 A G . 1/1 0 SYNONYMOUS_CODING LOW SILENT 0.02736 None None None None None None ADAM21|0.009866102|80.97%
View rbna2s annoted 14 rs3829455
dbSNP Clinvar
70924852 55.0 A C . 1/1 0 SYNONYMOUS_CODING LOW SILENT 0.44070 0.44070 0.36028 None None None None None None ADAM21|0.009866102|80.97%
View rbna2s annoted 14 rs72735759
dbSNP Clinvar
70924602 61.0 T G . 0/1 0 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.03 0.26 None None None None None None ADAM21|0.009866102|80.97%
View rbna2s annoted 14 rs8010994
dbSNP Clinvar
70924501 62.0 C G . 1/1 0 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.06 0.00 None None None None None None ADAM21|0.009866102|80.97%
View rbna2s annoted 14 rs3751523
dbSNP Clinvar
70924462 66.0 A G . 1/1 0 SYNONYMOUS_CODING LOW SILENT 0.19437 None None None None None None ADAM21|0.009866102|80.97%
View rbna2s annoted 14 rs58247196
dbSNP Clinvar
70924450 72.0 C T . 0/1 0 SYNONYMOUS_CODING LOW SILENT None None None None None None ADAM21|0.009866102|80.97%

ADCK1

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 rbna2s annoted 14 rs2302944
dbSNP Clinvar
78390880 55.0 T C . 0/1 0 SYNONYMOUS_CODING LOW SILENT 0.23463 0.23460 0.20022 None None None None None None ADCK1|0.142961952|44%
View rbna2s annoted 14 rs34272020
dbSNP Clinvar
78374172 57.0 C T . 0/1 0 SYNONYMOUS_CODING LOW SILENT 0.07648 0.07648 0.11710 None None None None None None ADCK1|0.142961952|44%

ADSSL1

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 rbna2s annoted 14 rs33958252
dbSNP Clinvar
105196365 60.0 T C . 0/1 0 SYNONYMOUS_CODING LOW SILENT 0.60923 0.60920 0.44888 None None None None None None ADSSL1|0.059470498|60.05%
View rbna2s annoted 14 rs34672588
dbSNP Clinvar
105196235 56.0 G A . 0/1 0 SYNONYMOUS_CODING LOW SILENT 0.53435 0.53430 0.46393 None None None None None None ADSSL1|0.059470498|60.05%
View rbna2s annoted 14 . 105209493 46.0 T C . 0/1 0 SYNONYMOUS_CODING LOW SILENT None None None None None None ADSSL1|0.059470498|60.05%

AHNAK2

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 rbna2s annoted 14 rs145693791
dbSNP Clinvar
105416839 47.0 G T . 0/1 0 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.02696 0.02696 0.63 0.00 None None None None None None AHNAK2|0.000253171|99.62%
View rbna2s annoted 14 rs180896416
dbSNP Clinvar
105416838 50.0 C A . 0/1 0 SYNONYMOUS_CODING LOW SILENT 0.00060 0.02636 None None None None None None AHNAK2|0.000253171|99.62%
View rbna2s annoted 14 rs59373922
dbSNP Clinvar
105416784 62.0 A G . 0/1 0 SYNONYMOUS_CODING LOW SILENT 0.25919 0.25920 0.16396 None None None None None None AHNAK2|0.000253171|99.62%
View rbna2s annoted 14 rs61421370
dbSNP Clinvar
105406372 66.0 C T . 1/1 0 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.29313 0.29310 0.42651 0.65 0.06 None None None None None None AHNAK2|0.000253171|99.62%
View rbna2s annoted 14 rs2819419
dbSNP Clinvar
105406238 59.0 A C . 1/1 0 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.59086 0.59090 0.38914 0.67 0.00 None None None None None None AHNAK2|0.000253171|99.62%
View rbna2s annoted 14 rs28454709
dbSNP Clinvar
105405942 63.0 G A . 1/1 0 SYNONYMOUS_CODING LOW SILENT 0.55491 0.55490 0.41459 None None None None None None AHNAK2|0.000253171|99.62%
View rbna2s annoted 14 rs3742935
dbSNP Clinvar
105405599 57.0 G C . 1/1 0 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.55511 0.55510 0.41569 0.02 0.67 None None None None None None AHNAK2|0.000253171|99.62%
View rbna2s annoted 14 rs191233073
