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Genes at Omim

AKAP9, APC, ARID1A, ATM, BLNK, BRIP1, ERCC5, FLI1, GATA2, IL7R, ITGB2, JAK2, KAT6B, NF1, NFKB2, NIN, PTCH1, SMC1A, SYNE1, TSHR, WT1,
AKAP9 ?Long QT syndrome-11, 611820 (3)
APC Adenoma, periampullary, somatic (3)
Adenomatous polyposis coli, 175100 (3)
Gardner syndrome, 175100 (3)
Gastric cancer, somatic, 613659 (3)
Brain tumor-polyposis syndrome 2, 175100 (3)
Hepatoblastoma, somatic, 114550 (3)
Colorectal cancer, somatic, 114500 (3)
Desmoid disease, hereditary, 135290 (3)
ARID1A Coffin-Siris syndrome 2, 614607 (3)
ATM Ataxia-telangiectasia, 208900 (3)
Lymphoma, B-cell non-Hodgkin, somatic (3)
Lymphoma, mantle cell, somatic (3)
T-cell prolymphocytic leukemia, somatic (3)
{Breast cancer, susceptibility to}, 114480 (3)
BLNK ?Agammaglobulinemia 4, 613502 (3)
BRIP1 Fanconi anemia, complementation group J, 609054 (3)
{Breast cancer, early-onset, susceptibility to}, 114480 (3)
ERCC5 Cerebrooculofacioskeletal syndrome 3, 616570 (3)
Xeroderma pigmentosum, group G, 278780 (3)
Xeroderma pigmentosum, group G/Cockayne syndrome, 278780 (3)
FLI1 Bleeding disorder, platelet-type, 21, 617443 (3)
GATA2 {Leukemia, acute myeloid, susceptibility to}, 601626 (3)
{Myelodysplastic syndrome, susceptibility to}, 614286 (3)
Immunodeficiency 21, 614172 (3)
Emberger syndrome, 614038 (3)
IL7R Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type, 608971 (3)
ITGB2 Leukocyte adhesion deficiency, 116920 (3)
JAK2 Leukemia, acute myeloid, somatic, 601626 (3)
Erythrocytosis, somatic, 133100 (3)
Myelofibrosis, somatic, 254450 (3)
Polycythemia vera, somatic, 263300 (3)
Thrombocythemia 3, 614521 (3)
{Budd-Chiari syndrome, somatic}, 600880 (3)
KAT6B Genitopatellar syndrome, 606170 (3)
SBBYSS syndrome, 603736 (3)
NF1 Leukemia, juvenile myelomonocytic, 607785 (3)
Neurofibromatosis, familial spinal, 162210 (3)
Neurofibromatosis, type 1, 162200 (3)
Neurofibromatosis-Noonan syndrome, 601321 (3)
Watson syndrome, 193520 (3)
NFKB2 Immunodeficiency, common variable, 10, 615577 (3)
NIN ?Seckel syndrome 7, 614851 (3)
PTCH1 Basal cell carcinoma, somatic, 605462 (3)
Basal cell nevus syndrome, 109400 (3)
Holoprosencephaly 7, 610828 (3)
SMC1A Cornelia de Lange syndrome 2, 300590 (3)
SYNE1 Emery-Dreifuss muscular dystrophy 4, autosomal dominant, 612998 (3)
Spinocerebellar ataxia, autosomal recessive 8, 610743 (3)
TSHR Hyperthyroidism, familial gestational, 603373 (3)
Hyperthyroidism, nonautoimmune, 609152 (3)
Hypothyroidism, congenital, nongoitrous, 1 275200 (3)
Thyroid adenoma, hyperfunctioning, somatic (3)
Thyroid carcinoma with thyrotoxicosis (3)
WT1 Frasier syndrome, 136680 (3)
Denys-Drash syndrome, 194080 (3)
Meacham syndrome, 608978 (3)
Mesothelioma, somatic, 156240 (3)
Nephrotic syndrome, type 4, 256370 (3)
Wilms tumor, type 1, 194070 (3)

