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EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES
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EXCLUDE ALL VARIANTS PRESENT IN DBSNP
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EXCLUDE VARIANTS WITHOUT SIFT SCORE
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Genes at Omim

ALAD, CASP12, DNAH11, FUT2, HLA-DQB1, MST1R, TRPM1,
ALAD {Lead poisoning, susceptibility to}, 612740 (3)
Porphyria, acute hepatic, 612740 (3)
CASP12 {Sepsis, susceptibility to} (3)
DNAH11 Ciliary dyskinesia, primary, 7, with or without situs inversus, 611884 (3)
FUT2 {Norwalk virus infection, resistance to} (3)
{Vitamin B12 plasma level QTL1}, 612542 (3)
[Bombay phenotype, digenic], 616754 (3)
HLA-DQB1 {Celiac disease, susceptibility to}, 212750 (3)
{Creutzfeldt-Jakob disease, variant, resistance to}, 123400 (3)
{Multiple sclerosis, susceptibility to, 1}, 126200 (3)
MST1R {Nasopharyngeal carcinoma, susceptibility to, 3}, 617075 (3)
TRPM1 Night blindness, congenital stationary (complete), 1C, autosomal recessive, 613216 (3)

Genes at Clinical Genomics Database

ALAD, DNAH11, DYX1C1, TRPM1,
ALAD Porphyria, acute hepatic
DNAH11 Ciliary dyskinesia, primary, 7
DYX1C1 Ciliary dyskinesia, primary 25
TRPM1 Night blindness, congenital stationary, type 1C

Genes at HGMD

Summary

Number of Variants: 60
Number of Genes: 55

Export to: CSV
  • Page 1 of 1

ALAD

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 cds 3405_16 9 rs1139488
dbSNP Clinvar
116153900 173.0 A G,C PASS 0/1 14 STOP_GAINED HIGH None 0.35224 0.35220 0.35422 None None None None None None ALAD|0.24202063|32.28%

ANKDD1B

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 cds 3405_16 5 rs34358
dbSNP Clinvar
74965122 643.0 G A PASS 0/1 46 STOP_GAINED HIGH None 0.50699 0.50700 None None None None None None ANKDD1B|0.036539802|66.95%

ARMS2

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 cds 3405_16 10 rs2736911
dbSNP Clinvar
124214355 479.0 C T PASS 0/1 47 STOP_GAINED HIGH None 0.11442 0.11440 0.12546 None None None None None None ARMS2|0.000659964|97.48%

C17orf107

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 cds 3405_16 17 rs35400274
dbSNP Clinvar
4803711 387.0 G A PASS 0/1 42 STOP_GAINED HIGH None 0.22165 0.22160 0.20543 None None None None None None CHRNE|0.06756335|57.98%,C17orf107|0.01484237|77.26%

C1orf167

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 cds 3405_16 1 rs868014
dbSNP Clinvar
11849447 862.0 A G,T PASS 1/1 15 STOP_GAINED HIGH None 0.93291 0.93290 None None None None None None C1orf167|0.000902211|96.01%,MTHFR|0.736730973|7.44%

C2orf83

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 cds 3405_16 2 rs2176186
dbSNP Clinvar
228476140 1158.0 C T PASS 0/1 52 STOP_GAINED HIGH None 0.31390 0.31390 0.28079 None None None None None None C2orf83|0.001157033|94.67%

C5orf20

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 cds 3405_16 5 rs12520799
dbSNP Clinvar
134782450 1177.0 T A PASS 0/1 75 STOP_GAINED HIGH None 0.64517 0.64520 0.40151 None None None None None None DCANP1|0.000625841|97.73%,TIFAB|0.012847206|78.59%

CASP12

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 cds 3405_16 11 rs497116
dbSNP Clinvar
104763117 3070.0 G A PASS 1/1 88 STOP_GAINED HIGH None 0.94848 0.94850 None None None None None None CASP12|0.001761043|91.65%

CPN2

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 cds 3405_16 3 rs4974539
dbSNP Clinvar
194061907 909.0 G A PASS 1/1 39 STOP_GAINED HIGH None 0.28015 0.28020 0.34453 None None None None None None CPN2|0.013888065|77.95%

DNAH11

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 cds 3405_16 7 rs2285943
dbSNP Clinvar
21582963 626.0 G T PASS 0|1 33 STOP_GAINED HIGH None 0.41194 0.41190 0.42685 None None None None None None DNAH11|0.38215847|21.9%

