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EXCLUDE ALL VARIANTS PRESENT IN LATEST DBSNP BUILD
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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

SIFT SCORE

EXCLUDE VARIANTS WITHOUT SIFT SCORE
POLYPHEN2 SCORE

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CADD

EXCLUDE VARIANTS WITHOUT CADD SCORE
MCAP

EXCLUDE VARIANTS WITHOUT M-CAP SCORE
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Genes at Omim

ACOX1, GEMIN4, HOXB1, ITGA3, KIF1C, KLHL10, NOG, RNF213, TLK2, TRIM37, XYLT2,
ACOX1 Peroxisomal acyl-CoA oxidase deficiency, 264470 (3)
GEMIN4 Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities, 617913 (3)
HOXB1 Facial paresis, hereditary congenital, 3, 614744 (3)
ITGA3 Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, 614748 (3)
KIF1C Spastic ataxia 2, autosomal recessive, 611302 (3)
KLHL10 Spermatogenic failure 11, 615081 (3)
NOG Brachydactyly, type B2, 611377 (3)
Multiple synostoses syndrome 1, 186500 (3)
Stapes ankylosis with broad thumbs and toes, 184460 (3)
Symphalangism, proximal, 1A, 185800 (3)
Tarsal-carpal coalition syndrome, 186570 (3)
RNF213 {Moyamoya disease 2, susceptibility to}, 607151 (3)
TLK2 Mental retardation, autosomal dominant 57, 618050 (3)
TRIM37 Mulibrey nanism, 253250 (3)
XYLT2 {Pseudoxanthoma elasticum, modifier of severity of}, 264800 (3)
Spondyloocular syndrome, 605822 (3)

Genes at Clinical Genomics Database

ACOX1, HOXB1, ITGA3, KIF1C, KLHL10, NOG, RNF213, TRIM37,
ACOX1 Peroxisomal acyl-CoA oxidase deficiency
HOXB1 Facial paresis, hereditary congenital, 3
ITGA3 Interstitial lung disease with nephrotic syndrome and epidermolysis bullosa
KIF1C Spastic ataxia 2, autosomal recessive
KLHL10 Spermatogenic failure 11
NOG Brachydactyly, type B2
Tarsal-carpal coalition syndrome
Multiple synostosis syndrome 1
Symphalangism, proximal
Stapes ankylosis with broad thumb and toes (Teunissen-Cremers syndrome)
RNF213 Moyamoya disease 2
TRIM37 Mulibrey nanism

Genes at HGMD

Summary

Number of Variants: 288
Number of Genes: 54

Export to: CSV

AATF

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 ex_013_mod 17 rs140132823
dbSNP Clinvar
35310234 5121.5 G A PASS 0/1 35 NON_SYNONYMOUS_CODING MODERATE None 0.00020 0.00020 0.00085 0.55 0.00 None None None None None None AATF|0.980408321|1.45%

ABCA10

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 ex_013_mod 17 rs141937290
dbSNP Clinvar
67152981 2165.85 T C PASS 0/1 19 SYNONYMOUS_CODING LOW None 0.00120 0.00120 0.00154 None None None None None None ABCA10|0.002179826|90.49%

ABCA9

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 ex_013_mod 17 rs376418483
dbSNP Clinvar
67016544 2616.29 T C PASS 0/1 84 NON_SYNONYMOUS_CODING MODERATE None 0.00008 0.09 0.16 None None None None None None ABCA9|0.017284198|75.69%

ABCC3

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 ex_013_mod 17 rs34502058
dbSNP Clinvar
48753045 15428.19 G A PASS 0/1 38 NON_SYNONYMOUS_CODING MODERATE None 0.00200 0.00200 0.00424 0.37 0.48 None None None None None None ABCC3|0.044769991|64.26%

ACOX1

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 ex_013_mod 17 rs79677613
dbSNP Clinvar
73949555 62299.39 C T PASS 0/1 169 SYNONYMOUS_CODING LOW None 0.00599 0.00599 0.00923 None None None None None None ACOX1|0.181440529|38.86%

ALOX12

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 ex_013_mod 17 rs114985038
dbSNP Clinvar
6901890 5460.29 G C PASS 0/1 73 NON_SYNONYMOUS_CODING MODERATE None 0.00579 0.00579 0.00446 0.02 0.72 None None None None None None ALOX12|0.072773622|56.83%