Genes at Clinical Genomics Database

AKAP9, APC, ARID1A, ATM, BLNK, BRIP1, ERCC5, FLI1, GATA2, IL7R, ITGB2, JAK2, KAT6B, NF1, NFKB2, NIN, PTCH1, SMC1A, SYNE1, TSHR, WT1,
AKAP9 Long QT syndrome 11
APC Familial adenomatous polyposis
Gardner syndrome
Desmoid disease, hereditary
ARID1A Mental retardation, autosomal dominant 14
Coffin-Siris syndrome 2
ATM Breast cancer, susceptibility to
Ataxia-Telangiectasia
BLNK Agammaglobulinemia 4
BRIP1 Breast cancer
Fanconi anemia, complementation group J
ERCC5 Xeroderma pigmentosum, group G
Xeroderma pigmentosum, group G/Cockayne syndrome
FLI1 Thrombocytopenia, Paris-Trousseau type
GATA2 Immunodeficiency 21
Emberger syndrome
Myelodysplastic syndrome
Acute myeloid leukemia, familial
Chronic neutropenia associated with monocytopenia, evolving to myelodysplasia and acute myeloid leukemia
IL7R Severe combined immunodeficiency, autosomal recessive, T-cell negative, B-cell positive, NK cell positive
ITGB2 Leukocyte adhesion deficiency, type I
JAK2 Thrombocythemia 3
KAT6B Ohdo syndrome, SBBYS variant
Genitopatellar syndrome
NF1 Neurofibromatosis type 1, Neurofibromatosis-Noonan syndrome
Watson syndrome
NFKB2 Immunodeficiency, common variable, 10
NIN Seckel syndrome 7
PTCH1 Basal cell nevus syndrome
SMC1A Cornelia de Lange syndrome 2
SYNE1 Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Spinocerebellar ataxia, autosomal recessive 8
TSHR Hyperthyroidism, familial, gestational
Hyperthyroidism, nonautoimmune
Hypothyroidism, congenital, nongoitrous, 1
WT1 Denys-Drash syndrome
Wilms tumor, type 1
Frasier syndrome

Genes at HGMD

Summary

Number of Variants: 39
Number of Genes: 37

Export to: CSV
  • Page 1 of 1

ACVR2A

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 aml-1726_v1_non-filtered_2017-02-26_03_51_07 2 . 148657116 2778.54 C CA PASS 1/1 625 FRAME_SHIFT HIGH None None None None None None None ACVR2A|0.954874219|2.08%

AKAP9

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 aml-1726_v1_non-filtered_2017-02-26_03_51_07 7 . 91714910 100.0 A AT PASS 1/1 484 FRAME_SHIFT HIGH None None None None None None None AKAP9|0.267262044|30.07%

APC

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 aml-1726_v1_non-filtered_2017-02-26_03_51_07 5 . 112175769 100.0 CGG C,... PASS 0/2 771 FRAME_SHIFT HIGH None None None None None None None APC|0.952088564|2.19%

ARID1A

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 aml-1726_v1_non-filtered_2017-02-26_03_51_07 1 . 27100175 10.4704 AC... AC... PASS 0/2 179 FRAME_SHIFT HIGH None None None None None None None ARID1A|0.661736896|9.63%

ARID4B

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 aml-1726_v1_non-filtered_2017-02-26_03_51_07 1 . 235345770 36.1395 GT... GT... PASS 0/1 237 FRAME_SHIFT HIGH None None None None None None None ARID4B|0.332554915|25.29%

ATM

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 aml-1726_v1_non-filtered_2017-02-26_03_51_07 11 . 108175461 100.0 AG A PASS 0/1 879 FRAME_SHIFT HIGH None None None None None None None ATM|0.992666029|0.97%

BLNK

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 aml-1726_v1_non-filtered_2017-02-26_03_51_07 10 . 97990582 100.0 CAG CA,CG PASS 1/2 433 FRAME_SHIFT HIGH None None None None None None None BLNK|0.20887815|35.7%

