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Genes at Omim

ABCC2, ALG9, CCDC39, CEL, FCN3, HLA-A, HLA-B, HLA-DRB1, HLA-G, PEX16, SCARF2, SON, TGFBR2, ZNF141,
ABCC2 Dubin-Johnson syndrome, 237500 (3)
ALG9 Congenital disorder of glycosylation, type Il, 608776 (3)
Gillessen-Kaesbach-Nishimura syndrome, 263210 (3)
CCDC39 Ciliary dyskinesia, primary, 14, 613807 (3)
CEL Maturity-onset diabetes of the young, type VIII, 609812 (3)
FCN3 Immunodeficiency due to ficolin 3 deficiency, 613860 (3)
HLA-A {Hypersensitivity syndrome, carbamazepine-induced, susceptibility to}, 608579 (3)
HLA-B {Drug-induced liver injury due to flucloxacillin} (3)
{Spondyloarthropathy, susceptibility to, 1}, 106300 (3)
{Stevens-Johnson syndrome, susceptibility to}, 608579 (3)
{Synovitis, chronic, susceptibility to} (3)
{Toxic epidermal necrolysis, susceptibility to}, 608579 (3)
{Abacavir hypersensitivity, susceptibility to} (3)
HLA-DRB1 {Multiple sclerosis, susceptibility to, 1}, 126200 (3)
{Sarcoidosis, susceptibility to, 1}, 181000 (3)
HLA-G {Asthma, susceptibility to}, 600807 (2)
PEX16 Peroxisome biogenesis disorder 8A (Zellweger), 614876 (3)
Peroxisome biogenesis disorder 8B, 614877 (3)
SCARF2 Van den Ende-Gupta syndrome, 600920 (3)
SON ZTTK syndrome, 617140 (3)
TGFBR2 Colorectal cancer, hereditary nonpolyposis, type 6, 614331 (3)
Esophageal cancer, somatic, 133239 (3)
Loeys-Dietz syndrome 2, 610168 (3)
ZNF141 ?Polydactyly, postaxial, type A6, 615226 (3)

Genes at Clinical Genomics Database

ABCC2, ALG9, CCDC39, CEL, FCN3, HLA-A, HLA-B, PEX16, SCARF2, TGFBR2, ZNF141, ZNF480,
ABCC2 Dubin-Johnson syndrome
ALG9 Congenital disorder of glycosylation, type Il
CCDC39 Ciliary dyskinesia, primary, 14
CEL Maturity-onset diabetes of the young, type 8
FCN3 Immunodeficiency due to Ficolin 3 deficiency
HLA-A Drug-induced toxicity, susceptibility to
HLA-B Drug-induced toxicity, susceptibility to
PEX16 Peroxisome biogenesis factor disorder 16
SCARF2 Van den Ende-Gupta syndrome
TGFBR2 Loeys-Dietz syndrome, type 2B
Loeys-Dietz syndrome, type 1B
ZNF141 Postaxial polydactyly type A, autosomal recessive
ZNF480 Schizophrenia

Genes at HGMD

Summary

Number of Variants: 176
Number of Genes: 132

Export to: CSV

ABCC2

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 2388 10 . 101577229 46.99 GA G PASS 0/1 15 FRAME_SHIFT HIGH None None None None None None ABCC2|0.186653982|38.2%

AC005609.1

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 2388 5 rs11321479
dbSNP Clinvar
140242451 43.89 GC G PASS 1/1 2 FRAME_SHIFT HIGH 0.63079 0.63080 None None None None None None PCDHA1|0.053770874|61.55%,PCDHA2|0.022057729|73.14%,PCDHA3|0.065561586|58.47%,PCDHA4|0.052208094|62.01%,PCDHA5|0.043866789|64.55%,PCDHA6|0.050872533|62.4%,PCDHA7|0.028518768|70.18%,PCDHA8|0.015875262|76.54%,PCDHA9|0.018630148|74.91%,PCDHA10|0.087661567|53.69%

