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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

ADRA2B, AKAP9, ALMS1, HADHB, PCLO,
ADRA2B Epilepsy, myoclonic, familial adult, 2, 607876 (3)
AKAP9 ?Long QT syndrome-11, 611820 (3)
ALMS1 Alstrom syndrome, 203800 (3)
HADHB Trifunctional protein deficiency, 609015 (3)
PCLO ?Pontocerebellar hypoplasia, type 3, 608027 (3)

Genes at Clinical Genomics Database

AKAP9, ALMS1, HADHB,
AKAP9 Long QT syndrome 11
ALMS1 Alstrom syndrome
HADHB Trifunctional protein deficiency

Genes at HGMD

Summary

Number of Variants: 40
Number of Genes: 39

Export to: CSV
  • Page 1 of 1

ADRA2B

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 fam3 AWK 2 rs34667759,rs28365031,rs29000568
dbSNP Clinvar
96780986 283.9 C CT... PASS 0/1 101 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.24860 0.47060 0.29666 None None None None None None ADRA2B|0.088340463|53.59%

AKAP9

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 fam3 AWK 7 rs10644111,rs397825978
dbSNP Clinvar
91652178 137.43 A AAAC PASS 0/1 33 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.42472 0.42470 0.47907 None None None None None None AKAP9|0.267262044|30.07%

ALMS1

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 fam3 AWK 2 rs587621330,rs34628045
dbSNP Clinvar
73675227 394.23 T TCTC PASS 0/1 39 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.60044 0.60040 0.44921 None None None None None None ALMS1|0.012791041|78.65%

BCL6B

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 fam3 AWK 17 rs146207245,rs72254884
dbSNP Clinvar
6928019 903.82 C CCAG PASS 1/1 135 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.66234 0.66230 None None None None None None BCL6B|0.213572706|35.16%

C18orf25

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 fam3 AWK 18 rs34068795,rs397790301
dbSNP Clinvar
43833701 2152.41 T TCTG PASS 1/1 188 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.69269 0.69270 None None None None None None C18orf25|0.503978181|15.65%

C21orf58

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 fam3 AWK 21 rs71318063,rs759135936,rs112899928,rs35902237
dbSNP Clinvar
47721985 47.56 A ATGG PASS 0/1 57 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.27596 0.27600 None None None None None None C21orf58|0.001829013|91.47%

CELSR2

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 fam3 AWK 1 rs144034706,rs59201433
dbSNP Clinvar
109792735 148.74 A ACGC PASS 1/1 18 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.56829 0.56830 0.37763 None None None None None None CELSR2|0.181244223|38.88%

DLX6

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 fam3 AWK 7 rs559903070,rs758248695
dbSNP Clinvar
96635420 44.72 A AGCC PASS 0/1 20 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.10623 0.10620 None None None None None None DLX6|0.879390184|3.97%

EME1

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 fam3 AWK 17 rs558756129,rs36080231,rs3060668
dbSNP Clinvar
48452978 106.89 A AAGC PASS 0/1 93 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.44589 0.44590 0.45662 None None None None None None EME1|0.046021007|63.91%,LRRC59|0.084985608|54.21%

EPHB6

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 fam3 AWK 7 rs143667567
dbSNP Clinvar
142562051 103.26 C CC... PASS 0/1 55 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.12640 0.07808 None None None None None None EPHB6|0.088181957|53.61%

FAM171B

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 fam3 AWK 2 rs549897920
dbSNP Clinvar
187559029 92.58 A ACAG PASS 0/1 85 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.17272 0.18950 None None None None None None FAM171B|0.143209943|43.96%
View fam3 AWK 2 rs144403657,rs71017336
dbSNP Clinvar
187559047 309.61 G GCAA PASS 0/1 89 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.51957 0.51960 None None None None None None FAM171B|0.143209943|43.96%

FAM90A1

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 fam3 AWK 12 rs71265055
dbSNP Clinvar
8374781 395.22 C CACG PASS 0/1 150 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.43271 0.43270 0.47518 None None None None None None FAM90A1|0.000638586|97.62%

FOXF2

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 fam3 AWK 6 rs147426137,rs397731476,rs111257067,rs58230522
dbSNP Clinvar
1391085 98.16 G GGGC PASS 0/1 18 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.39277 0.39280 0.37182 None None None None None None FOXF2|0.273083947|29.64%

HADHB

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 fam3 AWK 2 rs3839049,rs59947000
dbSNP Clinvar
26477125 419.88 G GACT PASS 1/1 47 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.70947 0.70950 0.08686 None None None None None None HADHB|0.207953227|35.81%

HAVCR1

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 fam3 AWK 5 rs139041445,rs10068551,rs77147640
dbSNP Clinvar
156479568 1323.23 C CG... PASS 1/2 149 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.01398 0.33050 None None None None None None HAVCR1|0.00064813|97.55%

IFI27

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 fam3 AWK 14 rs3833507
dbSNP Clinvar
94582130 356.79 T TG... PASS 0/1 165 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.65775 0.65770 0.34781 None None None None None None IFI27|0.001693986|91.92%

KCNN2

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 fam3 AWK 5 rs151038013
dbSNP Clinvar
113698631 175.03 T TGCC PASS 0/1 150 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.35385 None None None None None None KCNN2|0.504056199|15.63%

