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EXCLUDE VARIANTS AT VARISNP
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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
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Genes at Omim

ACTN3, ADH1C, BDP1, NDUFS6, NPPA, NPSR1,
ACTN3 [Alpha-actinin-3 deficiency], 617749 (3)
[Sprinting performance], 617749 (3)
ADH1C {Parkinson disease, susceptibility to}, 168600 (3)
{Alcohol dependence, protection against}, 103780 (3)
BDP1 ?Deafness, autosomal recessive 112, 618257 (3)
NDUFS6 Mitochondrial complex I deficiency, nuclear type 9, 618232 (3)
NPPA Atrial fibrillation, familial, 6, 612201 (3)
Atrial standstill 2, 615745 (3)
NPSR1 {Asthma, susceptibility to, 2}, 608584 (3)

Genes at Clinical Genomics Database

NDUFS6, NPPA,
NDUFS6 Mitochondrial complex I deficiency
NPPA Atrial fibrillation, familial, 6
Atrial standstill 2

Genes at HGMD

Summary

Number of Variants: 27
Number of Genes: 27

Export to: CSV
  • Page 1 of 1

ACTN3

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_53.variant16 11 rs1815739
dbSNP Clinvar
66328095 271.98 T C PASS 1/1 83 STOP_LOST HIGH None 0.59924 0.59920 0.35908 None None None None None None None

ADH1C

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_53.variant16 4 rs283413
dbSNP Clinvar
100268190 1081.15 A C PASS 1/1 46 STOP_LOST HIGH None 0.99281 0.99280 0.00839 None None None None None None None

ANKRD30BL

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_53.variant16 2 rs142209162
dbSNP Clinvar
132905706 939.81 A G PASS 0/1 108 STOP_LOST HIGH None None None None None None None ANKRD30BL|0.00124875|94.17%

BDP1

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_53.variant16 5 rs199721728
dbSNP Clinvar
70860710 277.15 T G PASS 0/1 16 STOP_LOST HIGH None 0.00040 0.00040 0.00077 None None None None None None BDP1|0.020559057|73.91%

C8orf12

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_53.variant16 8 rs3021518
dbSNP Clinvar
11296049 2137.79 T A PASS 0/1 222 STOP_LOST HIGH None 0.07927 0.07927 None None None None None None FAM167A-AS1|0.000825171|96.52%,FAM167A|0.032787665|68.25%

FAM230A

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_53.variant16 22 rs12160675
dbSNP Clinvar
20710985 1274.45 A C PASS 1/1 19 STOP_LOST HIGH None 0.44908 0.44910 None None None None None None FAM230A|0.000608157|97.89%,USP41|0.001419633|93.25%

GBA3

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_53.variant16 4 rs358231
dbSNP Clinvar
22820504 630.1 A T PASS 0/1 94 STOP_LOST HIGH None 0.89157 0.89160 0.11608 None None None None None None None

INMT

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_53.variant16 7 rs61741736
dbSNP Clinvar
30795466 2479.83 G C PASS 0/1 131 STOP_LOST HIGH None 0.01238 0.01238 0.02583 None None None None None None INMT|0.002760488|89.12%

LEPREL2

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_53.variant16 12 rs1129649
dbSNP Clinvar
6948468 327.76 T C PASS 0/1 69 STOP_LOST HIGH None 0.37879 0.37880 0.34588 0.45 0.00 None None None None None None P3H3|0.042788046|64.86%

MED28

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_53.variant16 4 rs2315552
dbSNP Clinvar
17627294 5242.18 A G PASS 0/1 156 STOP_LOST HIGH None 0.48263 0.48260 None None None None None None MED28|0.193447823|37.48%

METTL8

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_53.variant16 2 rs10205459
dbSNP Clinvar
172180771 3975.95 A G PASS 1/1 111 STOP_LOST HIGH None 0.99820 0.99820 0.00241 None None None None None None METTL8|0.246340052|31.91%