AC132186.1

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 2388 16 rs146225280
dbSNP Clinvar
66518664 11.4 AC A LowDepth 1/1 1 FRAME_SHIFT HIGH 0.03115 0.03115 None None None None None None BEAN1|0.014751978|77.33%

AGAP6

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 2388 10 rs141217862
dbSNP Clinvar
51768674 28.01 CAA C PASS 0/1 32 FRAME_SHIFT HIGH 0.11801 0.11800 None None None None None None AGAP6|0.003119632|88.45%

AKAP3

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 2388 12 rs67512580
dbSNP Clinvar
4735969 46.99 GA G PASS 0/1 11 FRAME_SHIFT HIGH 0.13195 None None None None None None AKAP3|0.022604217|72.88%
View 2388 12 rs200178782,rs397849865
dbSNP Clinvar
4735965 46.79 T TC PASS 0/1 11 FRAME_SHIFT HIGH 0.12956 None None None None None None AKAP3|0.022604217|72.88%

AL133373.1

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 2388 14 rs34650717
dbSNP Clinvar
92040589 50.0 TC T PASS 0/1 10 FRAME_SHIFT HIGH 0.49900 0.49900 0.48349 None None None None None None None

AL390778.1

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 2388 9 rs768740872
dbSNP Clinvar
138151032 10.4 CGG C PASS 0|1 2 FRAME_SHIFT HIGH None None None None None None None
View 2388 9 rs748734234
dbSNP Clinvar
138151035 16.05 C CAA PASS 0|1 1 FRAME_SHIFT HIGH None None None None None None None

ALG9

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 2388 11 rs10708475
dbSNP Clinvar
111742145 131.29 CG C PASS 1/1 28 FRAME_SHIFT HIGH 1.00000 1.00000 0.00040 None None None None None None ALG9|0.352156163|23.94%

ANKRD18A

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 2388 9 . 38620095 11.51 GC G PASS 1/1 1 FRAME_SHIFT HIGH None None None None None None ANKRD18A|0.001240448|94.24%

AOAH

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 2388 7 rs59476355
dbSNP Clinvar
36552729 65.19 A AT PASS 1/1 6 FRAME_SHIFT HIGH 0.99980 0.99980 None None None None None None AOAH|0.05743156|60.58%
View 2388 7 rs57543920
dbSNP Clinvar
36552790 56.98 G GT PASS 1/1 3 FRAME_SHIFT HIGH 0.87740 0.87740 None None None None None None AOAH|0.05743156|60.58%

AQP12B

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 2388 2 rs201917032
dbSNP Clinvar
241621799 40.75 GC G PASS 0/1 40 FRAME_SHIFT HIGH 0.23203 0.23200 0.19662 None None None None None None AQP12B|0.003305104|88.08%

ARMCX4

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 2388 X . 100746468 5.59 CA C DRAGENIndelHardQUAL;LowDepth 1/1 1 FRAME_SHIFT HIGH None None None None None None ARMCX4|0.006015436|84.57%

ATG9B

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 2388 7 rs11393607,rs77573754
dbSNP Clinvar
150713902 149.3 G GC PASS 1/1 34 FRAME_SHIFT HIGH 1.00000 1.00000 0.00099 None None None None None None ATG9B|0.090467592|53.12%

B3GNT6

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 2388 11 rs11292198,rs796338514
dbSNP Clinvar
76751541 8.69 CT C LowDepth 1/1 1 FRAME_SHIFT HIGH 1.00000 1.00000 None None None None None None B3GNT6|0.006722766|83.81%
View 2388 11 rs11292200,rs796140348
dbSNP Clinvar
76751603 43.87 CT C PASS 1/1 2 FRAME_SHIFT HIGH 1.00000 1.00000 0.00025 None None None None None None B3GNT6|0.006722766|83.81%
View 2388 11 rs11292199
dbSNP Clinvar
76751584 11.38 CT C LowDepth 1/1 1 FRAME_SHIFT HIGH 1.00000 1.00000 None None None None None None B3GNT6|0.006722766|83.81%

