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 at Omim

LTBP3,
LTBP3 Dental anomalies and short stature, 601216 (3)
Geleophysic dysplasia 3, 617809 (3)

Genes at Clinical Genomics Database

LTBP3,
LTBP3 Dental anomalies and short stature

Genes at HGMD

Summary

Number of Variants: 56
Number of Genes: 1

Export to: CSV
  • Page 1 of 1

LTBP3

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 combined sample_39.variant3 11 rs761360910
dbSNP Clinvar
65325325 143.07 CCAG C,... PASS 3/2 51 CODON_INSERTION MODERATE None 0.26129 None None None None None None LTBP3|0.150450065|42.94%
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 combined sample_39.variant3 1 rs781809390
dbSNP Clinvar
145472558 1437.38 GCCC G,... PASS 3/2 91 None None None None None None None None None ANKRD34A|0.19061906|37.75%
View combined sample_39.variant3 2 rs796348908
dbSNP Clinvar
218758123 356.36 GCA GC... PASS 3/2 56 None None None None None None None None None TNS1|0.891163744|3.64%
View combined sample_39.variant3 4 rs3838234,rs796520100
dbSNP Clinvar
48537603 437.26 T TA... PASS 3/2 19 None None None None None None None None None FRYL|0.342095381|24.68%
View combined sample_39.variant3 4 rs139520509,rs76372420
dbSNP Clinvar
80824504 443.06 TTCTC TT... PASS 3/2 100 None None None None None None None None None ANTXR2|0.866348045|4.33%
View combined sample_39.variant3 5 . 184106 64.43 CGATA C,... PASS 3/2 13 None None None None None None None None None None
View combined sample_39.variant3 5 rs36230431
dbSNP Clinvar
130540160 50.84 TA... TA... PASS 3/2 25 None None None None None None None None None LYRM7|0.245719693|31.96%
View combined sample_39.variant3 6 rs200233226
dbSNP Clinvar
63921250 1922.22 GAA G,... PASS 3/2 163 None None None None None None None None None None
View combined sample_39.variant3 6 . 108509706 791.08 AA... A,... PASS 3/2 51 None None None None None None None None None NR2E1|0.721110093|7.95%
View combined sample_39.variant3 8 . 92970956 451.13 CAAAA CA... PASS 3/2 66 None None None None None None None None None RUNX1T1|0.998431408|0.5%
View combined sample_39.variant3 11 . 45713130 760.86 CC... CC... PASS 3/2 43 None None None None None None None None None None
View combined sample_39.variant3 11 rs10524234,rs398017944
dbSNP Clinvar
125365695 324.63 GA... G,... PASS 3/2 14 None None None None None None None None None FEZ1|0.279994435|29.09%
View combined sample_39.variant3 13 rs775755320
dbSNP Clinvar
103331143 727.02 AT... AT... PASS 3/2 53 None None None None None None None None None TPP2|0.34992105|24.12%
View combined sample_39.variant3 13 rs144160325
dbSNP Clinvar
111364877 231.69 A AG... PASS 3/2 40 MOTIF[MA0062.1:Gabp] LOW None None None None None None None CARS2|0.018441874|74.99%
View combined sample_39.variant3 15 rs140372940
dbSNP Clinvar
62304420 150.7 GA... G,... PASS 3/2 22 None None None None None None None None None VPS13C|0.17364255|39.85%
View combined sample_39.variant3 16 . 20708878 322.51 TA... TA... PASS 3/2 15 None None None None None None None None None ACSM3|0.167284946|40.62%,ACSM1|0.006779542|83.72%
View combined sample_39.variant3 18 rs202058415
dbSNP Clinvar
44771849 118.95 AT A,... PASS 3/2 49 None None None None None None None None None SKOR2|0.201699543|36.57%