MROH5

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_53.variant16 8 rs6578185
dbSNP Clinvar
142458053 2253.36 A G PASS 1/1 167 STOP_LOST HIGH None 0.34645 0.34640 0.40823 None None None None None None MROH5|0.004135597|86.82%

NDUFS6

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_53.variant16 5 rs4147773
dbSNP Clinvar
1814783 3095.71 T C PASS 1/1 130 STOP_LOST HIGH None 0.61302 0.61300 None None None None None None NDUFS6|0.00883288|81.82%

NLRP8

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_53.variant16 19 rs306457
dbSNP Clinvar
56499279 2199.83 G C PASS 1/1 194 STOP_LOST HIGH None 0.72464 0.72460 0.26672 None None None None None None NLRP8|0.000383915|99.05%

NPPA

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_53.variant16 1 rs5065
dbSNP Clinvar
11906068 1343.5 A G PASS 0/1 126 STOP_LOST HIGH None 0.17911 0.17910 0.24104 None None None None None None NPPA|0.833426319|5.02%

NPSR1

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_53.variant16 7 rs10275028
dbSNP Clinvar
34889222 1522.98 T C PASS 0/1 161 STOP_LOST HIGH None 0.26717 0.26720 0.36353 None None None None None None NPSR1|0.153358604|42.47%

OAS2

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_53.variant16 12 rs15895
dbSNP Clinvar
113448288 887.92 A G PASS 1/1 100 STOP_LOST HIGH None 0.86442 0.86440 0.25027 None None None None None None OAS2|0.001433626|93.17%

OR12D1

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_53.variant16 6 rs1011985
dbSNP Clinvar
29385772 1810.42 G C PASS 1/1 156 STOP_LOST HIGH None 0.76837 0.76840 None None None None None None OR5V1|0.002888171|88.86%

OR52E8

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_53.variant16 11 rs12419602
dbSNP Clinvar
5877979 5472.84 T A PASS 0/1 201 STOP_LOST HIGH None 0.37480 0.37480 0.41063 None None None None None None TRIM5|0.00243037|89.82%,OR52E8|0.008250943|82.4%

PKD1L2

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_53.variant16 16 rs8054182
dbSNP Clinvar
81145807 5986.02 C G PASS 1/1 255 STOP_LOST HIGH None 0.83666 0.83670 0.08046 None None None None None None PKD1L2|0.005531409|85.17%

PRIM2

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_53.variant16 6 rs4535533
dbSNP Clinvar
57467100 4516.6 G C PASS 0/1 248 STOP_LOST HIGH None None None None None None None PRIM2|0.188824743|37.96%

RP11-507M3.1

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_53.variant16 2 rs889830
dbSNP Clinvar
24395506 1247.37 T C PASS 1/1 45 STOP_LOST HIGH None 0.81350 0.81350 None None None None None None None

SERPINB11

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_53.variant16 18 rs4940595
dbSNP Clinvar
61379838 4639.87 T G PASS 0/1 140 STOP_LOST HIGH None 0.34001 None None None None None None SERPINB11|0.015027277|77.1%

TAAR9

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_53.variant16 6 rs2842899
dbSNP Clinvar
132859609 3366.95 T A PASS 0/1 298 STOP_LOST HIGH None 0.80571 0.80570 0.23857 None None None None None None None

TAS2R19

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_53.variant16 12 rs79475879
dbSNP Clinvar
11174271 132.18 T C PASS 0/1 189 STOP_LOST HIGH None None None None None None None PRR4|0.000493683|98.46%,TAS2R14|0.00022192|99.72%,TAS2R19|0.000335865|99.27%

TMEM120A

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_53.variant16 7 rs4732519
dbSNP Clinvar
75621827 1398.61 A G PASS 1/1 51 STOP_LOST HIGH None 1.00000 1.00000 None None None None None None None

TSGA10IP

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_53.variant16 11 rs9795469
dbSNP Clinvar
65713207 3117.72 T C PASS 1/1 165 STOP_LOST HIGH None 0.99940 0.99940 0.00072 None None None None None None None
  • Page 1 of 1