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

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 17
Number of Genes: 1

Export to: CSV

KIR2DL1

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 hp37_1_filt_10x 19 rs201644346
dbSNP
55295215 723.77 A G PASS 0/1 82 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.42 0.06 None None None None None None None
View hp37_1_filt_10x 19 rs586234
dbSNP
55294969 214.77 A G PASS 0/1 19 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View hp37_1_filt_10x 19 rs666590
dbSNP
55286854 1133.77 A G PASS 0/1 95 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00080 0.00080 1.00 0.00 None None None None None None None
View hp37_1_filt_10x 19 rs28465191
dbSNP
55286822 478.77 C T PASS 0/1 88 SYNONYMOUS_CODING LOW SILENT 0.14820 None None None None None None None
View hp37_1_filt_10x 19 rs2916003
dbSNP
55286809 248.77 G A PASS 0/1 80 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00499 0.00499 0.02 0.07 None None None None None None None
View hp37_1_filt_10x 19 rs147072532
dbSNP
55286796 326.77 G A PASS 0/1 72 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00040 0.00040 0.29 0.01 None None None None None None None
View hp37_1_filt_10x 19 rs12982263
dbSNP
55286795 819.77 T C PASS 0/1 72 SYNONYMOUS_CODING LOW SILENT 0.17352 0.17350 0.06462 None None None None None None None
View hp37_1_filt_10x 19 rs62121640
dbSNP
55286781 246.77 G A PASS 0/1 63 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00040 0.00040 0.00016 0.06 0.03 None None None None None None None
View hp37_1_filt_10x 19 rs111799279
dbSNP
55286769 366.77 C A PASS 0/1 64 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00008 0.22 0.00 None None None None None None None
View hp37_1_filt_10x 19 rs72626292,rs11673144
dbSNP
55286650 415.77 T C PASS 0/1 35 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.26617 0.26620 0.28548 1.00 0.00 None None None None None None None
View hp37_1_filt_10x 19 rs80323556
dbSNP
55285082 51.77 T C PASS 0/1 30 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.00040 0.00040 1.00 0.00 None None None None None None None
View hp37_1_filt_10x 19 rs76991396
dbSNP
55285053 75.77 T G PASS 0/1 42 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View hp37_1_filt_10x 19 rs687885
dbSNP
55285045 501.77 G T PASS 0/1 42 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.37 0.00 None None None None None None None
View hp37_1_filt_10x 19 rs74415453
dbSNP
55284987 53.77 G A PASS 0/1 64 SYNONYMOUS_CODING LOW SILENT 0.00040 0.00040 None None None None None None None
View hp37_1_filt_10x 19 rs687485
dbSNP
55284986 568.77 C A PASS 0/1 65 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.02 0.11 None None None None None None None
View hp37_1_filt_10x 19 rs687000
dbSNP
55284858 363.77 G A PASS 0/1 27 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View hp37_1_filt_10x 19 rs368074906
dbSNP
55281312 86.77 T A PASS 0/1 26 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00339 0.00340 1.00 0.00 None None None None None None None