ATP2A3

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 ex_013_mod 17 rs144535413
dbSNP Clinvar
3844344 21428.71 C T PASS 0/1 57 NON_SYNONYMOUS_CODING MODERATE None 0.00160 0.00160 0.00339 0.32 0.59 None None None None None None ATP2A3|0.0615045|59.44%

AZI1

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 ex_013_mod 17 rs145189405
dbSNP Clinvar
79172739 3175.19 G A PASS 0/1 27 NON_SYNONYMOUS_CODING MODERATE None 0.00200 0.00200 0.00217 0.12 0.00 None None None None None None CEP131|0.010879041|80.18%

C17orf70

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 ex_013_mod 17 rs111682181
dbSNP Clinvar
79517566 5026.29 G A PASS 0/1 86 SYNONYMOUS_CODING LOW None 0.00579 0.00579 0.00623 None None None None None None C17orf70|0.008276506|82.38%
View ex_013_mod 17 rs113231059
dbSNP Clinvar
79518127 3659.29 G A PASS 0/1 93 SYNONYMOUS_CODING LOW None 0.00579 0.00579 0.00625 None None None None None None C17orf70|0.008276506|82.38%
View ex_013_mod 17 rs189173983
dbSNP Clinvar
79519275 1415.52 C G PASS 0/1 60 NON_SYNONYMOUS_CODING MODERATE None 0.00559 0.00559 0.00350 0.01 1.00 None None None None None None C17orf70|0.008276506|82.38%

CCDC182

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 ex_013_mod 17 rs199973441
dbSNP Clinvar
55822444 7094.52 C G PASS 0/1 63 NON_SYNONYMOUS_CODING MODERATE None 0.00 1.00 None None None None None None None

CCDC57

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 ex_013_mod 17 . 80159430 531.51 G C PASS 0/1 30 NON_SYNONYMOUS_CODING MODERATE None 0.00 1.00 None None None None None None CCDC57|0.000772577|96.85%

CLUH

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 ex_013_mod 17 rs202053376
dbSNP Clinvar
2593972 12901.56 G A PASS 0/1 31 SYNONYMOUS_CODING LOW None 0.00200 0.00200 0.00726 None None None None None None CLUH|0.266743031|30.14%

CNTROB

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 ex_013_mod 17 rs151174639
dbSNP Clinvar
7852724 12666.97 C T PASS 0/1 80 NON_SYNONYMOUS_CODING MODERATE None 0.00459 0.00459 0.00261 0.00 1.00 None None None None None None CNTROB|0.086163509|53.91%

DBF4B

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 ex_013_mod 17 . 42825811 1467.51 A T PASS 0/1 100 NON_SYNONYMOUS_CODING MODERATE None 0.02 0.02 None None None None None None DBF4B|0.013466036|78.23%

DVL2

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 ex_013_mod 17 rs148687874
dbSNP Clinvar
7132758 2840.52 G C PASS 0/1 95 SYNONYMOUS_CODING LOW None 0.00160 0.00160 0.00146 None None None None None None DVL2|0.380173803|22.04%

FADS6

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 ex_013_mod 17 rs148361272
dbSNP Clinvar
72875510 36957.63 G A PASS 0/1 39 None None None 0.00479 0.00479 0.00815 None None None None None None FADS6|0.029483585|69.62%

FAM187A

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 ex_013_mod 17 rs779309918
dbSNP Clinvar
42981763 997.51 G A PASS 0/1 78 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.98 None None None None None None CCDC103|0.035653539|67.25%,FAM187A|0.067468693|58.02%

GEMIN4

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 ex_013_mod 17 rs138673289
dbSNP Clinvar
651144 18600.52 C T PASS 0/1 75 NON_SYNONYMOUS_CODING MODERATE None 0.00200 0.00200 0.00390 0.07 0.12 None None None None None None GEMIN4|0.221612099|34.23%

HGS

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 ex_013_mod 17 rs138665031
dbSNP Clinvar
79667612 53960.39 T A PASS 0/1 55 SYNONYMOUS_CODING LOW None 0.00659 0.00659 0.00892 None None None None None None HGS|0.175136436|39.63%

HOXB1

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 ex_013_mod 17 rs145345040
dbSNP Clinvar
46608021 48753.63 C T PASS 0/1 92 SYNONYMOUS_CODING LOW None 0.00359 0.00359 0.00708 None None None None None None HOXB1|0.48868105|16.37%