DYX1C1

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 cds 3405_16 15 rs57809907
dbSNP Clinvar
55722882 454.0 C A PASS 0/1 80 STOP_GAINED HIGH None 0.17552 0.17550 0.19988 None None None None None None DYX1C1|0.073770721|56.56%

EFCAB13

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 cds 3405_16 17 rs118004742
dbSNP Clinvar
45468858 655.0 T G PASS 0/1 73 STOP_GAINED HIGH None 0.02316 0.02316 0.04430 None None None None None None EFCAB13|0.004226977|86.7%

FBN3

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 cds 3405_16 19 . 8186194 342.0 G T PASS 0/1 43 STOP_GAINED HIGH None None None None None None None FBN3|0.011258615|79.83%

FOXD4L3

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 cds 3405_16 9 rs7034645
dbSNP Clinvar
70918189 183.0 A T PASS 0/1 11 STOP_GAINED HIGH None None None None None None None FOXD4L3|0.008743252|81.91%

FUT2

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 cds 3405_16 19 rs601338
dbSNP Clinvar
49206674 1709.0 G A PASS 1/1 62 STOP_GAINED HIGH None 0.32169 0.32170 0.49346 None None None None None None FUT2|0.006958625|83.54%

GAB4

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 cds 3405_16 22 rs28502153
dbSNP Clinvar
17469049 408.0 C A PASS 0/1 59 STOP_GAINED HIGH None 0.35363 0.35360 0.33850 None None None None None None GAB4|0.003932508|87.14%

HLA-DQB1

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 cds 3405_16 6 rs1130385
dbSNP Clinvar
32632638 222.0 C A PASS 1/1 7 STOP_GAINED HIGH None 0.01036 None None None None None None HLA-DQB1|0.132406558|45.55%

IFNA10

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 cds 3405_16 9 rs10119910
dbSNP Clinvar
21207037 919.0 A T PASS 0/1 72 STOP_GAINED HIGH None None None None None None None IFNA10|0.00042174|98.84%

KRTAP13-2

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 cds 3405_16 21 rs877346
dbSNP Clinvar
31744127 1488.0 A T PASS 0/1 77 STOP_GAINED HIGH None 0.31809 0.31810 0.39397 None None None None None None KRTAP13-2|0.007131387|83.36%

LACTBL1

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 cds 3405_16 1 rs138431960
dbSNP Clinvar
23280491 108.0 G T PASS 0/1 4 STOP_GAINED HIGH None 0.01178 0.01178 None None None None None None LACTBL1|0.128592718|46.08%

MAGEB16

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 cds 3405_16 X rs4829392
dbSNP Clinvar
35821127 1402.0 C T PASS 0/1 175 STOP_GAINED HIGH None 0.62040 0.62040 0.45504 None None None None None None MAGEB16|0.000965806|95.69%

MAP2K3

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 cds 3405_16 17 rs55796947
dbSNP Clinvar
21204210 809.0 C T PASS 0/1 75 STOP_GAINED HIGH None None None None None None None MAP2K3|0.4379498|18.79%

MS4A12

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 cds 3405_16 11 rs2298553
dbSNP Clinvar
60265002 1287.0 C T PASS 1/1 67 STOP_GAINED HIGH None 0.47824 0.47820 0.45241 None None None None None None MS4A12|0.000555931|98.15%

MST1R

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 cds 3405_16 3 rs1062633
dbSNP Clinvar
49924940 1182.0 T C,A PASS 1/1 26 STOP_GAINED HIGH None 0.41913 0.41910 0.43711 None None None None None None MST1R|0.040225274|65.7%

MUC19

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 cds 3405_16 12 rs11176815
dbSNP Clinvar
40873944 732.0 C G PASS 0/1 147 STOP_GAINED HIGH None 0.17312 0.17310 None None None None None None MUC19|0.001564481|92.49%
View cds 3405_16 12 rs10784618
dbSNP Clinvar
40834955 748.0 C A PASS 0/1 76 STOP_GAINED HIGH None 0.51837 0.51840 None None None None None None MUC19|0.001564481|92.49%
View cds 3405_16 12 rs11176811
dbSNP Clinvar
40873278 723.0 T A PASS 0/1 89 STOP_GAINED HIGH None 0.17312 0.17310 None None None None None None MUC19|0.001564481|92.49%

