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GROUPS:

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OMIM:
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HGMD:
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CHR:

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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 at Omim

AMACR, GLIS3, NDUFS7, TRPM7,
AMACR Bile acid synthesis defect, congenital, 4, 214950 (3)
Alpha-methylacyl-CoA racemase deficiency, 614307 (3)
GLIS3 Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199 (3)
NDUFS7 Leigh syndrome, 256000 (3)
TRPM7 {Amyotrophic lateral sclerosis-parkinsonism/dementia complex, susceptibility to}, 105500 (3)

Genes at Clinical Genomics Database

AMACR, GLIS3, NDUFS7,
AMACR Alpha-methylacyl-CoA racemase deficiency
Bile acid synthesis defect, congenital, 4
GLIS3 Diabetes mellitus, neonatal, with congenital hypothyroidism
NDUFS7 Leigh syndrome
Mitochondrial complex I deficiency

Genes at HGMD

Summary

Number of Variants: 111
Number of Genes: 6

Export to: CSV

AMACR

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 23 recalibrated filtered postcgp gqfiltered 5 . 34007995 8025.79 C T PASS 0/1 114 SYNONYMOUS_CODING LOW 0.94 None None rs3195676 3 not_specified 0 None
View 23 recalibrated filtered postcgp gqfiltered 5 . 33998778 124359.02 A G PASS 1/1 76 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.66 -0.66 None None rs2287939 3 not_specified 0 None
View 23 recalibrated filtered postcgp gqfiltered 5 . 33989413 131600.74 C T PASS 1/1 79 SYNONYMOUS_CODING LOW SILENT 2.43 None None rs2278008 3 not_specified 0 None

GLIS3

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 23 recalibrated filtered postcgp gqfiltered 9 rs806052
dbSNP
4118208 11647.95 A G PASS 1/1 61 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.99900 0.99900 0.00129 0.49 0.00 -1.35 None None rs806052 3 not_specified 0 None
View 23 recalibrated filtered postcgp gqfiltered 9 rs6415788
dbSNP
4118111 19678.75 G T PASS 1/1 17 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.67612 0.67610 0.33073 0.91 0.00 -0.31 None None rs6415788 3 not_specified 0 None

NDUFS7

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 23 recalibrated filtered postcgp gqfiltered 19 . 1388539 16444.69 C T PASS 0/1 74 SYNONYMOUS_CODING LOW SILENT 0.15 None None rs1142530 3 not_specified 0 None

PSMD6

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 23 recalibrated filtered postcgp gqfiltered 3 . 63996406 64359.61 G A PASS 0/1 50 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.92 0.47 None None rs3774729 3 not_specified 0 None

TMEM204

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 23 recalibrated filtered postcgp gqfiltered 16 . 1584384 1800.35 C T PASS 0/1 114 NON_SYNONYMOUS_CODING MODERATE MISSENSE -1.31 None None rs34762152 3 not_specified 0 None