dbSNP Clinvar
105416721 61.0 T C . 0/1 0 SYNONYMOUS_CODING LOW SILENT 0.02336 0.02336 0.00412 None None None None None None AHNAK2|0.000253171|99.62%
View rbna2s annoted 14 rs199542674
dbSNP Clinvar
105416718 57.0 A G . 0/1 0 SYNONYMOUS_CODING LOW SILENT 0.02316 0.02316 0.00387 None None None None None None AHNAK2|0.000253171|99.62%
View rbna2s annoted 14 rs202059234
dbSNP Clinvar
105416715 62.0 A G . 0/1 0 SYNONYMOUS_CODING LOW SILENT 0.02776 0.02776 0.00626 None None None None None None AHNAK2|0.000253171|99.62%
View rbna2s annoted 14 rs2582506
dbSNP Clinvar
105416685 67.0 C G . 1/1 0 SYNONYMOUS_CODING LOW SILENT 0.00220 0.00220 0.30909 None None None None None None AHNAK2|0.000253171|99.62%
View rbna2s annoted 14 rs28593209
dbSNP Clinvar
105416649 60.0 G A . 0/1 0 SYNONYMOUS_CODING LOW SILENT 0.27696 0.27700 0.41438 None None None None None None AHNAK2|0.000253171|99.62%
View rbna2s annoted 14 rs188521676
dbSNP Clinvar
105416524 46.0 G T . 0/1 0 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00978 0.00978 0.01034 1.00 0.00 None None None None None None AHNAK2|0.000253171|99.62%
View rbna2s annoted 14 rs200758735
dbSNP Clinvar
105416280 49.0 A C,T . 1/2 0 SYNONYMOUS_CODING LOW SILENT 0.00879 0.02756 0.02725 None None None None None None AHNAK2|0.000253171|99.62%
View rbna2s annoted 14 rs527306736
dbSNP Clinvar
105416272 58.0 C T . 0/1 0 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01018 0.01018 0.30 0.08 None None None None None None AHNAK2|0.000253171|99.62%
View rbna2s annoted 14 rs2582509
dbSNP Clinvar
105416271 57.0 G C . 0/1 0 SYNONYMOUS_CODING LOW SILENT 0.01897 0.01897 0.00457 None None None None None None AHNAK2|0.000253171|99.62%
View rbna2s annoted 14 rs2819435
dbSNP Clinvar
105416220 61.0 T A . 1/1 0 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.07528 0.72180 0.13588 1.00 0.00 None None None None None None AHNAK2|0.000253171|99.62%
View rbna2s annoted 14 rs141832058
dbSNP Clinvar
105416052 65.0 G A . 0/1 0 SYNONYMOUS_CODING LOW SILENT 0.00759 0.00759 0.00702 None None None None None None AHNAK2|0.000253171|99.62%
View rbna2s annoted 14 rs2582511
dbSNP Clinvar
105416010 56.0 T C . 1/1 0 SYNONYMOUS_CODING LOW SILENT 0.58347 0.58350 0.35749 None None None None None None AHNAK2|0.000253171|99.62%
View rbna2s annoted 14 rs118171013
dbSNP Clinvar
105415748 51.0 G A . 0/1 0 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.30032 0.30030 0.44101 1.00 0.00 None None None None None None AHNAK2|0.000253171|99.62%
View rbna2s annoted 14 rs11625007
dbSNP Clinvar
105418391 58.0 C T . 1/1 0 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.48587 1.00 0.01 None None None None None None AHNAK2|0.000253171|99.62%
View rbna2s annoted 14 rs117379881
dbSNP Clinvar
105415745 56.0 C G . 0/1 0 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.27716 0.27720 0.42009 0.31 0.95 None None None None None None AHNAK2|0.000253171|99.62%
View rbna2s annoted 14 rs11850848
dbSNP Clinvar
105415608 68.0 G C . 1/1 0 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00379 0.00379 0.27640 1.00 0.03 None None None None None None AHNAK2|0.000253171|99.62%
View rbna2s annoted 14 rs150617757
dbSNP Clinvar
105415541 57.0 T C . 1/1 0 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.06130 0.06130 0.08103 0.10 1.00 None None None None None None AHNAK2|0.000253171|99.62%
View rbna2s annoted 14 rs11846918
dbSNP Clinvar
