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Genes:
AARS, ABAT, ABCA3, ABCC1, ABCC11, ABCC12, ABCC6, AC004381.6, ACD, ACSF3, ACSM1, ACSM2A, ACSM2B, ADAD2, ADAMTS18, ADAT1, ADCY7, ADCY9, ANKRD11, ANKS3, APOBR, ARHGDIG, ARMC5, ATF7IP2, ATMIN, ATP2A1, ATP2C2, ATXN1L, ATXN2L, AXIN1, BAIAP3, BANP, BBS2, BCAR1, BCMO1, BFAR, BRICD5, C16orf45, C16orf46, C16orf71, C16orf89, C16orf93, C16orf95, CACNA1H, CAPN15, CARHSP1, CBFA2T3, CCDC101, CCDC102A, CCDC135, CCDC154, CCDC64B, CCDC78, CCDC79, CCL17, CCL22, CCP110, CDH11, CDH13, CDH3, CDH5, CDH8, CDIP1, CDT1, CDYL2, CENPBD1, CENPN, CES1, CES3, CES5A, CFDP1, CHD9, CHST5, CHTF18, CIITA, CLCN7, CLDN6, CLEC16A, CLEC3A, CLUAP1, CMTR2, CNGB1, CNOT1, CNTNAP4, COG4, COG7, COQ7, CORO1A, CORO7-PAM16, COX4I1, CPNE2, CRAMP1L, CRISPLD2, CTD-2600O9.1, CTD-3088G3.8, CTRB2, CTU2, CYBA, DCTN5, DCUN1D3, DDX19A, DDX28, DECR2, DEF8, DHODH, DHX38, DNAAF1, DNAH3, DNAJA3, DOC2A, DPEP1, DPEP2, DYNLRB2, E4F1, EARS2, EEF2K, ERI2, FA2H, FAHD1, FAM173A, FANCA, FTO, FUK, GAS8, GFOD2, GGA2, GLG1, GLIS2, GLYR1, GNAO1, GP2, GPR56, GPR97, GPRC5B, GRIN2A, GSE1, GSG1L, GSPT1, GTF3C1, HAGHL, HAS3, HEATR3, HS3ST2, HS3ST4, HS3ST6, HSD3B7, HSDL1, HYDIN, IFT140, IGFALS, IL27, IL32, IL34, IL4R, IQCK, IRX3, IRX5, ITGAM, ITGAX, JPH3, KAT8, KATNB1, KCNG4, KIAA0513, KIAA0556, KIF22, KIFC3, KLHDC4, KLHL36, KREMEN2, LITAF, LMF1, LPCAT2, LRRC29, MAP1LC3B, MAPK8IP3, MARVELD3, MBTPS1, MC1R, MEFV, MEIOB, METTL22, MKL2, MMP2, MON1B, MPHOSPH6, MRPL28, MSLN, MSLNL, MT1A, MT4, MTHFSD, MYH11, MYLK3, NAA60, NAE1, NARFL, NDRG4, NLRC3, NLRC5, NME3, NME4, NOD2, NPW, NSMCE1, NUBP2, NUDT16L1, NUP93, OR1F1, OR2C1, ORAI3, OSGIN1, PDIA2, PDILT, PDXDC1, PIEZO1, PIGQ, PKD1L2, PLCG2, PMFBP1, POLR2C, POLR3K, PPL, PRDM7, PRM1, PRM3, PRR25, PRRT2, PRSS21, PRSS36, PRSS53, PTX4, QPRT, RAB11FIP3, RBBP6, RFWD3, RGS11, RHBDF1, RHOT2, RNF40, SALL1, SBK1, SCNN1B, SCNN1G, SDR42E2, SEC14L5, SEPT1, SETD1A, SETD6, SEZ6L2, SHISA9, SLC12A3, SLC5A11, SLC6A2, SLC7A6OS, SLC9A3R2, SLX4, SMG1, SMPD3, SOX8, SPATA2L, SPN, SPSB3, SRCAP, SRL, SRRM2, SSTR5, STX1B, SYCE1L, TAF1C, TAOK2, TBC1D10B, TBX6, TCEB2, TEKT5, TELO2, TEPP, THUMPD1, TLDC1, TMC5, TMC7, TMEM159, TMEM204, TMEM8A, TNFRSF17, TNP2, TNRC6A, TOX3, TPSG1, TRAP1, TRIM72, TSC2, TUBB3, UBE2I, UBFD1, UMOD, UNKL, USB1, USP10, USP31, VASN, VPS35, VPS9D1, VWA3A, WDR24, WDR59, WDR90, WFIKKN1, WWOX, WWP2, XPO6, XYLT1, ZC3H18, ZC3H7A, ZCCHC14, ZDHHC7, ZFHX3, ZFP90, ZFPM1, ZG16, ZNF174, ZNF19, ZNF205, ZNF267, ZNF319, ZNF469, ZNF48, ZNF500, ZNF597, ZNF598, ZNF646, ZNF668, ZNF720, ZNF768, ZNF778, ZP2, ZSCAN10, ZSCAN32,