C10ORF68

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 2388 10 rs528676800,rs371466318
dbSNP Clinvar
33136818 49.28 TAA T PASS 0/1 12 FRAME_SHIFT HIGH 0.01577 0.01577 0.03340 None None None None None None None

C17orf100

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 2388 17 rs56268735,rs397697335
dbSNP Clinvar
6555546 122.19 C CG PASS 1/1 25 FRAME_SHIFT HIGH 0.99980 0.99980 0.00401 None None None None None None C17orf100|0.00636282|84.22%

C21orf49

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 2388 21 rs72564613
dbSNP Clinvar
34169317 50.0 C CT PASS 0/1 8 FRAME_SHIFT HIGH 0.73183 0.73180 None None None None None None C21orf62-AS1|0.000768866|96.88%,C21orf62|0.009914309|80.91%

CAPN11

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 2388 6 rs57288791,rs397947482
dbSNP Clinvar
44140054 39.72 T TG... PASS 0/1 7 FRAME_SHIFT HIGH 0.06589 0.06589 0.06568 None None None None None None CAPN11|0.010375422|80.57%

CASP5

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 2388 11 rs112680102
dbSNP Clinvar
104878040 4.52 G GT DRAGENIndelHardQUAL 0/1 8 FRAME_SHIFT HIGH None None None None None None CASP5|0.002670175|89.33%

CASP9

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 2388 1 rs2234723,rs397776921
dbSNP Clinvar
15820307 28.25 A AC PASS 0/1 3 FRAME_SHIFT HIGH 0.23582 0.23580 None None None None None None CASP9|0.380237916|22.03%

CBWD3

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 2388 9 rs200498038
dbSNP Clinvar
70900911 36.29 G GA PASS 1/1 5 FRAME_SHIFT HIGH 0.49062 0.49060 0.46181 None None None None None None CBWD3|0.033490012|67.95%

CCDC163P

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 2388 1 . 45965037 14.6 AG... A PASS 0/1 38 FRAME_SHIFT HIGH None None None None None None CCDC163P|0.014743479|77.34%

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 2388 17 . 55822502 9.53 TG T LowDepth 1/1 1 FRAME_SHIFT HIGH None None None None None None None

CCDC39

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 2388 3 rs200353947
dbSNP Clinvar
180334077 50.0 T TA PASS 0/1 14 FRAME_SHIFT HIGH 0.00539 0.00539 0.00744 None None None None None None TTC14|0.325934886|25.76%,CCDC39|0.085554052|54.04%

CD177

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 2388 19 rs782303811
dbSNP Clinvar
43865324 17.16 A AAG PASS 0|1 4 FRAME_SHIFT HIGH None None None None None None CD177|0.000416107|98.86%

CDCP2

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 2388 1 rs36013100
dbSNP Clinvar
54605319 155.35 G GC PASS 1/1 36 FRAME_SHIFT HIGH 0.47983 0.47980 None None None None None None CDCP2|0.053440915|61.64%

CEL

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 2388 9 . 135946657 47.05 G GC PASS 0/1 21 FRAME_SHIFT HIGH None None None None None None CEL|0.037714386|66.56%

CHRFAM7A

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 2388 15 rs201490160
dbSNP Clinvar
30665280 17.13 TCA T PASS 0/1 10 FRAME_SHIFT HIGH 0.38698 0.38700 0.34599 None None None None None None CHRFAM7A|0.105656151|50.1%

CLDN5

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 2388 22 . 19511995 5.07 GC G DRAGENIndelHardQUAL 1/1 1 FRAME_SHIFT HIGH None None None None None None CLDN5|0.101200006|50.93%

CLECL1

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 2388 12 rs71045297,rs113222621
dbSNP Clinvar
9885707 65.19 A AT... PASS 1/1 6 FRAME_SHIFT HIGH 0.54872 0.54870 0.43154 None None None None None None CLECL1|0.001440928|93.09%

