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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

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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

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CADD

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MCAP

EXCLUDE VARIANTS WITHOUT M-CAP SCORE
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Genes at Omim

CCR5, DAG1, KNG1, LIPH, PROS1, SLC25A20, SUMF1,
CCR5 {Diabetes mellitus, insulin-dependent, 22}, 612522 (3)
{HIV infection, susceptibility/resistance to} (3)
{Hepatitis C virus, resistance to}, 609532 (3)
{West nile virus, susceptibility to}, 610379 (3)
DAG1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9, 616538 (3)
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818 (3)
KNG1 [High molecular weight kininogen deficiency], 228960 (3)
[Kininogen deficiency], 228960 (3)
LIPH Hypotrichosis 7, 604379 (3)
Woolly hair, autosomal recessive 2 with or without hypotrichosis, 604379 (3)
PROS1 Thrombophilia due to protein S deficiency, autosomal dominant, 612336 (3)
Thrombophilia due to protein S deficiency, autosomal recessive, 614514 (3)
SLC25A20 Carnitine-acylcarnitine translocase deficiency, 212138 (3)
SUMF1 Multiple sulfatase deficiency, 272200 (3)

Genes at Clinical Genomics Database

DAG1, KNG1, LIPH, PROS1, PTH1R, SLC25A20, SUMF1,
DAG1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9
Muscular dystrophy-dystroglycanopathy, type C, 9
KNG1 High molecular weight kininogen deficiency
LIPH Hypotrichosis 7
PROS1 Thrombophilia, hereditary, due to protein S deficiency
PTH1R Eiken syndrome
Chondrodysplasia, Blomstrand type
Metaphyseal chondrodysplasia, Murk Jansen type
Failure of tooth eruption, primary
SLC25A20 Carnitine-acylcarnitine translocase deficiency
SUMF1 Multiple sulfatase deficiency

Genes at HGMD

Summary

Number of Variants: 75
Number of Genes: 18

Export to: CSV
  • Page 1 of 1

ANKRD28

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 allllllllllllyblswd 3 rs759899806
dbSNP Clinvar
15756097 253.0 T C . 1|0 25 NON_SYNONYMOUS_CODING MODERATE None 0.02 0.04 3.46 0.01 0.29646 T None None None None ANKRD28|0.433008795|19.04%

ATP11B

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 allllllllllllyblswd 3 . 182575815 876.0 A G . 1|0 74 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.37 0.01 1.96 0.02 0.40503 T None None None None ATP11B|0.419706725|19.59%

ATP13A4

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 allllllllllllyblswd 3 rs139578706
dbSNP Clinvar
193166028 375.0 T C . 0/1 18 NON_SYNONYMOUS_CODING MODERATE None 0.00799 0.00799 0.00108 0.45 0.04 1.85 None None None None None None ATP13A4|0.189604914|37.86%

BOC

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 allllllllllllyblswd 3 rs201334578
dbSNP Clinvar
113002342 890.0 G A . 0/1 72 NON_SYNONYMOUS_CODING MODERATE None 0.00020 0.00020 0.60 0.21 2.59 0.02 0.38961 T None None None None BOC|0.066912228|58.17%
View allllllllllllyblswd 3 . 113005624 1031.0 C A . 0/1 85 NON_SYNONYMOUS_CODING MODERATE None 0.01 0.04 4.65 0.02 0.38428 T None None None None BOC|0.066912228|58.17%

CCR5

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 allllllllllllyblswd 3 rs142829420
dbSNP Clinvar
46414580 1391.0 A T . 0/1 100 NON_SYNONYMOUS_CODING MODERATE None 0.00020 0.00020 0.00069 0.01 0.25 1.55 0.02 0.45074 T None None None None CCR5|0.089540914|53.32%

CHL1

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 allllllllllllyblswd 3 rs200312405
dbSNP Clinvar
403395 198.0 G T . 1|0 16 NON_SYNONYMOUS_CODING MODERATE None 0.00040 0.00040 0.00008 0.06 0.95 3.32 0.02 0.45052 T None None None None None
View allllllllllllyblswd 3 rs200475792
dbSNP Clinvar
423879 362.0 G A . 0/1 34 NON_SYNONYMOUS_CODING MODERATE None 0.00008 0.54 0.06 2.47 0.01 0.26921 T None None None None None

DAG1

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 allllllllllllyblswd 3 rs145403829
dbSNP Clinvar
49548225 809.0 G C . 0/1 49 NON_SYNONYMOUS_CODING MODERATE None 0.00120 0.00120 0.00338 0.66 0.00 0.70 0.03 0.55902 D None None None None DAG1|0.703527545|8.39%