BRIP1

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 aml-1726_v1_non-filtered_2017-02-26_03_51_07 17 . 59763464 100.0 A AC PASS 1/1 455 FRAME_SHIFT HIGH None None None None None None None BRIP1|0.463785702|17.47%

CDH5

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 aml-1726_v1_non-filtered_2017-02-26_03_51_07 16 . 66430008 100.0 AC... AA... PASS 5/5 409 FRAME_SHIFT HIGH None None None None None None None CDH5|0.237647552|32.63%

DAXX

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 aml-1726_v1_non-filtered_2017-02-26_03_51_07 6 . 33287897 1232.83 TT... TT... PASS 0/1 410 FRAME_SHIFT HIGH None None None None None None None DAXX|0.484012387|16.54%

ERCC5

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 aml-1726_v1_non-filtered_2017-02-26_03_51_07 13 . 103527848 100.0 A AC,C PASS 1/1 490 FRAME_SHIFT HIGH None None None None None None None ERCC5|0.093186458|52.57%
View aml-1726_v1_non-filtered_2017-02-26_03_51_07 13 . 103527929 100.0 A AC PASS 1/1 540 FRAME_SHIFT HIGH None None None None None None None ERCC5|0.093186458|52.57%

FLI1

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 aml-1726_v1_non-filtered_2017-02-26_03_51_07 11 . 128675291 1244.39 C CA PASS 0/1 377 FRAME_SHIFT HIGH None None None None None None None FLI1|0.788198741|6.16%

GAS7

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 aml-1726_v1_non-filtered_2017-02-26_03_51_07 17 . 9862556 13.5855 G GT PASS 0/1 427 FRAME_SHIFT HIGH None None None None None None None GAS7|0.509169176|15.42%

GATA2

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 aml-1726_v1_non-filtered_2017-02-26_03_51_07 3 . 128202752 1424.77 T TA PASS 0/1 265 FRAME_SHIFT HIGH None None None None None None None GATA2|0.980157483|1.46%

HDAC2

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 aml-1726_v1_non-filtered_2017-02-26_03_51_07 6 rs777539281
dbSNP Clinvar
114292109 100.0 CCTG C,... PASS 0/2 891 FRAME_SHIFT HIGH None None None None None None None HDAC2|0.998000079|0.56%

HDAC3

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 aml-1726_v1_non-filtered_2017-02-26_03_51_07 5 . 141014493 100.0 G GC PASS 1/1 319 FRAME_SHIFT HIGH None None None None None None None HDAC3|0.986202861|1.22%

HSP90AA1

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 aml-1726_v1_non-filtered_2017-02-26_03_51_07 14 . 102550241 15.6621 CA... CA... PASS 0/4 1312 FRAME_SHIFT HIGH None None None None None None None HSP90AA1|0.855021046|4.54%
View aml-1726_v1_non-filtered_2017-02-26_03_51_07 14 . 102568295 2073.17 C CA PASS 1/1 186 FRAME_SHIFT HIGH None None None None None None None HSP90AA1|0.855021046|4.54%

IL7R

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 aml-1726_v1_non-filtered_2017-02-26_03_51_07 5 . 35876448 119.653 A AC,AT PASS 0/2 679 FRAME_SHIFT HIGH None None None None None None None IL7R|0.087449904|53.72%

ITGB2

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 aml-1726_v1_non-filtered_2017-02-26_03_51_07 21 . 46314906 3089.38 G GA PASS 1/1 308 FRAME_SHIFT HIGH None None None None None None None ITGB2|0.063174571|59.06%

JAK2

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 aml-1726_v1_non-filtered_2017-02-26_03_51_07 9 . 5081775 833.127 GCCCT GC... PASS 0/2 611 FRAME_SHIFT HIGH None None None None None None None None

KAT6B

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 aml-1726_v1_non-filtered_2017-02-26_03_51_07 10 . 76781905 2421.99 GG... AG... PASS 0/3 543 FRAME_SHIFT HIGH None None None None None None None KAT6B|0.719816483|7.97%