HSD17B1

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 ex_013_mod 17 rs146195480
dbSNP Clinvar
40706551 25151.94 G A PASS 0/1 66 NON_SYNONYMOUS_CODING MODERATE None 0.00120 0.00120 0.00185 0.31 0.00 None None None None None None HSD17B1|0.020622705|73.88%

IGF2BP1

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 ex_013_mod 17 . 47121386 400.51 A G PASS 0/1 33 NON_SYNONYMOUS_CODING MODERATE None 0.05 0.12 None None None None None None IGF2BP1|0.801461044|5.79%

ITGA3

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 ex_013_mod 17 rs61730081
dbSNP Clinvar
48151849 39006.6 G A PASS 0/1 99 NON_SYNONYMOUS_CODING MODERATE None 0.00200 0.00200 0.00185 0.14 0.80 None None None None None None ITGA3|0.328975626|25.55%

KIF1C

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 ex_013_mod 17 rs148934699
dbSNP Clinvar
4925475 9922.11 C T PASS 0/1 43 NON_SYNONYMOUS_CODING MODERATE None 0.00160 0.00160 0.00315 0.00 1.00 None None None None None None KIF1C|0.137181714|44.84%

KLHL10

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 ex_013_mod 17 rs61752339
dbSNP Clinvar
40001580 63015.07 T C PASS 0/1 148 NON_SYNONYMOUS_CODING MODERATE None 0.00140 0.00140 0.00580 0.00 0.19 None None None None None None KLHL10|0.36979515|22.71%

KRTAP1-5

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 ex_013_mod 17 . 39183255 276.5 T G PASS 0/1 63 SYNONYMOUS_CODING LOW None None None None None None None KRTAP1-5|0.023419758|72.45%
View ex_013_mod 17 rs756063130
dbSNP Clinvar
39183231 12109.95 A G PASS 0/1 49 SYNONYMOUS_CODING LOW None None None None None None None KRTAP1-5|0.023419758|72.45%

KRTAP4-3

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 ex_013_mod 17 rs143200002
dbSNP Clinvar
39324123 6742.15 C T PASS 0/1 18 NON_SYNONYMOUS_CODING MODERATE None 0.00699 0.00699 0.00714 0.04 0.08 None None None None None None KRTAP4-3|0.001216731|94.35%

LRRC37B

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 ex_013_mod 17 rs142826230
dbSNP Clinvar
30349693 1505.32 G C PASS 0/1 73 NON_SYNONYMOUS_CODING MODERATE None 0.00220 0.00220 0.00339 0.42 0.00 None None None None None None LRRC37B|0.00165758|92.07%

LUC7L3

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 ex_013_mod 17 rs35882911
dbSNP Clinvar
48818502 32249.07 G A PASS 0/1 77 SYNONYMOUS_CODING LOW None 0.00319 0.00320 0.00830 None None None None None None LUC7L3|0.836373858|4.93%

MINK1

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 ex_013_mod 17 rs1037333676
dbSNP Clinvar
4789895 593.52 G A PASS 0/1 44 NON_SYNONYMOUS_CODING MODERATE None 0.02 0.77 None None None None None None MINK1|0.312766522|26.63%

MYO18A

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 ex_013_mod 17 rs377454229
dbSNP Clinvar
27419449 764.52 G A PASS 0/1 77 NON_SYNONYMOUS_CODING MODERATE None 0.00015 0.07 0.98 None None None None None None MYO18A|0.508450233|15.46%

NEURL4

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 ex_013_mod 17 . 7224720 1161.51 T C PASS 0/1 129 NON_SYNONYMOUS_CODING MODERATE None 0.01 0.09 None None None None None None NEURL4|0.15446924|42.36%

NFE2L1

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 ex_013_mod 17 . 46133754 411.51 G T PASS 0/1 31 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.94 None None None None None None NFE2L1|0.372718275|22.55%

NOG

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 ex_013_mod 17 rs747237879
dbSNP Clinvar
54671655 1103.51 C A PASS 0/1 94 NON_SYNONYMOUS_CODING MODERATE None 0.64 0.00 None None None None None None NOG|0.994685254|0.85%

NPB

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 ex_013_mod 17 rs558554720
dbSNP Clinvar
79860438 3385.7 C A PASS 0/1 17 SYNONYMOUS_CODING LOW None 0.00020 0.00020 None None None None None None NPB|0.001966424|91.08%,PCYT2|0.058928096|60.18%

OR1A1

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 ex_013_mod 17 rs117976322
dbSNP Clinvar
3119609 3561.52 G A PASS 0/1 138 NON_SYNONYMOUS_CODING MODERATE None 0.00080 0.00080 0.00146 0.00 0.09 None None None None None None OR1A1|0.025113143|71.73%