KIAA1211

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 fam3 AWK 4 rs138358443
dbSNP Clinvar
57180576 47.85 C CG... PASS 0/1 92 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.26957 0.26960 0.30504 None None None None None None KIAA1211|0.006705951|83.84%

LCE4A

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 fam3 AWK 1 rs6143428
dbSNP Clinvar
152681680 197.62 C CA... PASS 0/1 62 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.00080 0.80050 None None None None None None LCE4A|0.003799402|87.31%

LSR

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 fam3 AWK 19 rs142507475,rs397751431
dbSNP Clinvar
35758275 2330.3 G GGGA PASS 1/1 315 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.32073 None None None None None None LSR|0.042036693|65.11%

LTF

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 fam3 AWK 3 rs10662431,rs55665884
dbSNP Clinvar
46501284 1540.18 C CCTT PASS 1/1 172 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.99042 0.99040 0.02045 None None None None None None LTF|0.008447646|82.21%

MAGEF1

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 fam3 AWK 3 rs34995413,rs112819846,rs397720350
dbSNP Clinvar
184429133 355.77 A ATCC PASS 0/1 353 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None MAGEF1|0.006287467|84.31%

NOP9

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 fam3 AWK 14 rs113258190
dbSNP Clinvar
24769849 43.02 A AGAG PASS 0/1 16 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None NOP9|0.084378166|54.34%

OR7C2

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 fam3 AWK 19 rs3044711,rs397816267
dbSNP Clinvar
15052983 863.42 T TATC PASS 0/1 97 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.99381 0.99380 0.01166 None None None None None None OR7C2|0.001466113|92.96%

OXA1L

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 fam3 AWK 14 rs148216086,rs57267429,rs36078271,rs397761468
dbSNP Clinvar
23240713 144.96 T TAGC PASS 0/1 43 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.21106 0.21110 0.25276 None None None None None None OXA1L|0.120087489|47.42%

PALM2-AKAP2

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 fam3 AWK 9 rs150402481,rs373159646
dbSNP Clinvar
112900341 498.54 G GG... PASS 0/1 216 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.00220 0.13100 0.13549 None None None None None None PALM2-AKAP2|0.163410266|41.09%,AKAP2|0.121220388|47.25%

PCGF6

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 fam3 AWK 10 rs113359610,rs60968810
dbSNP Clinvar
105110740 343.17 A AG... PASS 0/1 53 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.44649 0.44650 0.31420 None None None None None None PCGF6|0.176496571|39.45%

PCLO

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 fam3 AWK 7 rs10630259
dbSNP Clinvar
82581488 462.47 T TTCA PASS 1/1 120 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.99401 0.99400 0.01408 None None None None None None PCLO|0.112401256|48.79%

PHF2

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 fam3 AWK 9 rs149736720,rs75653373
dbSNP Clinvar
96439004 159.7 C A,... PASS 1/2 24 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.47304 0.47300 0.33252 None None None None None None PHF2|0.081704166|54.82%

POU4F2

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 fam3 AWK 4 rs530695040,rs772231658,rs5862765
dbSNP Clinvar
147560457 141.37 T TGGC PASS 0/1 26 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None POU4F2|0.829800839|5.08%

PPM1E

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 fam3 AWK 17 rs201186780
dbSNP Clinvar
56833457 54.33 G GG... PASS 0/1 49 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.38898 0.38900 None None None None None None PPM1E|0.33176433|25.36%

REC8

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 fam3 AWK 14 rs10690822
dbSNP Clinvar
24646406 915.25 G GGAA PASS 1/1 308 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.01692 None None None None None None REC8|0.030069397|69.37%

SCARF1

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 fam3 AWK 17 rs142617742
dbSNP Clinvar
1548956 507.64 G GAGC PASS 0/1 91 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.03974 0.03974 0.03586 None None None None None None SCARF1|0.035426211|67.34%

SH3BGR

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 fam3 AWK 21 rs3831201,rs111921581,rs397694871
dbSNP Clinvar
40883671 418.5 G GAGA PASS 0/1 181 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.44871 None None None None None None SH3BGR|0.025744385|71.44%

SYNGR1

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 fam3 AWK 22 rs149306472
dbSNP Clinvar
39777822 116.74 C CCAA PASS 0/1 62 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.86082 0.86080 0.25917 None None None None None None SYNGR1|0.100294024|51.11%

TMEM37

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 fam3 AWK 2 rs3217464
dbSNP Clinvar
120194651 2002.29 A AG... PASS 1/1 210 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.89637 0.89640 0.11529 None None None None None None TMEM37|0.024253839|72.11%

UQCRC1

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 fam3 AWK 3 rs564332864
dbSNP Clinvar
48646685 123.59 C CT... PASS 0/1 104 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.00060 0.00060 None None None None None None UQCRC1|0.210072251|35.57%

ZBTB33

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 fam3 AWK X rs201958171,rs781901311,rs59686094
dbSNP Clinvar
119387833 1123.48 C CTGA PASS 1/1 82 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.51444 0.51440 None None None None None None ZBTB33|0.393506803|21.17%

ZNF880

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 fam3 AWK 19 rs34678014,rs398071206
dbSNP Clinvar
52887246 44.46 T TCAA PASS 0/1 19 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.34413 None None None None None None ZNF880|0.002180877|90.48%
  • Page 1 of 1