Genes at Omim

AARS, ABAT, ABCA3, ABCC11, ABCC6, ACD, ACSF3, ADAMTS18, ANKRD11, ARMC5, ATP2A1, AXIN1, BBS2, CACNA1H, CCDC78, CDH11, CDH3, CDT1, CES1, CIITA, CLCN7, CNGB1, COG4, COG7, COQ7, CORO1A, CTU2, CYBA, DHODH, DHX38, DNAAF1, EARS2, FA2H, FANCA, FTO, GAS8, GLIS2, GNAO1, GRIN2A, HSD3B7, HYDIN, IFT140, IGFALS, IL4R, IRX5, JPH3, KATNB1, KIF22, LITAF, LMF1, MC1R, MEFV, MEIOB, MMP2, MYH11, NOD2, NUP93, PIEZO1, PLCG2, PMFBP1, PRRT2, RFWD3, SALL1, SCNN1B, SCNN1G, SLC12A3, SLC6A2, SLX4, SRCAP, SSTR5, STX1B, TBX6, TELO2, TNRC6A, TSC2, TUBB3, UMOD, USB1, VPS35, WWOX, XYLT1, ZFHX3, ZNF469, ZP2,
AARS Charcot-Marie-Tooth disease, axonal, type 2N, 613287 (3)
Epileptic encephalopathy, early infantile, 29, 616339 (3)
ABAT GABA-transaminase deficiency, 613163 (3)
ABCA3 Surfactant metabolism dysfunction, pulmonary, 3, 610921 (3)
ABCC11 [Axillary odor, variation in], 117800 (3)
[Colostrum secretion, variation in], 117800 (3)
[Earwax, wet/dry], 117800 (3)
ABCC6 Arterial calcification, generalized, of infancy, 2, 614473 (3)
Pseudoxanthoma elasticum, 264800 (3)
Pseudoxanthoma elasticum, forme fruste, 177850 (3)
ACD ?Dyskeratosis congenita, autosomal dominant 6, 616553 (3)
?Dyskeratosis congenita, autosomal recessive 7, 616553 (3)
ACSF3 Combined malonic and methylmalonic aciduria, 614265 (3)
ADAMTS18 Microcornea, myopic chorioretinal atrophy, and telecanthus, 615458 (3)
ANKRD11 KBG syndrome, 148050 (3)
ARMC5 ACTH-independent macronodular adrenal hyperplasia 2, 615954 (3)
ATP2A1 Brody myopathy, 601003 (3)
AXIN1 Hepatocellular carcinoma, somatic, 114550 (3)
?Caudal duplication anomaly, 607864 (3)
BBS2 Bardet-Biedl syndrome 2, 615981 (3)
Retinitis pigmentosa 74, 616562 (3)
CACNA1H Hyperaldosteronism, familial, type IV, 617027 (3)
{Epilepsy, childhood absence, susceptibility to, 6}, 611942 (3)
{Epilepsy, idiopathic generalized, susceptibility to, 6}, 611942 (3)
CCDC78 ?Centronuclear myopathy 4, 614807 (3)
CDH11 Elsahy-Waters syndrome, 211380 (3)
CDH3 Hypotrichosis, congenital, with juvenile macular dystrophy, 601553 (3)
Ectodermal dysplasia, ectrodactyly, and macular dystrophy, 225280 (3)
CDT1 Meier-Gorlin syndrome 4, 613804 (3)
CES1 Drug metabolism, altered, CES1-related, 618057 (3)
CIITA Bare lymphocyte syndrome, type II, complementation group A, 209920 (3)
{Rheumatoid arthritis, susceptibility to}, 180300 (3)
CLCN7 Osteopetrosis, autosomal dominant 2, 166600 (3)
Osteopetrosis, autosomal recessive 4, 611490 (3)
CNGB1 Retinitis pigmentosa 45, 613767 (3)
COG4 Congenital disorder of glycosylation, type IIj, 613489 (3)
Saul-Wilson syndrome, 618150 (3)
COG7 Congenital disorder of glycosylation, type IIe, 608779 (3)
COQ7 ?Coenzyme Q10 deficiency, primary, 8, 616733 (3)
CORO1A Immunodeficiency 8, 615401 (3)
CTU2 Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, 618142 (3)
CYBA Chronic granulomatous disease, autosomal, due to deficiency of CYBA, 233690 (3)
DHODH Miller syndrome, 263750 (3)
DHX38 Retinitis pigmentosa 84, 618220 (3)
DNAAF1 Ciliary dyskinesia, primary, 13, 613193 (3)
EARS2 Combined oxidative phosphorylation deficiency 12, 614924 (3)
FA2H Spastic paraplegia 35, autosomal recessive, 612319 (3)
FANCA Fanconi anemia, complementation group A, 227650 (3)
FTO Growth retardation, developmental delay, facial dysmorphism, 612938 (3)
{Obesity, susceptibility to, BMIQ14}, 612460 (3)
GAS8 Ciliary dyskinesia, primary, 33, 616726 (3)
GLIS2 Nephronophthisis 7, 611498 (3)
GNAO1 Epileptic encephalopathy, early infantile, 17, 615473 (3)
Neurodevelopmental disorder with involuntary movements, 617493 (3)
GRIN2A Epilepsy, focal, with speech disorder and with or without mental retardation, 245570 (3)
HSD3B7 Bile acid synthesis defect, congenital, 1, 607765 (3)
HYDIN Ciliary dyskinesia, primary, 5, 608647 (3)
IFT140 Retinitis pigmentosa 80, 617781 (3)
Short-rib thoracic dysplasia 9 with or without polydactyly, 266920 (3)
IGFALS Acid-labile subunit, deficiency of, 615961 (3)
IL4R {AIDS, slow progression to}, 609423 (3)
{Atopy, susceptibility to}, 147050 (3)
IRX5 Hamamy syndrome, 611174 (3)
JPH3 Huntington disease-like 2, 606438 (3)
KATNB1 Lissencephaly 6, with microcephaly, 616212 (3)
KIF22 Spondyloepimetaphyseal dysplasia with joint laxity, type 2, 603546 (3)
LITAF Charcot-Marie-Tooth disease, type 1C, 601098 (3)
LMF1 Lipase deficiency, combined, 246650 (3)
MC1R {Melanoma, cutaneous malignant, 5}, 613099 (3)
{UV-induced skin damage}, 266300 (3)
[Analgesia from kappa-opioid receptor agonist, female-specific], 613098 (3)
[Skin/hair/eye pigmentation 2, blond hair/fair skin], 266300 (3)
[Skin/hair/eye pigmentation 2, red hair/fair skin], 266300 (3)
{Albinism, oculocutaneous, type II, modifier of}, 203200 (3)
MEFV Familial Mediterranean fever, AD, 134610 (3)
Familial Mediterranean fever, AR, 249100 (3)
MEIOB ?Spermatogenic failure 22, 617706 (3)
MMP2 Multicentric osteolysis, nodulosis, and arthropathy, 259600 (3)
MYH11 Aortic aneurysm, familial thoracic 4, 132900 (3)
NOD2 Blau syndrome, 186580 (3)
{Inflammatory bowel disease 1, Crohn disease}, 266600 (3)
{Psoriatic arthritis, susceptibility to}, 607507 (2)
{Yao syndrome}, 617321 (3)
NUP93 Nephrotic syndrome, type 12, 616892 (3)
PIEZO1 Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380 (3)
Lymphatic malformation 6, 616843 (3)
PLCG2 Familial cold autoinflammatory syndrome 3, 614468 (3)
Autoinflammation, antibody deficiency, and immune dysregulation syndrome, 614878 (3)
PMFBP1 Spermatogenic failure 31, 618112 (3)
PRRT2 Convulsions, familial infantile, with paroxysmal choreoathetosis, 602066 (3)
Episodic kinesigenic dyskinesia 1, 128200 (3)
Seizures, benign familial infantile, 2, 605751 (3)
RFWD3 ?Fanconi anemia, complementation group W, 617784 (3)
SALL1 Townes-Brocks branchiootorenal-like syndrome, 107480 (3)
Townes-Brocks syndrome 1, 107480 (3)
SCNN1B Bronchiectasis with or without elevated sweat chloride 1, 211400 (3)
Liddle syndrome 1, 177200 (3)
Pseudohypoaldosteronism, type I, 264350 (3)
SCNN1G Bronchiectasis with or without elevated sweat chloride 3, 613071 (3)
Liddle syndrome 2, 618114 (3)
Pseudohypoaldosteronism, type I, 264350 (3)
SLC12A3 Gitelman syndrome, 263800 (3)
SLC6A2 ?Orthostatic intolerance, 604715 (3)
SLX4 Fanconi anemia, complementation group P, 613951 (3)
SRCAP Floating-Harbor syndrome, 136140 (3)
SSTR5 Somatostatin analog, resistance to (3)
STX1B Generalized epilepsy with febrile seizures plus, type 9, 616172 (3)
TBX6 Spondylocostal dysostosis 5, 122600 (3)
TELO2 You-Hoover-Fong syndrome, 616954 (3)
TNRC6A ?Epilepsy, familial adult myoclonic, 6, 618074 (3)
TSC2 Lymphangioleiomyomatosis, somatic, 606690 (3)
?Focal cortical dysplasia, type II, somatic, 607341 (3)
Tuberous sclerosis-2, 613254 (3)
TUBB3 Fibrosis of extraocular muscles, congenital, 3A, 600638 (3)
Cortical dysplasia, complex, with other brain malformations 1, 614039 (3)
UMOD Glomerulocystic kidney disease with hyperuricemia and isosthenuria, 609886 (3)
Hyperuricemic nephropathy, familial juvenile 1, 162000 (3)
Medullary cystic kidney disease 2, 603860 (3)
USB1 Poikiloderma with neutropenia, 604173 (3)
VPS35 {Parkinson disease 17}, 614203 (3)
WWOX Epileptic encephalopathy, early infantile, 28, 616211 (3)
Esophageal squamous cell carcinoma, somatic, 133239 (3)
Spinocerebellar ataxia, autosomal recessive 12, 614322 (3)
XYLT1 Desbuquois dysplasia 2, 615777 (3)
{Pseudoxanthoma elasticum, modifier of severity of}, 264800 (3)
ZFHX3 Prostate cancer, somatic, 176807 (3)
ZNF469 Brittle cornea syndrome 1, 229200 (3)
ZP2 Oocyte maturation defect 6, 618353 (3)

