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

KISS1,
KISS1 ?Hypogonadotropic hypogonadism 13 with or without anosmia, 614842 (3)

Genes at Clinical Genomics Database

KISS1,
KISS1 Hypogonadotropic hypogonadism 13 with or without anosmia

Genes at HGMD

Summary

Number of Variants: 5
Number of Genes: 5

Export to: CSV
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ASMTL

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 h1esc_mtesr1 samtools indel X rs113329185
dbSNP Clinvar
1522163 222.0 CA C PASS 0/1 37 FRAME_SHIFT+STOP_LOST HIGH None 0.07688 0.07688 0.10279 None None None None None None ASMTL|0.001996891|91.03%

KISS1

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 h1esc_mtesr1 samtools indel 1 rs71745629
dbSNP Clinvar
204159611 208.0 CT C PASS 0/1 27 FRAME_SHIFT+STOP_LOST HIGH None 0.22185 0.22180 0.16724 None None None None None None KISS1|0.005171021|85.61%

KLK10

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 h1esc_mtesr1 samtools indel 19 . 51518037 221.0 CT... CT... PASS 0/1 25 FRAME_SHIFT+STOP_LOST HIGH None None None None None None None KLK10|0.008198178|82.47%

NIPA2

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 h1esc_mtesr1 samtools indel 15 . 23006215 222.0 CC... CCTT PASS 0/1 26 FRAME_SHIFT+STOP_LOST HIGH None None None None None None None NIPA2|0.228631878|33.48%

ZAN

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 h1esc_mtesr1 samtools indel 7 . 100385561 222.0 GG... GG PASS 0/1 31 FRAME_SHIFT+STOP_LOST HIGH None None None None None None None ZAN|0.002173013|90.5%
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