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EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES
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EXCLUDE ALL VARIANTS PRESENT IN DBSNP
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Genes at Omim

ADAMTS2, ADAMTSL2, B4GALT7, CBS, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, COL6A1, COL6A2, COL6A3, DSE, FBN2, FLNB, GORAB, LTBP2, LZTS1, MTHFR, MYH11, MYLK, NOTCH1, PLOD1, PYCR1, SLC39A13, SMAD3, TNXB, ZNF469,
ADAMTS2 Ehlers-Danlos syndrome, dermatosparaxis type, 225410 (3)
ADAMTSL2 Geleophysic dysplasia 1, 231050 (3)
B4GALT7 Ehlers-Danlos syndrome, spondylodysplastic type, 1, 130070 (3)
CBS Homocystinuria, B6-responsive and nonresponsive types, 236200 (3)
Thrombosis, hyperhomocysteinemic, 236200 (3)
COL1A1 Caffey disease, 114000 (3)
Ehlers-Danlos syndrome, arthrochalasia type, 1, 130060 (3)
Osteogenesis imperfecta, type I, 166200 (3)
Osteogenesis imperfecta, type II, 166210 (3)
Osteogenesis imperfecta, type III, 259420 (3)
Osteogenesis imperfecta, type IV, 166220 (3)
{Bone mineral density variation QTL, osteoporosis}, 166710 (3)
COL1A2 {Osteoporosis, postmenopausal}, 166710 (3)
Ehlers-Danlos syndrome, arthrochalasia type, 2, 617821 (3)
Ehlers-Danlos syndrome, cardiac valvular type, 225320 (3)
Osteogenesis imperfecta, type II, 166210 (3)
Osteogenesis imperfecta, type III, 259420 (3)
Osteogenesis imperfecta, type IV, 166220 (3)
COL3A1 Ehlers-Danlos syndrome, vascular type, 130050 (3)
Polymicrogyria with or without vascular-type EDS, 618343 (3)
COL5A1 Ehlers-Danlos syndrome, classic type, 1, 130000 (3)
COL5A2 Ehlers-Danlos syndrome, classic type, 2, 130010 (3)
COL6A1 Bethlem myopathy 1, 158810 (3)
Ullrich congenital muscular dystrophy 1, 254090 (3)
COL6A2 Bethlem myopathy 1, 158810 (3)
?Myosclerosis, congenital, 255600 (3)
Ullrich congenital muscular dystrophy 1, 254090 (3)
COL6A3 Bethlem myopathy 1, 158810 (3)
Dystonia 27, 616411 (3)
Ullrich congenital muscular dystrophy 1, 254090 (3)
DSE Ehlers-Danlos syndrome, musculocontractural type 2, 615539 (3)
FBN2 Contractural arachnodactyly, congenital, 121050 (3)
Macular degeneration, early-onset, 616118 (3)
FLNB Atelosteogenesis, type I, 108720 (3)
Atelosteogenesis, type III, 108721 (3)
Boomerang dysplasia, 112310 (3)
Larsen syndrome, 150250 (3)
Spondylocarpotarsal synostosis syndrome, 272460 (3)
GORAB Geroderma osteodysplasticum, 231070 (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)
LZTS1 Esophageal squamous cell carcinoma, somatic, 133239 (3)
MTHFR Homocystinuria due to MTHFR deficiency, 236250 (3)
{Neural tube defects, susceptibility to}, 601634 (3)
{Schizophrenia, susceptibility to}, 181500 (3)
{Thromboembolism, susceptibility to}, 188050 (3)
{Vascular disease, susceptibility to} (3)
MYH11 Aortic aneurysm, familial thoracic 4, 132900 (3)
MYLK Aortic aneurysm, familial thoracic 7, 613780 (3)
NOTCH1 Adams-Oliver syndrome 5, 616028 (3)
Aortic valve disease 1, 109730 (3)
PLOD1 Ehlers-Danlos syndrome, kyphoscoliotic type, 1, 225400 (3)
PYCR1 Cutis laxa, autosomal recessive, type IIB, 612940 (3)
Cutis laxa, autosomal recessive, type IIIB, 614438 (3)
SLC39A13 Ehlers-Danlos syndrome, spondylodysplastic type, 3, 612350 (3)
SMAD3 Loeys-Dietz syndrome 3, 613795 (3)
TNXB Ehlers-Danlos syndrome, classic-like, 1 606408 (3)
Vesicoureteral reflux 8, 615963 (3)
ZNF469 Brittle cornea syndrome 1, 229200 (3)