Genes at Clinical Genomics Database

AARS, ABAT, ABCA3, ABCC11, ABCC6, ACD, ACSF3, ADAMTS18, ANKRD11, ARMC5, ATP2A1, AXIN1, BBS2, CDH3, CDT1, CES1, CIITA, CLCN7, CNGB1, COG4, COG7, COQ7, CORO1A, CYBA, DHODH, DNAAF1, EARS2, FA2H, FANCA, FTO, GAS8, GLIS2, GNAO1, GRIN2A, HSD3B7, IFT140, IGFALS, JPH3, KATNB1, KIAA0556, KIF22, LITAF, LMF1, MC1R, MEFV, MMP2, MYH11, NOD2, PIEZO1, PLCG2, PRRT2, SALL1, SCNN1B, SCNN1G, SLC12A3, SLC6A2, SLX4, SRCAP, SSTR5, STX1B, TBX6, TRAP1, TSC2, TUBB3, UMOD, USB1, VPS35, WWOX, XYLT1, ZNF469,
AARS Charcot-Marie-Tooth disease, axonal, type 2N
Epileptic encephalopathy, early infantile, 29
ABAT GABA-transaminase deficiency
ABCA3 Surfactant metabolism dysfunction, pulmonary, 3
Interstitial lung disease
ABCC11 Apocrine gland secretion, variation in
ABCC6 Pseudoxanthoma elasticum
ACD Dyskeratosis congenita, autosomal dominant 6
Dyskeratosis congenita, autosomal recessive 7
ACSF3 Combined malonic and methylmalonic aciduria
ADAMTS18 Knobloch syndrome 2
Microcornea, myopic chorioretinal atrophy, and telecanthus
Retinal dystrophy, early onset, autosomal recessive
ANKRD11 KBG syndrome
ARMC5 ACTH-independent macronodular adrenal hyperplasia 2
ATP2A1 Brody myopathy
AXIN1 Caudal duplication anomaly
BBS2 Bardet-Biedl syndrome 2
Retinitis pigmentosa 74
CDH3 Hypotrichosis, congenital, with juvenile macular dystrophy
Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome
CDT1 Meier-Gorlin syndrome 4
CES1 Carboxylesterase 1 deficiency
CIITA Bare lymphocyte syndrome, type II
CLCN7 Osteopetrosis, autosomal dominant 2
Osteopetrosis, autosomal recessive 4
CNGB1 Retinitis pigmentosa 45
COG4 Congenital disorder of glycosylation, type IIj
COG7 Congenital disorder of glycosylation, type IIe
COQ7 Coenzyme Q10 deficiency, primary 8
CORO1A Immunodeficiency 8
CYBA Chronic granulomatous disease, autosomal, due to deficiency of CYBA
DHODH Postaxial acrofacial dysostosis (Miller syndrome)
DNAAF1 Ciliary dyskinesia, primary, 13
EARS2 Combined oxidative phosphorylation deficiency 12
FA2H Spastic paraplegia 35, autosomal recessive
FANCA Fanconi anemia, complementation group A
FTO Growth retardation, developmental delay, and facial dysmorphism
GAS8 Ciliary dyskinesia, primary, 33
GLIS2 Nephronophthisis 7
GNAO1 Epileptic encephalopathy, early infantile, 17
GRIN2A Epilepsy, focal, with speech disorder and with or without mental retardation
HSD3B7 Bile acid synthesis defect, congenital, 1
IFT140 Short-rib thoracic dysplasia 9 with or without polydactyly
IGFALS Insulin-like growth factor-binding protein, acid-labile subunit, deficiency of
JPH3 Huntington disease-like 2
KATNB1 Lissencephaly 6, with microcephaly
KIAA0556 Joubert syndrome 26
KIF22 Spondyloepimetaphyseal dysplasia with joint laxity, type 2
LITAF Charcot-Marie-Tooth disease, type 1C
LMF1 Combined lipase deficiency
MC1R Increased analgesia from kappa-opioid receptor agonist, female specific
MEFV Familial Mediterranean fever
MMP2 Torg-Winchester syndrome
Multicentric osteolysis, nodulosis, and arthropathy
MYH11 Aortic aneurysm, familial thoracic 4
NOD2 Blau syndrome
Sarcoidosis, early-onset
PIEZO1 Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
PLCG2 Familial cold autoinflammatory syndrome 3 (PLAID)
Autoinflammation, antibody deficiency, and immune dysregulation syndrome (APLAID)
PRRT2 Episodic kinesigenic dyskinesia 1
SALL1 Townes-Brocks syndrome
SCNN1B Pseudohypoaldosteronism, type I
Liddle syndrome
Bronchiectasis with or without elevated sweat chloride 3
SCNN1G Pseudohypoaldosteronism, type I
Liddle syndrome
Bronchiectasis with or without elevated sweat chloride 3
SLC12A3 Gitelman syndrome
SLC6A2 Orthostatic intolerance
SLX4 Fanconi anemia type P
SRCAP Floating-Harbor syndrome
SSTR5 Resistance to somatostatin treatment
STX1B Generalized epilepsy with febrile seizures plus, type 9
TBX6 Spondylocostal dysostosis 5
TRAP1 Congenital abnormalities of the kidney and urinary tract
VACTERL association
TSC2 Tuberous sclerosis 2
Lymphangioleiomyomatosis
TUBB3 Cortical dysplasia, complex, with other brain malformations 1
Fibrosis of extraocular muscles, congenital, 3A
UMOD Familial juvenile hyperuricemic nephropathy
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
USB1 Poikiloderma with neutropenia
VPS35 Parkinson disease 17
WWOX Epileptic encephalopathy, early infantile, 28
Spinocerebellar ataxia, autosomal recessive 12
XYLT1 Desbuquois dysplasia 2
ZNF469 Brittle cornea syndrome 1

