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Genes at Omim

CASP12, CYP21A2, FUT2, HLA-DRB1, IGSF3, KMT2C, NDUFB9, TTN,
CASP12 {Sepsis, susceptibility to} (3)
CYP21A2 Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 201910 (3)
Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, 201910 (3)
FUT2 {Norwalk virus infection, resistance to} (3)
{Vitamin B12 plasma level QTL1}, 612542 (3)
[Bombay phenotype, digenic], 616754 (3)
HLA-DRB1 {Multiple sclerosis, susceptibility to, 1}, 126200 (3)
{Sarcoidosis, susceptibility to, 1}, 181000 (3)
IGSF3 ?Lacrimal duct defect, 149700 (3)
KMT2C Kleefstra syndrome 2, 617768 (3)
NDUFB9 ?Mitochondrial complex I deficiency, nuclear type 24, 618245 (3)
TTN Cardiomyopathy, dilated, 1G, 604145 (3)
Cardiomyopathy, familial hypertrophic, 9, 613765 (3)
Muscular dystrophy, limb-girdle, autosomal recessive 10, 608807 (3)
Myopathy, proximal, with early respiratory muscle involvement, 603689 (3)
Salih myopathy, 611705 (3)
Tibial muscular dystrophy, tardive, 600334 (3)

Genes at Clinical Genomics Database

CYP21A2, IGSF3, TTN,
CYP21A2 Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency
Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency
IGSF3 Lacrimal duct defect
TTN Cardiomyopathy, familial hypertrophic 9
Cardiomyopathy, dilated, 1G

Genes at HGMD

Summary

Number of Variants: 49
Number of Genes: 40

Export to: CSV
  • Page 1 of 1

AKR1E2

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 mmg003343 10 rs12240276
dbSNP Clinvar
4889403 1941.77 C T PASS 0/1 182 STOP_GAINED HIGH None 0.07847 0.07847 0.10964 None None None None None None AKR1E2|0.003819928|87.28%

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 mmg003343 11 rs497116
dbSNP Clinvar
104763117 3272.77 G A PASS 1/1 107 STOP_GAINED HIGH None 0.94848 0.94850 None None None None None None CASP12|0.001761043|91.65%

CCHCR1

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 mmg003343 6 rs3130453
dbSNP Clinvar
31124849 1395.77 C T PASS 0/1 124 STOP_GAINED HIGH None 0.46925 0.46920 0.48507 None None None None None None CCHCR1|0.032661886|68.3%

CDC27

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 mmg003343 17 rs62077264
dbSNP Clinvar
45234360 344.77 A C PASS 0/1 63 STOP_GAINED HIGH None None None None None None None CDC27|0.658499283|9.78%

CEP170

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 mmg003343 1 rs2728433
dbSNP Clinvar
243328887 50.77 G T LowQD 0/1 109 STOP_GAINED HIGH None None None None None None None CEP170|0.244807399|32.03%

CNTN5

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 mmg003343 11 rs12292659
dbSNP Clinvar
99690376 151.77 C T PASS 0/1 74 STOP_GAINED HIGH None 0.23515 None None None None None None CNTN5|0.790800052|6.1%

CTBP2

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 mmg003343 10 rs73373169
dbSNP Clinvar
126678092 1576.77 G A PASS 0/1 250 STOP_GAINED HIGH None None None None None None None CTBP2|0.585435328|12.33%

CYP21A2

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 mmg003343 6 rs7755898
dbSNP Clinvar
32008198 41.77 C T LowQD;LowQual 0/1 188 STOP_GAINED HIGH None None None None None None None CYP21A2|0.039907204|65.79%

DHRS4L2

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 mmg003343 14 rs1811890
dbSNP Clinvar
24470138 1018.77 C T PASS 0/1 98 STOP_GAINED HIGH None 0.12879 0.12880 0.05990 None None None None None None DHRS4L2|0.007168249|83.32%

FAM166A

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 mmg003343 9 rs577620824
dbSNP Clinvar
140140241 2049.77 G A PASS 0/1 178 STOP_GAINED HIGH None 0.00080 0.00080 None None None None None None FAM166A|0.005657938|85.03%

FMO6P

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 mmg003343 1 rs1736565
dbSNP Clinvar
171112490 822.77 C T PASS 0/1 105 STOP_GAINED HIGH None 0.63798 0.63800 None None None None None None FMO6P|0.046611182|63.71%