Genes at Clinical Genomics Database

ADAMTS2, ADAMTSL2, B4GALT7, CBS, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, COL6A1, COL6A2, COL6A3, DSE, FBN2, FLNB, GORAB, LTBP2, MTHFR, MYH11, MYLK, NOTCH1, PLOD1, PYCR1, SLC39A13, SMAD3, TNXB, ZNF469,
ADAMTS2 Ehlers-Danlos syndrome, type VII
ADAMTSL2 Geleophysic dysplasia 1
B4GALT7 Ehlers-Danlos syndrome with short stature and limb anomalies
CBS Homocystinuria due to cystathionine beta-synthase deficiency
COL1A1 Ehlers-Danlos syndrome, type I
Ehlers-Danlos syndrome, type VII, autosomal dominant
COL1A2 Ehlers-Danlos syndrome, cardiac valvular form
COL3A1 Ehlers-Danlos syndrome, type IV
COL5A1 Ehlers-Danlos syndrome, type I
Ehlers-Danlos syndrome, type II
COL5A2 Ehlers-Danlos syndrome, type I
Ehlers-Danlos syndrome, type II
COL6A1 Ullrich congenital muscular dystrophy 1
Bethlem myopathy 1
COL6A2 Ullrich congenital muscular dystrophy 1
Myosclerosis, congenital
Bethlem myopathy 1
Epilepsy, progressive myoclonic, autosomal recessive
COL6A3 Ullrich congenital muscular dystrophy 1
Bethlem myopathy 1
Dystonia 27
DSE Ehlers-Danlos syndrome, musculocontractural type 2
FBN2 Congenital contractural arachnodactyly (Beals syndrome)
FLNB Larsen syndrome
Spondylocarpotarsal synostosis syndrome
Boomerang dysplasia
Atelosteogenesis, type I
Atelosteogenesis, type III
GORAB Geroderma osteodysplasticum
LTBP2 Glaucoma 3, primary congenital, D
Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma
Weill-Marchesani syndrome 3
MTHFR Homocystinuria due to MTHFR deficiency
MYH11 Aortic aneurysm, familial thoracic 4
MYLK Aortic aneurysm, familial thoracic 7
NOTCH1 Aortic valve disease
PLOD1 Ehlers-Danlos syndrome type VI
PYCR1 Cutis laxa, autosomal recessive, type IIB
Cutis laxa, autosomal recessive type IIIB
SLC39A13 Spondylocheirodysplasia, Ehlers-Danlos syndrome-like
SMAD3 Aneurysms-osteoarthritis syndrome
Loeys-Dietz syndrome, type 3
TNXB Vesicoureteral reflux 8
Ehlers-Danlos syndrome, autosomal recessive, due to tenascin X deficiency
ZNF469 Brittle cornea syndrome 1

Genes at HGMD

Summary

Number of Variants: 71
Number of Genes: 29

Export to: CSV
  • Page 1 of 1

ADAMTS2

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 tsvc_variants_ionxpress_032 5 rs2278221
dbSNP Clinvar
178581859 5446.08 G A PASS 1/1 564 SYNONYMOUS_CODING LOW None 0.22844 0.22840 0.18691 None None None None None None ADAMTS2|0.325728261|25.76%
View tsvc_variants_ionxpress_032 5 rs423552
dbSNP Clinvar
178634619 2963.46 C T PASS 1/1 297 SYNONYMOUS_CODING LOW None 0.92452 0.92450 0.08473 None None None None None None ADAMTS2|0.325728261|25.76%