Genes at HGMD

Summary

Number of Variants: 1836
Number of Genes: 338

Export to: CSV

AARS

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 dxc01 snp 16 rs4081753
dbSNP Clinvar
70287177 1016.77 A G PASS 1/1 39 SYNONYMOUS_CODING LOW None 0.88119 0.88120 0.15082 None None None None None None AARS|0.341353977|24.74%
View dxc01 snp 16 rs2070203
dbSNP Clinvar
70303580 1137.77 G A PASS 1/1 41 SYNONYMOUS_CODING LOW None 0.42532 0.42530 0.49077 None None None None None None AARS|0.341353977|24.74%

ABAT

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 dxc01 snp 16 rs1731017
dbSNP Clinvar
8839954 938.77 A G PASS 1/1 34 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.50080 0.50080 0.48599 0.61 0.00 None None None None None None ABAT|0.163825558|41.04%

ABCA3

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 dxc01 snp 16 rs149532
dbSNP Clinvar
2331430 1530.77 A G PASS 1/1 53 SYNONYMOUS_CODING LOW None 0.90096 0.90100 0.13058 None None None None None None ABCA3|0.043607901|64.64%

ABCC1

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 dxc01 snp 16 rs35605
dbSNP Clinvar
16162019 223.77 T C PASS 0/1 32 SYNONYMOUS_CODING LOW None 0.78654 0.78650 0.15359 None None None None None None ABCC1|0.091540799|52.94%
View dxc01 snp 16 rs2230671
dbSNP Clinvar
16228242 311.77 G A PASS 0/1 28 SYNONYMOUS_CODING LOW None 0.17512 0.17510 0.21715 None None None None None None ABCC1|0.091540799|52.94%

ABCC11

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 dxc01 snp 16 rs12443685
dbSNP Clinvar
48226479 307.77 C T PASS 0/1 28 SYNONYMOUS_CODING LOW None 0.13638 0.13640 0.14821 None None None None None None ABCC11|0.006558104|83.99%
View dxc01 snp 16 rs16945916
dbSNP Clinvar
48201432 436.77 T C PASS 0/1 34 NON_SYNONYMOUS_CODING MODERATE None 0.17013 0.17010 0.22581 1.00 0.00 None None None None None None ABCC11|0.006558104|83.99%
View dxc01 snp 16 rs11866251
dbSNP Clinvar
48227862 300.77 G A PASS 0/1 32 SYNONYMOUS_CODING LOW None 0.13878 0.13880 0.18766 None None None None None None ABCC11|0.006558104|83.99%

ABCC12

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 dxc01 snp 16 rs16945874
dbSNP Clinvar
48175235 241.77 G T PASS 0/1 46 NON_SYNONYMOUS_CODING MODERATE None 0.14537 0.14540 0.16651 0.75 0.00 None None None None None None ABCC12|0.070949421|57.23%
View dxc01 snp 16 rs34135219
dbSNP Clinvar
48145742 314.77 T A PASS 0/1 41 NON_SYNONYMOUS_CODING MODERATE None 0.04972 0.04972 0.04146 0.01 0.07 None None None None None None ABCC12|0.070949421|57.23%

