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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
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Genes at Omim

ADH1C, NDUFS6, NPSR1,
ADH1C {Parkinson disease, susceptibility to}, 168600 (3)
{Alcohol dependence, protection against}, 103780 (3)
NDUFS6 Mitochondrial complex I deficiency, nuclear type 9, 618232 (3)
NPSR1 {Asthma, susceptibility to, 2}, 608584 (3)

Genes at Clinical Genomics Database

NDUFS6,
NDUFS6 Mitochondrial complex I deficiency

Genes at HGMD

Summary

Number of Variants: 21
Number of Genes: 21

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 pm-286 final 4 rs283413
dbSNP Clinvar
100268190 924.77 A C PASS 1/1 25 STOP_LOST HIGH None 0.99281 0.99280 0.00839 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 pm-286 final 12 rs1129649
dbSNP Clinvar
6948468 410.77 T C PASS 0/1 38 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 pm-286 final 4 rs2315552
dbSNP Clinvar
17627294 604.77 A G PASS 0/1 36 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 pm-286 final 2 rs10205459
dbSNP Clinvar
172180771 1245.77 A G PASS 1/1 37 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 pm-286 final 8 rs6578185
dbSNP Clinvar
142458053 435.77 A G PASS 0/1 28 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 pm-286 final 5 rs4147773
dbSNP Clinvar
1814783 835.77 T C PASS 1/1 24 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 pm-286 final 19 rs306457
dbSNP Clinvar
56499279 945.77 G C PASS 0/1 53 STOP_LOST HIGH None 0.72464 0.72460 0.26672 None None None None None None NLRP8|0.000383915|99.05%

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 pm-286 final 7 rs10275028
dbSNP Clinvar
34889222 986.77 T C PASS 0/1 61 STOP_LOST HIGH None 0.26717 0.26720 0.36353 None None None None None None NPSR1|0.153358604|42.47%

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 pm-286 final 14 rs1953558
dbSNP Clinvar
20698239 1892.77 T C PASS 0/1 137 STOP_LOST HIGH None 0.46426 0.46430 None None None None None None None

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 pm-286 final 11 rs12419602
dbSNP Clinvar
5877979 277.77 T A PASS 0/1 39 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 pm-286 final 16 rs8054182
dbSNP Clinvar
81145807 3085.77 C G PASS 1/1 83 STOP_LOST HIGH None 0.83666 0.83670 0.08046 None None None None None None PKD1L2|0.005531409|85.17%

PNLIPRP2

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 pm-286 final 10 rs11544712
dbSNP Clinvar
118387282 401.77 A G PASS 1/1 12 STOP_LOST HIGH None 0.36222 0.36220 0.28099 None None None None None None PNLIPRP2|0.021607761|73.38%

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 pm-286 final 6 rs4535533
dbSNP Clinvar
57467100 2543.77 G C PASS 0/1 99 STOP_LOST HIGH None None None None None None None PRIM2|0.188824743|37.96%

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 pm-286 final 10 rs2505323
dbSNP Clinvar
27687225 739.77 A G PASS 0/1 46 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 pm-286 final 2 rs889830
dbSNP Clinvar
24395506 994.77 T C PASS 1/1 27 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 pm-286 final 18 rs4940595
dbSNP Clinvar
61379838 1881.77 T G PASS 0/1 131 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 pm-286 final 6 rs2842899
dbSNP Clinvar
132859609 3602.77 T A PASS 1/1 101 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 pm-286 final 12 rs79475879
dbSNP Clinvar
11174271 1365.77 T C PASS 0/1 131 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%

TGOLN2

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 pm-286 final 2 rs4240199
dbSNP Clinvar
85549868 1247.77 A G PASS 0/1 111 STOP_LOST HIGH None 0.77895 0.77900 0.33657 0.04 0.89 None None None None None None TGOLN2|0.000615886|97.82%

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 pm-286 final 7 rs4732519
dbSNP Clinvar
75621827 346.77 A G PASS 1/1 11 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 pm-286 final 11 rs9795469
dbSNP Clinvar
65713207 2445.77 T C PASS 1/1 75 STOP_LOST HIGH None 0.99940 0.99940 0.00072 None None None None None None None
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