SELECT VARIANTS FROM EXCLUDE VARIANTS FROM
INDIVIDUALS:

SNP LIST:
GROUPS:

SAVED GENE LIST:

GENE LIST:
INDIVIDUALS:

EXCLUDE SNP LIST:
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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

ATXN3, HLA-DRB1, PLCZ1,
ATXN3 Machado-Joseph disease, 109150 (3)
HLA-DRB1 {Multiple sclerosis, susceptibility to, 1}, 126200 (3)
{Sarcoidosis, susceptibility to, 1}, 181000 (3)
PLCZ1 ?Spermatogenic failure 17, 617214 (3)

Genes at Clinical Genomics Database

ATXN3,
ATXN3 Spinocerebellar ataxia 3 (Machado-Joseph disease)

Genes at HGMD

Summary

Number of Variants: 194
Number of Genes: 8

Export to: CSV

ATXN3

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 t30541_annotated_calls 14 . 92537354 200.0 CC GC... PASS 1/2 0 NON_SYNONYMOUS_CODING MODERATE None None None None None None None ATXN3|0.681306976|9.03%

FAM186A

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 t30541_annotated_calls 12 rs12317337
dbSNP Clinvar
50745863 200.0 C A,G PASS 1/2 0 SYNONYMOUS_CODING LOW None 0.26298 0.26300 None None None None None None FAM186A|0.00104253|95.21%

GYPE

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 t30541_annotated_calls 4 rs1132785
dbSNP Clinvar
144801662 200.0 C G,T PASS 1/2 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.30891 0.30890 1.00 0.00 None None None None None None GYPE|0.000492079|98.47%

HLA-DRB1

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 t30541_annotated_calls 6 rs707954
dbSNP Clinvar
32549501 200.0 A T,C PASS 1/2 0 NON_SYNONYMOUS_CODING MODERATE None 0.18074 0.04 0.10 None None None None None None HLA-DRB1|0.032266025|68.49%

KIAA2018

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 t30541_annotated_calls 3 rs751292894,rs879170805
dbSNP Clinvar
113376110 200.0 TT... TT... PASS 1/2 0 CODON_DELETION MODERATE None None None None None None None KIAA2018|0.1345024|45.17%

PARP8

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 t30541_annotated_calls 5 rs282547
dbSNP Clinvar
50057729 200.0 G A,T PASS 1/2 0 SYNONYMOUS_CODING LOW None 0.09904 0.46790 0.47686 None None None None None None PARP8|0.488792506|16.37%

PLCZ1

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 t30541_annotated_calls 12 rs767308392,rs773261501,rs531863439
dbSNP Clinvar
18854540 110.0 AT... AT... PASS 1/2 0 None None None None None None None None None PLCZ1|0.037940053|66.47%