ABCC6

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 dxc01 snp 16 rs8058696
dbSNP Clinvar
16278869 682.77 G C PASS 0/1 32 SYNONYMOUS_CODING LOW None 0.33267 0.33270 0.45306 None None None None None None ABCC6|0.022547171|72.9%
View dxc01 snp 16 rs9940825
dbSNP Clinvar
16291971 107.77 C T PASS 0/1 17 SYNONYMOUS_CODING LOW None 0.23223 0.23220 0.30603 None None None None None None ABCC6|0.022547171|72.9%
View dxc01 snp 16 rs9930886
dbSNP Clinvar
16291983 104.77 A G PASS 0/1 13 SYNONYMOUS_CODING LOW None 0.28275 0.28270 0.31330 None None None None None None ABCC6|0.022547171|72.9%
View dxc01 snp 16 rs12931472
dbSNP Clinvar
16281007 165.84 A G PASS 1/1 6 NON_SYNONYMOUS_CODING MODERATE None 0.33946 0.33950 0.46398 0.77 0.00 None None None None None None ABCC6|0.022547171|72.9%
View dxc01 snp 16 rs2856585
dbSNP Clinvar
16263663 162.77 G A PASS 0/1 27 SYNONYMOUS_CODING LOW None 0.12400 0.12400 0.07829 None None None None None None ABCC6|0.022547171|72.9%
View dxc01 snp 16 rs6416668
dbSNP Clinvar
16271357 969.77 T C PASS 1/1 36 NON_SYNONYMOUS_CODING MODERATE None 0.96426 0.96430 0.03556 0.29 0.00 None None None None None None ABCC6|0.022547171|72.9%
View dxc01 snp 16 rs7500834
dbSNP Clinvar
16272670 1263.77 T C PASS 1/1 47 SYNONYMOUS_CODING LOW None 0.96446 0.96450 0.03548 None None None None None None ABCC6|0.022547171|72.9%
View dxc01 snp 16 rs8058694
dbSNP Clinvar
16278863 712.77 G T PASS 0/1 34 NON_SYNONYMOUS_CODING MODERATE None 0.33267 0.33270 0.45306 0.59 0.00 None None None None None None ABCC6|0.022547171|72.9%

AC004381.6

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View dxc01 snp 16 rs9929443
dbSNP Clinvar
20855309 1195.77 A G PASS 1/1 42 SYNONYMOUS_CODING LOW None 0.82428 0.82430 0.16751 None None None None None None ERI2|0.119712352|47.5%

ACD

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View dxc01 snp 16 rs6979
dbSNP Clinvar
67691668 278.77 A G PASS 0/1 34 NON_SYNONYMOUS_CODING MODERATE None 0.57149 0.57150 0.37719 1.00 0.00 None None None None None None ACD|0.009649667|81.12%

ACSF3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View dxc01 snp 16 rs7201122
dbSNP Clinvar
89167140 213.77 G C PASS 0/1 34 SYNONYMOUS_CODING LOW None 0.84924 0.84920 0.08482 None None None None None None ACSF3|0.012049699|79.2%
View dxc01 snp 16 rs6500528
dbSNP Clinvar
89167443 363.77 T C PASS 0/1 48 SYNONYMOUS_CODING LOW None 0.61981 0.61980 0.27455 None None None None None None ACSF3|0.012049699|79.2%
View dxc01 snp 16 rs6500529
dbSNP Clinvar
89167458 342.77 C A PASS 0/1 49 SYNONYMOUS_CODING LOW None 0.61921 0.61920 None None None None None None ACSF3|0.012049699|79.2%
View dxc01 snp 16 rs6500526
dbSNP Clinvar
89167395 639.77 C T PASS 0/1 44 SYNONYMOUS_CODING LOW None 0.61901 0.61900 0.27585 None None None None None None ACSF3|0.012049699|79.2%
View dxc01 snp 16 rs6500527
dbSNP Clinvar
89167431 312.77 G C PASS 0/1 46 SYNONYMOUS_CODING LOW None 0.61981 0.61980 0.27755 None None None None None None ACSF3|0.012049699|79.2%
View dxc01 snp 16 rs12447947
dbSNP Clinvar
89199651 122.77 G A PASS 0/1 24 SYNONYMOUS_CODING LOW None 0.14537 0.14540 0.26277 None None None None None None ACSF3|0.012049699|79.2%
View dxc01 snp 16 rs7193255
dbSNP Clinvar
89167404 595.77 T C PASS 0/1 40 SYNONYMOUS_CODING LOW None 0.61981 0.61980 0.27532 None None None None None None ACSF3|0.012049699|79.2%

ACSM1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View dxc01 snp 16 rs1692729
dbSNP Clinvar
20638576 723.77 A T PASS 0/1 83 SYNONYMOUS_CODING LOW None 0.60583 0.60580 0.46293 None None None None None None ACSM3|0.167284946|40.62%,ACSM1|0.006779542|83.72%

ACSM2A

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 dxc01 snp 16 rs1133607
dbSNP Clinvar
20494408 454.77 C T PASS 0/1 37 NON_SYNONYMOUS_CODING MODERATE None 0.14078 0.14080 0.10941 0.01 0.00 None None None None None None ACSM2A|0.005190474|85.6%

ACSM2B

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View dxc01 snp 16 rs16970280
dbSNP Clinvar
20552075 982.77 G T PASS 1/1 37 SYNONYMOUS_CODING LOW None 0.70607 0.70610 0.18525 None None None None None None ACSM2B|0.005001118|85.81%
View dxc01 snp 16 rs77863699
dbSNP Clinvar
20563528 650.77 T C PASS 0/1 76 NON_SYNONYMOUS_CODING MODERATE None 0.15076 0.15080 0.11114 0.59 0.01 None None None None None None ACSM2B|0.005001118|85.81%