TRPM7

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 23 recalibrated filtered postcgp gqfiltered 15 . 50925164 44001.72 T C PASS 0/1 150 SYNONYMOUS_CODING LOW 0.39 None None rs2306331 3 not_specified 0 None
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 23 recalibrated filtered postcgp gqfiltered 19 . 40394958 120780.41 C T PASS 1/1 48 None None None 0.02 None None rs268674 3 not_specified 0 None
View 23 recalibrated filtered postcgp gqfiltered 19 . 13913456 1850.63 C T PASS 0/1 181 None None None 1.22 None None rs61740117 3 not_specified 0 None
View 23 recalibrated filtered postcgp gqfiltered 19 . 7542022 12609.28 G C PASS 0/1 85 None None None 2.59 None None rs17854645 3 not_specified 0 None
View 23 recalibrated filtered postcgp gqfiltered 18 . 55403683 11316.73 G A PASS 0/1 120 None None None 1.67 None None rs17522826 3 not_specified 0 None
View 23 recalibrated filtered postcgp gqfiltered 18 . 70204107 122320.62 A C PASS 0/1 27 None None None -0.69 None None rs3911730 3 not_specified 0 None
View 23 recalibrated filtered postcgp gqfiltered 18 . 70051452 169557.83 A G PASS 0/1 88 None None None -0.33 None None rs4891392 3 not_specified 0 None
View 23 recalibrated filtered postcgp gqfiltered 18 . 44876688 2011.39 G A PASS 1/1 59 None None None 0.01 None None rs663651 3 not_specified 0 None
View 23 recalibrated filtered postcgp gqfiltered 17 . 8231743 206314.94 T C PASS 1/1 89 None None None -2.91 None None rs3027238 3 not_specified 0 None
View 23 recalibrated filtered postcgp gqfiltered 17 . 8229445 166452.99 T C PASS 0/1 24 None None None -2.80 None None rs3826543 3 not_specified 0 None
View 23 recalibrated filtered postcgp gqfiltered 17 . 1733640 24338.84 A G PASS 0/1 75 None None None -2.65 None None rs3809870 3 not_specified 0 None
View 23 recalibrated filtered postcgp gqfiltered 17 . 1726914 1680.05 C T PASS 0/1 150 None None None 2.69 None None rs57207396 3 not_specified 0 None
View 23 recalibrated filtered postcgp gqfiltered 16 . 89553920 13787.3 G A PASS 0/1 86 None None None 3.91 None None rs12960 3 not_specified 0 None
View 23 recalibrated filtered postcgp gqfiltered 16 . 89546715 19915.27 A G PASS 0/1 113 None None None 1.64 None None rs2292954 3 not_specified 0 None
View 23 recalibrated filtered postcgp gqfiltered 16 . 88805737 91510.9 T C PASS 1/1 51 None None None -0.30 None None rs507329 3 not_specified 0 None
View 23 recalibrated filtered postcgp gqfiltered 16 . 67286320 40054.78 G A PASS 0/1 99 None None None 3.97 None None rs3868142 3 not_specified 0 None
View 23 recalibrated filtered postcgp gqfiltered 16 . 67284339 13187.27 A G PASS 0/1 64 None None None 0.29 None None rs8044843 3 not_specified 0 None
View 23 recalibrated filtered postcgp gqfiltered 16 . 67282331 27861.78 C T PASS 0/1 51 None None None 2.68 None None rs11860295 3 not_specified 0 None
View 23 recalibrated filtered postcgp gqfiltered 16 . 72023522 12655.36 C T PASS 0/1 31 None None None 7.38 None None rs61733129 3 not_specified 0 None
View 23 recalibrated filtered postcgp gqfiltered 16 . 72008783 3305.57 A C PASS 0/1 74 None None None 1.39 None None rs3213422 3 not_specified 0 None
View 23 recalibrated filtered postcgp gqfiltered 15 . 89669998 38356.75 G C PASS 1/1 30 None None None -1.53 None None rs6496589 3 not_specified 0 None
View 23 recalibrated filtered postcgp gqfiltered 15 . 42878595 100211.04 A G PASS 0/1 50 None None None 1.58 None None rs6493068 3 not_specified 0 None