THAP7

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 t30541_annotated_calls 22 rs426938
dbSNP Clinvar
21354970 200.0 C G,A PASS 1/2 0 NON_SYNONYMOUS_CODING MODERATE None 0.00779 0.00779 0.14532 0.41 0.00 None None None None None None THAP7|0.10145127|50.87%
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 t30541_annotated_calls 1 rs59725107,rs796433995
dbSNP Clinvar
17013916 78.0 GT AT,G PASS 1/2 0 None None None None None None None None None None
View t30541_annotated_calls 1 rs71268402
dbSNP Clinvar
148889551 200.0 TAA AAA,T PASS 1/2 0 None None None None None None None None None None
View t30541_annotated_calls 1 rs7416991
dbSNP Clinvar
155208647 200.0 T G,C PASS 1/2 0 None None None 0.46605 0.47680 None None None None None None GBA|0.094305258|52.28%
View t30541_annotated_calls 1 rs8658
dbSNP Clinvar
156706559 200.0 A G,C PASS 1/2 0 None None None 0.32089 0.32090 0.28395 None None None None None None RRNAD1|0.119124739|47.57%
View t30541_annotated_calls 1 rs35410036,rs71729035,rs56037071
dbSNP Clinvar
239215857 37.0 C CT... PASS 1/2 0 None None None 0.32029 0.41010 None None None None None None None
View t30541_annotated_calls 2 rs200981654,rs796663162
dbSNP Clinvar
40655563 122.0 CCA C,... PASS 1/2 0 None None None None None None None None None SLC8A1|0.791143716|6.09%
View t30541_annotated_calls 2 rs66633009
dbSNP Clinvar
42996709 143.0 AT... AT... PASS 1/2 0 None None None None None None None None None HAAO|0.143962065|43.87%
View t30541_annotated_calls 2 rs35508970
dbSNP Clinvar
46583281 200.0 C CT... PASS 1/2 0 None None None 0.00100 0.00100 None None None None None None EPAS1|0.56101019|13.31%
View t30541_annotated_calls 2 . 50147835 200.0 CG... CG... PASS 1/2 0 None None None None None None None None None NRXN1|0.995179441|0.81%
View t30541_annotated_calls 2 rs878883992
dbSNP Clinvar
96687427 112.0 TGC GGC,T PASS 1/2 0 None None None None None None None None None None
View t30541_annotated_calls 2 rs758954207
dbSNP Clinvar
128526579 200.0 TTAAA TT... PASS 1/2 0 None None None None None None None None None WDR33|0.543227251|14.08%
View t30541_annotated_calls 2 rs75449999
dbSNP Clinvar
170939692 200.0 T TA... PASS 1/2 0 None None None 0.34225 0.42930 None None None None None None UBR3|0.480060593|16.76%
View t30541_annotated_calls 2 rs71786143
dbSNP Clinvar
208464962 109.0 CAT C,... PASS 1/2 0 None None None None None None None None None CREB1|0.999813577|0.23%,METTL21A|0.102372179|50.72%
View t30541_annotated_calls 3 rs11272495
dbSNP Clinvar
17413531 200.0 A AA... PASS 1/2 0 None None None 0.02596 0.02596 None None None None None None TBC1D5|0.800095325|5.84%
View t30541_annotated_calls 3 rs780041091
dbSNP Clinvar
17469887 200.0 ATGTG ATG,A PASS 1/2 0 None None None None None None None None None TBC1D5|0.800095325|5.84%
View t30541_annotated_calls 3 rs67898127
dbSNP Clinvar
19988758 106.0 CCGG CC... PASS 1/2 0 None None None None None None None None None RAB5A|0.620368662|11.08%
View t30541_annotated_calls 3 rs149985093,rs71133568
dbSNP Clinvar
121500479 136.0 TA... TA... PASS 1/2 0 None None None None None None None None None IQCB1|0.374314877|22.44%
View t30541_annotated_calls 3 rs10657578
dbSNP Clinvar
122478032 45.0 C CC... PASS 1/2 0 None None None 0.23522 0.23520 None None None None None None HSPBAP1|0.054702078|61.27%
View t30541_annotated_calls 3 . 151983176 200.0 A AG... PASS 1/2 0 None None None 0.35284 None None None None None None MBNL1|0.985884094|1.25%
View t30541_annotated_calls 3 . 183756837 85.0 G GT... PASS 1/2 0 None None None 0.77496 None None None None None None HTR3D|0.008301447|82.34%
View t30541_annotated_calls 4 rs111824065,rs757071495,rs879111437
dbSNP Clinvar
3903776 200.0 A AA... PASS 1/2 0 None None None 0.22284 0.22280 None None None None None None None
View t30541_annotated_calls 4 rs758182491,rs869267342,rs869241459
dbSNP Clinvar
