SELECT VARIANTS FROM EXCLUDE VARIANTS FROM
INDIVIDUALS:

SNP LIST:
GROUPS:

SAVED GENE LIST:

GENE LIST:
INDIVIDUALS:

EXCLUDE SNP LIST:
EXCLUDE GROUPS:

EXCLUDE SAVED GENE LIST:

EXCLUDE GENE LIST:
SELECT YOUR DISEASES:
OMIM:
CLINICAL GENOMICS DATABASE:
HGMD:
MUTATION TYPE:
CHR:

POS:
VARIANT EFFECT FUNCTIONAL CLASS IMPACT
DBSNP BUILD:


EXCLUDE VARIANTS AT VARISNP
READ DEPTH:

QUAL:
VARIANTS PER GENE:
SHOW ONLY VARIANTS PRESENT IN COMMON GENES BETWEEN ALL THE INDIVIDUALS SELECTED
SHOW ONLY VARIANTS AT EXACTLY SAME POSITION BETWEEN ALL THE INDIVIDUALS SELECTED
EXCLUDE ALL VARIANTS PRESENT IN LATEST DBSNP BUILD
SHOW ONLY VARIANTS PRESENT AT HGMD

FREQUENCIES

1000 GENOMES FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES
DBSNP FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN DBSNP
ESP6500 FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN EXOME SEQUENCING PROJECT

SCORES

SIFT SCORE

EXCLUDE VARIANTS WITHOUT SIFT SCORE
POLYPHEN2 SCORE

EXCLUDE VARIANTS WITHOUT POLYPHEN SCORE
CADD

EXCLUDE VARIANTS WITHOUT CADD SCORE
MCAP

EXCLUDE VARIANTS WITHOUT M-CAP SCORE
OPEN RESULT IN A NEW WINDOW
RESET FILTER | Save Config | Save Analysis

Genes at Omim

ADCK3, AKT1, ALDH4A1, COMT, CPOX, CYP11B2, HSPA9, KYNU, OAT, PCK1, PNPT1, RTN4IP1, TPH2,
ADCK3 Coenzyme Q10 deficiency, primary, 4, 612016 (3)
AKT1 Breast cancer, somatic, 114480 (3)
Colorectal cancer, somatic, 114500 (3)
Cowden syndrome 6, 615109 (3)
{Schizophrenia, susceptibility to}, 181500 (2)
Ovarian cancer, somatic, 167000 (3)
Proteus syndrome, somatic, 176920 (3)
ALDH4A1 Hyperprolinemia, type II, 239510 (3)
COMT {Panic disorder, susceptibility to}, 167870 (3)
{Schizophrenia, susceptibility to}, 181500 (3)
CPOX Coproporphyria, 121300 (3)
Harderoporphyria, 121300 (3)
CYP11B2 Aldosterone to renin ratio raised (3)
{Low renin hypertension, susceptibility to} (3)
Hypoaldosteronism, congenital, due to CMO I deficiency, 203400 (3)
Hypoaldosteronism, congenital, due to CMO II deficiency, 610600 (3)
HSPA9 Anemia, sideroblastic, 4, 182170 (3)
Even-plus syndrome, 616854 (3)
KYNU Vertebral, cardiac, renal, and limb defects syndrome 2, 617661 (3)
?Hydroxykynureninuria, 236800 (3)
OAT Gyrate atrophy of choroid and retina with or without ornithinemia, 258870 (3)
PCK1 ?Phosphoenolpyruvate carboxykinase deficiency, cytosolic, 261680 (3)
PNPT1 Combined oxidative phosphorylation deficiency 13, 614932 (3)
Deafness, autosomal recessive 70, 614934 (3)
RTN4IP1 Optic atrophy 10 with or without ataxia, mental retardation, and seizures, 616732 (3)
TPH2 {Unipolar depression, susceptibility to}, 608516 (3)
{Attention deficit-hyperactivity disorder, susceptibility to, 7}, 613003 (3)

Genes at Clinical Genomics Database

ADCK3, AKT1, ALDH4A1, COMT, CPOX, CYP11B2, HSPA9, KYNU, OAT, PNPT1, RTN4IP1, TRAP1,
ADCK3 Coenzyme Q10 deficiency
Progressive cerebellar ataxia and atrophy
Spinocerebellar ataxia 9
AKT1 Cowden syndrome 6
Proteus syndrome
ALDH4A1 Hyperprolinemia, type II
COMT Medication response, association with
CPOX Coproporphyria
Harderoporphyria
CYP11B2 Corticosterone methyloxidase type I deficiency
Corticosterone methyloxidase type II deficiency
Glucocorticoid-remediable aldosteronism
HSPA9 Anemia, sideroblastic 4
KYNU Hydroxykynureninuria
OAT Gyrate atrophy of choroid and retina
PNPT1 Deafness, autosomal recessive 70
RTN4IP1 Optic atrophy 10 with or without ataxia, mental retardation, and seizures
TRAP1 Congenital abnormalities of the kidney and urinary tract
VACTERL association