105415469 59.0 T C . 1/1 0 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.44808 0.44810 0.31536 1.00 0.00 None None None None None None AHNAK2|0.000253171|99.62%
View rbna2s annoted 14 rs79003030
dbSNP Clinvar
105415422 61.0 G A . 1/1 0 SYNONYMOUS_CODING LOW SILENT 0.27436 0.27440 0.16623 None None None None None None AHNAK2|0.000253171|99.62%
View rbna2s annoted 14 rs12890949
dbSNP Clinvar
105415352 64.0 G C . 1/1 0 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00519 0.00519 0.05832 1.00 0.00 None None None None None None AHNAK2|0.000253171|99.62%
View rbna2s annoted 14 rs59107644
dbSNP Clinvar
105415299 55.0 A G . 1/1 0 SYNONYMOUS_CODING LOW SILENT 0.19109 0.19110 0.09321 None None None None None None AHNAK2|0.000253171|99.62%
View rbna2s annoted 14 rs561363215
dbSNP Clinvar
105415248 30.0 T C . 0/1 0 SYNONYMOUS_CODING LOW SILENT 0.04093 0.04093 None None None None None None AHNAK2|0.000253171|99.62%
View rbna2s annoted 14 rs55791176
dbSNP Clinvar
105418344 74.0 T G . 1/1 0 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00180 0.00180 0.48995 1.00 0.00 None None None None None None AHNAK2|0.000253171|99.62%
View rbna2s annoted 14 rs2819441
dbSNP Clinvar
105418275 62.0 T C . 1/1 0 SYNONYMOUS_CODING LOW SILENT 0.00938 0.02336 0.24517 None None None None None None AHNAK2|0.000253171|99.62%
View rbna2s annoted 14 rs10134675
dbSNP Clinvar
105415229 52.0 T C . 1/1 0 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00140 0.28230 1.00 0.01 None None None None None None AHNAK2|0.000253171|99.62%
View rbna2s annoted 14 rs142198219
dbSNP Clinvar
105415224 50.0 A G . 0/1 0 SYNONYMOUS_CODING LOW SILENT 0.02855 0.02855 0.01536 None None None None None None AHNAK2|0.000253171|99.62%
View rbna2s annoted 14 rs10145566
dbSNP Clinvar
105415200 39.0 G C . 0/1 0 SYNONYMOUS_CODING LOW SILENT 0.28994 0.28990 0.37128 None None None None None None AHNAK2|0.000253171|99.62%
View rbna2s annoted 14 rs10145032
dbSNP Clinvar
105414810 65.0 C G . 1/1 0 SYNONYMOUS_CODING LOW SILENT 0.53235 0.53230 0.43901 None None None None None None AHNAK2|0.000253171|99.62%
View rbna2s annoted 14 rs55650155
dbSNP Clinvar
105418264 62.0 G A . 1/1 0 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.38299 0.38300 0.42877 1.00 0.00 None None None None None None AHNAK2|0.000253171|99.62%
View rbna2s annoted 14 rs2582513
dbSNP Clinvar
105414790 63.0 A G . 1/1 0 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.56310 0.56310 0.41529 1.00 0.00 None None None None None None AHNAK2|0.000253171|99.62%
View rbna2s annoted 14 rs72702027
dbSNP Clinvar
105414629 63.0 G A . 1/1 0 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.53195 0.53190 0.43679 0.07 0.71 None None None None None None AHNAK2|0.000253171|99.62%
View rbna2s annoted 14 rs56330864
dbSNP Clinvar
105418260 62.0 T A . 1/1 0 SYNONYMOUS_CODING LOW SILENT 0.00779 0.00779 0.41918 None None None None None None AHNAK2|0.000253171|99.62%
View rbna2s annoted 14 rs2819429
dbSNP Clinvar
105414280 62.0 T G . 1/1 0 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.84325 0.84330 0.10362 0.04 0.17 None None None None None None AHNAK2|0.000253171|99.62%
View rbna2s annoted 14 rs60106058
dbSNP Clinvar
105414252 58.0 C T . 1/1 0 SYNONYMOUS_CODING LOW SILENT 0.45487 0.45490 0.47157 None None None None None None AHNAK2|0.000253171|99.62%
View rbna2s annoted 14 rs11848564
dbSNP Clinvar
105413790 59.0 G A . 1/1 0 SYNONYMOUS_CODING LOW SILENT 0.35044 0.35040 0.48287 None None None None None None AHNAK2|0.000253171|99.62%
