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

CD207, CREB3L1, CYFIP2, KMT2B, NPRL3, OPLAH, PRKDC, RECQL4, SLC46A1,
CD207 [?Birbeck granule deficiency], 613393 (3)
CREB3L1 Osteogenesis imperfecta, type XVI, 616229 (3)
CYFIP2 Epileptic encephalopathy, early infantile, 65, 618008 (3)
KMT2B Dystonia 28, childhood-onset, 617284 (3)
NPRL3 Epilepsy, familial focal, with variable foci 3, 617118 (3)
OPLAH 5-oxoprolinase deficiency, 260005 (3)
PRKDC Immunodeficiency 26, with or without neurologic abnormalities, 615966 (3)
RECQL4 Baller-Gerold syndrome, 218600 (3)
RAPADILINO syndrome, 266280 (3)
Rothmund-Thomson syndrome, 268400 (3)
SLC46A1 Folate malabsorption, hereditary, 229050 (3)

Genes at Clinical Genomics Database

CD207, CREB3L1, OPLAH, PRKDC, RECQL4, SLC46A1,
CD207 Birbeck granule deficiency
CREB3L1 Osteogenesis imperfecta, type XVI
OPLAH 5-oxoprolinase deficiency
PRKDC Immunodeficiency 26 with or without neurologic abnormalities
RECQL4 Baller-Gerold syndrome
RAPADILINO syndrome
Rothmund-Thomson syndrome
SLC46A1 Folate malabsorption, hereditary

Genes at HGMD

Summary

Number of Variants: 25
Number of Genes: 23

Export to: CSV
  • Page 1 of 1

ALDH3B1

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 fam3 AWI 11 rs58160034,rs397695802
dbSNP Clinvar
67789293 1910.06 G GC PASS 1/1 169 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 0.00280 0.99720 0.00024 None None None None None None ALDH3B1|0.033093329|68.12%
View fam3 AWI 11 rs11436139,rs58238184
dbSNP Clinvar
67795378 960.88 G GC PASS 1/1 77 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 0.99980 0.99980 0.00424 None None None None None None ALDH3B1|0.033093329|68.12%

CD207

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 fam3 AWI 2 rs11450450,rs397692276
dbSNP Clinvar
71062833 1203.44 G GC PASS 1/1 122 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 1.00000 1.00000 0.00025 None None None None None None CD207|0.004253024|86.68%

CLTCL1

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 fam3 AWI 22 rs11386977
dbSNP Clinvar
19189003 1113.34 A AC PASS 1/1 99 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 0.99980 0.99980 0.00051 None None None None None None CLTCL1|0.022666116|72.86%

CREB3L1

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 fam3 AWI 11 rs79068197,rs386373762
dbSNP Clinvar
46342259 1187.4 A AG PASS 1/1 131 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 0.99980 0.99980 0.00042 None None None None None None CREB3L1|0.229770101|33.39%

CYFIP2

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 fam3 AWI 5 rs5872508,rs397781034,rs397712438
dbSNP Clinvar
156721863 1960.68 T TC PASS 1/1 181 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 1.00000 1.00000 0.00203 None None None None None None CYFIP2|0.509393402|15.41%

CYP4B1

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 fam3 AWI 1 rs3215983
dbSNP Clinvar
47280746 351.6 GAT G PASS 0/1 109 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 0.13538 0.13540 0.11430 None None None None None None CYP4B1|0.038794091|66.17%

DIXDC1

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 fam3 AWI 11 rs11455434,rs376922505
dbSNP Clinvar
111853106 751.6 G GC PASS 1/1 68 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 1.00000 1.00000 0.00009 None None None None None None DIXDC1|0.324696755|25.81%

FAM228B

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 fam3 AWI 2 rs113322110,rs397822939
dbSNP Clinvar
24387178 1138.08 G GC PASS 1/1 70 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 0.96206 0.96210 0.03057 None None None None None None FAM228B|0.030483261|69.18%