MUC3A

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 cds 3405_16 7 rs79874934
dbSNP Clinvar
100552738 672.0 C T PASS 0|1 85 STOP_GAINED HIGH None None None None None None None MUC3A|0.001683398|91.94%

MUC6

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 cds 3405_16 11 rs75482640
dbSNP Clinvar
1017041 612.0 G T PASS 0|1 245 STOP_GAINED HIGH None None None None None None None MUC6|0.00166044|92.04%

NCOR1

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 cds 3405_16 17 rs78230791
dbSNP Clinvar
16068343 810.0 G A PASS 0/1 58 STOP_GAINED HIGH None None None None None None None NCOR1|0.942283614|2.42%

OR10J1

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 cds 3405_16 1 rs12409540
dbSNP Clinvar
159410340 1484.0 T A PASS 0/1 70 STOP_GAINED HIGH None 0.08446 0.08446 0.10710 None None None None None None OR10J1|0.010947724|80.11%

OR10X1

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 cds 3405_16 1 rs863362
dbSNP Clinvar
158549492 3070.0 C T PASS 1/1 106 STOP_GAINED HIGH None 0.50240 0.50240 0.48631 None None None None None None OR10X1|0.012275665|79.05%

OR2L8

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 cds 3405_16 1 rs10888281
dbSNP Clinvar
248113026 2906.0 T A PASS 1/1 66 STOP_GAINED HIGH None 0.74581 0.74580 0.25235 None None None None None None OR2L13|0.004043561|86.95%,OR2L8|0.001567189|92.47%

OR4C3

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 cds 3405_16 11 rs72473368
dbSNP Clinvar
48347014 522.0 G A PASS 0/1 116 STOP_GAINED HIGH None None None None None None None OR4C3|0.012915684|78.55%

OR4P4

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 cds 3405_16 11 rs76160133
dbSNP Clinvar
55406022 598.0 C G PASS 0/1 129 STOP_GAINED HIGH None 0.28514 0.28510 0.13421 None None None None None None OR4P4|0.003381547|87.96%

OR4X1

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 cds 3405_16 11 rs10838851
dbSNP Clinvar
48286231 468.0 T A PASS 0/1 76 STOP_GAINED HIGH None 0.60423 0.60420 0.30936 None None None None None None OR4X1|0.01331956|78.29%

OR52N4

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 cds 3405_16 11 rs4910844
dbSNP Clinvar
5776484 1172.0 A T PASS 0/1 128 STOP_GAINED HIGH None 0.21446 0.21450 0.20916 None None None None None None TRIM5|0.00243037|89.82%,OR52N4|0.035426134|67.34%

OR5AR1

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 cds 3405_16 11 rs11228710
dbSNP Clinvar
56431216 1068.0 C T PASS 0/1 87 STOP_GAINED HIGH None 0.62300 0.62300 0.42966 None None None None None None OR5AR1|0.094213809|52.31%

OR6C74

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 cds 3405_16 12 rs4522268
dbSNP Clinvar
55641255 874.0 C T PASS 0/1 121 STOP_GAINED HIGH None 0.23562 0.23560 0.27195 None None None None None None OR6C74|0.008073423|82.57%

P4HA3

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 cds 3405_16 11 rs3741132
dbSNP Clinvar
73978243 407.0 G A PASS 0/1 42 STOP_GAINED HIGH None 0.22664 0.22660 0.18589 None None None None None None P4HA3|0.142053644|44.14%

PDE4DIP

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 cds 3405_16 1 rs1778111
dbSNP Clinvar
144915561 2016.0 G A PASS 0/1 145 STOP_GAINED HIGH None None None None None None None PDE4DIP|0.07469644|56.36%
View cds 3405_16 1 rs1698683
dbSNP Clinvar
144916676 379.0 C T PASS 0/1 169 STOP_GAINED HIGH None 0.32120 None None None None None None PDE4DIP|0.07469644|56.36%
View cds 3405_16 1 rs2762779
dbSNP Clinvar
145075683 237.0 C T PASS 0/1 14 STOP_GAINED HIGH None None None None None None None PDE4DIP|0.07469644|56.36%