ITIH3

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 allllllllllllyblswd 3 rs200179055
dbSNP Clinvar
52842167 727.0 C T . 0/1 61 NON_SYNONYMOUS_CODING MODERATE None 0.00020 0.00020 0.00039 0.04 0.89 7.43 0.03 0.55135 D None None None None ITIH3|0.073451292|56.66%

KNG1

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 allllllllllllyblswd 3 . 186435350 190.0 C T . 1|0 13 NON_SYNONYMOUS_CODING MODERATE None 0.02 1.00 4.03 0.01 0.23665 T None None None None KNG1|0.112230793|48.83%

LIPH

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 allllllllllllyblswd 3 rs150976315
dbSNP Clinvar
185232284 449.0 T C . 0|1 27 NON_SYNONYMOUS_CODING MODERATE None 0.00020 0.00020 0.00015 0.14 0.04 0.79 0.03 0.55691 D None None None None LIPH|0.032446518|68.4%

MFI2

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 allllllllllllyblswd 3 rs147554015
dbSNP Clinvar
196735763 2235.0 T C . 0/1 157 SYNONYMOUS_CODING LOW None 0.00040 0.00040 0.00138 None None None None None None MFI2|0.035954949|67.15%

PLXNA1

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 allllllllllllyblswd 3 rs759113558
dbSNP Clinvar
126737186 690.0 C T . 1|0 45 NON_SYNONYMOUS_CODING MODERATE None 0.01 0.29 4.69 0.02 0.38457 T None None None None PLXNA1|0.069690054|57.55%

PROS1

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 allllllllllllyblswd 3 rs73846070
dbSNP Clinvar
93646101 347.0 G A . 0/1 38 NON_SYNONYMOUS_CODING MODERATE None 0.00319 0.00320 0.00231 0.06 1.00 4.89 None None None None None None PROS1|0.1571911|42.01%

PTH1R

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 allllllllllllyblswd 3 rs142921504
dbSNP Clinvar
46944109 1131.0 G A . 0/1 98 SYNONYMOUS_CODING LOW None 0.00100 0.00100 0.00131 None None None None None None PTH1R|0.52056294|14.99%

SLC25A20

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 allllllllllllyblswd 3 rs764658807
dbSNP Clinvar
48895980 385.0 C G . 0/1 45 NON_SYNONYMOUS_CODING MODERATE None 0.00 1.00 6.15 0.68 0.97311 D None None None None SLC25A20|0.380318367|22.02%

SUMF1

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 allllllllllllyblswd 3 rs373665011
dbSNP Clinvar
4458863 2354.0 G A . 1|1 74 SYNONYMOUS_CODING LOW None 0.00031 None None None None None None SUMF1|0.2711895|29.81%

TNK2

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 allllllllllllyblswd 3 rs114272733
dbSNP Clinvar
195594858 236.0 G A . 0/1 23 SYNONYMOUS_CODING LOW None 0.00619 0.00619 0.00167 None None None None None None TNK2|0.240036005|32.45%