KMT2B

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 fam3 AWI 19 rs11373774,rs398034465
dbSNP Clinvar
36214632 406.82 A AG PASS 1/1 27 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 1.00000 1.00000 0.00257 None None None None None None None

KRBA1

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 fam3 AWI 7 rs11424737
dbSNP Clinvar
149426305 2624.07 G GC PASS 1/1 262 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 1.00000 1.00000 0.00112 None None None None None None KRBA1|0.003479568|87.8%

MAPK8IP2

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 fam3 AWI 22 rs140511
dbSNP Clinvar
51042513 1184.88 C CG PASS 1/1 63 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 1.00000 1.00000 0.00725 None None None None None None MAPK8IP2|0.058785144|60.2%

NPRL3

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 fam3 AWI 16 rs57321480
dbSNP Clinvar
138772 1191.52 A AG PASS 1/1 124 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 1.00000 1.00000 0.00016 None None None None None None NPRL3|0.194653902|37.31%

OPLAH

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 fam3 AWI 8 rs60949781,rs796594277
dbSNP Clinvar
145106938 1111.89 GCC G PASS 1/1 94 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 1.00000 1.00000 0.00209 None None None None None None OPLAH|0.085381041|54.08%

PLCD3

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 fam3 AWI 17 rs35911033
dbSNP Clinvar
43192549 474.71 T TC PASS 1/1 52 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 0.99980 0.99980 0.00167 None None None None None None PLCD3|0.055013551|61.18%

PLEKHA2

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 fam3 AWI 8 rs5891050,rs398007544
dbSNP Clinvar
38827185 831.0 GC G PASS 1/1 43 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 1.00000 1.00000 0.00009 None None None None None None PLEKHA2|0.247298578|31.8%

PLXNB2

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 fam3 AWI 22 . 50716166 64.27 AG A,AA PASS 0/1 18 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None None None None None None None PLXNB2|0.022289222|73.04%

PPP1R9B

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 fam3 AWI 17 rs10669850
dbSNP Clinvar
48227384 665.36 G GGC PASS 1/1 70 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 1.00000 1.00000 0.02798 None None None None None None PPP1R9B|0.085244344|54.11%
View fam3 AWI 17 rs10669851
dbSNP Clinvar
48227403 657.53 G GGC PASS 1/1 76 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 1.00000 1.00000 0.01407 None None None None None None PPP1R9B|0.085244344|54.11%

PRKDC

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 fam3 AWI 8 rs11411516,rs370106149,rs397814002
dbSNP Clinvar
48805816 1817.49 A AG,G PASS 1/1 117 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 1.00000 1.00000 0.00078 None None None None None None PRKDC|0.642781418|10.36%

RECQL4

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 fam3 AWI 8 rs11342077,rs398010167
dbSNP Clinvar
145738767 737.35 CG C PASS 1/1 79 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 1.00000 1.00000 None None None None None None RECQL4|0.005456729|85.27%

RPF2

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 fam3 AWI 6 . 111303331 425.54 G C,GC PASS 1/2 64 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None None None None None None None RPF2|0.563530322|13.21%

SCAMP1

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 fam3 AWI 5 rs66744502
dbSNP Clinvar
77745853 187.7 C A,CA PASS 2/2 19 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 1.00000 1.00000 0.00071 None None None None None None SCAMP1|0.364956416|23.1%

SLC46A1

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 fam3 AWI 17 rs5819844,rs561780114
dbSNP Clinvar
26727721 2444.06 GA G PASS 1/1 230 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 1.00000 1.00000 0.00033 None None None None None None SARM1|0.349245398|24.19%,SLC46A1|0.07823181|55.6%

VSIG10L

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 fam3 AWI 19 rs11402251,rs397723022
dbSNP Clinvar
51835892 1276.6 T TG PASS 1/1 120 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 1.00000 1.00000 0.00207 None None None None None None VSIG10L|0.003923546|87.15%
  • Page 1 of 1