RNASEK

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 ex_013_mod 17 rs191867158
dbSNP Clinvar
6916821 1586.55 C T PASS 0/1 101 None None None 0.00160 0.00160 0.10 0.33 None None None None None None RNASEK|0.057333942|60.59%,RNASEK-C17orf49|0.371919774|22.61%

RNF213

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 ex_013_mod 17 rs144098631
dbSNP Clinvar
78319965 41099.15 C T PASS 0/1 68 SYNONYMOUS_CODING LOW None 0.00479 0.00479 0.00261 None None None None None None RNF213|0.001313454|93.8%

RPL19

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 ex_013_mod 17 rs749662459
dbSNP Clinvar
37359319 6399.29 C T PASS 0/1 146 SYNONYMOUS_CODING LOW None None None None None None None RPL19|0.647990116|10.18%

SDF2

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 ex_013_mod 17 rs775680467
dbSNP Clinvar
26982422 923.51 G A PASS 0/1 74 SYNONYMOUS_CODING LOW None None None None None None None SDF2|0.423032003|19.44%

SDK2

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 ex_013_mod 17 rs117687984
dbSNP Clinvar
71468356 43574.07 A G PASS 0/1 97 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.00339 0.00340 0.00876 0.09 0.73 None None None None None None SDK2|0.207253642|35.88%

SLFN13

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 ex_013_mod 17 rs140062622
dbSNP Clinvar
33767692 49808.32 T C PASS 0/1 131 SYNONYMOUS_CODING LOW None 0.00100 0.00100 0.00377 None None None None None None SLFN13|0.00106256|95.09%

SLFN5

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 ex_013_mod 17 rs141928271
dbSNP Clinvar
33586111 64387.03 G A PASS 0/1 162 SYNONYMOUS_CODING LOW None 0.00240 0.00240 0.00584 None None None None None None SLFN5|0.001194702|94.44%

SMCR8

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 ex_013_mod 17 rs117521287
dbSNP Clinvar
18219607 24738.11 G A PASS 0/1 95 SYNONYMOUS_CODING LOW None 0.00060 0.00060 0.00208 None None None None None None SMCR8|0.159811919|41.58%
View ex_013_mod 17 rs79875842
dbSNP Clinvar
18220268 93223.53 A G PASS 0/1 90 NON_SYNONYMOUS_CODING MODERATE None 0.00339 0.00340 0.01038 0.53 0.00 None None None None None None SMCR8|0.159811919|41.58%

SRCIN1

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 ex_013_mod 17 rs200521253
dbSNP Clinvar
36708145 4181.26 C T PASS 0/1 112 NON_SYNONYMOUS_CODING MODERATE None 0.00100 0.00100 0.00049 0.10 0.00 None None None None None None SRCIN1|0.190057253|37.81%

SREBF1

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 ex_013_mod 17 rs200944690
dbSNP Clinvar
17717013 3416.99 G A PASS 0/1 15 NON_SYNONYMOUS_CODING MODERATE None 0.10 0.12 None None None None None None SREBF1|0.208630723|35.75%

STRA13

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 ex_013_mod 17 rs75826554
dbSNP Clinvar
79977215 20754.88 G A PASS 0/1 35 NON_SYNONYMOUS_CODING MODERATE None 0.00200 0.00200 0.00426 1.00 0.00 None None None None None None STRA13|0.012401979|78.97%

TBC1D16

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 ex_013_mod 17 rs150604803
dbSNP Clinvar
77926526 10604.75 C T PASS 0/1 37 NON_SYNONYMOUS_CODING MODERATE None 0.00120 0.00120 0.00523 0.13 0.24 None None None None None None TBC1D16|0.068326777|57.86%

TLK2

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 ex_013_mod 17 rs765006741
dbSNP Clinvar
60599596 1194.51 A G PASS 0/1 97 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.00 None None None None None None TLK2|0.587006511|12.26%

TMEM95

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 ex_013_mod 17 rs79041177
dbSNP Clinvar
7259205 8303.1 G C PASS 0/1 86 NON_SYNONYMOUS_CODING MODERATE None 0.00120 0.00120 0.00261 0.05 0.42 None None None None None None TMEM95|0.024525723|72.02%