ADAD2

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 dxc01 snp 16 rs8044695
dbSNP Clinvar
84224967 60.28 G A PASS 1/1 3 NON_SYNONYMOUS_CODING MODERATE None 0.00120 0.68590 0.24959 1.00 0.00 None None None None None None ADAD2|0.00601312|84.58%
View dxc01 snp 16 rs143424699
dbSNP Clinvar
84224872 93.77 C T PASS 0/1 9 SYNONYMOUS_CODING LOW None 0.00073 None None None None None None ADAD2|0.00601312|84.58%
View dxc01 snp 16 rs2303239
dbSNP Clinvar
84229580 512.77 C T PASS 1/1 18 SYNONYMOUS_CODING LOW None 0.29014 0.29010 0.27975 None None None None None None ADAD2|0.00601312|84.58%
View dxc01 snp 16 rs2303238
dbSNP Clinvar
84229559 482.77 T C PASS 1/1 17 SYNONYMOUS_CODING LOW None 0.80531 0.80530 0.16659 None None None None None None ADAD2|0.00601312|84.58%
View dxc01 snp 16 rs62049905
dbSNP Clinvar
84229436 295.77 G A PASS 1/1 11 SYNONYMOUS_CODING LOW None 0.31450 0.31450 0.29510 None None None None None None ADAD2|0.00601312|84.58%

ADAMTS18

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View dxc01 snp 16 rs766343923
dbSNP Clinvar
77401579 440.77 C T PASS 0/1 61 SYNONYMOUS_CODING LOW None None None None None None None ADAMTS18|0.112557021|48.75%
View dxc01 snp 16 rs8059275
dbSNP Clinvar
77389956 464.77 A G PASS 1/1 16 SYNONYMOUS_CODING LOW None 0.88219 0.88220 0.12527 None None None None None None ADAMTS18|0.112557021|48.75%
View dxc01 snp 16 rs9930984
dbSNP Clinvar
77353973 719.77 G T PASS 0/1 67 NON_SYNONYMOUS_CODING MODERATE None 0.63498 0.63500 0.48561 0.12 0.00 None None None None None None ADAMTS18|0.112557021|48.75%
View dxc01 snp 16 rs35478105
dbSNP Clinvar
77325325 332.77 G T PASS 0/1 55 NON_SYNONYMOUS_CODING MODERATE None 0.22784 0.22780 0.36819 0.03 0.55 None None None None None None ADAMTS18|0.112557021|48.75%
View dxc01 snp 16 rs11643211
dbSNP Clinvar
77401545 922.77 A G PASS 0/1 62 NON_SYNONYMOUS_CODING MODERATE None 0.36681 0.36680 0.25262 0.41 0.15 None None None None None None ADAMTS18|0.112557021|48.75%

ADAT1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View dxc01 snp 16 rs3743598
dbSNP Clinvar
75646685 824.77 G T PASS 0/1 71 NON_SYNONYMOUS_CODING MODERATE None 0.57049 0.57050 0.36450 0.71 0.00 None None None None None None ADAT1|0.07647983|55.99%

ADCY7

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 dxc01 snp 16 rs8051594
dbSNP Clinvar
50326661 610.77 A G PASS 1/1 24 SYNONYMOUS_CODING LOW None 0.99441 0.99440 0.00639 None None None None None None ADCY7|0.080648112|55.03%
View dxc01 snp 16 rs17289102
dbSNP Clinvar
50342658 381.77 C T PASS 0/1 27 SYNONYMOUS_CODING LOW None 0.09784 0.09784 0.19129 None None None None None None ADCY7|0.080648112|55.03%

ADCY9

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View dxc01 snp 16 rs2230742
dbSNP Clinvar
4016676 1366.77 A G PASS 1/1 46 SYNONYMOUS_CODING LOW None 0.73063 0.73060 0.19871 None None None None None None ADCY9|0.187231083|38.15%
View dxc01 snp 16 rs147045155
dbSNP Clinvar
4165257 359.77 C A PASS 0/1 36 NON_SYNONYMOUS_CODING MODERATE None 0.00280 0.00280 0.01185 0.23 0.06 None None None None None None ADCY9|0.187231083|38.15%
View dxc01 snp 16 rs2240735
dbSNP Clinvar
4027605 213.78 C T PASS 1/1 9 SYNONYMOUS_CODING LOW None 0.46845 0.46850 0.42151 None None None None None None ADCY9|0.187231083|38.15%

ANKRD11

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 dxc01 snp 16 rs2279348
dbSNP Clinvar
89350038 2531.77 G A PASS 1/1 97 NON_SYNONYMOUS_CODING MODERATE None 0.53355 0.53350 0.30299 0.00 None None None None None None ANKRD11|0.017604248|75.55%
View dxc01 snp 16 rs2279349
dbSNP Clinvar
89350178 1465.77 G A PASS 1/1 45 SYNONYMOUS_CODING LOW None 0.76358 0.76360 0.14782 None None None None None None ANKRD11|0.017604248|75.55%

ANKS3

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 dxc01 snp 16 rs841210
dbSNP Clinvar
4752134 140.77 A G PASS 0/1 21 SYNONYMOUS_CODING LOW None 0.52995 0.53000 0.44559 None None None None None None ANKS3|0.043782759|64.58%
View dxc01 snp 16 rs841214
dbSNP Clinvar
4748825 317.77 C T PASS 0/1 31 SYNONYMOUS_CODING LOW None 0.40495 0.40500 0.38305 None None None None None None ANKS3|0.043782759|64.58%
View dxc01 snp 16 rs863980
dbSNP Clinvar
4751045 917.77 C T PASS 0/1 92 NON_SYNONYMOUS_CODING MODERATE None 0.51238 0.51240 0.46737 0.89 0.00 None None None None None None ANKS3|0.043782759|64.58%

APOBR

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View dxc01 snp 16 rs151174
dbSNP Clinvar
28508069 1848.77 C T PASS 1/1 46 SYNONYMOUS_CODING LOW None 0.23842 0.23840 0.33955 None None None None None None APOBR|0.000791084|96.71%
View dxc01 snp 16 rs180744
dbSNP Clinvar
28508048 1774.77 A G PASS 1/1 45 SYNONYMOUS_CODING LOW None 0.31570 0.31570 0.40245 None None None None None None APOBR|0.000791084|96.71%
View dxc01 snp 16 rs40832
dbSNP Clinvar
28508716 368.77 T C PASS 1/1 13 NON_SYNONYMOUS_CODING MODERATE None 0.98702 0.98700 0.01757 1.00 0.00 None None None None None None APOBR|0.000791084|96.71%
View dxc01 snp 16 rs180743
dbSNP Clinvar
28507644 638.77 C G PASS 1/1 23 NON_SYNONYMOUS_CODING MODERATE None 0.30112 0.30110 0.39600 0.35 0.00 None None None None None None APOBR|0.000791084|96.71%
View dxc01 snp 16 rs149271
dbSNP Clinvar
28506872 230.78 A G PASS 1/1 9 SYNONYMOUS_CODING LOW None 0.29473 0.29470 0.38627 None None None None None None CLN3|0.080923796|55%,APOBR|0.000791084|96.71%
View dxc01 snp 16 rs40831
dbSNP Clinvar
28508447 569.77 A G PASS 1/1 20 SYNONYMOUS_CODING LOW None 0.49181 0.49180 0.44378 None None None None None None APOBR|0.000791084|96.71%

