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Genes at Omim

ACVR1, ADCY10, ALDH4A1, BARD1, CAD, CHI3L1, CPOX, EPHA2, HAAO, IDH1, NCF2, NEK2, NTRK1, PADI4, PCSK9, PNPT1, PPARG, PPT1, XDH,
ACVR1 Fibrodysplasia ossificans progressiva, 135100 (3)
ADCY10 {Hypercalciuria, absorptive, susceptibility to}, 143870 (3)
ALDH4A1 Hyperprolinemia, type II, 239510 (3)
BARD1 {Breast cancer, susceptibility to}, 114480 (3)
CAD Epileptic encephalopathy, early infantile, 50, 616457 (3)
CHI3L1 {Schizophrenia, susceptibility to}, 181500 (3)
{Asthma-related traits, susceptibility to, 7}, 611960 (3)
CPOX Coproporphyria, 121300 (3)
Harderoporphyria, 121300 (3)
EPHA2 Cataract 6, multiple types, 116600 (3)
HAAO Vertebral, cardiac, renal, and limb defects syndrome 1, 617660 (3)
IDH1 {Glioma, susceptibility to, somatic}, 137800 (3)
NCF2 Chronic granulomatous disease due to deficiency of NCF-2, 233710 (3)
NEK2 ?Retinitis pigmentosa 67, 615565 (3)
NTRK1 Insensitivity to pain, congenital, with anhidrosis, 256800 (3)
Medullary thyroid carcinoma, familial, 155240 (3)
PADI4 {Rheumatoid arthritis, susceptibility to}, 180300 (3)
PCSK9 {Low density lipoprotein cholesterol level QTL 1}, 603776 (3)
Hypercholesterolemia, familial, 3, 603776 (3)
PNPT1 Combined oxidative phosphorylation deficiency 13, 614932 (3)
Deafness, autosomal recessive 70, 614934 (3)
PPARG {Diabetes, type 2}, 125853 (3)
Carotid intimal medial thickness 1, 609338 (3)
Insulin resistance, severe, digenic, 604367 (3)
Lipodystrophy, familial partial, type 3, 604367 (3)
Obesity, severe, 601665 (3)
[Obesity, resistance to] (3)
PPT1 Ceroid lipofuscinosis, neuronal, 1, 256730 (3)
XDH Xanthinuria, type I, 278300 (3)

Genes at Clinical Genomics Database

ACVR1, ALDH4A1, BARD1, CAD, CPOX, EPHA2, NCF2, NEK2, NTRK1, PCSK9, PNPT1, PPARG, PPT1, XDH,
ACVR1 Fibrodysplasia ossificans progressiva
ALDH4A1 Hyperprolinemia, type II
BARD1 Breast cancer, susceptibility to
CAD Congenital disorder of glycosylation, type Iz
CPOX Coproporphyria
Harderoporphyria
EPHA2 Cataract 6, multiple types
NCF2 Chronic granulomatous disease, autosomal recessive, cytochrome b-positive, type II
NEK2 Retinitis pigmentosa 67
NTRK1 Insensitivity to pain, congenital, with anhidrosis
PCSK9 Hypercholesterolemia, familial, 3
PNPT1 Deafness, autosomal recessive 70
PPARG Lipodystrophy, familial, partial, type 3
Insulin resistance, severe, digenic
PPT1 Ceroid lipofuscinosis, neuronal, 1
XDH Xanthinuria, type I

Genes at HGMD

Summary

Number of Variants: 50
Number of Genes: 40

Export to: CSV
  • Page 1 of 1

ACTR8

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 wt108005 snp 3 rs4687757
dbSNP Clinvar
53906513 2597.03 G A PASS 1/1 90 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.69030 0.69030 0.48293 None None None None None None ACTR8|0.331819735|25.35%

ACVR1

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 wt108005 snp 2 rs1146031
dbSNP Clinvar
158626980 1995.03 C T PASS 1/1 75 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.91394 0.91390 0.08850 None None None None None None ACVR1|0.908763541|3.27%

ADCY10

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 wt108005 snp 1 rs203849
dbSNP Clinvar
167849414 748.6 A G PASS 0/1 56 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.49321 0.49320 0.46570 None None None None None None ADCY10|0.02878338|70.03%

ALDH4A1

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 wt108005 snp 1 rs7550938
dbSNP Clinvar
19202917 2415.6 T C PASS 0/1 160 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.66094 0.66090 0.37698 None None None None None None ALDH4A1|0.121498662|47.22%
View wt108005 snp 1 rs2230708
dbSNP Clinvar
19201956 1608.6 A G PASS 0/1 157 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.73722 0.73720 0.29779 None None None None None None ALDH4A1|0.121498662|47.22%

BARD1

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 wt108005 snp 2 rs2070093
dbSNP Clinvar
215632256 2457.03 A G PASS 1/1 83 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.77057 0.77060 0.28618 None None None None None None BARD1|0.230178617|33.35%