COL26A1

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 2388 7 rs36008849,rs398095266
dbSNP Clinvar
101200669 86.12 A AG PASS 1/1 13 FRAME_SHIFT HIGH 1.00000 1.00000 0.00137 None None None None None None COL26A1|0.059520302|60.03%

COL6A5

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 2388 3 rs11355796,rs398091810
dbSNP Clinvar
130190720 62.31 AT A PASS 1/1 5 FRAME_SHIFT HIGH 0.49161 0.49160 None None None None None None COL6A5|0.015397469|76.88%

CPNE1

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 2388 20 rs147019139
dbSNP Clinvar
34215234 47.11 C CA PASS 0/1 37 FRAME_SHIFT HIGH 0.10603 0.10600 0.10050 None None None None None None CPNE1|0.256351532|31.02%

CRIPAK

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 2388 4 rs540461234
dbSNP Clinvar
1388622 42.62 T TCA PASS 0/1 28 FRAME_SHIFT HIGH 0.10104 0.10100 None None None None None None CRIPAK|0.000914016|95.95%

CTAGE5

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 2388 14 . 39746242 8.27 C CT PASS 0/1 5 FRAME_SHIFT HIGH None None None None None None CTAGE5|0.090584554|53.11%

CYP2F1

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 2388 19 rs3833221,rs79756737
dbSNP Clinvar
41622107 46.99 G GC PASS 0/1 12 FRAME_SHIFT HIGH 0.27197 0.27200 0.25555 None None None None None None CYP2F1|0.005806489|84.82%

DCAF7

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 2388 17 rs66502552,rs398031306
dbSNP Clinvar
61660889 95.12 CG C PASS 1/1 16 FRAME_SHIFT HIGH 1.00000 1.00000 0.00026 None None None None None None DCAF7|0.572121444|12.88%

DEFB126

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 2388 20 rs11467417,rs386393058
dbSNP Clinvar
126310 77.17 ACC A PASS 1/1 10 FRAME_SHIFT HIGH 0.43378 None None None None None None DEFB126|0.000084056|99.96%

DUSP13

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 2388 10 rs3832680
dbSNP Clinvar
76858961 30.41 CT C PASS 0/1 5 FRAME_SHIFT HIGH 0.33047 0.33050 None None None None None None DUSP13|0.067435688|58.05%

EME2

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 2388 16 rs377074694
dbSNP Clinvar
1823389 50.0 CG C PASS 0/1 31 FRAME_SHIFT HIGH 0.01278 0.01278 0.01896 None None None None None None EME2|0.002610896|89.45%

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 2388 17 rs748798085
dbSNP Clinvar
72889684 24.28 T TA PASS 0|1 49 FRAME_SHIFT HIGH None None None None None None FADS6|0.029483585|69.62%
View 2388 17 . 72889685 10.27 G GG... PASS 0|1 49 FRAME_SHIFT HIGH None None None None None None FADS6|0.029483585|69.62%

FCN3

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 2388 1 rs532781899
dbSNP Clinvar
27699670 49.28 AG A PASS 0/1 44 FRAME_SHIFT HIGH 0.01877 0.01877 0.02109 None None None None None None FCN3|0.008201885|82.47%

GAS2L1

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 2388 22 rs34777709,rs397759036,rs397706110
dbSNP Clinvar
29707639 80.07 G GC PASS 1/1 11 FRAME_SHIFT HIGH 1.00000 1.00000 0.00832 None None None None None None GAS2L1|0.022794635|72.8%

GNRH2

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 2388 20 rs16996832,rs763863070
dbSNP Clinvar
3026345 19.27 A AG... PASS 0/1 52 FRAME_SHIFT HIGH 0.14557 0.14560 None None None None None None GNRH2|0.0055782|85.13%