ADAMTSL2

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 tsvc_variants_ionxpress_032 9 rs2073876
dbSNP Clinvar
136412255 6770.88 A C PASS 1/1 680 SYNONYMOUS_CODING LOW None 0.72464 0.72460 0.12440 None None None None None None ADAMTSL2|0.0506365|62.46%
View tsvc_variants_ionxpress_032 9 rs2073874
dbSNP Clinvar
136412170 1676.63 C T PASS 1/1 168 SYNONYMOUS_CODING LOW None 0.72404 0.72400 0.12464 None None None None None None ADAMTSL2|0.0506365|62.46%
View tsvc_variants_ionxpress_032 9 rs2073877
dbSNP Clinvar
136412296 1147.81 C T PASS 0/1 511 SYNONYMOUS_CODING LOW None 0.09585 0.09585 0.09803 None None None None None None ADAMTSL2|0.0506365|62.46%
View tsvc_variants_ionxpress_032 9 rs2073875
dbSNP Clinvar
136412236 6757.98 A T PASS 1/1 681 SYNONYMOUS_CODING LOW None 0.72464 0.72460 0.12448 None None None None None None ADAMTSL2|0.0506365|62.46%

B4GALT7

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 tsvc_variants_ionxpress_032 5 rs11537644
dbSNP Clinvar
177031348 297.752 T C PASS 0/1 123 SYNONYMOUS_CODING LOW None 0.66134 0.66130 0.36735 None None None None None None B4GALT7|0.160454345|41.46%

CBS

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 tsvc_variants_ionxpress_032 21 rs1801181
dbSNP Clinvar
44480616 454.388 G A PASS 0/1 228 SYNONYMOUS_CODING LOW None 0.29553 0.29550 0.26269 None None None None None None None

COL15A1

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 tsvc_variants_ionxpress_032 9 rs4480177
dbSNP Clinvar
101822220 1291.15 C T PASS 0/1 615 SYNONYMOUS_CODING LOW None 0.38538 0.38540 0.26334 None None None None None None None

COL1A1

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 tsvc_variants_ionxpress_032 17 rs2734272
dbSNP Clinvar
48268223 3096.07 A G PASS 1/1 309 SYNONYMOUS_CODING LOW None 0.99980 0.99980 0.00015 None None None None None None None

COL1A2

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 tsvc_variants_ionxpress_032 7 rs412777
dbSNP Clinvar
94041937 489.952 A C PASS 0/1 209 SYNONYMOUS_CODING LOW None 0.32728 0.32730 0.36106 None None None None None None COL1A2|0.875156049|4.09%
View tsvc_variants_ionxpress_032 7 rs1800222
dbSNP Clinvar
94030899 800.516 T C PASS 0/1 300 SYNONYMOUS_CODING LOW None 0.30431 0.30430 0.25204 None None None None None None COL1A2|0.875156049|4.09%

COL3A1

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 tsvc_variants_ionxpress_032 2 rs1801184
dbSNP Clinvar
189864582 4003.31 T C PASS 1/1 400 SYNONYMOUS_CODING LOW None 0.21206 0.21210 0.28503 None None None None None None None
View tsvc_variants_ionxpress_032 2 rs7579903
dbSNP Clinvar
189862097 213.364 G A PASS 0/1 97 SYNONYMOUS_CODING LOW None 0.12899 0.12900 0.16454 None None None None None None None

COL5A1

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 tsvc_variants_ionxpress_032 9 rs2228560
dbSNP Clinvar
137711997 625.927 G A PASS 0/1 338 SYNONYMOUS_CODING LOW None 0.01937 0.01937 None None None None None None COL5A1|0.207487878|35.85%
View tsvc_variants_ionxpress_032 9 rs3124299
dbSNP Clinvar
137619195 64.5455 C T PASS 0/1 15 SYNONYMOUS_CODING LOW None 0.34265 0.34270 0.33215 None None None None None None COL5A1|0.207487878|35.85%