View 23 recalibrated filtered postcgp gqfiltered 15 . 41397034 17806.02 C T PASS 0/1 56 None None None 0.80 None None rs1899 3 not_specified 0 None
View 23 recalibrated filtered postcgp gqfiltered 15 . 41396968 18741.94 C A PASS 0/1 39 None None None 1.22 None None rs3204853 3 not_specified 0 None
View 23 recalibrated filtered postcgp gqfiltered 14 . 92082441 47976.22 C T PASS 0/1 36 None None None 2.76 None None rs1048755 3 not_specified 0 None
View 23 recalibrated filtered postcgp gqfiltered 14 . 67786135 12502.39 A T PASS 0/1 88 None None None -1.19 None None rs112787369 3 not_specified 0 None
View 23 recalibrated filtered postcgp gqfiltered 14 . 67767822 213362.41 T C PASS 1/1 70 None None None -1.90 None None rs3742883 3 not_specified 0 None
View 23 recalibrated filtered postcgp gqfiltered 14 . 50735593 11361.34 G C PASS 0/1 35 None None None 3.31 None None rs2295847 3 not_specified 0 None
View 23 recalibrated filtered postcgp gqfiltered 14 . 50312098 8574.7 A C PASS 0/1 62 None None None -1.04 None None rs2275591 3 not_specified 1 None
View 23 recalibrated filtered postcgp gqfiltered 14 . 31787811 271.63 T C PASS 0/1 43 None None None 5.57 None None rs61752327 3 not_specified 1 None
View 23 recalibrated filtered postcgp gqfiltered 13 . 75310080 115633.43 C T PASS 0/1 149 None None None 0.96 None None rs1062087 3 not_specified 0 None
View 23 recalibrated filtered postcgp gqfiltered 13 . 75292148 9600.34 G A PASS 0/1 161 None None None 2.63 None None rs9600455 3 not_specified 0 None
View 23 recalibrated filtered postcgp gqfiltered 13 . 75286865 10683.28 A G PASS 0/1 70 None None None -0.42 None None rs557337 3 not_specified 0 None
View 23 recalibrated filtered postcgp gqfiltered 13 . 23355916 6145.57 A T PASS 0/1 132 None None None 3.25 None None rs2031640 3 not_specified 0 None
View 23 recalibrated filtered postcgp gqfiltered 12 . 132687300 539.87 C G PASS 0/1 44 None None None 1.19 None None rs202220778 3 not_specified 1 None
View 23 recalibrated filtered postcgp gqfiltered 12 . 109576074 13055.29 G A PASS 0/1 134 None None None -1.52 None None rs7957619 3 not_specified 0 None
View 23 recalibrated filtered postcgp gqfiltered 12 . 111599196 2100.97 G C PASS 1/1 78 None None None 0.98 None None rs695871 3 not_specified 0 None
View 23 recalibrated filtered postcgp gqfiltered 11 . 126473332 439.06 T C PASS 0/1 43 None None None 0.89 None None rs111418068 3 not_specified 0 None
View 23 recalibrated filtered postcgp gqfiltered 11 . 73978059 27558.77 G A PASS 1/1 70 None None None 0.91 None None rs660339 3 not_specified 0 None
View 23 recalibrated filtered postcgp gqfiltered 11 . 17396930 48070.74 C A PASS 0/1 50 None None None 0.93 None None rs757110 3 not_specified 0 None
View 23 recalibrated filtered postcgp gqfiltered 10 . 97744873 18127.03 G T PASS 1/1 76 None None None -0.62 None None rs10882993 3 not_specified 0 None
View 23 recalibrated filtered postcgp gqfiltered 10 . 71362156 385046.76 A G PASS 1/1 101 None None None -2.32 None None rs2487068 3 not_specified 0 None
View 23 recalibrated filtered postcgp gqfiltered 10 . 71356185 162629.31 G A PASS 1/1 77 None None None -0.81 None None rs2252996 3 not_specified 0 None
View 23 recalibrated filtered postcgp gqfiltered 10 . 71351651 75219.47 C T PASS 0/1 122 None None None 6.30 None None rs780668 3 not_specified 0 None
View 23 recalibrated filtered postcgp gqfiltered 10 . 71322806 70296.65 A G PASS 0/1 81 None None None 0.25 None None rs2277257 3 not_specified 0 None
View 23 recalibrated filtered postcgp gqfiltered 10 . 60072226 11685.28 G T PASS 0/1 43 None None None 1.54 None None rs11599164 3 not_specified 0 None