MAGI1

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 aml-1726_v1_non-filtered_2017-02-26_03_51_07 3 . 65425560 737.465 TC... TC... PASS 0/5 268 FRAME_SHIFT HIGH None None None None None None None MAGI1|0.767705528|6.67%

MBD1

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 aml-1726_v1_non-filtered_2017-02-26_03_51_07 18 . 47800178 1938.52 G GC PASS 0/1 427 FRAME_SHIFT HIGH None None None None None None None MBD1|0.061704646|59.4%

NF1

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 aml-1726_v1_non-filtered_2017-02-26_03_51_07 17 . 29553477 100.0 AC... AC... PASS 3/3 823 FRAME_SHIFT HIGH None None None None None None None NF1|0.993936903|0.88%

NFKB2

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 aml-1726_v1_non-filtered_2017-02-26_03_51_07 10 rs775012625
dbSNP Clinvar
104159412 15.6462 ACG AC... PASS 0/2 219 FRAME_SHIFT HIGH None None None None None None None NFKB2|0.301381383|27.56%

NIN

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 aml-1726_v1_non-filtered_2017-02-26_03_51_07 14 . 51223788 100.0 C CT PASS 1/1 465 FRAME_SHIFT HIGH None None None None None None None NIN|0.676820939|9.17%

NOTCH4

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 aml-1726_v1_non-filtered_2017-02-26_03_51_07 6 . 32191658 2165.19 TA... TA... PASS 0/1 193 FRAME_SHIFT HIGH None None None None None None None NOTCH4|0.816387806|5.41%

PIK3C2B

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 aml-1726_v1_non-filtered_2017-02-26_03_51_07 1 . 204419057 144.499 TC... TC... PASS 0/3 595 FRAME_SHIFT HIGH None None None None None None None PIK3C2B|0.232958023|33.09%

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 aml-1726_v1_non-filtered_2017-02-26_03_51_07 16 . 81190610 100.0 T TG PASS 1/1 892 FRAME_SHIFT HIGH None None None None None None None PKD1L2|0.005531409|85.17%

PTCH1

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 aml-1726_v1_non-filtered_2017-02-26_03_51_07 9 . 98231104 3050.23 AG... AG... PASS 0/1 464 FRAME_SHIFT HIGH None None None None None None None PTCH1|0.998599634|0.48%

SMC1A

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 aml-1726_v1_non-filtered_2017-02-26_03_51_07 X . 53442068 22.5347 TGGT TG... PASS 0/2 136 FRAME_SHIFT HIGH None None None None None None None SMC1A|0.539151883|14.23%

STK33

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 aml-1726_v1_non-filtered_2017-02-26_03_51_07 11 . 8486309 967.715 T TA PASS 1/1 174 FRAME_SHIFT HIGH None None None None None None None STK33|0.074109929|56.51%

STK36

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 aml-1726_v1_non-filtered_2017-02-26_03_51_07 2 . 219562674 100.0 G GA PASS 1/1 771 FRAME_SHIFT HIGH None None None None None None None STK36|0.159611866|41.62%

SYNE1

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 aml-1726_v1_non-filtered_2017-02-26_03_51_07 6 . 152658140 100.0 G GC PASS 1/1 505 FRAME_SHIFT HIGH None None None None None None None SYNE1|0.298400892|27.77%

THBS1

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 aml-1726_v1_non-filtered_2017-02-26_03_51_07 15 . 39884881 270.954 A AT PASS 0/1 351 FRAME_SHIFT HIGH None None None None None None None THBS1|0.94256296|2.4%

TSHR

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 aml-1726_v1_non-filtered_2017-02-26_03_51_07 14 . 81422177 100.0 G GA,GC PASS 1/2 292 FRAME_SHIFT HIGH None None None None None None None CEP128|0.262274825|30.55%,TSHR|0.679607418|9.1%

WT1

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 aml-1726_v1_non-filtered_2017-02-26_03_51_07 11 rs16754
dbSNP Clinvar
32417945 100.0 T C,TC PASS 0/1 1015 FRAME_SHIFT HIGH None 0.33147 0.33150 0.13029 None None None None None None WT1|0.990004297|1.09%
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