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GROUPS:

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INDIVIDUALS:

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VARIANT EFFECT FUNCTIONAL CLASS IMPACT
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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 at Omim

BEST1, CP, HFE, TF, TMPRSS6,
BEST1 Bestrophinopathy, autosomal recessive, 611809 (3)
Macular dystrophy, vitelliform, 2, 153700 (3)
Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma, 193220 (3)
Retinitis pigmentosa, concentric, 613194 (3)
Retinitis pigmentosa-50, 613194 (3)
Vitreoretinochoroidopathy, 193220 (3)
CP Cerebellar ataxia, 604290 (3)
Hemosiderosis, systemic, due to aceruloplasminemia, 604290 (3)
[Hypoceruloplasminemia, hereditary], 604290 (3)
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)
TF Atransferrinemia, 209300 (3)
TMPRSS6 Iron-refractory iron deficiency anemia, 206200 (3)

Genes at Clinical Genomics Database

BEST1, CP, HFE, TF, TMPRSS6,
BEST1 Vitreoretinochoroidopathy
Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma
CP Aceruloplasminemia
Hypoceruloplasminemia
HFE Hemochromatosis
TF Atransferrinemia
TMPRSS6 Iron-refractory iron deficiency anemia

Genes at HGMD

Summary

Number of Variants: 13
Number of Genes: 12

Export to: CSV
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BEST1

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 v2649_v1_non-filtered_2017-07-24_10_39_21 11 rs17185413
dbSNP Clinvar
61730553 871.266 T C PASS 0/1 479 NON_SYNONYMOUS_CODING MODERATE None 0.10443 0.10440 0.19076 0.00 0.11 None None None None None None BEST1|0.0975286|51.61%,FTH1|0.995222163|0.79%

BMP6

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 v2649_v1_non-filtered_2017-07-24_10_39_21 6 rs377443730
dbSNP Clinvar
7727529 563.485 A G PASS 0/1 271 NON_SYNONYMOUS_CODING MODERATE None 0.00009 0.58 0.00 None None None None None None None

CP

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 v2649_v1_non-filtered_2017-07-24_10_39_21 3 rs701753
dbSNP Clinvar
148916235 73.8396 T A PASS 1/1 8 NON_SYNONYMOUS_CODING MODERATE None 0.86222 0.86220 0.14413 1.00 0.00 None None None None None None CP|0.122810298|46.99%

CYBRD1

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 v2649_v1_non-filtered_2017-07-24_10_39_21 2 rs10455
dbSNP Clinvar
172411273 625.039 G A PASS 0/1 323 NON_SYNONYMOUS_CODING MODERATE None 0.68311 0.68310 0.26611 0.39 0.00 None None None None None None CYBRD1|0.074895828|56.32%

HEPH

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 v2649_v1_non-filtered_2017-07-24_10_39_21 X rs5919015
dbSNP Clinvar
65382685 1578.17 T C PASS 1/1 165 NON_SYNONYMOUS_CODING MODERATE None 0.92080 0.92080 0.21750 1.00 0.00 None None None None None None None

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 v2649_v1_non-filtered_2017-07-24_10_39_21 6 rs1800562
dbSNP Clinvar
26093141 7002.51 G A PASS 1/1 740 NON_SYNONYMOUS_CODING MODERATE None 0.01258 0.01258 0.04752 0.00 0.92 None None None None None None HFE|0.019555735|74.41%

HPR

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 v2649_v1_non-filtered_2017-07-24_10_39_21 16 rs11642506
dbSNP Clinvar
72107865 646.669 C T PASS 0/1 289 NON_SYNONYMOUS_CODING MODERATE None 0.02456 0.02456 0.04452 0.21 0.02 None None None None None None None

IREB2

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 v2649_v1_non-filtered_2017-07-24_10_39_21 15 rs2958720
dbSNP Clinvar
78758677 680.28 G C PASS 1/1 72 NON_SYNONYMOUS_CODING MODERATE None 0.97764 0.97760 0.03321 0.25 0.00 None None None None None None IREB2|0.445763934|18.38%
View v2649_v1_non-filtered_2017-07-24_10_39_21 15 rs2230940
dbSNP Clinvar
78780104 1074.65 T C PASS 1/1 113 NON_SYNONYMOUS_CODING MODERATE None 0.97604 0.97600 0.03521 1.00 0.00 None None None None None None IREB2|0.445763934|18.38%

MON1B

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 v2649_v1_non-filtered_2017-07-24_10_39_21 16 rs759633237
dbSNP Clinvar
77228565 666.135 C T PASS 0/1 291 NON_SYNONYMOUS_CODING MODERATE None 0.21 0.23 None None None None None None MON1B|0.032029685|68.61%

SYCE1L

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 v2649_v1_non-filtered_2017-07-24_10_39_21 16 rs4888607
dbSNP Clinvar
77233394 2468.51 A G PASS 1/1 257 NON_SYNONYMOUS_CODING MODERATE None 0.98762 0.98760 0.00986 1.00 0.00 None None None None None None MON1B|0.032029685|68.61%,SYCE1L|0.000938704|95.86%

TF

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 v2649_v1_non-filtered_2017-07-24_10_39_21 3 rs2692696
dbSNP Clinvar
133485133 5250.33 A G PASS 1/1 546 NON_SYNONYMOUS_CODING MODERATE None 0.99321 0.99320 0.00038 1.00 0.00 None None None None None None TF|0.883350768|3.9%

TMPRSS6

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 v2649_v1_non-filtered_2017-07-24_10_39_21 22 rs855791
dbSNP Clinvar
37462936 260.42 A G PASS 0/1 180 NON_SYNONYMOUS_CODING MODERATE None 0.60463 0.60460 0.34138 1.00 0.00 None None None None None None None
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