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

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: 15
Number of Genes: 15

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 15ac02303_s1 genome 4 rs283413
dbSNP Clinvar
100268190 1213.4 A C PASS 1/1 47 STOP_LOST HIGH None 0.99281 0.99280 0.00839 None None None None None None None

AMIGO1

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 15ac02303_s1 genome 1 . 110050053 9.8 T C LowGQ;LowGQX;SB 1/1 1 STOP_LOST HIGH None None None None None None None AMIGO1|0.280280899|29.08%

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 15ac02303_s1 genome 4 rs358231
dbSNP Clinvar
22820504 2236.84 A T PASS 0/1 150 STOP_LOST HIGH None 0.89157 0.89160 0.11608 None None None None None None None

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 15ac02303_s1 genome 4 rs2315552
dbSNP Clinvar
17627294 14.89 A G LowGQ;LowGQX 1/1 2 STOP_LOST HIGH None 0.48263 0.48260 None None None None None None MED28|0.193447823|37.48%

MYNN

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 15ac02303_s1 genome 3 . 169504465 4.97 G T LowGQX;SB 0/1 2 STOP_LOST HIGH None None None None None None None MYNN|0.397655846|20.92%

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 15ac02303_s1 genome 5 rs4147773
dbSNP Clinvar
1814783 82.72 T C LowGQ;LowGQX;SB 1/1 3 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 15ac02303_s1 genome 19 rs306457
dbSNP Clinvar
56499279 14.92 G C LowGQ;LowGQX 1/1 2 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 15ac02303_s1 genome 7 rs10275028
dbSNP Clinvar
34889222 1678.57 T C PASS 0/1 132 STOP_LOST HIGH None 0.26717 0.26720 0.36353 None None None None None None NPSR1|0.153358604|42.47%

P2RY8

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 15ac02303_s1 genome X . 1584372 9.8 T C LowGQ;LowGQX;SB 1/1 1 STOP_LOST HIGH None None None None None None None P2RY8|0.00479871|86.11%

PLXNA4

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 15ac02303_s1 genome 7 . 131815240 9.8 A T LowGQ;LowGQX;SB 1/1 1 STOP_LOST HIGH None None None None None None None PLXNA4|0.763178649|6.78%

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 15ac02303_s1 genome 10 rs2505323
dbSNP Clinvar
27687225 1795.49 A G PASS 0/1 123 STOP_LOST HIGH None 0.55012 0.55010 0.36821 None None None None None None PTCHD3|0.001856639|91.39%

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 15ac02303_s1 genome 18 rs4940595
dbSNP Clinvar
61379838 2356.87 T G PASS 1/1 95 STOP_LOST HIGH None 0.34001 None None None None None None SERPINB11|0.015027277|77.1%

SPAG8

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 15ac02303_s1 genome 9 rs749834749
dbSNP Clinvar
35808172 7.08 A C LowGQ;LowGQX;SB 1/1 2 STOP_LOST HIGH None None None None None None None NPR2|0.658755194|9.76%,SPAG8|0.0065184|84.04%

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 15ac02303_s1 genome 6 rs2842899
dbSNP Clinvar
132859609 7703.58 T A PASS 1/1 253 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 15ac02303_s1 genome 12 rs79475879
dbSNP Clinvar
11174271 1289.82 T C PASS 0/1 249 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%
  • Page 1 of 1