GPATCH4

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 2388 1 rs72559129
dbSNP Clinvar
156565049 116.2 A AAC PASS 1/1 23 FRAME_SHIFT HIGH 0.99421 0.99420 0.00871 None None None None None None GPATCH4|0.009985342|80.84%

GRIN3B

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 2388 19 rs10666583
dbSNP Clinvar
1004896 43.66 G GCGTT PASS 0/1 41 FRAME_SHIFT HIGH 0.15915 0.15910 0.23947 None None None None None None GRIN3B|0.010791412|80.29%

GRP

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 2388 18 rs149962068
dbSNP Clinvar
56897667 47.48 TGAAG T PASS 0/1 14 FRAME_SHIFT HIGH 0.01558 0.01558 0.03124 None None None None None None GRP|0.083217284|54.54%

HLA-A

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 2388 6 rs778137446
dbSNP Clinvar
29910774 40.24 TG T PASS 0|1 11 FRAME_SHIFT HIGH None None None None None None HLA-A|0.043055872|64.8%
View 2388 6 rs775073538
dbSNP Clinvar
29910779 42.33 G GCTCC PASS 0|1 11 FRAME_SHIFT HIGH None None None None None None HLA-A|0.043055872|64.8%
View 2388 6 rs757867739
dbSNP Clinvar
29911111 11.76 ACC A PASS 0|1 41 FRAME_SHIFT HIGH None None None None None None HLA-A|0.043055872|64.8%
View 2388 6 rs757622018
dbSNP Clinvar
29911115 12.88 G GAA PASS 0|1 40 FRAME_SHIFT HIGH None None None None None None HLA-A|0.043055872|64.8%
View 2388 6 rs796242943
dbSNP Clinvar
29910724 7.84 ACG A PASS 0|1 35 FRAME_SHIFT HIGH None None None None None None HLA-A|0.043055872|64.8%
View 2388 6 rs576213756
dbSNP Clinvar
29910728 11.52 A AG PASS 0|1 35 FRAME_SHIFT HIGH 0.00080 0.00080 None None None None None None HLA-A|0.043055872|64.8%
View 2388 6 rs775079480
dbSNP Clinvar
29910732 11.51 T TC PASS 0|1 35 FRAME_SHIFT HIGH None None None None None None HLA-A|0.043055872|64.8%
View 2388 6 rs774211961
dbSNP Clinvar
29910755 37.87 C CTA PASS 0|1 18 FRAME_SHIFT HIGH None None None None None None HLA-A|0.043055872|64.8%
View 2388 6 rs750632693
dbSNP Clinvar
29910760 33.75 GGA G PASS 0|1 16 FRAME_SHIFT HIGH None None None None None None HLA-A|0.043055872|64.8%

HLA-B

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 2388 6 rs749557905
dbSNP Clinvar
31324528 57.0 G GTT PASS 1|1 3 FRAME_SHIFT HIGH None None None None None None HLA-B|0.04113834|65.4%
View 2388 6 rs760342210
dbSNP Clinvar
31324205 45.8 G GCC PASS 0|1 7 FRAME_SHIFT HIGH None None None None None None HLA-B|0.04113834|65.4%
View 2388 6 rs753354858
dbSNP Clinvar
31324207 60.22 AGG A PASS 1|1 6 FRAME_SHIFT HIGH None None None None None None HLA-B|0.04113834|65.4%
View 2388 6 rs750527298
dbSNP Clinvar
31324524 57.0 GCC G PASS 1|1 3 FRAME_SHIFT HIGH None None None None None None HLA-B|0.04113834|65.4%
View 2388 6 rs9281379
dbSNP Clinvar
31324601 71.11 C CG PASS 1|1 8 FRAME_SHIFT HIGH 0.00679 0.31639 None None None None None None HLA-B|0.04113834|65.4%
View 2388 6 rs200186034
dbSNP Clinvar
31324603 71.11 CT C PASS 1|1 8 FRAME_SHIFT HIGH 0.44242 None None None None None None HLA-B|0.04113834|65.4%