ARHGDIG

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 dxc01 snp 16 rs143239787
dbSNP Clinvar
332681 152.77 C T PASS 0/1 20 NON_SYNONYMOUS_CODING MODERATE None 0.00031 0.04 0.94 None None None None None None ARHGDIG|0.014045307|77.85%

ARMC5

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 dxc01 snp 16 rs35923277
dbSNP Clinvar
31473275 759.77 A G PASS 0/1 52 NON_SYNONYMOUS_CODING MODERATE None 0.02336 0.02336 0.03369 0.54 0.36 None None None None None None ARMC5|0.038585217|66.26%
View dxc01 snp 16 rs11150624
dbSNP Clinvar
31476458 211.77 C T PASS 0/1 28 None None None 0.30411 0.30410 0.31951 0.00 None None None None None None ARMC5|0.038585217|66.26%

ATF7IP2

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 dxc01 snp 16 rs34430103
dbSNP Clinvar
10524957 477.77 G T PASS 0/1 68 SYNONYMOUS_CODING LOW None 0.17951 0.17950 0.15007 None None None None None None ATF7IP2|0.022985481|72.74%
View dxc01 snp 16 rs34404959
dbSNP Clinvar
10525230 415.77 T C PASS 0/1 38 SYNONYMOUS_CODING LOW None 0.24241 0.24240 0.21672 None None None None None None ATF7IP2|0.022985481|72.74%

ATMIN

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 dxc01 snp 16 rs2257378
dbSNP Clinvar
81077915 1431.77 T C PASS 1/1 50 SYNONYMOUS_CODING LOW None 0.70268 0.70270 0.25615 None None None None None None ATMIN|0.091182052|53%

ATP2A1

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 dxc01 snp 16 rs6565259
dbSNP Clinvar
28898793 1286.77 T C PASS 1/1 44 SYNONYMOUS_CODING LOW None 0.33886 0.33890 0.40365 None None None None None None ATP2A1|0.341919213|24.7%

ATP2C2

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 dxc01 snp 16 rs62048787
dbSNP Clinvar
84402275 331.77 G C PASS 1/1 13 SYNONYMOUS_CODING LOW None 0.41773 0.41770 0.25903 None None None None None None ATP2C2|0.028466008|70.21%
View dxc01 snp 16 rs247818
dbSNP Clinvar
84444349 1057.77 A C PASS 1/1 39 NON_SYNONYMOUS_CODING MODERATE None 0.99621 0.99620 0.00215 1.00 0.00 None None None None None None ATP2C2|0.028466008|70.21%
View dxc01 snp 16 rs247885
dbSNP Clinvar
84485573 768.77 C A PASS 1/1 27 SYNONYMOUS_CODING LOW None 0.99820 0.99820 0.00180 None None None None None None ATP2C2|0.028466008|70.21%
View dxc01 snp 16 rs410388
dbSNP Clinvar
84493144 660.77 C G PASS 1/1 23 NON_SYNONYMOUS_CODING MODERATE None 0.99840 0.99840 0.59 0.00 None None None None None None ATP2C2|0.028466008|70.21%
View dxc01 snp 16 rs2241640
dbSNP Clinvar
84494275 657.77 C T PASS 0/1 65 SYNONYMOUS_CODING LOW None 0.47224 0.47220 0.42948 None None None None None None ATP2C2|0.028466008|70.21%

ATXN1L

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 dxc01 snp 16 rs61747555
dbSNP Clinvar
71885423 232.77 A G PASS 0/1 33 NON_SYNONYMOUS_CODING MODERATE None 0.16933 0.16930 0.15243 0.13 0.00 None None None None None None ATXN1L|0.495247455|16.06%,IST1|0.589563017|12.15%

ATXN2L

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 dxc01 snp 16 rs4344749
dbSNP Clinvar
28842311 327.77 A G PASS 1/1 13 SYNONYMOUS_CODING LOW None 0.99780 0.99780 0.00239 None None None None None None ATXN2L|0.330957968|25.43%

AXIN1

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 dxc01 snp 16 rs1805105
dbSNP Clinvar
396264 2211.77 A G PASS 1/1 77 SYNONYMOUS_CODING LOW None 0.63898 0.63900 0.28587 None None None None None None AXIN1|0.853904353|4.55%

BAIAP3

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 dxc01 snp 16 rs77633104
dbSNP Clinvar
1388909 385.77 C T PASS 0/1 33 SYNONYMOUS_CODING LOW None 0.04133 0.04133 0.04216 None None None None None None BAIAP3|0.02462485|71.97%
View dxc01 snp 16 rs1132356
dbSNP Clinvar
1394507 1676.77 A C PASS 1/1 58 NON_SYNONYMOUS_CODING MODERATE None 0.95108 0.95110 0.07901 0.92 0.00 None None None None None None BAIAP3|0.02462485|71.97%
View dxc01 snp 16 rs7202563
dbSNP Clinvar
1389153 245.78 C A PASS 1/1 8 None None None 0.95627 0.95630 0.06378 0.49 0.01 None None None None None None BAIAP3|0.02462485|71.97%

BANP

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 dxc01 snp 16 rs74740586
dbSNP Clinvar
88061150 544.77 C T PASS 0/1 70 SYNONYMOUS_CODING LOW None 0.37480 0.37480 0.27570 None None None None None None BANP|0.091573443|52.92%
View dxc01 snp 16 rs8050209
dbSNP Clinvar
88105725 134.77 G A PASS 0/1 17 SYNONYMOUS_CODING LOW None 0.45487 0.45490 0.45611 None None None None None None BANP|0.091573443|52.92%