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 mmg003343 19 rs601338
dbSNP Clinvar
49206674 574.77 G A PASS 0/1 39 STOP_GAINED HIGH None 0.32169 0.32170 0.49346 None None None None None None FUT2|0.006958625|83.54%

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 mmg003343 6 rs9269958
dbSNP Clinvar
32552143 2348.77 C T SnpCluster 0/1 123 STOP_GAINED HIGH None 0.69429 0.69430 None None None None None None HLA-DRB1|0.032266025|68.49%
View mmg003343 6 rs11554463
dbSNP Clinvar
32551935 2703.77 G T SnpCluster 0/1 149 STOP_GAINED HIGH None None None None None None None HLA-DRB1|0.032266025|68.49%

HLA-DRB5

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 mmg003343 6 rs41554620
dbSNP Clinvar
32489731 481.77 G C SnpCluster 0/1 248 STOP_GAINED HIGH None None None None None None None HLA-DRB5|0.020830666|73.74%
View mmg003343 6 rs201046358
dbSNP Clinvar
32486438 285.77 G A SnpCluster 0/1 21 STOP_GAINED HIGH None 0.12061 0.12060 None None None None None None HLA-DRB5|0.020830666|73.74%
View mmg003343 6 rs200071340
dbSNP Clinvar
32489937 134.77 G A LowQD;SnpCluster 0/1 150 STOP_GAINED HIGH None 0.25499 0.25500 None None None None None None HLA-DRB5|0.020830666|73.74%
View mmg003343 6 rs71549219
dbSNP Clinvar
32497905 1881.77 G A PASS 0/1 57 STOP_GAINED HIGH None None None None None None None HLA-DRB5|0.020830666|73.74%

IGSF3

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 mmg003343 1 rs139013364
dbSNP Clinvar
117156585 185.77 G A PASS 0/1 38 STOP_GAINED HIGH None None None None None None None IGSF3|0.084306798|54.35%
View mmg003343 1 rs61730489
dbSNP Clinvar
117142868 782.77 C T PASS 0/1 78 STOP_GAINED HIGH None None None None None None None IGSF3|0.084306798|54.35%

KMT2C

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 mmg003343 7 rs58528565
dbSNP Clinvar
151927023 1478.77 G C SnpCluster 0/1 473 STOP_GAINED HIGH None None None None None None None KMT2C|0.088346598|53.58%

KRT37

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 mmg003343 17 rs78158550
dbSNP Clinvar
39579059 92.77 G A PASS 0/1 27 STOP_GAINED HIGH None 0.17213 0.17210 None None None None None None KRT37|0.01861193|74.92%

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 mmg003343 17 rs55796947
dbSNP Clinvar
21204210 620.77 C T PASS 0/1 60 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 mmg003343 11 rs2298553
dbSNP Clinvar
60265002 953.77 C T PASS 0/1 98 STOP_GAINED HIGH None 0.47824 0.47820 0.45241 None None None None None None MS4A12|0.000555931|98.15%

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 mmg003343 7 rs79874934
dbSNP Clinvar
100552738 2344.77 C T PASS 0/1 211 STOP_GAINED HIGH None None None None None None None MUC3A|0.001683398|91.94%

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 mmg003343 17 rs78230791
dbSNP Clinvar
16068343 939.77 G A PASS 0/1 149 STOP_GAINED HIGH None None None None None None None NCOR1|0.942283614|2.42%

NDUFB9

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 mmg003343 8 rs6470252
dbSNP Clinvar
125579990 2610.77 C T PASS 1/1 81 STOP_GAINED HIGH None 0.62460 0.62460 None None None None None None NDUFB9|0.09890784|51.37%,MTSS1|0.361449802|23.34%

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 mmg003343 1 rs863362
dbSNP Clinvar
158549492 1163.77 C T PASS 0/1 114 STOP_GAINED HIGH None 0.50240 0.50240 0.48631 None None None None None None OR10X1|0.012275665|79.05%

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 mmg003343 9 rs1476860
dbSNP Clinvar
125391241 632.77 G A PASS 0/1 69 STOP_GAINED HIGH None 0.33926 0.33930 0.22697 None None None None None None OR1B1|0.014476392|77.51%

OR2J1

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 mmg003343 6 rs2394517
dbSNP Clinvar
29069299 49.77 C T LowQual 0/1 11 STOP_GAINED HIGH None 0.33706 0.33710 None None None None None None OR2J1|0.002737033|89.18%

