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SHOW ONLY VARIANTS PRESENT IN COMMON GENES BETWEEN ALL THE INDIVIDUALS SELECTED
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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

ADH1C, NDUFS6, TAP2,
ADH1C {Parkinson disease, susceptibility to}, 168600 (3)
{Alcohol dependence, protection against}, 103780 (3)
NDUFS6 Mitochondrial complex I deficiency, nuclear type 9, 618232 (3)
TAP2 Bare lymphocyte syndrome, type I, due to TAP2 deficiency, 604571 (3)

Genes at Clinical Genomics Database

NDUFS6, TAP2,
NDUFS6 Mitochondrial complex I deficiency
TAP2 Bare lymphocyte syndrome, type I

Genes at HGMD

Summary

Number of Variants: 26
Number of Genes: 26

Export to: CSV
  • Page 1 of 1

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 mm171122md 4 rs283413
dbSNP Clinvar
100268190 978.77 A C . 1/1 27 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 mm171122md 2 rs142209162
dbSNP Clinvar
132905706 251.77 A G . 0/1 34 STOP_LOST HIGH None None None None None None None ANKRD30BL|0.00124875|94.17%

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 mm171122md 8 rs3021518
dbSNP Clinvar
11296049 684.77 T A . 0/1 50 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%

CD177

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 mm171122md 19 rs201821720
dbSNP Clinvar
43865321 262.78 T A . 1/1 103 STOP_LOST HIGH None 0.71286 0.71290 None None None None None None CD177|0.000416107|98.86%

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 mm171122md 22 rs12160675
dbSNP Clinvar
20710985 242.78 A C . 1/1 13 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 mm171122md 4 rs358231
dbSNP Clinvar
22820504 641.77 A T . 0/1 48 STOP_LOST HIGH None 0.89157 0.89160 0.11608 None None None None None None None

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 mm171122md 12 rs1129649
dbSNP Clinvar
6948468 1863.77 T C . 1/1 58 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 mm171122md 4 rs2315552
dbSNP Clinvar
17627294 1160.77 A G . 0/1 79 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 mm171122md 2 rs10205459
dbSNP Clinvar
172180771 1021.77 A G . 0/1 64 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 mm171122md 8 rs6578185
dbSNP Clinvar
142458053 1801.77 A G . 0/1 131 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 mm171122md 5 rs4147773
dbSNP Clinvar
1814783 924.77 T C . 1/1 29 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 mm171122md 19 rs306457
dbSNP Clinvar
56499279 989.77 G C . 0/1 81 STOP_LOST HIGH None 0.72464 0.72460 0.26672 None None None None None None NLRP8|0.000383915|99.05%

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 mm171122md 12 rs15895
dbSNP Clinvar
113448288 1737.77 A G . 1/1 49 STOP_LOST HIGH None 0.86442 0.86440 0.25027 None None None None None None OAS2|0.001433626|93.17%

OR11H7

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 mm171122md 14 rs1953558
dbSNP Clinvar
20698239 1896.77 T C . 0/1 149 STOP_LOST HIGH None 0.46426 0.46430 None None None None None None None

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 mm171122md 6 rs1011985
dbSNP Clinvar
29385772 3377.77 G C . 1/1 94 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 mm171122md 11 rs12419602
dbSNP Clinvar
5877979 1437.77 T A . 0/1 99 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 mm171122md 16 rs8054182
dbSNP Clinvar
81145807 5239.77 C G . 1/1 151 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 mm171122md 6 rs4535533
dbSNP Clinvar
57467100 2150.77 G C . 0/1 124 STOP_LOST HIGH None None None None None None None PRIM2|0.188824743|37.96%

PSG7

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 mm171122md 19 rs113247044
dbSNP Clinvar
43439694 3124.77 A G . 0/1 207 STOP_LOST HIGH None 0.13958 0.13960 0.18197 None None None None None None None

PTCHD3

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 mm171122md 10 rs2505323
dbSNP Clinvar
27687225 1196.77 A G . 1/1 35 STOP_LOST HIGH None 0.55012 0.55010 0.36821 None None None None None None PTCHD3|0.001856639|91.39%

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 mm171122md 2 rs889830
dbSNP Clinvar
24395506 774.77 T C . 1/1 24 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 mm171122md 18 rs4940595
dbSNP Clinvar
61379838 1110.77 T G . 0/1 101 STOP_LOST HIGH None 0.34001 None None None None None None SERPINB11|0.015027277|77.1%

TAP2

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 mm171122md 6 rs241448
dbSNP Clinvar
32796685 535.77 A G . 0/1 56 STOP_LOST HIGH None 0.31110 0.31110 0.18023 None None None None None None TAP2|0.028431787|70.24%

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 mm171122md 7 rs4732519
dbSNP Clinvar
75621827 1525.77 A G . 1/1 48 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 mm171122md 11 rs9795469
dbSNP Clinvar
65713207 3855.77 T C . 1/1 120 STOP_LOST HIGH None 0.99940 0.99940 0.00072 None None None None None None None

ZNF443

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 mm171122md 19 rs28559848
dbSNP Clinvar
12540971 508.77 T A . 0/1 68 STOP_LOST HIGH None 0.27676 0.27680 None None None None None None ZNF443|0.000694602|97.28%
  • Page 1 of 1