HLA-DRB1

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 2388 6 rs767010367
dbSNP Clinvar
32552146 45.71 AG A PASS 0|1 13 FRAME_SHIFT HIGH None None None None None None HLA-DRB1|0.032266025|68.49%
View 2388 6 rs769556955
dbSNP Clinvar
32552129 47.61 C CA... PASS 0|1 23 FRAME_SHIFT HIGH None None None None None None HLA-DRB1|0.032266025|68.49%
View 2388 6 rs754316114
dbSNP Clinvar
32552132 40.43 TC... T PASS 0|1 19 FRAME_SHIFT HIGH None None None None None None HLA-DRB1|0.032266025|68.49%
View 2388 6 rs768883657
dbSNP Clinvar
32552140 47.48 TG T PASS 0|1 14 FRAME_SHIFT HIGH None None None None None None HLA-DRB1|0.032266025|68.49%
View 2388 6 rs773489989
dbSNP Clinvar
32552144 45.72 AC A PASS 0|1 13 FRAME_SHIFT HIGH None None None None None None HLA-DRB1|0.032266025|68.49%

HLA-G

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 2388 6 rs41557518
dbSNP Clinvar
29796434 46.23 AC A PASS 0/1 53 FRAME_SHIFT HIGH 0.02835 0.02835 0.03094 None None None None None None HLA-G|0.003244426|88.25%

HSH2D

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 2388 19 rs5827321,rs398079755,rs398034064
dbSNP Clinvar
16268207 77.09 TA T PASS 1/1 10 FRAME_SHIFT HIGH 1.00000 1.00000 None None None None None None HSH2D|0.00157436|92.44%

ITIH5

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 2388 10 rs61199416,rs398102295
dbSNP Clinvar
7605077 101.17 TC T PASS 1/1 18 FRAME_SHIFT HIGH 0.90355 0.90360 0.09682 None None None None None None ITIH5|0.026992759|70.89%

KIAA0040

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 2388 1 rs754204844
dbSNP Clinvar
175129945 50.0 TC T PASS 0|1 8 FRAME_SHIFT HIGH None None None None None None KIAA0040|0.065409428|58.51%
View 2388 1 rs762930078
dbSNP Clinvar
175129947 50.0 TT... T PASS 0|1 9 FRAME_SHIFT HIGH None None None None None None KIAA0040|0.065409428|58.51%

KRT24

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 2388 17 rs11309872
dbSNP Clinvar
38858134 59.55 CA C PASS 1/1 4 FRAME_SHIFT HIGH 0.46486 0.46490 0.36867 None None None None None None KRT24|0.036955337|66.8%

KRTAP19-6

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 2388 21 rs5843453
dbSNP Clinvar
31913981 71.11 AG A PASS 1|1 8 FRAME_SHIFT HIGH 0.78714 0.78710 None None None None None None KRTAP19-6|0.002299977|90.16%

LAPTM4B

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 2388 8 . 98788165 50.0 C CG... PASS 0/1 17 FRAME_SHIFT HIGH None None None None None None LAPTM4B|0.062005498|59.31%

LEPREL2

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 2388 12 rs57050687
dbSNP Clinvar
6938023 74.1 C CG PASS 1/1 9 FRAME_SHIFT HIGH 1.00000 0.00447 None None None None None None GPR162|0.14385703|43.89%,P3H3|0.042788046|64.86%

MADCAM1

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 2388 19 rs768810399,rs71171990
dbSNP Clinvar
501701 136.32 G GG... PASS 1/2 9 FRAME_SHIFT HIGH None None None None None None MADCAM1|0.001269149|94.05%
View 2388 19 rs758941486
dbSNP Clinvar
501697 49.2 T TC... PASS 0/1 10 FRAME_SHIFT HIGH None None None None None None MADCAM1|0.001269149|94.05%