82013619 200.0 AA... A,... PASS 1/2 0 None None None None None None None None None PRKG2|0.526818087|14.7%
View t30541_annotated_calls 4 rs11337410,rs397995972
dbSNP Clinvar
160279824 200.0 TA T,TAA PASS 1/2 0 None None None 0.34864 0.34860 None None None None None None RAPGEF2|0.393196223|21.19%
View t30541_annotated_calls 4 rs141549868
dbSNP Clinvar
177103556 200.0 GT... GTA,G PASS 1/2 0 None None None None None None None None None WDR17|0.148033326|43.28%
View t30541_annotated_calls 5 rs747632863
dbSNP Clinvar
50055456 15.0 CT TT,C PASS 1/2 0 None None None None None None None None None PARP8|0.488792506|16.37%
View t30541_annotated_calls 5 rs35235754,rs397881882
dbSNP Clinvar
53181902 129.0 CA C,... PASS 1/2 0 None None None 0.15535 0.15540 None None None None None None ARL15|0.803940544|5.72%
View t30541_annotated_calls 5 rs71606670
dbSNP Clinvar
60453817 60.0 T TA... PASS 1/2 0 None None None None None None None None None SMIM15|0.298449049|27.75%
View t30541_annotated_calls 5 rs141010737
dbSNP Clinvar
122714134 121.0 TA... TA... PASS 1/2 0 None None None 0.14577 0.14580 None None None None None None CEP120|0.184727315|38.38%
View t30541_annotated_calls 5 . 147162227 200.0 GG AG... PASS 1/2 0 START_GAINED LOW None None None None None None None JAKMIP2|0.38627918|21.66%
View t30541_annotated_calls 6 . 36483295 85.0 CC... CCA,C PASS 1/2 0 None None None None None None None None None STK38|0.934184484|2.67%
View t30541_annotated_calls 6 rs112822816,rs386407760,rs386407761,rs34581323
dbSNP Clinvar
83921245 121.0 C CT... PASS 1/2 0 None None None 0.19129 0.72000 None None None None None None ME1|0.247553435|31.77%
View t30541_annotated_calls 6 rs397795966
dbSNP Clinvar
144512671 200.0 T TA... PASS 1/2 0 None None None 0.00080 0.92770 None None None None None None None
View t30541_annotated_calls 6 rs67363454,rs764558623,rs35220458
dbSNP Clinvar
167551796 51.0 CT CTT,C PASS 1/2 0 None None None None None None None None None CCR6|0.006438685|84.13%
View t30541_annotated_calls 7 rs879064053
dbSNP Clinvar
12511544 200.0 CAA C,... PASS 1/2 0 None None None None None None None None None None
View t30541_annotated_calls 7 rs780401264
dbSNP Clinvar
43665352 200.0 CAGAG CAG,C PASS 1/2 0 None None None None None None None None None STK17A|0.045556394|64.03%,COA1|0.003135532|88.41%
View t30541_annotated_calls 7 rs111698493
dbSNP Clinvar
79848343 80.0 T TT... PASS 1/2 0 None None None None None None None None None GNAI1|0.983124003|1.38%
View t30541_annotated_calls 7 rs10647775,rs57643634
dbSNP Clinvar
87056260 54.0 A AG... PASS 1/2 0 None None None None None None None None None ABCB4|0.238504845|32.55%
View t30541_annotated_calls 7 rs144458193,rs755643973,rs71110824
dbSNP Clinvar
102825771 200.0 TT... TT... PASS 1/2 0 None None None 0.64717 0.64720 None None None None None None None
View t30541_annotated_calls 7 rs201325371,rs58717493
dbSNP Clinvar
104885481 200.0 AA... CA... PASS 1/2 0 None None None 0.44748 0.44750 None None None None None None SRPK2|0.439348496|18.71%
View t30541_annotated_calls 7 rs13308199
dbSNP Clinvar
128315588 200.0 T C,A PASS 1/2 0 None None None 0.21366 0.21370 None None None None None None FAM71F2|0.01865689|74.89%
View t30541_annotated_calls 7 rs147606112
dbSNP Clinvar
149018175 200.0 GTTT GTT,G PASS 1/2 0 None None None 0.90555 0.90560 None None None None None None None
View t30541_annotated_calls 7 rs58710847
dbSNP Clinvar
139878036 200.0 TTTCC CT... PASS 1/2 0 None None None None None None None None None None
View t30541_annotated_calls 8 rs3840719
dbSNP Clinvar
19262118 200.0 A AA... PASS 1/2 0 None None None None None None None None None CSGALNACT1|0.134495825|45.18%
View t30541_annotated_calls 8 rs772049172,rs72215666
dbSNP Clinvar
119202747 200.0 AGTGT AGT,A PASS 1/2 0 None None None None None None None None None SAMD12|0.743624544|7.29%
View t30541_annotated_calls 8 . 144147565 200.0 AT... A,... PASS 1/2 0 None None None None None None None None None None