COL5A2

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 tsvc_variants_ionxpress_032 2 rs2229495
dbSNP Clinvar
189932831 3821.52 T C PASS 1/1 385 SYNONYMOUS_CODING LOW None 0.94289 0.94290 0.03737 None None None None None None COL5A2|0.575233366|12.81%
View tsvc_variants_ionxpress_032 2 rs10197596
dbSNP Clinvar
189904233 464.812 T G PASS 0/1 243 SYNONYMOUS_CODING LOW None 0.11122 0.11120 0.09257 None None None None None None COL5A2|0.575233366|12.81%
View tsvc_variants_ionxpress_032 2 rs4128539
dbSNP Clinvar
189974958 6258.1 G T PASS 1/1 633 SYNONYMOUS_CODING LOW None 0.88858 0.88860 0.06005 None None None None None None COL5A2|0.575233366|12.81%
View tsvc_variants_ionxpress_032 2 rs10208525
dbSNP Clinvar
189904203 465.213 A G PASS 0/1 240 SYNONYMOUS_CODING LOW None 0.10943 0.10940 0.09319 None None None None None None COL5A2|0.575233366|12.81%
View tsvc_variants_ionxpress_032 2 rs6434312
dbSNP Clinvar
189907937 3776.56 A G PASS 1/1 378 SYNONYMOUS_CODING LOW None 0.94090 0.94090 0.02868 None None None None None None COL5A2|0.575233366|12.81%

COL6A1

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 tsvc_variants_ionxpress_032 21 rs1053315
dbSNP Clinvar
47423507 4127.03 G A PASS 1/1 416 SYNONYMOUS_CODING LOW None 0.26817 0.26820 0.33726 None None None None None None COL6A1|0.085741402|53.99%
View tsvc_variants_ionxpress_032 21 rs1053320
dbSNP Clinvar
47423636 1837.92 C T PASS 1/1 185 SYNONYMOUS_CODING LOW None 0.26418 0.26420 0.32713 None None None None None None COL6A1|0.085741402|53.99%
View tsvc_variants_ionxpress_032 21 rs1980982
dbSNP Clinvar
47410931 3593.04 T C PASS 1/1 362 SYNONYMOUS_CODING LOW None 0.54493 0.54490 0.37606 None None None None None None COL6A1|0.085741402|53.99%

COL6A2

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 tsvc_variants_ionxpress_032 21 rs13046639
dbSNP Clinvar
47545826 809.47 C T PASS 0/1 325 SYNONYMOUS_CODING LOW None 0.39397 0.39400 0.41258 None None None None None None COL6A2|0.07894144|55.42%
View tsvc_variants_ionxpress_032 21 rs6652
dbSNP Clinvar
47552385 1423.84 C T PASS 0/1 563 SYNONYMOUS_CODING LOW None 0.09245 0.09245 0.16731 None None None None None None COL6A2|0.07894144|55.42%
View tsvc_variants_ionxpress_032 21 rs9977394
dbSNP Clinvar
47552130 586.578 A G PASS 0/1 316 SYNONYMOUS_CODING LOW None 0.13978 0.13980 0.15080 None None None None None None COL6A2|0.07894144|55.42%
View tsvc_variants_ionxpress_032 21 rs13052956
dbSNP Clinvar
47545823 796.957 G A PASS 0/1 330 SYNONYMOUS_CODING LOW None 0.39417 0.39420 0.41273 None None None None None None COL6A2|0.07894144|55.42%