XIRP1

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 allllllllllllyblswd 3 rs367987838
dbSNP Clinvar
39226171 3167.0 G A . 1|0 230 NON_SYNONYMOUS_CODING MODERATE None 0.01058 0.01058 0.13 0.00 1.40 None None None None None None XIRP1|0.011631361|79.49%
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 allllllllllllyblswd 3 . 65369354 532.0 C A . 0/1 36 None None None None None None None None None MAGI1|0.767705528|6.67%
View allllllllllllyblswd 3 . 65439050 17.0 G A . 0/1 19 None None None None None None None None None MAGI1|0.767705528|6.67%
View allllllllllllyblswd 3 . 69129364 37.0 A G . 0/1 12 None None None None None None None None None UBA3|0.933321708|2.7%
View allllllllllllyblswd 3 . 69129379 83.0 C G . 0|1 14 None None None None None None None None None UBA3|0.933321708|2.7%
View allllllllllllyblswd 3 . 73096589 63.0 T A . 0/1 14 None None None None None None None None None PPP4R2|0.153015597|42.53%
View allllllllllllyblswd 3 rs372283898
dbSNP Clinvar
78695291 329.0 T G . 0/1 25 None None None 0.00040 0.00040 0.00008 None None None None None None ROBO1|0.905688682|3.33%
View allllllllllllyblswd 3 rs373383394
dbSNP Clinvar
78717255 2419.0 A T . 0/1 174 None None None 0.00040 0.00040 0.00008 None None None None None None ROBO1|0.905688682|3.33%
View allllllllllllyblswd 3 rs28763905
dbSNP Clinvar
81810501 129.0 G C . 0/1 12 MOTIF[MA0162.1:Egr1] LOW None 0.00080 0.00659 None None None None None None GBE1|0.676333713|9.2%
View allllllllllllyblswd 3 rs184384923
dbSNP Clinvar
101010214 300.0 G A . 0/1 29 None None None 0.00679 0.00679 None None None None None None IMPG2|0.114303452|48.42%
View allllllllllllyblswd 3 rs996360216
dbSNP Clinvar
129324108 33.0 G C . 0/1 13 None None None None None None None None None PLXND1|0.109444338|49.29%
View allllllllllllyblswd 3 rs904257238
dbSNP Clinvar
129324118 44.0 G C . 0|1 15 None None None None None None None None None PLXND1|0.109444338|49.29%
View allllllllllllyblswd 3 rs10934949
dbSNP Clinvar
130289617 98.0 T C,A . 1/2 10 None None None 0.82268 0.82270 0.14615 None None None None None None COL6A6|0.028594557|70.13%
View allllllllllllyblswd 3 . 132363752 37.0 T A . 0/1 14 None None None None None None None None None ACAD11|0.064924098|58.66%,NPHP3|0.172447635|40.02%
View allllllllllllyblswd 3 rs369927859
dbSNP Clinvar
136183684 319.0 T C . 0/1 23 None None None 0.00040 0.00040 0.00023 None None None None None None STAG1|0.706227716|8.33%
View allllllllllllyblswd 3 rs13093790
dbSNP Clinvar
142215133 57.0 T C . 0/1 6 None None None None None None None None None ATR|0.696057424|8.61%
View allllllllllllyblswd 3 . 149374572 73.0 TCT ACA . 0/1 20 None None None None None None None None None WWTR1|0.656667266|9.85%
View allllllllllllyblswd 3 rs547275879
dbSNP Clinvar
155546239 453.0 C T . 0/1 26 None None None 0.00140 0.00140 None None None None None None SLC33A1|0.210463266|35.51%
View allllllllllllyblswd 3 rs759799492
dbSNP Clinvar
157822812 83.0 T C . 0/1 23 None None None None None None None None None SHOX2|0.762500898|6.78%
View allllllllllllyblswd 3 rs575208265
dbSNP Clinvar
157822818 512.0 G C . 1|1 25 None None None 0.62061 0.62060 None None None None None None SHOX2|0.762500898|6.78%
View allllllllllllyblswd 3 rs545514226
dbSNP Clinvar
157822821 256.0 G C . 1|1 24 None None None 0.62061 0.62060 None None None None None None SHOX2|0.762500898|6.78%
View allllllllllllyblswd 3 rs765167597
dbSNP Clinvar
157822834 457.0 G C . 1|0 29 None None None None None None None None None SHOX2|0.762500898|6.78%
View allllllllllllyblswd 3 rs762549768
dbSNP Clinvar
157822841 43.0 A C . 1|0 21 None None None None None None None None None SHOX2|0.762500898|6.78%
View allllllllllllyblswd 3 rs79006080
dbSNP Clinvar
159995299 47.0 A G . 0/1 10 None None None 0.00479 0.00479 0.00262 None None None None None None IFT80|0.494543754|16.11%
View allllllllllllyblswd 3 rs12490819
dbSNP Clinvar
164766808 150.0 T A . 0/1 19 None None None None None None None None None SI|0.05249821|61.91%
View allllllllllllyblswd 3 rs114414421
dbSNP Clinvar
168845853 976.0 G C . 0/1 59 None None None 0.00300 0.00300 0.00208 None None None None None None MECOM|0.999976502|0.11%
View allllllllllllyblswd 3 . 189712094 61.0 A C . 1|0 9 None None None None None None None None None P3H2|0.226348878|33.73%