View 23 recalibrated filtered postcgp gqfiltered 10 . 60071532 34919.28 T C PASS 0/1 44 None None None 0.32 None None rs28932171 3 not_specified 0 None
View 23 recalibrated filtered postcgp gqfiltered 10 . 60071513 73634.86 T C PASS 0/1 41 None None None 0.92 None None rs10821668 3 not_specified 0 None
View 23 recalibrated filtered postcgp gqfiltered 9 . 137087175 13164.02 A G PASS 1/1 129 None None None -1.01 None None rs968733 3 not_specified 0 None
View 23 recalibrated filtered postcgp gqfiltered 9 . 131087543 45049.22 C T PASS 0/1 71 None None None 4.48 None None rs7024108 3 not_specified 0 None
View 23 recalibrated filtered postcgp gqfiltered 9 . 131072662 26606.38 A G PASS 0/1 76 None None None -0.18 None None rs2275140 3 not_specified 0 None
View 23 recalibrated filtered postcgp gqfiltered 9 . 131061184 43560.64 C G PASS 1/1 74 None None None 1.17 None None rs3739510 3 not_specified 0 None
View 23 recalibrated filtered postcgp gqfiltered 9 . 131052491 122973.64 A G PASS 1/1 76 None None None 2.44 None None rs10901333 3 not_specified 0 None
View 23 recalibrated filtered postcgp gqfiltered 9 . 131049064 2925.54 C T PASS 1/1 50 None None None 0.29 None None rs869457 3 not_specified 0 None
View 23 recalibrated filtered postcgp gqfiltered 9 . 110800863 10163.26 G T PASS 0/1 114 None None None -1.02 None None rs578430 3 not_specified 0 None
View 23 recalibrated filtered postcgp gqfiltered 8 . 93795937 187554.69 A G PASS 0/1 36 None None None -0.09 None None rs3134031 3 not_specified 0 None
View 23 recalibrated filtered postcgp gqfiltered 8 . 73981615 29994.0 C G PASS 0/1 18 None None None -1.74 None None rs1053077 3 not_specified 0 None
View 23 recalibrated filtered postcgp gqfiltered 8 . 73981586 34898.0 A G PASS 0/1 25 None None None -3.33 None None rs1053079 3 not_specified 0 None
View 23 recalibrated filtered postcgp gqfiltered 8 . 73976381 3523.36 G C PASS 0/1 84 None None None 2.23 None None rs8075 3 not_specified 0 None
View 23 recalibrated filtered postcgp gqfiltered 8 . 31141764 57195.67 G T PASS 0/1 50 None None None -0.69 None None rs1801195 3 not_specified 0 None
View 23 recalibrated filtered postcgp gqfiltered 8 . 38238144 37087.67 C T PASS 0/1 65 None None None 2.45 None None rs2306899 3 not_specified 0 None
View 23 recalibrated filtered postcgp gqfiltered 7 . 92022988 898.63 G C PASS 0/1 128 None None None -0.98 None None rs144372406 3 Cardiac_arrhythmia 1 None
View 23 recalibrated filtered postcgp gqfiltered 6 . 152344126 90017.18 C A PASS 0/1 44 None None None 0.24 None None rs4645434 3 not_specified 0 None
View 23 recalibrated filtered postcgp gqfiltered 6 . 152337007 72280.97 T C PASS 1/1 30 None None None 0.37 None None rs9479297 3 not_specified 0 None
View 23 recalibrated filtered postcgp gqfiltered 6 . 152337006 5255.4 C A PASS 0/1 30 None None None 2.99 None None rs28385621 3 not_specified 0 None
View 23 recalibrated filtered postcgp gqfiltered 6 . 152330899 342061.41 A T PASS 1/1 74 None None None -5.48 None None rs6911096 3 not_specified 0 None
View 23 recalibrated filtered postcgp gqfiltered 6 . 152326546 87076.41 A T PASS 1/1 57 None None None 1.98 None None rs2306916 3 not_specified 0 None
View 23 recalibrated filtered postcgp gqfiltered 6 . 152219143 190755.9 A C PASS 1/1 54 None None None -0.22 None None rs2147377 3 not_specified 0 None
View 23 recalibrated filtered postcgp gqfiltered 6 . 146434188 106289.11 T C PASS 0/1 86 None None None 0.80 None None rs6923492 3 not_specified 0 None