COL6A3

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 tsvc_variants_ionxpress_032 2 rs12622093
dbSNP Clinvar
238283605 824.457 G A PASS 0/1 380 SYNONYMOUS_CODING LOW None 0.21586 0.21590 0.19806 None None None None None None COL6A3|0.068829768|57.76%
View tsvc_variants_ionxpress_032 2 rs4433949
dbSNP Clinvar
238249630 13567.9 C T PASS 1/1 1373 SYNONYMOUS_CODING LOW None 0.34245 0.34250 0.36783 None None None None None None COL6A3|0.068829768|57.76%
View tsvc_variants_ionxpress_032 2 rs3790993
dbSNP Clinvar
238258814 4059.2 C G PASS 1/1 415 SYNONYMOUS_CODING LOW None 0.55431 0.55430 0.44110 None None None None None None COL6A3|0.068829768|57.76%
View tsvc_variants_ionxpress_032 2 rs2646254
dbSNP Clinvar
238267717 759.659 C T PASS 0/1 288 SYNONYMOUS_CODING LOW None 0.33087 0.33090 0.24919 None None None None None None COL6A3|0.068829768|57.76%
View tsvc_variants_ionxpress_032 2 rs2645774
dbSNP Clinvar
238277573 191.06 C A PASS 0/1 93 SYNONYMOUS_CODING LOW None 0.26558 0.26560 0.23435 None None None None None None COL6A3|0.068829768|57.76%
View tsvc_variants_ionxpress_032 2 rs2646260
dbSNP Clinvar
238277795 948.194 A G PASS 0/1 366 SYNONYMOUS_CODING LOW None 0.38838 0.38840 0.34707 None None None None None None COL6A3|0.068829768|57.76%

DSE

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 tsvc_variants_ionxpress_032 6 rs560644
dbSNP Clinvar
116757557 3694.68 T C PASS 1/1 370 SYNONYMOUS_CODING LOW None 0.97604 0.97600 0.05021 None None None None None None DSE|0.823278071|5.23%

FBN2

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 tsvc_variants_ionxpress_032 5 rs190450
dbSNP Clinvar
127614472 649.214 A G PASS 0/1 414 SYNONYMOUS_CODING LOW None 0.72664 0.72660 0.32208 None None None None None None None

FLNB

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 tsvc_variants_ionxpress_032 3 rs2362903
dbSNP Clinvar
58112440 1156.07 A G PASS 0/1 536 SYNONYMOUS_CODING LOW None 0.83327 0.83330 0.27441 None None None None None None FLNB|0.587014407|12.25%
View tsvc_variants_ionxpress_032 3 rs1522384
dbSNP Clinvar
58081888 1386.06 T C PASS 0/1 522 SYNONYMOUS_CODING LOW None 0.64197 0.64200 0.39513 None None None None None None FLNB|0.587014407|12.25%

GORAB

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 tsvc_variants_ionxpress_032 1 rs7531125
dbSNP Clinvar
170501385 1603.32 A C PASS 1/1 160 SYNONYMOUS_CODING LOW None 0.92752 0.92750 0.06451 None None None None None None GORAB|0.070011609|57.49%

LTBP2

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 tsvc_variants_ionxpress_032 14 rs699374
dbSNP Clinvar
74992800 428.044 A G PASS 0/1 212 SYNONYMOUS_CODING LOW None 0.37879 0.37880 0.35335 None None None None None None None
View tsvc_variants_ionxpress_032 14 rs862031
dbSNP Clinvar
74991855 1446.16 A G PASS 0/1 577 SYNONYMOUS_CODING LOW None 0.72824 0.72820 0.28618 None None None None None None None

LZTS1

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 tsvc_variants_ionxpress_032 8 rs2645386
dbSNP Clinvar
20110641 551.166 C T PASS 0/1 304 SYNONYMOUS_CODING LOW None 0.35863 0.35860 0.36523 None None None None None None None

MTHFR

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 tsvc_variants_ionxpress_032 1 rs4846051
dbSNP Clinvar
11854457 10939.7 G A PASS 1/1 1112 SYNONYMOUS_CODING LOW None 0.90296 0.90300 0.10949 None None None None None None MTHFR|0.736730973|7.44%