View allllllllllllyblswd 3 . 195478020 402.0 C G . 0|1 32 None None None None None None None None None MUC4|0.005441696|85.29%
View allllllllllllyblswd 3 rs757484959
dbSNP Clinvar
15756068 154.0 A C . 0/1 11 None None None None None None None None None ANKRD28|0.433008795|19.04%
View allllllllllllyblswd 3 rs963487370
dbSNP Clinvar
195478021 554.0 T G . 0|1 32 None None None None None None None None None MUC4|0.005441696|85.29%
View allllllllllllyblswd 3 rs749505206
dbSNP Clinvar
195478027 522.0 T G . 0|1 30 None None None None None None None None None MUC4|0.005441696|85.29%
View allllllllllllyblswd 3 rs115717686
dbSNP Clinvar
195591121 443.0 C G . 0/1 28 None None None 0.00639 0.00639 0.00263 None None None None None None TNK2|0.240036005|32.45%
View allllllllllllyblswd 3 rs548604069
dbSNP Clinvar
195596351 1484.0 G A . 0/1 104 None None None 0.00040 0.00040 None None None None None None TNK2|0.240036005|32.45%
View allllllllllllyblswd 3 rs113996846
dbSNP Clinvar
195596509 738.0 C G . 0|1 45 None None None 0.00439 0.00439 None None None None None None TNK2|0.240036005|32.45%
View allllllllllllyblswd 3 rs116164316
dbSNP Clinvar
195605488 861.0 T C . 0/1 65 None None None 0.00439 0.00439 0.00285 None None None None None None TNK2|0.240036005|32.45%
View allllllllllllyblswd 3 . 195801941 20.0 G A . 0/1 34 None None None None None None None None None TFRC|0.701274957|8.47%
View allllllllllllyblswd 3 . 195478020 402.0 CT GG . 0|1 32 None None None None None None None None None MUC4|0.005441696|85.29%
View allllllllllllyblswd 3 . 10391907 205.0 C G . 0|1 21 None None None None None None None None None ATP2B2|0.393540983|21.16%
View allllllllllllyblswd 3 . 10391915 394.0 T G . 0|1 27 None None None None None None None None None ATP2B2|0.393540983|21.16%
View allllllllllllyblswd 3 . 13651169 92.0 CA GG . 0/1 14 None None None None None None None None None FBLN2|0.069003221|57.72%
View allllllllllllyblswd 3 . 13651169 92.0 C G . 0/1 14 None None None None None None None None None FBLN2|0.069003221|57.72%
View allllllllllllyblswd 3 . 52620759 101.0 TC AA . 1|1 8 None None None None None None None None None PBRM1|0.664761336|9.54%
View allllllllllllyblswd 3 . 73096589 63.0 TGA AAT . 0/1 14 None None None None None None None None None PPP4R2|0.153015597|42.53%
View allllllllllllyblswd 3 . 73096590 48.0 G A . 0|1 14 None None None None None None None None None PPP4R2|0.153015597|42.53%
View allllllllllllyblswd 3 rs45462001
dbSNP Clinvar
8932179 41.0 T A . 0/1 14 None None None 0.00539 0.00539 0.00092 None None None None None None RAD18|0.093804047|52.41%
View allllllllllllyblswd 3 rs59684491
dbSNP Clinvar
37067097 24.0 A T . 0/1 37 None None None None None None None None None MLH1|0.912358623|3.18%
View allllllllllllyblswd 3 rs368918357
dbSNP Clinvar
43759428 167.0 C T . 0/1 14 None None None 0.00140 0.00140 None None None None None None ABHD5|0.204529043|36.17%
View allllllllllllyblswd 3 . 73096591 66.0 A T . 0|1 14 None None None None None None None None None PPP4R2|0.153015597|42.53%
View allllllllllllyblswd 3 rs113251658
dbSNP Clinvar
47459380 59.0 C G . 0/1 16 None None None 0.27836 0.27840 None None None None None None SCAP|0.189534657|37.87%
View allllllllllllyblswd 3 rs370274399
dbSNP Clinvar
48665527 1269.0 A G . 0/1 60 None None None 0.00120 0.00120 0.00307 None None None None None None SLC26A6|0.037059078|66.76%
View allllllllllllyblswd 3 . 52518496 97.0 TG CC . 0|1 22 None None None None None None None None None NISCH|0.147521349|43.38%
View allllllllllllyblswd 3 rs772024951
dbSNP Clinvar
52518497 81.0 G C . 0|1 23 None None None None None None None None None NISCH|0.147521349|43.38%
View allllllllllllyblswd 3 . 52620754 63.0 G A . 1|1 6 None None None None None None None None None PBRM1|0.664761336|9.54%
View allllllllllllyblswd 3 rs535481979
dbSNP Clinvar
53752617 504.0 G C . 0|1 48 None None None 0.00020 0.00020 None None None None None None CACNA1D|0.678487804|9.14%
View allllllllllllyblswd 3 . 55508724 239.0 T G . 0|1 34 None None None None None None None None None WNT5A|0.966086032|1.83%
View allllllllllllyblswd 3 rs75878523
dbSNP Clinvar
63968158 651.0 A G . 0/1 37 None None None 0.00300 0.00300 0.00155 None None None None None None ATXN7|0.45901663|17.72%
  • Page 1 of 1