View combined sample_39.variant3 20 rs552410230,rs59750367
dbSNP Clinvar
2618033 435.45 C CA... PASS 3/2 21 None None None 0.68311 None None None None None None TMC2|0.074484913|56.41%
View combined sample_39.variant3 1 . 45472798 1780.35 TT... TT... PASS 3/2 55 None None None None None None None None None HECTD3|0.250276823|31.5%
View combined sample_39.variant3 22 rs67796216
dbSNP Clinvar
26847952 169.9 AC... A,... PASS 3/2 39 None None None 0.90835 0.90830 None None None None None None HPS4|0.002818856|89%
View combined sample_39.variant3 1 . 159684047 220.97 CC... CC... PASS 3/2 15 None None None None None None None None None CRP|0.040740123|65.53%
View combined sample_39.variant3 2 rs779739639
dbSNP Clinvar
181925588 162.46 CT... CT... PASS 3/2 51 None None None None None None None None None UBE2E3|0.680565224|9.06%
View combined sample_39.variant3 4 rs72525094,rs570074898
dbSNP Clinvar
189063361 52.46 CG... CG... PASS 3/2 19 None None None None None None None None None TRIML1|0.020324106|74.01%
View combined sample_39.variant3 6 . 88108903 62.24 CA... CA... PASS 3/2 19 None None None None None None None None None LINC01590|0.001633665|92.21%
View combined sample_39.variant3 7 . 87257900 453.84 CG... CG... PASS 3/2 58 None None None None None None None None None ABCB1|0.831468236|5.08%,RUNDC3B|0.376666339|22.28%
View combined sample_39.variant3 11 rs10558787,rs58196618
dbSNP Clinvar
19246016 2143.85 ATGTG AT... PASS 3/2 133 None None None None None None None None None E2F8|0.285797306|28.67%
View combined sample_39.variant3 10 rs138888534
dbSNP Clinvar
88494809 459.17 TA... TA... PASS 3/2 24 None None None None None None None None None LDB3|0.330839914|25.44%
View combined sample_39.variant3 11 . 60778650 1534.77 CGT CG... PASS 3/2 189 None None None None None None None None None CD6|0.006908987|83.59%
View combined sample_39.variant3 11 . 62039514 472.14 TAAAA TA... PASS 3/2 38 None None None None None None None None None SCGB2A2|0.000176599|99.82%
View combined sample_39.variant3 11 rs72369292,rs5794191
dbSNP Clinvar
102592049 776.86 TTGTG T,... PASS 3/2 62 None None None 0.00100 0.00000 None None None None None None MMP8|0.030128828|69.34%
View combined sample_39.variant3 15 rs58435724
dbSNP Clinvar
52839294 201.12 CA CA... PASS 3/2 60 None None None None None None None None None ARPP19|0.67489033|9.23%
View combined sample_39.variant3 18 rs35349211
dbSNP Clinvar
20876726 2039.42 AT AT... PASS 3/2 191 None None None None None None None None None TMEM241|0.112119825|48.85%
View combined sample_39.variant3 X rs771619032
dbSNP Clinvar
22267325 114.45 CG... CG... PASS 3/2 31 None None None None None None None None None PHEX|0.755114153|6.97%
View combined sample_39.variant3 1 rs370354075
dbSNP Clinvar
44483040 260.83 AA... AA... PASS 3/2 28 None None None None None None None None None SLC6A9|0.487510755|16.43%
View combined sample_39.variant3 1 rs546178370
dbSNP Clinvar
55199420 1694.42 AT... AT... PASS 3/2 42 None None None 0.00060 0.02017 None None None None None None TTC4|0.085109121|54.15%
View combined sample_39.variant3 2 rs758320961
dbSNP Clinvar
25368951 408.36 GTTT G,... PASS 3/2 50 None None None None None None None None None EFR3B|0.149867166|43.05%
View combined sample_39.variant3 3 rs149985093,rs71133568
dbSNP Clinvar