MYH11

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 tsvc_variants_ionxpress_032 16 rs2272554
dbSNP Clinvar
15850204 1976.62 A G PASS 1/1 198 SYNONYMOUS_CODING LOW None 0.54812 0.54810 0.49900 None None None None None None None
View tsvc_variants_ionxpress_032 16 rs1050113
dbSNP Clinvar
15839034 8259.46 G A PASS 1/1 826 SYNONYMOUS_CODING LOW None 0.25359 0.25360 0.26320 None None None None None None None

MYLK

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 tsvc_variants_ionxpress_032 3 rs40305
dbSNP Clinvar
123411589 1396.6 G A PASS 0/1 600 SYNONYMOUS_CODING LOW None 0.33267 0.33270 0.43665 None None None None None None MYLK|0.503223171|15.7%
View tsvc_variants_ionxpress_032 3 rs865358
dbSNP Clinvar
123418913 152.041 G A PASS 1/1 16 SYNONYMOUS_CODING LOW None 0.94788 0.94790 0.05836 None None None None None None MYLK|0.503223171|15.7%
View tsvc_variants_ionxpress_032 3 rs17298941
dbSNP Clinvar
123376067 917.681 G A PASS 0/1 478 SYNONYMOUS_CODING LOW None 0.01558 0.01558 0.02922 None None None None None None MYLK|0.503223171|15.7%
View tsvc_variants_ionxpress_032 3 rs1254392
dbSNP Clinvar
123368013 608.833 A G PASS 0/1 293 SYNONYMOUS_CODING LOW None 0.39617 0.39620 0.22459 None None None None None None MYLK|0.503223171|15.7%
View tsvc_variants_ionxpress_032 3 rs4678047
dbSNP Clinvar
123452838 2032.52 G A PASS 1/1 211 SYNONYMOUS_CODING LOW None 0.63279 0.63280 0.42565 None None None None None None MYLK|0.503223171|15.7%
View tsvc_variants_ionxpress_032 3 rs820463
dbSNP Clinvar
123357037 1326.6 A G PASS 0/1 639 SYNONYMOUS_CODING LOW None 0.37440 0.37440 0.19791 None None None None None None MYLK|0.503223171|15.7%

NOTCH1

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 tsvc_variants_ionxpress_032 9 rs10521
dbSNP Clinvar
139397707 7863.41 G A PASS 1/1 787 SYNONYMOUS_CODING LOW None 0.55351 0.55350 0.40804 None None None None None None NOTCH1|0.999930909|0.16%
View tsvc_variants_ionxpress_032 9 rs2229974
dbSNP Clinvar
139391636 8005.52 G A PASS 1/1 813 SYNONYMOUS_CODING LOW None 0.69509 0.69510 0.41873 None None None None None None NOTCH1|0.999930909|0.16%

PLOD1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ionxpress_032 1 rs1130529
dbSNP Clinvar
12024235 1495.46 C T PASS 0/1 701 SYNONYMOUS_CODING LOW None 0.34844 0.34840 0.31078 None None None None None None PLOD1|0.277959091|29.26%
View tsvc_variants_ionxpress_032 1 rs2230898
dbSNP Clinvar
12026355 912.067 A C PASS 0/1 403 SYNONYMOUS_CODING LOW None 0.06450 0.06450 0.06075 None None None None None None PLOD1|0.277959091|29.26%
View tsvc_variants_ionxpress_032 1 rs7529452
dbSNP Clinvar
12009955 783.785 C T PASS 0/1 405 SYNONYMOUS_CODING LOW None 0.26777 0.26780 0.22928 None None None None None None PLOD1|0.277959091|29.26%

PYCR1

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 tsvc_variants_ionxpress_032 17 rs61747618
dbSNP Clinvar
79891147 3783.25 T C PASS 1/1 379 SYNONYMOUS_CODING LOW None 0.98602 0.98600 0.01853 None None None None None None PYCR1|0.14269475|44.04%