Genes at HGMD

Summary

Number of Variants: 38
Number of Genes: 33

Export to: CSV
  • Page 1 of 1

ACACB

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 gpp10315_20120828021333_nucseek 12 rs11065772
dbSNP Clinvar
109617865 16713.01 T C PASS 1/1 486 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.67732 0.67730 0.25996 None None None None None None ACACB|0.108212697|49.54%

ACLY

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 gpp10315_20120828021333_nucseek 17 rs8065502
dbSNP Clinvar
40048613 32767.01 A G PASS 1/1 2250 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.90435 0.90440 0.12479 None None None None None None ACLY|0.44685425|18.3%

ACSM2A

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 gpp10315_20120828021333_nucseek 16 rs1700805
dbSNP Clinvar
20488696 88.01 A G PASS 0/1 22 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.48482 0.48480 0.35969 None None None None None None ACSM2A|0.005190474|85.6%

ADCK3

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 gpp10315_20120828021333_nucseek 1 rs3738725
dbSNP Clinvar
227174210 32767.01 T C PASS 1/1 2276 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.31390 0.31390 0.44218 None None None None None None ADCK3|0.102470418|50.69%

AKT1

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 gpp10315_20120828021333_nucseek 14 rs139297659
dbSNP Clinvar
105238711 7693.01 G A PASS 0/1 701 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.00899 0.00899 0.00953 None None None None None None AKT1|0.999993361|0.05%

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 gpp10315_20120828021333_nucseek 1 rs2230705
dbSNP Clinvar
19203997 8815.01 C G PASS 0/1 853 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.64157 0.64160 0.28846 None None None None None None ALDH4A1|0.121498662|47.22%
View gpp10315_20120828021333_nucseek 1 rs2230708
dbSNP Clinvar
19201956 5634.01 A G PASS 1/1 139 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.73722 0.73720 0.29779 None None None None None None ALDH4A1|0.121498662|47.22%
View gpp10315_20120828021333_nucseek 1 rs7550938
dbSNP Clinvar
19202917 23428.01 T C PASS 1/1 756 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.66094 0.66090 0.37698 None None None None None None ALDH4A1|0.121498662|47.22%

CLIC4

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 gpp10315_20120828021333_nucseek 1 . 25167420 6777.01 A G PASS 0/1 541 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.28 0.00 None None None None None None CLIC4|0.511630101|15.31%

COMT

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 gpp10315_20120828021333_nucseek 22 rs4818
dbSNP Clinvar
19951207 14883.01 C G PASS 0/1 1321 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.29693 0.29690 0.32754 None None None None None None COMT|0.166055932|40.8%
View gpp10315_20120828021333_nucseek 22 rs4680
dbSNP Clinvar
19951271 8242.01 G A PASS 0/1 797 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.36921 0.36920 0.45148 0.09 0.22 None None None None None None COMT|0.166055932|40.8%
View gpp10315_20120828021333_nucseek 22 rs4633
dbSNP Clinvar
19950235 2159.01 C T PASS 0/1 283 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.37161 0.37160 0.46009 None None None None None None COMT|0.166055932|40.8%

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 gpp10315_20120828021333_nucseek 3 rs1729995
dbSNP Clinvar
98304467 2643.01 T C PASS 0/1 131 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.75399 0.75400 0.25611 None None None None None None CPOX|0.108402411|49.49%

CYP11B2

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 gpp10315_20120828021333_nucseek 8 rs4538
dbSNP Clinvar
143994702 5596.01 G T PASS 0/1 654 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.60763 0.60760 0.46585 None None None None None None GML|0.000127964|99.9%,CYP11B2|0.013075672|78.46%

DHRS4

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 gpp10315_20120828021333_nucseek 14 rs765273457
dbSNP Clinvar
24438063 80.26 A C PASS 1/1 199 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.19 0.74 None None None None None None DHRS4|0.01129792|79.79%

ECHDC3

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 gpp10315_20120828021333_nucseek 10 rs10906011
dbSNP Clinvar
11805357 32767.01 G A PASS 1/1 1778 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.51578 0.51580 0.45548 None None None None None None ECHDC3|0.029496468|69.61%
View gpp10315_20120828021333_nucseek 10 rs7899215
dbSNP Clinvar
11797436 21147.01 T C PASS 1/1 759 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.93131 0.93130 0.06366 None None None None None None ECHDC3|0.029496468|69.61%

FASN

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 gpp10315_20120828021333_nucseek 17 rs2228309
dbSNP Clinvar
80051183 16428.01 A G PASS 1/1 732 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.39177 0.39180 0.45840 None None None None None None FASN|0.307148829|27.07%

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 gpp10315_20120828021333_nucseek 2 rs10194657
dbSNP Clinvar
75115108 14589.01 A G PASS 0/1 1674 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.52416 0.52420 0.42842 None None None None None None HK2|0.435064932|18.94%