121500479 459.6 TA... TA... PASS 3/2 30 None None None None None None None None None IQCB1|0.374314877|22.44%
View combined sample_39.variant3 3 rs749744480
dbSNP Clinvar
150177613 2096.54 TA... TA... PASS 3/2 200 None None None None None None None None None TSC22D2|0.101901103|50.8%
View combined sample_39.variant3 5 . 16916514 300.79 TA... TA... PASS 3/2 110 None None None None None None None None None MYO10|0.141886283|44.16%
View combined sample_39.variant3 5 rs111773832,rs68060196
dbSNP Clinvar
172261583 66.23 GC GC... PASS 3/2 34 None None None 0.94030 0.94030 None None None None None None ERGIC1|0.105920796|50.02%
View combined sample_39.variant3 6 . 35761202 98.36 CA C,... PASS 3/2 64 None None None None None None None None None CLPSL1|0.00081296|96.56%
View combined sample_39.variant3 7 rs201604997
dbSNP Clinvar
19155483 545.71 CAAA C,... PASS 3/2 97 None None None None None None None None None TWIST1|0.819344932|5.34%
View combined sample_39.variant3 7 rs67135219,rs58843969
dbSNP Clinvar
79848343 1362.85 TTG TT... PASS 3/2 46 None None None None None None None None None GNAI1|0.983124003|1.38%
View combined sample_39.variant3 8 rs757842997
dbSNP Clinvar
67405681 580.95 TAA TA... PASS 3/2 188 None None None None None None None None None C8orf46|0.07752265|55.76%
View combined sample_39.variant3 8 rs781177535
dbSNP Clinvar
86163230 88.15 CTTT CT... PASS 3/2 25 None None None None None None None None None CA13|0.117849983|47.79%
View combined sample_39.variant3 9 rs200260394
dbSNP Clinvar
91653257 395.67 TAAAA TA... PASS 3/2 51 None None None None None None None None None SHC3|0.097881186|51.55%
View combined sample_39.variant3 10 rs375322555,rs75967699
dbSNP Clinvar
18834797 6992.55 TA TA... PASS 3/2 177 None None None 0.56669 0.56670 None None None None None None NSUN6|0.06690049|58.17%
View combined sample_39.variant3 10 . 38260558 527.45 AA... AA... PASS 3/2 52 None None None None None None None None None ZNF25|0.02851499|70.18%
View combined sample_39.variant3 13 rs754357866
dbSNP Clinvar
28647489 812.68 GA... GA... PASS 3/2 68 None None None None None None None None None FLT3|0.691934663|8.71%
View combined sample_39.variant3 15 rs369451587,rs71432251
dbSNP Clinvar
48064554 862.23 C CG... PASS 3/2 78 None None None None None None None None None SEMA6D|0.872174744|4.17%
View combined sample_39.variant3 16 rs143227005,rs3085304
dbSNP Clinvar
84599156 2447.61 CA C,... PASS 3/2 184 None None None 0.41793 0.41790 None None None None None None None
View combined sample_39.variant3 17 rs767388616
dbSNP Clinvar
41196821 127.48 CTTT CT... PASS 3/2 53 None None None None None None None None None BRCA1|0.986984945|1.2%
View combined sample_39.variant3 18 . 31432399 43.3 CT C,... PASS 3/2 195 None None None None None None None None None NOL4|0.612405612|11.38%
View combined sample_39.variant3 19 rs141701236
dbSNP Clinvar
52227137 522.41 TA... TA... PASS 3/2 36 None None None None None None None None None HAS1|0.18273667|38.7%
View combined sample_39.variant3 20 rs201704708
dbSNP Clinvar
21312037 336.37 TC... T,... PASS 3/2 16 None None None None None None None None None XRN2|0.587310761|12.25%
View combined sample_39.variant3 X . 150151871 440.93 CC... CC... PASS 3/2 33 None None None None None None None None None HMGB3|0.202241588|36.49%
  • Page 1 of 1