View t30541_annotated_calls 8 rs11136270
dbSNP Clinvar
144298046 95.0 C G,A PASS 1/2 0 None None None 0.15336 0.84600 None None None None None None GPIHBP1|0.000870813|96.22%
View t30541_annotated_calls 10 rs146871343,rs61701465
dbSNP Clinvar
6361647 10.0 TA TAA,T PASS 1/2 0 None None None 0.67851 0.67850 None None None None None None None
View t30541_annotated_calls 10 rs759627377
dbSNP Clinvar
30900631 62.0 AAAAG A,... PASS 1/2 0 None None None None None None None None None None
View t30541_annotated_calls 10 rs143114077,rs55858178
dbSNP Clinvar
61411521 200.0 G GC... PASS 1/2 0 None None None 0.48160 None None None None None None SLC16A9|0.142486434|44.07%
View t30541_annotated_calls 10 rs373742473,rs72018980,rs5786742
dbSNP Clinvar
88414133 47.0 AAC A,... PASS 1/2 0 None None None 0.53854 0.53850 None None None None None None None
View t30541_annotated_calls 11 rs5794042,rs33962435,rs3031278
dbSNP Clinvar
100061827 93.0 G GA... PASS 1/2 0 None None None 0.00120 0.20690 None None None None None None CNTN5|0.790800052|6.1%
View t30541_annotated_calls 11 . 102584466 200.0 GT TT... PASS 1/2 0 None None None None None None None None None MMP8|0.030128828|69.34%
View t30541_annotated_calls 11 rs35058533
dbSNP Clinvar
114398627 200.0 CA C,CAA PASS 1/2 0 None None None 0.00938 0.24000 None None None None None None NXPE1|0.003638597|87.53%
View t30541_annotated_calls 12 rs113359210,rs60711836
dbSNP Clinvar
74933853 145.0 GT G,GTT PASS 1/2 0 None None None 0.83147 0.83150 None None None None None None ATXN7L3B|0.065423029|58.5%
View t30541_annotated_calls 12 rs111580568,rs57335554
dbSNP Clinvar
96386646 200.0 G GC... PASS 1/2 0 None None None 0.18570 0.18570 None None None None None None HAL|0.524454657|14.77%
View t30541_annotated_calls 13 rs60655422,rs796439130
dbSNP Clinvar
19955727 110.0 AT A,ATT PASS 1/2 0 None None None 0.00120 0.34170 None None None None None None None
View t30541_annotated_calls 13 rs1965154
dbSNP Clinvar
25072200 200.0 T C,A PASS 1/2 0 None None None 0.07568 0.07568 None None None None None None PARP4|0.005070641|85.72%
View t30541_annotated_calls 13 rs199760566
dbSNP Clinvar
25525327 33.0 GA GAA,G PASS 1/2 0 None None None None None None None None None None
View t30541_annotated_calls 13 . 36050433 128.0 CC... CC... PASS 1/2 0 None None None None None None None None None NBEA|0.760153297|6.83%,MAB21L1|0.642231388|10.38%
View t30541_annotated_calls 13 rs372190128
dbSNP Clinvar
60851951 200.0 TAA TA,T PASS 1/2 0 None None None None None None None None None None
View t30541_annotated_calls 14 rs145933066,rs59342816
dbSNP Clinvar
34396358 83.0 G GA... PASS 1/2 0 None None None None None None None None None EGLN3|0.909376236|3.26%
View t30541_annotated_calls 14 rs58321507,rs769654772,rs10607138,rs398024801
dbSNP Clinvar
37194681 200.0 AAAAT A,... PASS 1/2 0 None None None 0.50998 0.51000 None None None None None None SLC25A21|0.96607917|1.84%
View t30541_annotated_calls 14 . 39784042 95.0 AT GT... PASS 1/2 0 None None None None None None None None None CTAGE5|0.090584554|53.11%
View t30541_annotated_calls 14 rs757918841
dbSNP Clinvar
62211578 200.0 CG... CGT,C PASS 1/2 0 None None None None None None None None None HIF1A|0.997457006|0.62%
View t30541_annotated_calls 14 rs11342878,rs878978012,rs796893093
dbSNP Clinvar
77581584 200.0 GT G,GTT PASS 1/2 0 None None None None None None None None None CIPC|0.078508219|55.54%
View t30541_annotated_calls 16 rs56371693,rs879218107,rs398029351
dbSNP Clinvar
51681029 200.0 TA AA,T PASS 1/2 0 None None None 0.58427 0.58430 None None None None None None None
View t30541_annotated_calls 16 . 90168694 200.0 GG... GG... PASS 1/2 0 None None None None None None None None None None
View t30541_annotated_calls 17 rs72518682,rs869282625
dbSNP Clinvar
