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SHOW ONLY VARIANTS PRESENT IN COMMON GENES BETWEEN ALL THE INDIVIDUALS SELECTED
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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

EIF2AK3, HYDIN, KRT10, MAP3K1, SCN3A, TMIE,
EIF2AK3 Wolcott-Rallison syndrome, 226980 (3)
HYDIN Ciliary dyskinesia, primary, 5, 608647 (3)
KRT10 Epidermolytic hyperkeratosis, 113800 (3)
Ichthyosis with confetti, 609165 (3)
Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602 (3)
MAP3K1 46XY sex reversal 6, 613762 (3)
SCN3A Epilepsy, familial focal, with variable foci 4, 617935 (3)
Epileptic encephalopathy, early infantile, 62, 617938 (3)
TMIE Deafness, autosomal recessive 6, 600971 (3)

Genes at Clinical Genomics Database

EIF2AK3, KRT10, MAP3K1, TMIE,
EIF2AK3 Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus
Wolcott-Rallison syndrome
KRT10 Ichthyosis, cyclic, with epidermolytic hyperkeratosis
Epidermolytic hyperkeratosis
Erythroderma, ichthyosiform, congenital reticular
Aaru disease
Ichthyosis with confetti
MAP3K1 46,XY sex reversal 6
TMIE Deafness, autosomal recessive 6

Genes at HGMD

Summary

Number of Variants: 79
Number of Genes: 11

Export to: CSV
  • Page 1 of 1

DENND4B

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 15ac02302_s1 genome 1 . 153907279 57.08 C . LowGQX 0 15 CODON_DELETION MODERATE None None None None None None None DENND4B|0.160276064|41.5%
View 15ac02302_s1 genome 1 . 153907280 54.07 T . LowGQX 0 15 CODON_DELETION MODERATE None None None None None None None DENND4B|0.160276064|41.5%
View 15ac02302_s1 genome 1 . 153907281 57.08 G . LowGQX 0 14 CODON_DELETION MODERATE None None None None None None None DENND4B|0.160276064|41.5%
View 15ac02302_s1 genome 1 rs3835302
dbSNP Clinvar
153907278 717.03 CC... C PASS 0/1 26 CODON_DELETION MODERATE None None None None None None None DENND4B|0.160276064|41.5%
View 15ac02302_s1 genome 1 . 153907282 57.08 C . LowGQX 0 15 CODON_DELETION MODERATE None None None None None None None DENND4B|0.160276064|41.5%
View 15ac02302_s1 genome 1 . 153907283 60.09 T . PASS 0 15 CODON_DELETION MODERATE None None None None None None None DENND4B|0.160276064|41.5%
View 15ac02302_s1 genome 1 . 153907284 60.09 G . PASS 0 15 CODON_DELETION MODERATE None None None None None None None DENND4B|0.160276064|41.5%
View 15ac02302_s1 genome 1 . 153907285 60.09 C . PASS 0 15 CODON_DELETION MODERATE None None None None None None None DENND4B|0.160276064|41.5%
View 15ac02302_s1 genome 1 . 153907286 60.09 T . PASS 0 15 CODON_DELETION MODERATE None None None None None None None DENND4B|0.160276064|41.5%
View 15ac02302_s1 genome 1 . 153907287 57.08 G . LowGQX 0 15 CODON_DELETION MODERATE None None None None None None None DENND4B|0.160276064|41.5%

EIF2AK3

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 15ac02302_s1 genome 2 rs72416210
dbSNP Clinvar
88926729 707.73 CCAG C PASS 0/1 21 CODON_DELETION MODERATE None 0.79653 0.79650 None None None None None None EIF2AK3|0.850003581|4.63%
View 15ac02302_s1 genome 2 . 88926730 42.03 C . LowGQX 0 5 CODON_DELETION MODERATE None 0.79653 0.79650 None None None None None None EIF2AK3|0.850003581|4.63%
View 15ac02302_s1 genome 2 . 88926731 39.02 A . LowGQX 0 5 CODON_DELETION MODERATE None 0.79653 0.79650 None None None None None None EIF2AK3|0.850003581|4.63%
View 15ac02302_s1 genome 2 . 88926732 42.03 G . LowGQX 0 5 CODON_DELETION MODERATE None 0.79653 0.79650 None None None None None None EIF2AK3|0.850003581|4.63%

