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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
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+ Genes 1

Genes:
HFE,

+ Genes associated with diseases 1

Genes at Omim

HFE,
HFE {Microvascular complications of diabetes 7}, 612635 (3)
{Porphyria cutanea tarda, susceptibility to}, 176100 (3)
{Porphyria variegata, susceptibility to}, 176200 (3)
Hemochromatosis, 235200 (3)
[Transferrin serum level QTL2], 614193 (3)
{Alzheimer disease, susceptibility to}, 104300 (3)

Genes at Clinical Genomics Database

HFE,
HFE Hemochromatosis

Genes at HGMD

Summary

Number of Variants: 14
Number of Genes: 1

Export to: CSV
  • Page 1 of 1

HFE
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 164649418_s1 ann select dbsnp 6 . 26093008 136.0 G A PASS 0/1 29 SYNONYMOUS_CODING LOW None None None None None None None HFE|0.019555735|74.41%
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 164649418_s1 ann select dbsnp 6 . 26099050 211.0 T G PASS 0/1 37 None None None None None None None None None None
View 164649418_s1 ann select dbsnp 6 . 26097156 277.0 T C PASS 0/1 49 None None None None None None None None None HFE|0.019555735|74.41%
View 164649418_s1 ann select dbsnp 6 . 26096966 276.0 G A PASS 0/1 52 None None None None None None None None None HFE|0.019555735|74.41%
View 164649418_s1 ann select dbsnp 6 . 26096818 316.0 T C PASS 0/1 57 None None None None None None None None None HFE|0.019555735|74.41%
View 164649418_s1 ann select dbsnp 6 . 26096147 7.0 C CT LowGQX 0/1 0 None None None None None None None None None HFE|0.019555735|74.41%
View 164649418_s1 ann select dbsnp 6 . 26095508 172.0 T TA PASS 0/1 0 None None None None None None None None None HFE|0.019555735|74.41%
View 164649418_s1 ann select dbsnp 6 . 26095437 118.0 C T PASS 0/1 24 None None None None None None None None None HFE|0.019555735|74.41%
View 164649418_s1 ann select dbsnp 6 . 26094139 235.0 G A PASS 0/1 47 None None None None None None None None None HFE|0.019555735|74.41%
View 164649418_s1 ann select dbsnp 6 . 26090224 131.0 T C PASS 0/1 29 None None None None None None None None None HFE|0.019555735|74.41%
View 164649418_s1 ann select dbsnp 6 . 26090153 158.0 C G PASS 0/1 32 None None None None None None None None None HFE|0.019555735|74.41%
View 164649418_s1 ann select dbsnp 6 . 26089132 12.0 T G LowGQX;HighDPFRatio 0/1 1 None None None None None None None None None HFE|0.019555735|74.41%
View 164649418_s1 ann select dbsnp 6 . 26101212 140.0 A C PASS 0/1 37 None None None None None None None None None None
View 164649418_s1 ann select dbsnp 6 . 26089108 6.0 T G LowGQX 0/1 13 None None None None None None None None None HFE|0.019555735|74.41%
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