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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
OPEN RESULT IN A NEW WINDOW
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Genes at Omim

ABCC6, ADAMTS18, ZNF469,
ABCC6 Arterial calcification, generalized, of infancy, 2, 614473 (3)
Pseudoxanthoma elasticum, 264800 (3)
Pseudoxanthoma elasticum, forme fruste, 177850 (3)
ADAMTS18 Microcornea, myopic chorioretinal atrophy, and telecanthus, 615458 (3)
ZNF469 Brittle cornea syndrome 1, 229200 (3)

Genes at Clinical Genomics Database

ABCC6, ADAMTS18, ZNF469,
ABCC6 Pseudoxanthoma elasticum
ADAMTS18 Knobloch syndrome 2
Microcornea, myopic chorioretinal atrophy, and telecanthus
Retinal dystrophy, early onset, autosomal recessive
ZNF469 Brittle cornea syndrome 1

Genes at HGMD

Summary

Number of Variants: 49
Number of Genes: 3

Export to: CSV
  • Page 1 of 1

ABCC6

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 12107_s6 16 rs9930886
dbSNP Clinvar
16291983 100.0 A G PASS 0/1 67 SYNONYMOUS_CODING LOW None 0.28275 0.28270 0.31330 None None None None None None ABCC6|0.022547171|72.9%
View 12107_s6 16 rs6416668
dbSNP Clinvar
16271357 100.0 T C PASS 1/1 33 NON_SYNONYMOUS_CODING MODERATE None 0.96426 0.96430 0.03556 0.29 0.00 None None None None None None ABCC6|0.022547171|72.9%
View 12107_s6 16 rs7500834
dbSNP Clinvar
16272670 100.0 T C PASS 1/1 97 SYNONYMOUS_CODING LOW None 0.96446 0.96450 0.03548 None None None None None None ABCC6|0.022547171|72.9%

ADAMTS18

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 12107_s6 16 rs35478105
dbSNP Clinvar
77325325 100.0 G T PASS 0/1 127 NON_SYNONYMOUS_CODING MODERATE None 0.22784 0.22780 0.36819 0.03 0.13 None None None None None None ADAMTS18|0.112557021|48.75%
View 12107_s6 16 rs8059275
dbSNP Clinvar
77389956 100.0 A G PASS 1/1 44 SYNONYMOUS_CODING LOW None 0.88219 0.88220 0.12527 None None None None None None ADAMTS18|0.112557021|48.75%
View 12107_s6 16 rs11640912
dbSNP Clinvar
77359919 100.0 A T PASS 1/1 84 NON_SYNONYMOUS_CODING MODERATE None 0.43950 0.43950 0.31887 0.00 0.01 None None None None None None ADAMTS18|0.112557021|48.75%
View 12107_s6 16 rs9930984
dbSNP Clinvar
77353973 100.0 G T PASS 1/1 118 NON_SYNONYMOUS_CODING MODERATE None 0.63498 0.63500 0.48561 0.12 0.00 None None None None None None ADAMTS18|0.112557021|48.75%
View 12107_s6 16 rs12935394
dbSNP Clinvar
77328990 100.0 C A PASS 0/1 106 NON_SYNONYMOUS_CODING MODERATE None 0.11402 0.11400 0.09388 0.92 0.00 None None None None None None ADAMTS18|0.112557021|48.75%
View 12107_s6 16 rs12935229
dbSNP Clinvar
77328895 100.0 C T PASS 0/1 24 SYNONYMOUS_CODING LOW None 0.11462 0.11460 0.09380 None None None None None None ADAMTS18|0.112557021|48.75%
View 12107_s6 16 rs35296483
dbSNP Clinvar
77327018 100.0 G A PASS 0/1 47 SYNONYMOUS_CODING LOW None 0.12420 0.12420 0.09449 None None None None None None ADAMTS18|0.112557021|48.75%
View 12107_s6 16 rs3743749
dbSNP Clinvar
77323235 100.0 C G PASS 0/1 102 NON_SYNONYMOUS_CODING MODERATE None 0.18191 0.18190 0.16467 0.01 0.12 None None None None None None ADAMTS18|0.112557021|48.75%