HSP90B1

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 15ac02302_s1 genome 12 rs5800607,rs869215988,rs201427769
dbSNP Clinvar
104341187 1384.67 TGAA T PASS 0/1 68 CODON_DELETION MODERATE None 0.11981 0.11980 0.10586 None None None None None None HSP90B1|0.448274361|18.23%
View 15ac02302_s1 genome 12 . 104341188 114.27 G . PASS 0 38 CODON_DELETION MODERATE None 0.11981 0.11980 0.10586 None None None None None None HSP90B1|0.448274361|18.23%
View 15ac02302_s1 genome 12 . 104341189 117.26 A . PASS 0 38 CODON_DELETION MODERATE None 0.11981 0.11980 0.10586 None None None None None None HSP90B1|0.448274361|18.23%
View 15ac02302_s1 genome 12 . 104341190 108.25 A . PASS 0 37 CODON_DELETION MODERATE None 0.11981 0.11980 0.10586 None None None None None None HSP90B1|0.448274361|18.23%

HYDIN

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 15ac02302_s1 genome 16 . 70954706 81.15 G . PASS 0 21 CODON_DELETION MODERATE None None None None None None None HYDIN|0.080749251|55.02%
View 15ac02302_s1 genome 16 . 70954718 72.11 T . PASS 0 18 CODON_DELETION MODERATE None None None None None None None HYDIN|0.080749251|55.02%
View 15ac02302_s1 genome 16 . 70954717 75.13 G . PASS 0 19 CODON_DELETION MODERATE None None None None None None None HYDIN|0.080749251|55.02%
View 15ac02302_s1 genome 16 . 70954716 72.12 C . PASS 0 19 CODON_DELETION MODERATE None None None None None None None HYDIN|0.080749251|55.02%
View 15ac02302_s1 genome 16 . 70954715 78.13 C . PASS 0 20 CODON_DELETION MODERATE None None None None None None None HYDIN|0.080749251|55.02%
View 15ac02302_s1 genome 16 . 70954714 81.15 T . PASS 0 20 CODON_DELETION MODERATE None None None None None None None HYDIN|0.080749251|55.02%
View 15ac02302_s1 genome 16 . 70954713 75.14 C . PASS 0 20 CODON_DELETION MODERATE None None None None None None None HYDIN|0.080749251|55.02%
View 15ac02302_s1 genome 16 . 70954712 78.15 T . PASS 0 20 CODON_DELETION MODERATE None None None None None None None HYDIN|0.080749251|55.02%
View 15ac02302_s1 genome 16 . 70954711 81.15 T . PASS 0 20 CODON_DELETION MODERATE None None None None None None None HYDIN|0.080749251|55.02%
View 15ac02302_s1 genome 16 . 70954710 72.13 C . PASS 0 19 CODON_DELETION MODERATE None None None None None None None HYDIN|0.080749251|55.02%
View 15ac02302_s1 genome 16 . 70954709 78.15 C . PASS 0 19 CODON_DELETION MODERATE None None None None None None None HYDIN|0.080749251|55.02%
View 15ac02302_s1 genome 16 . 70954708 69.12 T . PASS 0 18 CODON_DELETION MODERATE None None None None None None None HYDIN|0.080749251|55.02%
View 15ac02302_s1 genome 16 . 70954707 72.13 C . PASS 0 18 CODON_DELETION MODERATE None None None None None None None HYDIN|0.080749251|55.02%
View 15ac02302_s1 genome 16 rs67115747,rs375727122
dbSNP Clinvar
70954703 1159.65 GG... G PASS 0/1 31 CODON_DELETION MODERATE None None None None None None None HYDIN|0.080749251|55.02%
View 15ac02302_s1 genome 16 . 70954704 90.16 G . PASS 0 22 CODON_DELETION MODERATE None None None None None None None HYDIN|0.080749251|55.02%
View 15ac02302_s1 genome 16 . 70954705 78.15 C . PASS 0 21 CODON_DELETION MODERATE None None None None None None None HYDIN|0.080749251|55.02%