MAML3

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 2388 4 rs58287721
dbSNP Clinvar
140811085 103.24 TG... T PASS 1|1 19 FRAME_SHIFT HIGH 0.00919 0.00919 None None None None None None MAML3|0.444017284|18.48%
View 2388 4 rs373804063
dbSNP Clinvar
140811083 102.49 GC G PASS 1|1 19 FRAME_SHIFT HIGH None None None None None None MAML3|0.444017284|18.48%

MICA

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 2388 6 rs41293539
dbSNP Clinvar
31380161 76.91 G GCT PASS 1/1 10 FRAME_SHIFT HIGH 0.00659 0.23380 None None None None None None MICA|0.000484981|98.52%

MMP28

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 2388 17 rs58543174
dbSNP Clinvar
34100350 101.18 G GC PASS 1/1 18 FRAME_SHIFT HIGH 1.00000 1.00000 0.00208 None None None None None None MMP28|0.028140443|70.36%

MS4A14

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 2388 11 rs3217518
dbSNP Clinvar
60165352 107.2 ATT A PASS 1/1 20 FRAME_SHIFT HIGH 0.58706 0.58710 0.40829 None None None None None None MS4A14|0.000550519|98.18%

MUC20

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 2388 3 rs144288174
dbSNP Clinvar
195453017 43.96 GC G PASS 0/1 37 FRAME_SHIFT HIGH 0.08766 0.08766 0.11709 None None None None None None MUC20|0.001041752|95.22%

MZT2A

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 2388 2 rs776427362
dbSNP Clinvar
132249916 30.03 AC A PASS 0/1 3 FRAME_SHIFT HIGH 0.11370 None None None None None None MZT2A|0.008649359|81.99%

NCAM1

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 2388 11 rs11381910
dbSNP Clinvar
112832307 89.13 G GA PASS 1/1 14 FRAME_SHIFT HIGH 0.99980 0.99980 None None None None None None NCAM1|0.995998055|0.75%
View 2388 11 rs11284059,rs796286007
dbSNP Clinvar
112832339 77.1 GC G PASS 1|1 10 FRAME_SHIFT HIGH 1.00000 1.00000 None None None None None None NCAM1|0.995998055|0.75%

NLRC3

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 2388 16 rs56070390,rs398078461,rs796086799
dbSNP Clinvar
3602227 245.6 AG A PASS 1/1 66 FRAME_SHIFT HIGH 1.00000 1.00000 0.00017 None None None None None None NLRC3|0.028009063|70.4%

NOP16

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 2388 5 rs56989856,rs397961096
dbSNP Clinvar
175811094 42.98 C CGT PASS 1/1 2 FRAME_SHIFT HIGH None None None None None None ARL10|0.060845523|59.64%,NOP16|0.115932648|48.14%

OBP2A

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 2388 9 rs112851559
dbSNP Clinvar
138441685 38.11 G GC PASS 0/1 14 FRAME_SHIFT HIGH 0.33467 0.33470 None None None None None None OBP2A|0.000333312|99.28%

OR11G2

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 2388 14 rs55781225,rs398077614,rs77164062
dbSNP Clinvar
20666175 42.89 C CA PASS 0/1 20 FRAME_SHIFT HIGH 0.30532 None None None None None None OR11G2|0.032970831|68.17%

OR12D1

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 2388 6 rs201607074
dbSNP Clinvar
29385608 54.78 G GC... PASS 1/1 2 FRAME_SHIFT HIGH 0.27416 0.27420 None None None None None None OR5V1|0.002888171|88.86%

OR1B1

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 2388 9 rs11421222,rs78126045
dbSNP Clinvar
125391770 91.86 C CA PASS 1/1 15 FRAME_SHIFT HIGH 0.40855 0.40850 0.47541 None None None None None None OR1B1|0.014476392|77.51%

OR2B11

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 2388 1 rs35305980,rs397733455
dbSNP Clinvar
247615261 92.15 GA G PASS 1/1 15 FRAME_SHIFT HIGH 0.44908 0.44910 0.39479 None None None None None None OR2B11|0.022051192|73.15%