ZNF469

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 12107_s6 16 rs9924504
dbSNP Clinvar
88497031 100.0 T C PASS 1/1 13 SYNONYMOUS_CODING LOW None 1.00000 1.00000 None None None None None None ZNF469|0.000923153|95.92%
View 12107_s6 16 rs12918876
dbSNP Clinvar
88496008 100.0 T C PASS 0/1 25 SYNONYMOUS_CODING LOW None 0.60443 0.60440 None None None None None None ZNF469|0.000923153|95.92%
View 12107_s6 16 rs12927001
dbSNP Clinvar
88495654 100.0 A G PASS 1/1 11 SYNONYMOUS_CODING LOW None 0.87480 0.87480 None None None None None None ZNF469|0.000923153|95.92%
View 12107_s6 16 rs1983014
dbSNP Clinvar
88502505 100.0 A G PASS 1/1 78 NON_SYNONYMOUS_CODING MODERATE None 0.99621 0.99620 0.00483 0.00 None None None None None None ZNF469|0.000923153|95.92%
View 12107_s6 16 rs1105066
dbSNP Clinvar
88504850 100.0 G C PASS 0/1 57 NON_SYNONYMOUS_CODING MODERATE None 0.39097 0.39100 0.45093 0.12 None None None None None None ZNF469|0.000923153|95.92%
View 12107_s6 16 rs7199961
dbSNP Clinvar
88495407 100.0 G C PASS 1/1 34 NON_SYNONYMOUS_CODING MODERATE None 0.99161 0.99160 0.00 None None None None None None ZNF469|0.000923153|95.92%
View 12107_s6 16 rs28723506
dbSNP Clinvar
88495367 100.0 G A PASS 0/1 34 NON_SYNONYMOUS_CODING MODERATE None 0.08067 0.08067 0.00 None None None None None None ZNF469|0.000923153|95.92%
View 12107_s6 16 rs4782362
dbSNP Clinvar
88505734 100.0 C T PASS 1/1 28 SYNONYMOUS_CODING LOW None 0.98722 0.98720 0.01205 None None None None None None ZNF469|0.000923153|95.92%
View 12107_s6 16 rs4782301
dbSNP Clinvar
88505635 100.0 A G PASS 1/1 17 SYNONYMOUS_CODING LOW None 0.79633 0.79630 0.22434 None None None None None None ZNF469|0.000923153|95.92%
View 12107_s6 16 rs904783
dbSNP Clinvar
88504868 100.0 A G PASS 1/1 56 NON_SYNONYMOUS_CODING MODERATE None 0.99920 0.99920 0.00022 0.00 None None None None None None ZNF469|0.000923153|95.92%
View 12107_s6 16 rs3812953
dbSNP Clinvar
88502482 100.0 C T PASS 0/1 80 SYNONYMOUS_CODING LOW None 0.47005 0.47000 None None None None None None ZNF469|0.000923153|95.92%
View 12107_s6 16 rs3812956
dbSNP Clinvar
88501971 100.0 T A PASS 0/1 29 NON_SYNONYMOUS_CODING MODERATE None 0.29433 0.29430 0.33830 0.00 None None None None None None ZNF469|0.000923153|95.92%
View 12107_s6 16 rs9931465
dbSNP Clinvar
88499539 100.0 C G PASS 1/1 80 SYNONYMOUS_CODING LOW None 0.77955 0.77960 0.18034 None None None None None None ZNF469|0.000923153|95.92%
View 12107_s6 16 rs12445417
dbSNP Clinvar
88498297 100.0 T G PASS 1/1 36 SYNONYMOUS_CODING LOW None 0.84645 0.84640 0.16032 None None None None None None ZNF469|0.000923153|95.92%
View 12107_s6 16 rs4782300
dbSNP Clinvar
88498221 100.0 C T PASS 1/1 69 NON_SYNONYMOUS_CODING MODERATE None 0.84425 0.84420 0.12275 0.00 None None None None None None ZNF469|0.000923153|95.92%
View 12107_s6 16 rs7197071
dbSNP Clinvar
88497446 100.0 A G PASS 1/1 76 NON_SYNONYMOUS_CODING MODERATE None 0.81889 0.81890 0.18601 0.01 None None None None None None ZNF469|0.000923153|95.92%
View 12107_s6 16 rs9938800
dbSNP Clinvar
88497400 100.0 G A PASS 1/1 56 SYNONYMOUS_CODING LOW None 0.90256 0.90260 None None None None None None ZNF469|0.000923153|95.92%
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 12107_s6 16 rs2066738
dbSNP Clinvar
16248681 100.0 G A PASS 0/1 22 None None None 0.17612 0.17610 0.13734 None None None None None None ABCC6|0.022547171|72.9%