PKD1L2

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 cds 3405_16 16 rs12925771
dbSNP Clinvar
81199544 691.0 G A PASS 0/1 36 STOP_GAINED HIGH None 0.38718 0.38720 0.22989 None None None None None None PKD1L2|0.005531409|85.17%
View cds 3405_16 16 rs7499011
dbSNP Clinvar
81242198 1231.0 G A PASS 0/1 50 STOP_GAINED HIGH None 0.16174 0.16170 0.29020 None None None None None None PKD1L2|0.005531409|85.17%

PMM1

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 cds 3405_16 22 rs575496010
dbSNP Clinvar
41982167 336.0 G A PASS 0/1 24 STOP_GAINED HIGH None 0.00020 0.00020 None None None None None None PMM1|0.309841277|26.84%

PRIM2

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 cds 3405_16 6 rs62398999
dbSNP Clinvar
57398270 870.0 C T PASS 0/1 213 STOP_GAINED HIGH None None None None None None None PRIM2|0.188824743|37.96%

PSG1

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 cds 3405_16 19 rs12986075
dbSNP Clinvar
43373034 1359.0 G A PASS 0/1 127 STOP_GAINED HIGH None 0.07189 0.07188 0.14099 None None None None None None PSG1|0.00054575|98.2%

SLC22A10

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 cds 3405_16 11 rs1790218
dbSNP Clinvar
63057925 1007.0 G A PASS 0/1 71 STOP_GAINED HIGH None 0.43351 0.43350 0.47938 None None None None None None SLC22A10|0.000698114|97.25%

SLC22A24

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 cds 3405_16 11 rs11231341
dbSNP Clinvar
62848487 2889.0 A C PASS 1/1 67 STOP_GAINED HIGH None 0.75399 0.75400 0.25340 None None None None None None SLC22A24|0.000834138|96.47%

SLC6A18

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 cds 3405_16 5 rs7447815
dbSNP Clinvar
1240757 312.0 C G PASS 0/1 43 STOP_GAINED HIGH None 0.00060 0.34860 0.36445 None None None None None None SLC6A18|0.029366379|69.67%

SYT8

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cds 3405_16 11 rs143303623
dbSNP Clinvar
1857989 535.0 G T PASS 0/1 52 STOP_GAINED HIGH None 0.00040 0.00040 0.00023 None None None None None None SYT8|0.001620836|92.25%

TBC1D3

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cds 3405_16 17 . 36342590 508.0 A G,C PASS 1/1 10 STOP_GAINED HIGH None None None None None None None TBC1D3F|0.001324582|93.73%,TBC1D3|0.001314846|93.78%

TRPM1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cds 3405_16 15 rs3784589
dbSNP Clinvar
31294714 962.0 C A PASS 0/1 147 STOP_GAINED HIGH None 0.06829 0.06829 0.06359 None None None None None None TRPM1|0.068591647|57.82%

TTC4

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cds 3405_16 1 rs1147990
dbSNP Clinvar
55182300 615.0 T A PASS 1/1 27 STOP_GAINED HIGH None 0.66833 0.66830 0.47509 0.27 0.00 None None None None None None TTC4|0.085109121|54.15%

UBE2NL

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cds 3405_16 X rs237520
dbSNP Clinvar
142967468 3070.0 T G PASS 1/1 135 STOP_GAINED HIGH None 0.61748 0.61750 0.33314 None None None None None None UBE2NL|0.004200754|86.73%

USP29

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cds 3405_16 19 rs9973206
dbSNP Clinvar
57642782 3010.0 C A PASS 1/1 71 STOP_GAINED HIGH None 0.95208 0.95210 0.11704 None None None None None None USP29|0.000863165|96.27%

ZACN

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cds 3405_16 17 rs1043149
dbSNP Clinvar
74077797 907.0 C T PASS 1/1 39 STOP_GAINED HIGH None 0.18890 0.18890 0.15001 None None None None None None ZACN|0.001720136|91.81%,EXOC7|0.311837374|26.7%

ZNF790

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cds 3405_16 19 rs1227794
dbSNP Clinvar
37310351 655.0 G A PASS 0/1 81 STOP_GAINED HIGH None 0.02476 0.02476 0.02853 None None None None None None ZNF790|0.002053494|90.84%

ZNF80

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cds 3405_16 3 rs3732781
dbSNP Clinvar
113955187 1388.0 A C PASS 0/1 81 STOP_GAINED HIGH None 0.18550 0.18550 0.20637 None None None None None None ZNF80|0.001570762|92.46%
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