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

HNF1A,
HNF1A {Diabetes mellitus, noninsulin-dependent, 2}, 125853 (3)
{Diabetes mellitus, insulin-dependent}, 222100 (3)
Renal cell carcinoma, 144700 (3)
MODY, type III, 600496 (3)
Hepatic adenoma, somatic, 142330 (3)
Diabetes mellitus, insulin-dependent, 20, 612520 (3)

Genes at Clinical Genomics Database

HNF1A,
HNF1A Renal cell carcinoma, nonpapillary clear cell
Liver adenomatosis
Maturity onset diabetes of the young, type III

Genes at HGMD

Summary

Number of Variants: 15
Number of Genes: 1

Export to: CSV

HNF1A

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 pc751_s1 12 rs1169305
dbSNP
121437382 603.01 A G PASS 1/1 26 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.98522 0.98520 0.01311 1.00 0.00 None None None None None None None
View pc751_s1 12 rs55834942
dbSNP
121437114 456.22 G A PASS 0/1 43 SYNONYMOUS_CODING LOW SILENT 0.06290 0.06290 0.14065 None None None None None None None
View pc751_s1 12 rs2464196
dbSNP
121435427 498.91 G A PASS 0/1 78 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.31769 0.31770 0.24735 0.22 0.06 None None None None None None None
View pc751_s1 12 rs2259820
dbSNP
121435342 495.81 C T PASS 0/1 93 SYNONYMOUS_CODING LOW SILENT 0.31669 0.31670 0.24639 None None None None None None None
View pc751_s1 12 rs56348580
dbSNP
121432117 840.92 G C PASS 0/1 106 SYNONYMOUS_CODING LOW SILENT 0.18111 0.18110 0.23577 None None None None None None None
View pc751_s1 12 rs1169288
dbSNP
121416650 335.25 A C PASS 0/1 43 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.29852 0.29850 0.26250 0.07 0.95 None None None None None None None
View pc751_s1 12 rs1169289
dbSNP
121416622 311.61 C G PASS 0/1 46 SYNONYMOUS_CODING LOW SILENT 0.42851 0.42850 0.41748 None None None None None None None
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 pc751_s1 12 rs4765623
dbSNP
125320850 1124.69 C T PASS 0/1 118 None None None 0.41613 0.41610 None None None None None None None
View pc751_s1 12 rs2900333
dbSNP
14653867 545.51 C T PASS 0/1 54 None None None 0.26697 0.26700 None None None None None None None
View pc751_s1 12 rs4767364
dbSNP
112521448 562.07 G A PASS 0/1 51 None None None 0.62660 0.62660 None None None None None None None
View pc751_s1 12 rs4474514
dbSNP
88953959 652.14 G A PASS 0/1 78 None None None 0.62620 0.62620 None None None None None None None
View pc751_s1 12 rs3782181
dbSNP
88953561 1095.24 C A PASS 0/1 105 None None None 0.62101 0.62100 None None None None None None None
View pc751_s1 12 rs995030
dbSNP
88890671 1220.12 A G PASS 0/1 98 None None None 0.64337 0.64340 None None None None None None None
View pc751_s1 12 rs11169552
dbSNP
51155663 504.78 C T PASS 0/1 64 None None None 0.24840 0.24840 None None None None None None None
View pc751_s1 12 rs10875943
dbSNP
49676010 577.59 T C PASS 0/1 80 None None None 0.58187 0.58190 None None None None None None None