View rbna2s annoted 14 rs2278607
dbSNP Clinvar
105420215 50.0 T C . 0/1 0 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.20188 0.20190 0.11069 1.00 0.01 None None None None None None AHNAK2|0.000253171|99.62%
View rbna2s annoted 14 rs141600524
dbSNP Clinvar
105418155 76.0 G C . 1/1 0 SYNONYMOUS_CODING LOW SILENT 0.08799 None None None None None None AHNAK2|0.000253171|99.62%
View rbna2s annoted 14 rs60754080
dbSNP Clinvar
105414238 59.0 C A . 1/1 0 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.48023 0.48020 0.44926 1.00 0.00 None None None None None None AHNAK2|0.000253171|99.62%
View rbna2s annoted 14 rs144318365
dbSNP Clinvar
105413657 55.0 G T . 0/1 0 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00779 0.00779 0.00791 0.32 0.99 None None None None None None AHNAK2|0.000253171|99.62%
View rbna2s annoted 14 rs78447535
dbSNP Clinvar
105418194 81.0 A G . 1/1 0 SYNONYMOUS_CODING LOW SILENT 0.25240 0.25240 None None None None None None AHNAK2|0.000253171|99.62%
View rbna2s annoted 14 rs138287800
dbSNP Clinvar
105413325 47.0 C T . 0/1 0 SYNONYMOUS_CODING LOW SILENT 0.03494 0.03494 0.02175 None None None None None None AHNAK2|0.000253171|99.62%
View rbna2s annoted 14 rs147978925
dbSNP Clinvar
105418149 70.0 A T . 1/1 0 SYNONYMOUS_CODING LOW SILENT 0.23363 0.23360 None None None None None None AHNAK2|0.000253171|99.62%
View rbna2s annoted 14 rs55797226
dbSNP Clinvar
105413223 71.0 A G . 0/1 0 SYNONYMOUS_CODING LOW SILENT 0.52716 0.52720 0.44573 None None None None None None AHNAK2|0.000253171|99.62%
View rbna2s annoted 14 rs2582514
dbSNP Clinvar
105413204 60.0 G T . 1/1 0 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.56709 0.56710 0.40549 1.00 0.00 None None None None None None AHNAK2|0.000253171|99.62%
View rbna2s annoted 14 rs3000771
dbSNP Clinvar
105412561 60.0 C T . 1/1 0 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.03 None None None None None None AHNAK2|0.000253171|99.62%
View rbna2s annoted 14 rs12436986
dbSNP Clinvar
105412554 60.0 T G . 1/1 0 SYNONYMOUS_CODING LOW SILENT 0.51498 0.51500 0.29044 None None None None None None AHNAK2|0.000253171|99.62%
View rbna2s annoted 14 rs78116894
dbSNP Clinvar
105418166 66.0 T C . 1/1 0 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.29113 0.29110 0.42 0.06 None None None None None None AHNAK2|0.000253171|99.62%
View rbna2s annoted 14 rs201187390
dbSNP Clinvar
105418119 56.0 G C . 1/1 0 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.19229 0.19230 0.44 0.00 None None None None None None AHNAK2|0.000253171|99.62%
View rbna2s annoted 14 rs12433815
dbSNP Clinvar
105412542 55.0 A G . 1/1 0 SYNONYMOUS_CODING LOW SILENT 0.51757 0.51760 0.26062 None None None None None None AHNAK2|0.000253171|99.62%
View rbna2s annoted 14 rs12433837
dbSNP Clinvar
105412541 50.0 C T . 1/1 0 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.51857 0.51860 0.26354 1.00 0.12 None None None None None None AHNAK2|0.000253171|99.62%
View rbna2s annoted 14 rs191646265
dbSNP Clinvar
105418110 56.0 C T . 1/1 0 SYNONYMOUS_CODING LOW SILENT 0.15655 0.15650 None None None None None None AHNAK2|0.000253171|99.62%
View rbna2s annoted 14 rs11160826
dbSNP Clinvar
105412260 53.0 G C . 1/1 0 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01078 0.22446 0.68 0.18 None None None None None None AHNAK2|0.000253171|99.62%
View rbna2s annoted 14 rs2819426
dbSNP Clinvar