1504360 200.0 GTGTT G,... PASS 1/2 0 None None None None None None None None None SLC43A2|0.245606777|31.97%
View t30541_annotated_calls 17 . 25601156 200.0 TG CG... PASS 1/2 0 None None None None None None None None None None
View t30541_annotated_calls 17 rs9910741
dbSNP Clinvar
8742862 72.0 C G,T PASS 1/2 0 None None None 0.15635 0.15790 None None None None None None PIK3R6|0.019330881|74.51%
View t30541_annotated_calls 18 . 911377 84.0 AT TT... PASS 1/2 0 None None None None None None None None None ADCYAP1|0.147854671|43.32%
View t30541_annotated_calls 17 . 61958964 200.0 TT CT... PASS 1/2 0 None None None None None None None None None GH2|0.032825115|68.24%
View t30541_annotated_calls 18 . 51933118 73.0 TT GT... PASS 1/2 0 None None None None None None None None None None
View t30541_annotated_calls 18 . 55144502 200.0 CA TA... PASS 1/2 0 None None None None None None None None None ONECUT2|0.569949566|12.99%
View t30541_annotated_calls 19 . 6921713 200.0 GT TT... sb 1/2 0 None None None None None None None None None ADGRE1|0.00211453|90.69%
View t30541_annotated_calls 19 . 7087712 92.0 AG TG... PASS 1/2 0 None None None None None None None None None ZNF557|0.001498664|92.79%
View t30541_annotated_calls 19 rs145021272,rs879239833,rs761517777,rs56195718
dbSNP Clinvar
21116763 200.0 ATGTG ATG,A PASS 1/2 0 None None None 0.47065 0.47060 None None None None None None ZNF85|0.001076203|95.02%
View t30541_annotated_calls 19 rs200551741,rs587772494,rs869098102
dbSNP Clinvar
44931670 200.0 TAA TA,T PASS 1/2 0 None None None 0.38680 None None None None None None ZNF229|0.00082353|96.52%
View t30541_annotated_calls X rs111626117,rs782707239
dbSNP Clinvar
48025596 200.0 C CC... PASS 1/2 0 None None None None None None None None None None
View t30541_annotated_calls 20 rs3091730,rs878996781,rs397698700
dbSNP Clinvar
47750971 200.0 GA G,... PASS 1/2 0 None None None 0.01098 0.28830 None None None None None None STAU1|0.626363807|10.91%
View t30541_annotated_calls 19 rs143540272
dbSNP Clinvar
55049088 200.0 A AA... PASS 1/2 0 None None None None None None None None None KIR3DX1|0.000180892|99.81%
View t30541_annotated_calls 19 rs11665796
dbSNP Clinvar
55278546 200.0 G A,T PASS 1/2 0 None None None 0.02895 0.02895 None None None None None None KIR3DL1|0.000640018|97.61%,KIR2DL4|0.000718329|97.16%,KIR2DL3|0.000872917|96.18%
View t30541_annotated_calls 1 rs112413214,rs35148324
dbSNP Clinvar
2241376 200.0 C CT... PASS 1/2 0 None None None None None None None None None SKI|0.223175636|34.04%
View t30541_annotated_calls X rs782228977
dbSNP Clinvar
52633145 200.0 C CC... PASS 1/2 0 None None None 0.45563 None None None None None None None
View t30541_annotated_calls 1 . 222711765 85.0 CA TA... PASS 1/2 0 None None None None None None None None None HHIPL2|0.027876528|70.48%
View t30541_annotated_calls 1 . 11709052 200.0 CC GC... PASS 1/2 0 None None None None None None None None None FBXO2|0.047108559|63.55%
View t30541_annotated_calls 1 . 161593880 200.0 TC CC... PASS 1/2 0 None None None None None None None None None FCGR3A|0.001574377|92.43%,FCGR2B|0.005666385|85.02%,FCGR3B|0.001357203|93.56%
View t30541_annotated_calls 1 rs113491600,rs10528066
dbSNP Clinvar
204988603 200.0 C CC... PASS 1/2 0 None None None 0.69880 None None None None None None NFASC|0.566567202|13.14%
View t30541_annotated_calls 2 rs111928251,rs66951840
dbSNP Clinvar
20455176 116.0 GT TT,G PASS 1/2 0 None None None 0.42073 0.42070 None None None None None None PUM2|0.691632213|8.73%
View t30541_annotated_calls 2 . 178149026 200.0 TC CC... PASS 1/2 0 None None None None None None None None None NFE2L2|0.563249896|13.23%
View t30541_annotated_calls 2 . 218758123 200.0 G GC... PASS 1/2 0 None None None None None None None None None TNS1|0.891163744|3.64%
View t30541_annotated_calls 3 rs748097159,rs796496337
dbSNP Clinvar
106823388 94.0 GAA G,... PASS 1/2 0 None None None None None None None None None None