CAD

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 wt108005 snp 2 rs3739092
dbSNP Clinvar
27462076 1611.6 C T PASS 0/1 131 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.26558 0.26560 0.23405 None None None None None None CAD|0.237806166|32.61%
View wt108005 snp 2 rs1141313
dbSNP Clinvar
27460968 921.6 A G PASS 0/1 108 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.45467 0.45470 0.44987 None None None None None None CAD|0.237806166|32.61%

CBLB

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 wt108005 snp 3 rs2305035
dbSNP Clinvar
105439026 1028.6 G A PASS 0/1 79 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.21006 0.21010 0.20429 None None None None None None CBLB|0.559095691|13.39%

CHI3L1

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 wt108005 snp 1 rs4950927
dbSNP Clinvar
203148633 2742.03 A G PASS 1/1 95 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.99960 0.99960 0.00185 None None None None None None CHI3L1|0.048433283|63.15%

CHI3L2

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 wt108005 snp 1 rs2494007
dbSNP Clinvar
111783996 1447.03 A G PASS 1/1 53 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.99940 0.99940 0.00062 None None None None None None CHI3L2|0.012602272|78.81%

CHIA

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 wt108005 snp 1 rs2275253
dbSNP Clinvar
111861841 3568.03 A G PASS 1/1 114 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.65915 0.65910 0.27764 0.99 0.00 None None None None None None CHIA|0.03435619|67.66%

CPOX

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 wt108005 snp 3 rs1729995
dbSNP Clinvar
98304467 1991.03 T C PASS 1/1 63 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.75399 0.75400 0.25611 None None None None None None CPOX|0.108402411|49.49%

DUSP12

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 wt108005 snp 1 rs1063178
dbSNP Clinvar
161721707 980.6 C T PASS 0/1 63 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.36002 0.36000 0.35399 None None None None None None DUSP12|0.090238655|53.19%

EPHA2

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 wt108005 snp 1 rs2230597
dbSNP Clinvar
16464673 5110.03 G A PASS 1/1 164 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.34944 0.34940 0.38879 None None None None None None EPHA2|0.768915771|6.62%

GALM

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 wt108005 snp 2 rs6741892
dbSNP Clinvar
38916970 521.6 A T PASS 0/1 40 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.18351 0.18350 0.13148 0.93 0.00 None None None None None None GALM|0.264774088|30.32%

HAAO

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 wt108005 snp 2 rs3816183
dbSNP Clinvar
43015719 1196.03 T C PASS 1/1 46 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.85963 0.85960 0.20637 1.00 0.00 None None None None None None HAAO|0.143962065|43.87%

HK2

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 wt108005 snp 2 rs10194657
dbSNP Clinvar
75115108 1375.6 A G PASS 0/1 90 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.52416 0.52420 0.42842 None None None None None None HK2|0.435064932|18.94%

HSPA6

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 wt108005 snp 1 rs1079109
dbSNP Clinvar
161495040 3778.03 C T PASS 1/1 129 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.12420 0.12420 0.08957 0.00 1.00 None None None None None None HSPA6|0.031348421|68.86%

IDH1

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 wt108005 snp 2 rs34218846
dbSNP Clinvar
209108317 709.6 C T PASS 0/1 51 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.04932 0.04932 0.06251 0.11 0.98 None None None None None None IDH1|0.731476826|7.62%
View wt108005 snp 2 rs11554137
dbSNP Clinvar
209113192 777.6 G A PASS 0/1 75 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.05691 0.05691 0.07104 None None None None None None IDH1|0.731476826|7.62%

IL22RA1

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 wt108005 snp 1 rs10903022
dbSNP Clinvar
24465113 2291.03 C T PASS 1/1 83 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.47065 0.47060 0.34430 None None None None None None IL22RA1|0.007247763|83.26%

JAK1

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 wt108005 snp 1 rs2230588
dbSNP Clinvar
65310489 1064.6 T C PASS 0/1 117 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.37260 0.37260 0.34920 None None None None None None JAK1|0.528307667|14.64%

LGALS8

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 wt108005 snp 1 rs1126407
dbSNP Clinvar
236700807 1338.03 T A PASS 1/1 46 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.49980 0.49980 0.38159 1.00 0.01 None None None None None None LGALS8|0.03333972|68.01%
View wt108005 snp 1 rs1041935
dbSNP Clinvar
236700857 1500.03 C T PASS 1/1 49 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.50000 0.50000 0.38167 0.00 0.01 None None None None None None LGALS8|0.03333972|68.01%

MINA

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 wt108005 snp 3 rs832079
dbSNP Clinvar
97673268 2163.03 A C PASS 1/1 77 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.99301 0.99300 0.00192 None None None None None None MINA|0.716968741|8.06%

NCF2

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 wt108005 snp 1 rs2274064
dbSNP Clinvar
183542387 917.6 T C PASS 0/1 95 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.49161 0.49160 0.43003 0.81 0.00 None None None None None None SMG7|0.512183924|15.29%,NCF2|0.147913497|43.31%

NEK2

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 wt108005 snp 1 rs701929
dbSNP Clinvar
211846876 3219.03 A G PASS 1/1 106 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.60304 0.60300 0.49854 None None None None None None NEK2|0.323638729|25.91%