105412259 56.0 G C . 1/1 0 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.43291 0.43290 0.28984 1.00 0.01 None None None None None None AHNAK2|0.000253171|99.62%
View rbna2s annoted 14 rs552414467
dbSNP Clinvar
105418098 41.0 C T . 1/1 0 SYNONYMOUS_CODING LOW SILENT 0.16554 0.16550 None None None None None None AHNAK2|0.000253171|99.62%
View rbna2s annoted 14 rs77154428
dbSNP Clinvar
105412066 35.0 C T . 0/1 0 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00140 0.00 0.05 None None None None None None AHNAK2|0.000253171|99.62%
View rbna2s annoted 14 rs28564728
dbSNP Clinvar
105412005 26.0 A G . 0/1 0 SYNONYMOUS_CODING LOW SILENT 0.37280 0.37280 0.27296 None None None None None None AHNAK2|0.000253171|99.62%
View rbna2s annoted 14 rs756499277
dbSNP Clinvar
105417341 39.0 C T . 1/1 0 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.02 0.03 None None None None None None AHNAK2|0.000253171|99.62%
View rbna2s annoted 14 rs10438247
dbSNP Clinvar
105411781 53.0 G A . 1/1 0 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.53854 0.53850 0.42047 0.00 0.91 None None None None None None AHNAK2|0.000253171|99.62%
View rbna2s annoted 14 rs4264326
dbSNP Clinvar
105411700 61.0 A G . 1/1 0 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.56350 0.56350 0.40369 1.00 0.00 None None None None None None AHNAK2|0.000253171|99.62%
View rbna2s annoted 14 rs77111827
dbSNP Clinvar
105417243 50.0 T C . 1/1 0 SYNONYMOUS_CODING LOW SILENT 0.01338 0.24120 None None None None None None AHNAK2|0.000253171|99.62%
View rbna2s annoted 14 rs2894635
dbSNP Clinvar
105417225 52.0 C G . 0/1 0 SYNONYMOUS_CODING LOW SILENT 0.24281 0.24280 None None None None None None AHNAK2|0.000253171|99.62%
View rbna2s annoted 14 rs28380382
dbSNP Clinvar
105410827 65.0 C T . 1/1 0 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.55252 0.55250 0.41489 0.06 0.16 None None None None None None AHNAK2|0.000253171|99.62%
View rbna2s annoted 14 rs2819424
dbSNP Clinvar
105410775 65.0 A G . 1/1 0 SYNONYMOUS_CODING LOW SILENT 0.58586 0.58590 0.39270 None None None None None None AHNAK2|0.000253171|99.62%
View rbna2s annoted 14 rs11160825
dbSNP Clinvar
105410411 63.0 C T . 1/1 0 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.54972 0.54970 0.41916 0.10 0.13 None None None None None None AHNAK2|0.000253171|99.62%
View rbna2s annoted 14 rs10438246
dbSNP Clinvar
105410183 58.0 T C . 1/1 0 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.55591 0.55590 0.41195 1.00 0.00 None None None None None None AHNAK2|0.000253171|99.62%
View rbna2s annoted 14 rs2013274
dbSNP Clinvar
105417222 44.0 C T . 0/1 0 SYNONYMOUS_CODING LOW SILENT 0.22684 0.22680 0.17072 None None None None None None AHNAK2|0.000253171|99.62%
View rbna2s annoted 14 rs10152073
dbSNP Clinvar
105409959 54.0 G T . 1/1 0 SYNONYMOUS_CODING LOW SILENT 0.55431 0.55430 0.41478 None None None None None None AHNAK2|0.000253171|99.62%
View rbna2s annoted 14 rs10141053
dbSNP Clinvar
105409907 64.0 T C . 0/1 0 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.24581 0.24580 0.37089 1.00 0.00 None None None None None None AHNAK2|0.000253171|99.62%
View rbna2s annoted 14 rs2013445
dbSNP Clinvar
105417147 49.0 A G . 0/1 0 SYNONYMOUS_CODING LOW SILENT 0.42911 0.42910 0.46916 None None None None None None AHNAK2|0.000253171|99.62%
View rbna2s annoted 14 rs139413141
dbSNP Clinvar
105409355 48.0 C T . 0/1 0 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00779 0.00779 0.00793 0.12 1.00 None None None None None None AHNAK2|0.000253171|99.62%