SLC39A13

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 tsvc_variants_ionxpress_032 11 rs2293576
dbSNP Clinvar
47434986 652.49 G A PASS 0/1 248 SYNONYMOUS_CODING LOW None 0.27057 0.27060 0.24581 None None None None None None None

SMAD3

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 tsvc_variants_ionxpress_032 15 rs1065080
dbSNP Clinvar
67457335 1585.52 A G PASS 1/1 161 SYNONYMOUS_CODING LOW None 0.83407 0.83410 0.12000 None None None None None None SMAD3|0.986051124|1.24%

TNXB

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 tsvc_variants_ionxpress_032 6 . 32065862 10.8004 C G PASS 0/1 276 SYNONYMOUS_CODING LOW None None None None None None None TNXB|0.058348166|60.32%
View tsvc_variants_ionxpress_032 6 rs204886
dbSNP Clinvar
32029415 846.661 T C PASS 1/1 94 SYNONYMOUS_CODING LOW None 0.59864 0.59860 None None None None None None TNXB|0.058348166|60.32%
View tsvc_variants_ionxpress_032 6 rs564152667
dbSNP Clinvar
32029340 13.5828 G A PASS 0/1 18 SYNONYMOUS_CODING LOW None 0.00020 0.00020 None None None None None None TNXB|0.058348166|60.32%
View tsvc_variants_ionxpress_032 6 rs760906844
dbSNP Clinvar
32023794 46.364 G A PASS 0/1 33 SYNONYMOUS_CODING LOW None None None None None None None TNXB|0.058348166|60.32%
View tsvc_variants_ionxpress_032 6 rs758424441
dbSNP Clinvar
32012997 29.1174 G A PASS 0/1 81 SYNONYMOUS_CODING LOW None None None None None None None TNXB|0.058348166|60.32%
View tsvc_variants_ionxpress_032 6 rs204883
dbSNP Clinvar
32032743 2073.91 G A PASS 0/1 858 SYNONYMOUS_CODING LOW None 0.39876 0.39880 0.35846 None None None None None None TNXB|0.058348166|60.32%

ZNF469

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 tsvc_variants_ionxpress_032 16 rs3812953
dbSNP Clinvar
88502482 2794.83 C T PASS 1/1 281 SYNONYMOUS_CODING LOW None 0.47005 0.47000 None None None None None None ZNF469|0.000923153|95.92%
View tsvc_variants_ionxpress_032 16 rs9938800
dbSNP Clinvar
88497400 249.428 G A PASS 0/1 75 SYNONYMOUS_CODING LOW None 0.90256 0.90260 None None None None None None ZNF469|0.000923153|95.92%
View tsvc_variants_ionxpress_032 16 rs111557381
dbSNP Clinvar
88497394 249.428 T C PASS 0/1 76 SYNONYMOUS_CODING LOW None 0.03814 0.03814 None None None None None None ZNF469|0.000923153|95.92%
View tsvc_variants_ionxpress_032 16 rs9931465
dbSNP Clinvar
88499539 4131.65 C G PASS 1/1 519 SYNONYMOUS_CODING LOW None 0.77955 0.77960 0.18034 None None None None None None ZNF469|0.000923153|95.92%
View tsvc_variants_ionxpress_032 16 rs12445417
dbSNP Clinvar
88498297 5166.62 T G PASS 1/1 518 SYNONYMOUS_CODING LOW None 0.84645 0.84640 0.16032 None None None None None None ZNF469|0.000923153|95.92%
View tsvc_variants_ionxpress_032 16 rs4782362
dbSNP Clinvar
88505734 863.59 C T PASS 1/1 87 SYNONYMOUS_CODING LOW None 0.98722 0.98720 0.01205 None None None None None None ZNF469|0.000923153|95.92%
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