HSPA9

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 gpp10315_20120828021333_nucseek 5 rs1042665
dbSNP Clinvar
137902339 9528.01 T C PASS 0/1 852 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.41993 0.41990 0.25350 None None None None None None HSPA9|0.978462379|1.51%

IDE

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 gpp10315_20120828021333_nucseek 10 rs35426658
dbSNP Clinvar
94246992 5586.01 C A PASS 0/1 400 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.02117 0.02117 0.01346 None None None None None None IDE|0.983146007|1.37%

KYNU

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 gpp10315_20120828021333_nucseek 2 rs9013
dbSNP Clinvar
143798189 16681.01 A G PASS 0/1 1471 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.17572 0.17570 0.16108 0.38 0.00 None None None None None None KYNU|0.158092814|41.86%

NLRX1

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 gpp10315_20120828021333_nucseek 11 rs4245191
dbSNP Clinvar
119052826 7512.01 C A PASS 0/1 714 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.68830 0.68830 0.42664 1.00 0.84 None None None None None None NLRX1|0.100054639|51.16%

NME3

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 gpp10315_20120828021333_nucseek 16 rs11890
dbSNP Clinvar
1820992 18061.01 T A PASS 1/1 671 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.76358 0.76360 0.16050 None None None None None None NME3|0.015536375|76.78%

OAT

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 gpp10315_20120828021333_nucseek 10 rs11461
dbSNP Clinvar
126089434 8278.01 G A PASS 1/1 370 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.40994 0.40990 0.31526 None None None None None None OAT|0.248692734|31.64%

PARP1

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 gpp10315_20120828021333_nucseek 1 rs1805404
dbSNP Clinvar
226589958 7751.01 G A PASS 0/1 832 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.21825 0.21830 0.14770 None None None None None None PARP1|0.909670584|3.25%

PCK1

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 gpp10315_20120828021333_nucseek 20 rs1062600
dbSNP Clinvar
56137798 32767.01 G A PASS 1/1 1622 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.29513 0.29510 0.41273 None None None None None None PCK1|0.222187603|34.18%

PDK2

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 gpp10315_20120828021333_nucseek 17 rs9839
dbSNP Clinvar
48174908 9302.01 C T PASS 0/1 714 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.43510 0.43510 0.35553 None None None None None None PDK2|0.36750575|22.9%

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 gpp10315_20120828021333_nucseek 2 rs2627765
dbSNP Clinvar
55883317 5767.01 G T PASS 0/1 534 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.35663 0.35660 0.48677 None None None None None None PNPT1|0.558873|13.4%

POLRMT

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 gpp10315_20120828021333_nucseek 19 . 621205 1168.01 G A PASS 0/1 130 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None None None None None None None None

PTGR2

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 gpp10315_20120828021333_nucseek 14 rs11159042
dbSNP Clinvar
74340797 8303.01 A T PASS 1/1 225 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.50499 0.50500 0.47232 None None None None None None PTGR2|0.202949681|36.39%

RTN4IP1

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 gpp10315_20120828021333_nucseek 6 rs9486410
dbSNP Clinvar
107019880 2882.01 A G PASS 0/1 197 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.18550 0.18550 0.16985 None None None None None None RTN4IP1|0.197541433|36.99%

SIRT5

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 gpp10315_20120828021333_nucseek 6 rs3757261
dbSNP Clinvar
13599303 15476.01 C T PASS 0/1 1504 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.17173 0.17170 0.17753 None None None None None None SIRT5|0.137206779|44.83%

SND1

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 gpp10315_20120828021333_nucseek 7 rs322825
dbSNP Clinvar
127721507 17306.01 T C PASS 0/1 1758 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.67252 0.67250 0.24927 None None None None None None SND1|0.892258294|3.61%

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 gpp10315_20120828021333_nucseek 1 rs6587625
dbSNP Clinvar
151820324 21240.01 T C PASS 0/1 2165 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.77796 0.77800 0.17454 1.00 0.00 None None None None None None THEM5|0.019802757|74.29%

TPH2

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 gpp10315_20120828021333_nucseek 12 rs4290270
dbSNP Clinvar
72416235 13975.01 A T PASS 1/1 555 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.48722 0.48720 0.43380 None None None None None None TPH2|0.532472095|14.47%

TRAP1

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 gpp10315_20120828021333_nucseek 16 rs1136948
dbSNP Clinvar
3721773 10174.01 G C PASS 0/1 957 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.10823 0.10820 0.13422 0.00 1.00 None None None None None None DNASE1|0.039855019|65.82%,TRAP1|0.168599632|40.51%

ZADH2

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 gpp10315_20120828021333_nucseek 18 rs7230037
dbSNP Clinvar
72914280 15867.01 G A PASS 1/1 705 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.29752 0.29750 0.31324 None None None None None None ZADH2|0.048701757|63.04%
  • Page 1 of 1