TRIM37

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 ex_013_mod 17 rs143642427
dbSNP Clinvar
57094676 629.51 G C PASS 0/1 73 NON_SYNONYMOUS_CODING MODERATE None 0.00020 0.00020 0.00031 0.15 0.00 None None None None None None TRIM37|0.928220593|2.79%

UTP18

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 ex_013_mod 17 rs201970296
dbSNP Clinvar
49374357 6204.08 T C PASS 0/1 20 None None None 0.00040 0.00040 0.00110 0.01 0.00 None None None None None None UTP18|0.292102848|28.21%

XAF1

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 ex_013_mod 17 rs61731569
dbSNP Clinvar
6663729 870.32 A G PASS 0/1 17 NON_SYNONYMOUS_CODING MODERATE None 0.00539 0.00539 0.00669 0.04 0.02 None None None None None None XAF1|0.002684279|89.28%

XYLT2

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 ex_013_mod 17 rs149423854
dbSNP Clinvar
48434513 1092.52 C T PASS 0/1 62 NON_SYNONYMOUS_CODING MODERATE None 0.00080 0.00080 0.00092 0.14 0.05 None None None None None None XYLT2|0.099224608|51.33%
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 ex_013_mod 17 rs879191911
dbSNP Clinvar
16624049 4269.76 T C PASS 0/1 54 None None None None None None None None None CCDC144A|0.002171352|90.51%
View ex_013_mod 17 rs200509915
dbSNP Clinvar
16667127 35290.77 T C PASS 1/1 26 None None None None None None None None None CCDC144A|0.002171352|90.51%
View ex_013_mod 17 rs70965415
dbSNP Clinvar
17411978 36739.52 T C PASS 0/1 30 None None None 0.00679 0.00679 None None None None None None PEMT|0.024572101|72%
View ex_013_mod 17 . 17696186 238.95 T C PASS 0/1 3 None None None None None None None None None RAI1|0.119478135|47.54%
View ex_013_mod 17 rs62076327
dbSNP Clinvar
18393938 11889.81 C T PASS 0/1 13 None None None None None None None None None LGALS9C|0.002141508|90.62%
View ex_013_mod 17 rs76854117
dbSNP Clinvar
18001848 5953.89 C T PASS 0/1 17 None None None 0.00599 0.00599 None None None None None None DRG2|0.457854603|17.79%
View ex_013_mod 17 rs184421726
dbSNP Clinvar
18030693 888.46 G C PASS 0/1 15 None None None 0.00080 0.00080 None None None None None None MYO15A|0.178183039|39.27%
View ex_013_mod 17 rs182372223
dbSNP Clinvar
18286025 8022.5 G T PASS 0/1 33 None None None 0.00060 0.00060 None None None None None None EVPLL|0.002239233|90.3%
View ex_013_mod 17 rs62076328
dbSNP Clinvar
18393969 16344.58 C T PASS 0/1 13 None None None None None None None None None LGALS9C|0.002141508|90.62%
View ex_013_mod 17 rs185449321
dbSNP Clinvar
18286026 8022.48 A T PASS 0/1 33 None None None 0.00060 0.00060 None None None None None None EVPLL|0.002239233|90.3%
View ex_013_mod 17 rs62076315
dbSNP Clinvar
18353552 1476.07 A G PASS 0/1 19 None None None None None None None None None None
View ex_013_mod 17 rs182947055
dbSNP Clinvar
18353562 3161.07 G T PASS 0/1 19 None None None 0.00399 0.00399 None None None None None None None
View ex_013_mod 17 rs181551224
dbSNP Clinvar
18353714 103172.35 T G PASS 0/1 38 None None None None None None None None None None
View ex_013_mod 17 rs373649308
dbSNP Clinvar
18387000 2172.87 T C PASS 0/1 6 None None None None None None None None None LGALS9C|0.002141508|90.62%
View ex_013_mod 17 rs1825463
dbSNP Clinvar
18391144 11762.9 C T PASS 0/1 6 None None None None None None None None None LGALS9C|0.002141508|90.62%
View ex_013_mod 17 rs9709039
dbSNP Clinvar
18395647 198869.89 G T PASS 0/1 84 None None None None None None None None None LGALS9C|0.002141508|90.62%
View ex_013_mod 17 rs202058088
dbSNP Clinvar
18483322 5219.62 G C PASS 0/1 31 None None None None None None None None None None
View ex_013_mod 17 rs2649501
dbSNP Clinvar