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 mmg003343 1 rs1778111
dbSNP Clinvar
144915561 1377.77 G A PASS 0/1 100 STOP_GAINED HIGH None None None None None None None PDE4DIP|0.07469644|56.36%
View mmg003343 1 rs2762779
dbSNP Clinvar
145075683 663.77 C T PASS 0/1 63 STOP_GAINED HIGH None None None None None None None PDE4DIP|0.07469644|56.36%

PRAMEF1

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 mmg003343 1 rs79698223
dbSNP Clinvar
12854090 21.8 T A LowQD;LowQual;VeryLowQual 0/1 30 STOP_GAINED HIGH None None None None None None None PRAMEF1|0.000484368|98.53%

PXDNL

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 mmg003343 8 rs117752382
dbSNP Clinvar
52284560 529.77 A T PASS 0/1 39 STOP_GAINED HIGH None 0.01418 0.01418 0.01302 None None None None None None PXDNL|0.005561627|85.15%

RP11-1407O15.2

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 mmg003343 17 . 36353761 6968.77 C T PASS 0/1 904 STOP_GAINED HIGH None 0.19529 None None None None None None TBC1D3|0.001314846|93.78%

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 mmg003343 11 rs1790218
dbSNP Clinvar
63057925 205.77 G A PASS 0/1 28 STOP_GAINED HIGH None 0.43351 0.43350 0.47938 None None None None None None SLC22A10|0.000698114|97.25%

SLC35G6

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 mmg003343 17 rs7214088
dbSNP Clinvar
7386280 286.77 G A PASS 0/1 25 STOP_GAINED HIGH None 0.74641 0.74640 None None None None None None ZBTB4|0.110313063|49.14%,SLC35G6|0.045233957|64.16%

SLC5A9

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 mmg003343 1 rs850763
dbSNP Clinvar
48708228 244.77 G T PASS 0/1 12 STOP_GAINED HIGH None 0.11382 0.11380 0.14809 None None None None None None SLC5A9|0.077112807|55.87%

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 mmg003343 5 rs7447815
dbSNP Clinvar
1240757 1573.77 C G PASS 1/1 56 STOP_GAINED HIGH None 0.00060 0.34860 0.36445 None None None None None None SLC6A18|0.029366379|69.67%

SLC9B1

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 mmg003343 4 rs75599926
dbSNP Clinvar
103832611 344.77 G A LowQD 0/1 250 STOP_GAINED HIGH None None None None None None None SLC9B1|0.003950683|87.1%
View mmg003343 4 rs200075071
dbSNP Clinvar
103826769 931.77 G A HARD_TO_VALIDATE 0/1 245 STOP_GAINED HIGH None None None None None None None SLC9B1|0.003950683|87.1%
View mmg003343 4 rs77618489
dbSNP Clinvar
103826685 225.77 T A LowQD 0/1 319 STOP_GAINED HIGH None None None None None None None SLC9B1|0.003950683|87.1%

SLC9B1P1

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 mmg003343 Y rs75926072
dbSNP Clinvar
13506576 858.77 G A HARD_TO_VALIDATE 0/1 248 STOP_GAINED HIGH None None None None None None None SLC9B1P1|0.002112226|90.7%

SULT1C4

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 mmg003343 2 rs77662685
dbSNP Clinvar
108998301 1584.77 C T PASS 0/1 128 STOP_GAINED HIGH None 0.00359 0.00359 0.00538 None None None None None None SULT1C4|0.013862627|77.97%

TTC4

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 mmg003343 1 rs1147990
dbSNP Clinvar
55182300 676.77 T A PASS 0/1 53 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%

TTN

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 mmg003343 2 . 179597781 1015.77 G T PASS 0/1 91 STOP_GAINED HIGH None None None None None None None TTN|0.331370966|25.39%

ZNF717

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 mmg003343 3 rs79635065
dbSNP Clinvar
75786827 106.77 A T LowCoverage 0/1 7 STOP_GAINED HIGH None None None None None None None ZNF717|0.000754901|96.97%
View mmg003343 3 rs78906544
dbSNP Clinvar
75786916 75.77 C A LowCoverage;SnpCluster 0/1 6 STOP_GAINED HIGH None None None None None None None ZNF717|0.000754901|96.97%

ZNF80

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 mmg003343 3 rs3732781
dbSNP Clinvar
113955187 1457.77 A C PASS 0/1 116 STOP_GAINED HIGH None 0.18550 0.18550 0.20637 None None None None None None ZNF80|0.001570762|92.46%
  • Page 1 of 1