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

ACTN3, ADH1C,
ACTN3 [Alpha-actinin-3 deficiency], 617749 (3)
[Sprinting performance], 617749 (3)
ADH1C {Parkinson disease, susceptibility to}, 168600 (3)
{Alcohol dependence, protection against}, 103780 (3)

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 21
Number of Genes: 21

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 fakhrieh_salemi gatk snp 11 rs1815739
dbSNP Clinvar
66328095 1464.77 T C PASS 1/1 38 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 fakhrieh_salemi gatk snp 4 rs283413
dbSNP Clinvar
100268190 618.77 A C PASS 1/1 16 STOP_LOST HIGH None 0.99281 0.99280 0.00839 None None None None None None None

ATP8B3

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 fakhrieh_salemi gatk snp 19 rs60482625
dbSNP Clinvar
1783027 378.77 T C PASS 0/1 21 STOP_LOST HIGH None 0.08966 0.08966 0.09237 1.81 None None None None None None ATP8B3|0.003576519|87.64%

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 fakhrieh_salemi gatk snp 4 rs358231
dbSNP Clinvar
22820504 680.77 A T PASS 1/1 18 STOP_LOST HIGH None 0.89157 0.89160 0.11608 0.67 None None None None None None None

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 fakhrieh_salemi gatk snp 2 rs10205459
dbSNP Clinvar
172180771 1006.77 A G PASS 1/1 29 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 fakhrieh_salemi gatk snp 8 rs6578185
dbSNP Clinvar
142458053 1724.77 A G PASS 1/1 49 STOP_LOST HIGH None 0.34645 0.34640 0.40823 0.38 None None None None None None MROH5|0.004135597|86.82%

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 fakhrieh_salemi gatk snp 19 rs306457
dbSNP Clinvar
56499279 1506.77 G C PASS 1/1 40 STOP_LOST HIGH None 0.72464 0.72460 0.26672 -0.54 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 fakhrieh_salemi gatk snp 12 rs15895
dbSNP Clinvar
113448288 379.77 A G PASS 0/1 20 STOP_LOST HIGH None 0.86442 0.86440 0.25027 0.32 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 fakhrieh_salemi gatk snp 14 rs1953558
dbSNP Clinvar
20698239 554.77 T C PASS 0/1 37 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 fakhrieh_salemi gatk snp 6 rs1011985
dbSNP Clinvar
29385772 567.77 G C PASS 0/1 28 STOP_LOST HIGH None 0.76837 0.76840 None None None None None None OR5V1|0.002888171|88.86%

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 fakhrieh_salemi gatk snp 16 rs8054182
dbSNP Clinvar
81145807 2792.77 C G PASS 1/1 86 STOP_LOST HIGH None 0.83666 0.83670 0.08046 -2.08 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 fakhrieh_salemi gatk snp 6 rs4535533
dbSNP Clinvar
57467100 497.77 G C PASS 0/1 34 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 fakhrieh_salemi gatk snp 10 rs2505323
dbSNP Clinvar
27687225 344.77 A G PASS 1/1 11 STOP_LOST HIGH None 0.55012 0.55010 0.36821 0.31 None None None None None None PTCHD3|0.001856639|91.39%

RP11-487E13.1

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 fakhrieh_salemi gatk snp 4 rs72702906
dbSNP Clinvar
178163809 313.77 T G PASS 0/1 24 STOP_LOST HIGH None 0.04333 0.04333 None None None None None None None

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 fakhrieh_salemi gatk snp 2 rs889830
dbSNP Clinvar
24395506 385.77 T C PASS 1/1 11 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 fakhrieh_salemi gatk snp 18 rs4940595
dbSNP Clinvar
61379838 187.77 T G PASS 0/1 34 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 fakhrieh_salemi gatk snp 6 rs2842899
dbSNP Clinvar
132859609 1727.77 T A PASS 1/1 49 STOP_LOST HIGH None 0.80571 0.80570 0.23857 None None None None None None None

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 fakhrieh_salemi gatk snp 2 rs4240199
dbSNP Clinvar
85549868 406.77 A G PASS 0/1 28 STOP_LOST HIGH None 0.77895 0.77900 0.33657 0.04 0.89 1.27 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 fakhrieh_salemi gatk snp 7 rs4732519
dbSNP Clinvar
75621827 794.77 A G PASS 1/1 23 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 fakhrieh_salemi gatk snp 11 rs9795469
dbSNP Clinvar
65713207 2406.77 T C PASS 1/1 70 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 fakhrieh_salemi gatk snp 19 rs28559848
dbSNP Clinvar
12540971 318.77 T A PASS 0/1 36 STOP_LOST HIGH None 0.27676 0.27680 0.95 None None None None None None ZNF443|0.000694602|97.28%
  • Page 1 of 1