18542432 74561.34 T C PASS 0/1 18 None None None None None None None None None TBC1D28|0.001733211|91.72%
View ex_013_mod 17 rs55636053
dbSNP Clinvar
18565143 421238.42 T C PASS 0/1 45 None None None None None None None None None TBC1D28|0.001733211|91.72%,ZNF286B|0.006542921|84.01%
View ex_013_mod 17 rs56950705
dbSNP Clinvar
20354633 16391.68 A C PASS 0/1 3 None None None None None None None None None LGALS9B|0.002599696|89.48%
View ex_013_mod 17 rs55872124
dbSNP Clinvar
20354642 18219.6 A G PASS 1/1 2 None None None None None None None None None LGALS9B|0.002599696|89.48%
View ex_013_mod 17 rs200986076
dbSNP Clinvar
20356536 38880.89 A G PASS 0/1 29 None None None None None None None None None LGALS9B|0.002599696|89.48%
View ex_013_mod 17 rs202049390
dbSNP Clinvar
20361768 18162.82 G A PASS 0/1 10 None None None None None None None None None LGALS9B|0.002599696|89.48%
View ex_013_mod 17 rs201278698
dbSNP Clinvar
20363552 7342.44 C A PASS 0/1 42 None None None None None None None None None LGALS9B|0.002599696|89.48%
View ex_013_mod 17 rs183736808
dbSNP Clinvar
20397258 26605.79 C T PASS 0/1 129 None None None None None None None None None None
View ex_013_mod 17 rs2694344
dbSNP Clinvar
20397312 48353.41 A C PASS 0/1 84 None None None None None None None None None None
View ex_013_mod 17 rs2694346
dbSNP Clinvar
20397474 27407.64 C T PASS 0/1 19 None None None None None None None None None None
View ex_013_mod 17 rs616433
dbSNP Clinvar
20492807 39144.42 C G PASS 0/1 30 None None None None None None None None None None
View ex_013_mod 17 rs113834250
dbSNP Clinvar
20492893 108870.51 C T PASS 0/1 63 None None None None None None None None None None
View ex_013_mod 17 rs3744225
dbSNP Clinvar
21087963 139204.34 T G PASS 0/1 12 None None None 0.39115 None None None None None None DHRS7B|0.02774509|70.54%
View ex_013_mod 17 rs2363219
dbSNP Clinvar
21199236 83686.68 C T PASS 0/1 20 None None None None None None None None None MAP2K3|0.4379498|18.79%
View ex_013_mod 17 rs72831543
dbSNP Clinvar
21202400 16864.0 C T PASS 0/1 20 None None None None None None None None None MAP2K3|0.4379498|18.79%
View ex_013_mod 17 rs56917442
dbSNP Clinvar
21318432 200692.65 T C PASS 0/1 19 None None None None None None None None None KCNJ12|0.437556296|18.82%
View ex_013_mod 17 rs59800389
dbSNP Clinvar
21318466 345161.55 G A PASS 0/1 24 None None None None None None None None None KCNJ12|0.437556296|18.82%
View ex_013_mod 17 rs5021702
dbSNP Clinvar
21320025 5330414.93 C T PASS 0/1 78 None None None None None None None None None KCNJ12|0.437556296|18.82%
View ex_013_mod 17 rs5021703
dbSNP Clinvar
21320102 3555031.25 C A PASS 0/1 66 None None None None None None None None None KCNJ12|0.437556296|18.82%
View ex_013_mod 17 rs5021704
dbSNP Clinvar
21320114 3244249.65 T G PASS 0/1 64 None None None None None None None None None KCNJ12|0.437556296|18.82%
View ex_013_mod 17 rs5021706
dbSNP Clinvar
21320263 147499.95 T C PASS 0/1 14 None None None None None None None None None KCNJ12|0.437556296|18.82%
View ex_013_mod 17 rs77802327
dbSNP Clinvar
26633351 3661.88 T G PASS 0/1 13 None None None 0.00359 0.00359 None None None None None None None
View ex_013_mod 17 . 36362124 444170.37 G A PASS 0/1 27 None None None None None None None None None None
View ex_013_mod 17 rs141808020
dbSNP Clinvar
26916364 8406.34 G A PASS 0/1 5 None None None 0.00639 0.00639 None None None None None None SPAG5|0.175563342|39.56%
View ex_013_mod 17 rs200959334
dbSNP Clinvar
27417792 567.51 G A PASS 0/1 53 None None None 0.00020 0.00020 None None None None None None MYO18A|0.508450233|15.46%,TIAF1|0.017985292|75.3%