View 12107_s6 16 rs2650907
dbSNP Clinvar
77393207 100.0 G C PASS 1/1 34 None None None 0.46246 0.46250 0.43660 None None None None None None ADAMTS18|0.112557021|48.75%
View 12107_s6 16 rs764667708,rs11410820
dbSNP Clinvar
77359575 100.0 G GA PASS 0/1 19 None None None None None None None None None ADAMTS18|0.112557021|48.75%
View 12107_s6 16 rs16945464
dbSNP Clinvar
77326724 100.0 C T PASS 0/1 24 None None None 0.28315 0.28310 None None None None None None ADAMTS18|0.112557021|48.75%
View 12107_s6 16 rs68045879
dbSNP Clinvar
77323093 100.0 A G PASS 0/1 28 None None None 0.18151 0.18150 None None None None None None ADAMTS18|0.112557021|48.75%
View 12107_s6 16 rs2239319
dbSNP Clinvar
16308351 100.0 G A PASS 1/1 28 None None None 0.10344 0.10340 0.01029 None None None None None None ABCC6|0.022547171|72.9%
View 12107_s6 16 rs9940089
dbSNP Clinvar
16291871 100.0 G C PASS 1/1 36 None None None 0.78794 0.78790 0.26189 None None None None None None ABCC6|0.022547171|72.9%
View 12107_s6 16 rs12929920
dbSNP Clinvar
16291858 100.0 G C PASS 1/1 36 None None None 0.73143 0.73140 0.32628 None None None None None None ABCC6|0.022547171|72.9%
View 12107_s6 16 rs6498618
dbSNP Clinvar
16286614 100.0 G C PASS 0/1 69 None None None 0.69768 0.69770 None None None None None None ABCC6|0.022547171|72.9%
View 12107_s6 16 rs76470239
dbSNP Clinvar
16286586 100.0 C T PASS 0/1 69 None None None 0.23223 0.23220 None None None None None None ABCC6|0.022547171|72.9%
View 12107_s6 16 rs7206048
dbSNP Clinvar
16286519 100.0 G C PASS 0/1 69 None None None 0.28814 0.28810 None None None None None None ABCC6|0.022547171|72.9%
View 12107_s6 16 rs7193932
dbSNP Clinvar
16284272 100.0 C T PASS 1/1 50 None None None 0.94748 0.94750 0.05649 None None None None None None ABCC6|0.022547171|72.9%
View 12107_s6 16 rs2239322
dbSNP Clinvar
16284265 100.0 T C PASS 1/1 50 None None None 0.32089 0.32090 0.22218 None None None None None None ABCC6|0.022547171|72.9%
View 12107_s6 16 rs55707615
dbSNP Clinvar
16283973 100.0 G A PASS 1/1 21 None None None 0.31969 0.31970 0.22152 None None None None None None ABCC6|0.022547171|72.9%
View 12107_s6 16 rs8056103
dbSNP Clinvar
16280921 100.0 T C PASS 1/1 32 None None None 0.00240 0.00240 None None None None None None ABCC6|0.022547171|72.9%
View 12107_s6 16 rs41278182
dbSNP Clinvar
16278948 100.0 C T PASS 1/1 32 None None None 0.30132 0.30130 0.20324 None None None None None None ABCC6|0.022547171|72.9%
View 12107_s6 16 rs11866320
dbSNP Clinvar
16267079 100.0 A G PASS 1/1 28 None None None 0.97564 0.97560 None None None None None None ABCC6|0.022547171|72.9%
View 12107_s6 16 rs3213473
dbSNP Clinvar
16256767 100.0 T G PASS 1/1 64 None None None 0.00499 0.00499 None None None None None None ABCC6|0.022547171|72.9%
View 12107_s6 16 rs3213470
dbSNP Clinvar
16255240 100.0 G A PASS 1/1 19 None None None 0.28594 0.28590 None None None None None None ABCC6|0.022547171|72.9%
View 12107_s6 16 rs56822940,rs398078529,rs398028845
dbSNP Clinvar
16253283 100.0 GC G PASS 1/1 44 None None None None None None None None None ABCC6|0.022547171|72.9%
View 12107_s6 16 rs45504291
dbSNP Clinvar
88505748 100.0 G A PASS 0/1 28 None None None 0.22145 0.22140 None None None None None None ZNF469|0.000923153|95.92%
  • Page 1 of 1