KRT10

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 15ac02302_s1 genome 17 . 38975319 45.04 C . LowGQX 0 9 CODON_DELETION MODERATE None 0.48653 None None None None None None KRT10|0.085711046|54%
View 15ac02302_s1 genome 17 rs778613907
dbSNP Clinvar
38975307 770.37 TG... T PASS 0/1 16 CODON_DELETION MODERATE None 0.48653 None None None None None None KRT10|0.085711046|54%
View 15ac02302_s1 genome 17 . 38975308 51.06 G . LowGQX 0 10 CODON_DELETION MODERATE None 0.48653 None None None None None None KRT10|0.085711046|54%
View 15ac02302_s1 genome 17 . 38975309 48.05 C . LowGQX 0 10 CODON_DELETION MODERATE None 0.48653 None None None None None None KRT10|0.085711046|54%
View 15ac02302_s1 genome 17 . 38975310 48.04 C . LowGQX 0 10 CODON_DELETION MODERATE None 0.48653 None None None None None None KRT10|0.085711046|54%
View 15ac02302_s1 genome 17 . 38975311 48.05 G . LowGQX 0 10 CODON_DELETION MODERATE None 0.48653 None None None None None None KRT10|0.085711046|54%
View 15ac02302_s1 genome 17 . 38975312 48.05 C . LowGQX 0 10 CODON_DELETION MODERATE None 0.48653 None None None None None None KRT10|0.085711046|54%
View 15ac02302_s1 genome 17 . 38975313 48.05 C . LowGQX 0 10 CODON_DELETION MODERATE None 0.48653 None None None None None None KRT10|0.085711046|54%
View 15ac02302_s1 genome 17 . 38975314 48.05 G . LowGQX 0 10 CODON_DELETION MODERATE None 0.48653 None None None None None None KRT10|0.085711046|54%
View 15ac02302_s1 genome 17 . 38975315 45.03 T . LowGQX 0 10 CODON_DELETION MODERATE None 0.48653 None None None None None None KRT10|0.085711046|54%
View 15ac02302_s1 genome 17 . 38975316 48.05 G . LowGQX 0 10 CODON_DELETION MODERATE None 0.48653 None None None None None None KRT10|0.085711046|54%
View 15ac02302_s1 genome 17 . 38975317 51.06 G . LowGQX 0 10 CODON_DELETION MODERATE None 0.48653 None None None None None None KRT10|0.085711046|54%
View 15ac02302_s1 genome 17 . 38975318 48.05 C . LowGQX 0 9 CODON_DELETION MODERATE None 0.48653 None None None None None None KRT10|0.085711046|54%

MAML3

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 15ac02302_s1 genome 4 . 140811063 5681.62 TT... T,... PASS 1/2 55 CODON_DELETION MODERATE None None None None None None None MAML3|0.444017284|18.48%
View 15ac02302_s1 genome 4 . 140811076 0.0 T . LowGQX . 49 CODON_DELETION MODERATE None None None None None None None MAML3|0.444017284|18.48%
View 15ac02302_s1 genome 4 . 140811075 0.0 C . LowGQX . 12 CODON_DELETION MODERATE None None None None None None None MAML3|0.444017284|18.48%
View 15ac02302_s1 genome 4 . 140811074 0.0 G . LowGQX . 12 CODON_DELETION MODERATE None None None None None None None MAML3|0.444017284|18.48%
View 15ac02302_s1 genome 4 . 140811073 0.0 T . LowGQX . 12 CODON_DELETION MODERATE None None None None None None None MAML3|0.444017284|18.48%
View 15ac02302_s1 genome 4 . 140811072 0.0 C . LowGQX . 11 CODON_DELETION MODERATE None None None None None None None MAML3|0.444017284|18.48%
View 15ac02302_s1 genome 4 . 140811071 0.0 G . LowGQX . 11 CODON_DELETION MODERATE None None None None None None None MAML3|0.444017284|18.48%
View 15ac02302_s1 genome 4 . 140811070 0.0 T . LowGQX . 11 CODON_DELETION MODERATE None None None None None None None MAML3|0.444017284|18.48%
View 15ac02302_s1 genome 4 . 140811069 0.0 C . LowGQX . 11 CODON_DELETION MODERATE None None None None None None None MAML3|0.444017284|18.48%
View 15ac02302_s1 genome 4 . 140811067 0.0 T . LowGQX . 11 CODON_DELETION MODERATE None None None None None None None MAML3|0.444017284|18.48%
View 15ac02302_s1 genome 4 . 140811066 0.0 C . LowGQX . 11 CODON_DELETION MODERATE None None None None None None None MAML3|0.444017284|18.48%
View 15ac02302_s1 genome 4 . 140811065 0.0 G . LowGQX . 11 CODON_DELETION MODERATE None None None None None None None MAML3|0.444017284|18.48%
View 15ac02302_s1 genome 4 . 140811064 0.0 T . LowGQX . 11 CODON_DELETION MODERATE None None None None None None None MAML3|0.444017284|18.48%
View 15ac02302_s1 genome 4 . 140811068 0.0 G . LowGQX . 11 CODON_DELETION MODERATE None None None None None None None MAML3|0.444017284|18.48%