BBS2

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 dxc01 snp 16 rs4784677
dbSNP Clinvar
56548501 1043.77 C T PASS 1/1 38 NON_SYNONYMOUS_CODING MODERATE None 0.99641 0.99640 0.00554 1.00 0.00 None None None None None None BBS2|0.509758209|15.38%

BCAR1

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 dxc01 snp 16 rs3743613
dbSNP Clinvar
75269534 969.77 C T PASS 1/1 33 SYNONYMOUS_CODING LOW None 0.47185 0.47180 0.30454 None None None None None None BCAR1|0.161589333|41.34%
View dxc01 snp 16 rs3169330
dbSNP Clinvar
75269267 1638.77 A G PASS 1/1 56 SYNONYMOUS_CODING LOW None 0.92632 0.92630 0.15451 None None None None None None BCAR1|0.161589333|41.34%

BCMO1

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 dxc01 snp 16 rs7500996
dbSNP Clinvar
81295902 407.77 T C PASS 0/1 46 None None None 0.24181 0.24180 0.23731 0.00 None None None None None None BCO1|0.044162038|64.47%
View dxc01 snp 16 rs35683292
dbSNP Clinvar
81295780 715.77 C A PASS 0/1 80 SYNONYMOUS_CODING LOW None 0.01697 0.01697 0.04030 None None None None None None BCO1|0.044162038|64.47%
View dxc01 snp 16 rs28370522
dbSNP Clinvar
81279120 241.77 T C PASS 0/1 48 SYNONYMOUS_CODING LOW None 0.37959 0.37960 0.38750 None None None None None None BCO1|0.044162038|64.47%
View dxc01 snp 16 rs7202895
dbSNP Clinvar
81301571 661.77 A G PASS 0/1 46 SYNONYMOUS_CODING LOW None 0.14197 0.14200 0.14580 None None None None None None BCO1|0.044162038|64.47%

BFAR

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 dxc01 snp 16 rs11546303
dbSNP Clinvar
14742400 362.77 T G PASS 0/1 41 NON_SYNONYMOUS_CODING MODERATE None 0.25200 0.25200 0.31715 0.66 0.00 None None None None None None BFAR|0.182416746|38.73%

BRICD5

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 dxc01 snp 16 rs26856
dbSNP Clinvar
2260612 351.77 T C PASS 0/1 21 NON_SYNONYMOUS_CODING MODERATE None 0.63279 0.63280 0.31255 1.00 0.00 None None None None None None BRICD5|0.004572859|86.34%

C16orf45

Omim - GeneCards - NCBI
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View dxc01 snp 16 rs2071332
dbSNP Clinvar
15680642 104.77 C T PASS 0/1 18 SYNONYMOUS_CODING LOW None 0.22145 0.22140 0.17321 None None None None None None C16orf45|0.240469657|32.39%

C16orf46

Omim - GeneCards - NCBI
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View dxc01 snp 16 rs804885
dbSNP Clinvar
81095363 1405.77 C T PASS 1/1 45 SYNONYMOUS_CODING LOW None 0.71605 0.71610 0.23339 None None None None None None C16orf46|0.005033561|85.77%

C16orf71

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 dxc01 snp 16 rs17853375
dbSNP Clinvar
4797457 266.77 C T PASS 0/1 21 NON_SYNONYMOUS_CODING MODERATE None 0.42792 0.42790 0.44208 0.07 0.41 None None None None None None C16orf71|0.001288696|93.97%
View dxc01 snp 16 rs61746912
dbSNP Clinvar
4796399 377.77 C T PASS 0/1 33 NON_SYNONYMOUS_CODING MODERATE None 0.08367 0.08367 0.04333 1.00 0.99 None None None None None None C16orf71|0.001288696|93.97%
View dxc01 snp 16 rs859310
dbSNP Clinvar
4787987 335.77 G A PASS 0/1 29 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.52816 0.52820 0.44344 0.55 0.00 None None None None None None C16orf71|0.001288696|93.97%
View dxc01 snp 16 rs859305
dbSNP Clinvar
4790273 484.77 G A PASS 0/1 38 SYNONYMOUS_CODING LOW None 0.55272 0.55270 0.41835 None None None None None None C16orf71|0.001288696|93.97%
View dxc01 snp 16 rs737700
dbSNP Clinvar
4796393 277.77 A G PASS 0/1 33 NON_SYNONYMOUS_CODING MODERATE None 0.56590 0.56590 0.38518 0.85 0.00 None None None None None None C16orf71|0.001288696|93.97%

C16orf89

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 dxc01 snp 16 rs1127920
dbSNP Clinvar
5097947 794.77 A G PASS 1/1 30 NON_SYNONYMOUS_CODING MODERATE None 0.22604 0.22600 0.26478 0.27 0.16 None None None None None None ALG1|0.0336465|67.9%,C16orf89|0.005419562|85.31%
View dxc01 snp 16 rs741164
dbSNP Clinvar
5106184 642.77 C T PASS 1/1 24 SYNONYMOUS_CODING LOW None 0.52296 0.52300 0.43166 None None None None None None ALG1|0.0336465|67.9%,C16orf89|0.005419562|85.31%

C16orf93

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 dxc01 snp 16 rs62622830
dbSNP Clinvar
30770950 71.77 T C PASS 0/1 33 NON_SYNONYMOUS_CODING MODERATE None 0.08347 0.08347 0.15607 0.50 0.00 None None None None None None PHKG2|0.327083311|25.69%,C16orf93|0.035000092|67.48%
View dxc01 snp 16 rs117306997
dbSNP Clinvar
30770762 430.77 G A PASS 0/1 32 SYNONYMOUS_CODING LOW None 0.00359 0.00359 0.00708 None None None None None None PHKG2|0.327083311|25.69%,C16orf93|0.035000092|67.48%

C16orf95

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View dxc01 snp 16 rs74038425
dbSNP Clinvar
87344867 282.77 G A PASS 0/1 30 SYNONYMOUS_CODING LOW None 0.17332 0.17330 None None None None None None C16orf95|0.001242793|94.21%