NEU2

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 wt108005 snp 2 rs2233394
dbSNP Clinvar
233899377 4269.03 C T PASS 1/1 136 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.18770 0.18770 0.15528 None None None None None None NEU2|0.005389797|85.32%
View wt108005 snp 2 rs2233384
dbSNP Clinvar
233897414 2765.03 C A PASS 1/1 96 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.04752 0.04752 0.01676 0.63 0.00 None None None None None None NEU2|0.005389797|85.32%

NTRK1

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 wt108005 snp 1 rs6334
dbSNP Clinvar
156846233 1265.6 G A PASS 0/1 120 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.21286 0.21290 0.19360 None None None None None None NTRK1|0.341411283|24.74%

PADI2

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 wt108005 snp 1 rs3818032
dbSNP Clinvar
17402255 816.6 C T PASS 0/1 73 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.52596 0.52600 0.38490 None None None None None None PADI2|0.185823973|38.27%

PADI4

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 wt108005 snp 1 rs2240335
dbSNP Clinvar
17674537 1401.03 C A PASS 1/1 52 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.42133 0.42130 0.35837 None None None None None None PADI4|0.011425361|79.64%
View wt108005 snp 1 rs874881
dbSNP Clinvar
17660499 1217.03 G C PASS 1/1 42 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.52197 0.52200 0.47094 0.45 0.19 None None None None None None PADI4|0.011425361|79.64%

PCSK9

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 wt108005 snp 1 rs540796
dbSNP Clinvar
55524197 5647.03 A G PASS 1/1 186 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.86921 0.86920 0.18222 None None None None None None PCSK9|0.022266519|73.06%

PNPT1

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 wt108005 snp 2 rs2627765
dbSNP Clinvar
55883317 2087.03 G T PASS 1/1 67 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.35663 0.35660 0.48677 None None None None None None PNPT1|0.558873|13.4%

PPARG

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 wt108005 snp 3 rs3856806
dbSNP Clinvar
12475557 1495.6 C T PASS 0/1 143 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.12660 0.12660 0.10664 None None None None None None PPARG|0.999715311|0.28%

PPT1

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 wt108005 snp 1 rs1800205
dbSNP Clinvar
40557033 1105.6 A G PASS 0/1 81 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.07388 0.07388 0.03491 0.37 0.04 None None None None None None PPT1|0.381012222|21.97%

PRMT6

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 wt108005 snp 1 rs2232016
dbSNP Clinvar
107599918 1915.6 C T PASS 0/1 175 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.12520 0.12520 0.15494 0.01 0.30 None None None None None None PRMT6|0.233305779|33.07%

RBBP4

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 wt108005 snp 1 rs2762904
dbSNP Clinvar
33133968 2292.03 T C PASS 1/1 77 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.96785 0.96790 0.03014 None None None None None None RBBP4|0.867298197|4.31%

STK17B

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 wt108005 snp 2 rs10931726
dbSNP Clinvar
197021276 1377.6 T C PASS 0/1 110 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.47025 0.47020 0.45187 None None None None None None STK17B|0.190903367|37.72%

SULT1C3

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 wt108005 snp 2 rs2219078
dbSNP Clinvar
108875198 1581.03 G A PASS 1/1 58 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.34984 0.34980 0.22720 0.00 1.00 None None None None None None SULT1C3|0.000995386|95.48%

THEM5

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 wt108005 snp 1 rs6587625
dbSNP Clinvar
151820324 4760.03 T C PASS 1/1 162 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.77796 0.77800 0.17454 1.00 0.00 None None None None None None THEM5|0.019802757|74.29%
View wt108005 snp 1 rs370580520
dbSNP Clinvar
151820701 1044.6 C T PASS 0/1 83 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.00040 0.00040 0.01 0.99 None None None None None None THEM5|0.019802757|74.29%

TNFAIP6

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 wt108005 snp 2 rs1046668
dbSNP Clinvar
152226570 978.6 A G PASS 0/1 83 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.17712 0.17710 0.19137 0.87 0.00 None None None None None None TNFAIP6|0.338115785|24.96%
View wt108005 snp 2 rs75295519
dbSNP Clinvar
152235888 936.6 G A PASS 0/1 75 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.01997 0.01997 0.00131 0.01 0.97 None None None None None None TNFAIP6|0.338115785|24.96%

XDH

Omim - GeneCards - NCBI
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RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View wt108005 snp 2 rs192453952
dbSNP Clinvar
31604589 1410.6 C T PASS 0/1 98 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.00080 0.00080 0.63 0.00 None None None None None None XDH|0.142298525|44.11%

XYLB

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 wt108005 snp 3 rs818850
dbSNP Clinvar
38401839 1726.03 T C PASS 1/1 68 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.96326 0.96330 0.03560 None None None None None None XYLB|0.051125156|62.31%
View wt108005 snp 3 rs843890
dbSNP Clinvar
38408361 1714.03 G A PASS 1/1 59 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.89776 0.89780 0.11802 None None None None None None XYLB|0.051125156|62.31%
View wt108005 snp 3 rs704943
dbSNP Clinvar
38406773 2422.03 G T PASS 1/1 88 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.89657 0.89660 0.12171 None None None None None None XYLB|0.051125156|62.31%
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