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
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Genes at Omim

CASP12, CLEC7A, DNAH11, FUT2, HLA-A, HLA-DPB1, HPS4, IGSF3, NDUFB9, PTPRQ,
CASP12 {Sepsis, susceptibility to} (3)
CLEC7A {Aspergillosis, susceptibility to}, 614079 (3)
Candidiasis, familial, 4, autosomal recessive, 613108 (3)
DNAH11 Ciliary dyskinesia, primary, 7, with or without situs inversus, 611884 (3)
FUT2 {Vitamin B12 plasma level QTL1}, 612542 (3)
{Norwalk virus infection, resistance to} (3)
[Bombay phenotype] (3)
HLA-A {Hypersensitivity syndrome, carbamazepine-induced, susceptibility to}, 608579 (3)
HLA-DPB1 {Beryllium disease, chronic, susceptibility to} (3)
HPS4 Hermansky-Pudlak syndrome 4, 614073 (3)
IGSF3 ?Lacrimal duct defect, 149700 (3)
NDUFB9 ?Mitochondrial complex I deficiency, 252010 (3)
PTPRQ Deafness, autosomal recessive 84A, 613391 (3)

Genes at Clinical Genomics Database

CLEC7A, DNAH11, HLA-A, HPS4, IGSF3, PTPRQ,
CLEC7A Candidiasis, familial, 4
DNAH11 Ciliary dyskinesia, primary, 7
HLA-A Drug-induced toxicity, susceptibility to
HPS4 Hermansky-Pudlak syndrome 4
IGSF3 Lacrimal duct defect
PTPRQ Deafness, autosomal recessive 84

Genes at HGMD

Summary

Number of Variants: 105
Number of Genes: 90

Export to: CSV

ZNF717

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 mm170241ct 3 rs79635065
dbSNP
75786827 6386.77 A T . 0/1 358 STOP_GAINED HIGH NONSENSE None None None None None None None
View mm170241ct 3 rs78906544
dbSNP
75786916 2516.77 C A . 0/1 480 STOP_GAINED HIGH NONSENSE None None None None None None None
View mm170241ct 3 rs74740396
dbSNP
75787127 480.77 G T . 0/1 407 STOP_GAINED HIGH NONSENSE None None None None None None None

ZNF80

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 mm170241ct 3 rs3732781
dbSNP
113955187 1729.77 A C . 0/1 108 STOP_GAINED HIGH NONSENSE 0.18550 0.18550 0.20637 None None None None None None None

ZYX

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 mm170241ct 7 . 143087676 12.99 C A LowQual 0/1 14 STOP_GAINED HIGH NONSENSE None None None None None None None