View 23 recalibrated filtered postcgp gqfiltered 6 . 29673552 582.63 G A PASS 0/1 57 None None None 4.24 None None rs61730330 3 not_specified 0 None
View 23 recalibrated filtered postcgp gqfiltered 6 . 24503362 37138.73 C T PASS 0/1 74 None None None 0.51 None None rs2760118 3 not_specified 0 None
View 23 recalibrated filtered postcgp gqfiltered 5 . 34004602 59160.17 C T PASS 0/1 64 None None None 6.79 None None rs10941112 3 not_specified 0 None
View 23 recalibrated filtered postcgp gqfiltered 5 . 33998663 18291.88 C A PASS 0/1 47 None None None 3.68 None None rs34677 3 not_specified 0 None
View 23 recalibrated filtered postcgp gqfiltered 5 . 1213553 8681.04 G A PASS 1/1 49 None None None 1.11 None None rs7732589 3 not_specified 0 None
View 23 recalibrated filtered postcgp gqfiltered 4 . 118298754 17664.3 C A PASS 0/1 81 None None None 1.86 None None rs28661939 3 not_specified 0 None
View 23 recalibrated filtered postcgp gqfiltered 4 . 56008351 22537.69 A C PASS 0/1 53 None None None -2.63 None None rs3214045 3 not_specified 0 None
View 23 recalibrated filtered postcgp gqfiltered 3 . 171014511 95906.19 G A PASS 1/1 74 None None None 1.52 None None rs5400 3 not_specified 0 None
View 23 recalibrated filtered postcgp gqfiltered 3 . 63982224 13205.28 A G PASS 0/1 91 None None None 1.61 None None rs1053338 3 not_specified 0 None
View 23 recalibrated filtered postcgp gqfiltered 3 . 43561311 123280.11 C T PASS 1/1 44 None None None 1.71 None None rs3772165 3 not_specified 0 None
View 23 recalibrated filtered postcgp gqfiltered 2 . 240007349 24144.57 T C PASS 1/1 33 None None None -0.78 None None rs13848 3 not_specified 0 None
View 23 recalibrated filtered postcgp gqfiltered 2 . 169318824 47587.24 T C PASS 0/1 74 None None None -2.27 None None rs2229263 3 not_specified 0 None
View 23 recalibrated filtered postcgp gqfiltered 2 . 169174129 2060.4 C T PASS 0/1 65 None None None 3.33 None None rs144081819 3 not_specified 0 None
View 23 recalibrated filtered postcgp gqfiltered 2 . 169154475 164204.84 T C PASS 1/1 55 None None None 2.04 None None rs2075252 3 not_specified 0 None
View 23 recalibrated filtered postcgp gqfiltered 2 . 169146922 55262.74 T G PASS 1/1 87 None None None 6.60 None None rs4667591 3 not_specified 0 None
View 23 recalibrated filtered postcgp gqfiltered 2 . 151640012 87875.61 A G PASS 0/1 38 None None None 2.01 None None rs6713162 3 not_specified 0 None
View 23 recalibrated filtered postcgp gqfiltered 2 . 147958859 23242.6 T C PASS 0/1 46 None None None 1.48 None None rs2307394 3 not_specified 0 None
View 23 recalibrated filtered postcgp gqfiltered 2 . 88613755 61796.2 G C PASS 0/1 62 None None None 2.32 None None rs867529 3 not_specified 0 None
View 23 recalibrated filtered postcgp gqfiltered 2 . 88575373 238484.93 C A PASS 0/1 52 None None None 1.96 None None rs1805165 3 not_specified 0 None
View 23 recalibrated filtered postcgp gqfiltered 2 . 21041028 16437.19 G A PASS 0/1 46 None None None 3.44 None None rs1367117 3 not_specified 0 None
View 23 recalibrated filtered postcgp gqfiltered 2 . 21028042 118329.38 G A PASS 0/1 221 None None None 5.62 None None rs679899 3 not_specified 0 None
View 23 recalibrated filtered postcgp gqfiltered 2 . 21008652 85219.88 G A PASS 0/1 54 None None None 5.79 None None rs676210 3 not_specified 0 None
View 23 recalibrated filtered postcgp gqfiltered 2 . 21002409 136914.43 C T PASS 0/1 106 None None None -1.28 None None rs1042034 3 not_specified 0 None