MAP3K1

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 15ac02302_s1 genome 5 . 56177849 350.5 C . PASS 0 147 CODON_DELETION MODERATE None None None None None None None MAP3K1|0.554683454|13.53%
View 15ac02302_s1 genome 5 . 56177851 364.02 A . PASS 0 144 CODON_DELETION MODERATE None None None None None None None MAP3K1|0.554683454|13.53%
View 15ac02302_s1 genome 5 rs5868032,rs869174877,rs869264361,rs10552703,rs398064829
dbSNP Clinvar
56177848 4182.08 TCAA T PASS 0/1 240 CODON_DELETION MODERATE None None None None None None None MAP3K1|0.554683454|13.53%
View 15ac02302_s1 genome 5 . 56177850 367.04 A . PASS 0 144 CODON_DELETION MODERATE None None None None None None None MAP3K1|0.554683454|13.53%

PIK3C2G

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 15ac02302_s1 genome 12 . 18435401 228.62 C . PASS 0 79 CODON_DELETION MODERATE None 0.30831 0.30830 0.34238 None None None None None None RERGL|0.064599802|58.71%,PIK3C2G|0.036855769|66.84%
View 15ac02302_s1 genome 12 . 18435400 228.63 C . PASS 0 78 CODON_DELETION MODERATE None 0.30831 0.30830 0.34238 None None None None None None RERGL|0.064599802|58.71%,PIK3C2G|0.036855769|66.84%
View 15ac02302_s1 genome 12 . 18435399 237.67 C . PASS 0 83 CODON_DELETION MODERATE None 0.30831 0.30830 0.34238 None None None None None None RERGL|0.064599802|58.71%,PIK3C2G|0.036855769|66.84%
View 15ac02302_s1 genome 12 rs35277916,rs796435817
dbSNP Clinvar
18435398 4279.8 GCCC G PASS 0/1 158 CODON_DELETION MODERATE None 0.30831 0.30830 0.34238 None None None None None None RERGL|0.064599802|58.71%,PIK3C2G|0.036855769|66.84%

SCN3A

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 15ac02302_s1 genome 2 . 166032777 216.61 T . PASS 0 89 CODON_DELETION MODERATE None 0.05132 0.05132 0.08482 None None None None None None SCN3A|0.861375519|4.45%
View 15ac02302_s1 genome 2 rs72471101
dbSNP Clinvar
166032775 3143.87 CATT C PASS 0/1 147 CODON_DELETION MODERATE None 0.05132 0.05132 0.08482 None None None None None None SCN3A|0.861375519|4.45%
View 15ac02302_s1 genome 2 . 166032776 207.57 A . PASS 0 88 CODON_DELETION MODERATE None 0.05132 0.05132 0.08482 None None None None None None SCN3A|0.861375519|4.45%
View 15ac02302_s1 genome 2 . 166032778 216.61 T . PASS 0 90 CODON_DELETION MODERATE None 0.05132 0.05132 0.08482 None None None None None None SCN3A|0.861375519|4.45%

THAP11

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 15ac02302_s1 genome 16 rs377516180
dbSNP Clinvar
67876823 1002.55 ACAG A PASS 0/1 61 CODON_DELETION MODERATE None None None None None None None CENPT|0.023116671|72.61%,THAP11|0.375340768|22.39%
View 15ac02302_s1 genome 16 . 67876824 111.25 C . PASS 0 37 CODON_DELETION MODERATE None None None None None None None CENPT|0.023116671|72.61%,THAP11|0.375340768|22.39%
View 15ac02302_s1 genome 16 . 67876825 96.21 A . PASS 0 36 CODON_DELETION MODERATE None None None None None None None CENPT|0.023116671|72.61%,THAP11|0.375340768|22.39%
View 15ac02302_s1 genome 16 . 67876826 102.21 G . PASS 0 35 CODON_DELETION MODERATE None None None None None None None CENPT|0.023116671|72.61%,THAP11|0.375340768|22.39%

TMIE

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 15ac02302_s1 genome 3 . 46751074 0.0 A . LowGQX . 0 CODON_DELETION MODERATE None 0.75320 None None None None None None TMIE|0.142194222|44.12%
View 15ac02302_s1 genome 3 rs10578999,rs397817178
dbSNP Clinvar
46751073 2333.85 TAAG T PASS 1/1 47 CODON_DELETION MODERATE None 0.75320 None None None None None None TMIE|0.142194222|44.12%
  • Page 1 of 1