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

COL2A1, KERA, KRT3,
COL2A1 Avascular necrosis of the femoral head, 608805 (3)
Czech dysplasia, 609162 (3)
Epiphyseal dysplasia, multiple, with myopia and deafness, 132450 (3)
Kniest dysplasia, 156550 (3)
Legg-Calve-Perthes disease, 150600 (3)
Osteoarthritis with mild chondrodysplasia, 604864 (3)
Platyspondylic skeletal dysplasia, Torrance type, 151210 (3)
SED congenita, 183900 (3)
SMED Strudwick type, 184250 (3)
Spondyloepiphyseal dysplasia, Stanescu type, 616583 (3)
Spondyloperipheral dysplasia, 271700 (3)
Stickler sydrome, type I, nonsyndromic ocular, 609508 (3)
Stickler syndrome, type I, 108300 (3)
Vitreoretinopathy with phalangeal epiphyseal dysplasia (3)
Achondrogenesis, type II or hypochondrogenesis, 200610 (3)
KERA Cornea plana 2, autosomal recessive, 217300 (3)
KRT3 Meesmann corneal dystrophy, 122100 (3)

Genes at Clinical Genomics Database

COL2A1, KERA, KRT3,
COL2A1 Otospondylomegaepiphyseal dysplasia
Stickler syndrome, type I
Rhegmatogenous retinal detachment, autosomal dominant
Czech dysplasia
Epiphyseal dysplasia, multiple, with myopia and deafness
Avascular necrosis of femoral head, primary
KERA Cornea plana 2, autosomal recessive
KRT3 Meesmann corneal dystrophy

Genes at HGMD

Summary

Number of Variants: 37
Number of Genes: 4

Export to: CSV
  • Page 1 of 1

COL2A1

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 2761_s29 12 rs3737548
dbSNP Clinvar
48391416 100.0 G T PASS 0/1 84 SYNONYMOUS_CODING LOW None 0.21925 0.21920 0.20145 None None None None None None COL2A1|0.956600158|2.04%
View 2761_s29 12 rs1635553
dbSNP Clinvar
48375568 100.0 A G PASS 1/1 21 SYNONYMOUS_CODING LOW None 0.48283 0.48280 0.45279 None None None None None None COL2A1|0.956600158|2.04%
View 2761_s29 12 rs2276454
dbSNP Clinvar
48376291 82.0 G A PASS 0/1 13 SYNONYMOUS_CODING LOW None 0.42971 0.42970 0.38682 None None None None None None COL2A1|0.956600158|2.04%
View 2761_s29 12 rs3803183
dbSNP Clinvar
48398080 100.0 T A PASS 1/1 18 NON_SYNONYMOUS_CODING MODERATE None 0.68530 0.68530 0.21085 0.18 0.00 None None None None None None COL2A1|0.956600158|2.04%
View 2761_s29 12 rs41317939
dbSNP Clinvar
48378380 100.0 A G PASS 0/1 68 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.02077 0.02077 0.04898 None None None None None None COL2A1|0.956600158|2.04%

KERA

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 2761_s29 12 rs2735333
dbSNP Clinvar
91449990 100.0 C T PASS 0/1 64 SYNONYMOUS_CODING LOW None 0.62001 0.62000 0.36689 None None None None None None KERA|0.287600325|28.54%
View 2761_s29 12 rs12320366
dbSNP Clinvar
91449984 100.0 C T PASS 0/1 64 SYNONYMOUS_CODING LOW None 0.22564 0.22560 0.25254 None None None None None None KERA|0.287600325|28.54%

KRT3

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 2761_s29 12 rs4432093
dbSNP Clinvar
53186122 100.0 G A PASS 0/1 69 SYNONYMOUS_CODING LOW None 0.78774 0.78770 0.18937 None None None None None None KRT3|0.041114774|65.41%

PXN

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 2761_s29 12 rs4767884
dbSNP Clinvar
120661977 100.0 T C PASS 1/1 117 NON_SYNONYMOUS_CODING MODERATE None 0.90076 0.90080 0.16978 0.56 0.00 None None None None None None PXN|0.716901595|8.07%
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 2761_s29 12 rs1034762
dbSNP Clinvar
48389643 100.0 A C PASS 1/1 80 None None None 0.68271 0.68270 0.17915 None None None None None None COL2A1|0.956600158|2.04%
View 2761_s29 12 rs3216168
dbSNP Clinvar
48388995 100.0 TC T PASS 0/1 57 None None None 0.21865 0.21870 0.20235 None None None None None None COL2A1|0.956600158|2.04%
View 2761_s29 12 rs55921916
dbSNP Clinvar
48388102 100.0 G A PASS 0/1 21 None None None 0.05571 0.05571 None None None None None None COL2A1|0.956600158|2.04%
View 2761_s29 12 rs10875714
dbSNP Clinvar
48380682 100.0 G A PASS 0/1 38 None None None 0.20367 0.20370 0.20767 None None None None None None COL2A1|0.956600158|2.04%
View 2761_s29 12 rs1635544
dbSNP Clinvar
48380031 100.0 A G PASS 1/1 28 None None None 0.48602 0.48600 None None None None None None COL2A1|0.956600158|2.04%
View 2761_s29 12 rs7963636
dbSNP Clinvar
48379856 100.0 T C PASS 1/1 36 None None None 0.51198 0.51200 None None None None None None COL2A1|0.956600158|2.04%
View 2761_s29 12 rs3829734
dbSNP Clinvar
48379810 100.0 G A PASS 1/1 35 None None None 0.38958 0.38960 0.34626 None None None None None None COL2A1|0.956600158|2.04%
View 2761_s29 12 rs41317929
dbSNP Clinvar
48379408 100.0 C T PASS 0/1 89 None None None 0.02196 0.02196 0.05059 None None None None None None COL2A1|0.956600158|2.04%
View 2761_s29 12 rs41317933
dbSNP Clinvar
48378900 100.0 A G PASS 0/1 32 None None None 0.02236 0.02236 0.05092 None None None None None None COL2A1|0.956600158|2.04%
View 2761_s29 12 rs3803184
dbSNP Clinvar
48398002 100.0 G C PASS 1/1 24 None None None 0.68590 0.68590 0.21576 None None None None None None COL2A1|0.956600158|2.04%
View 2761_s29 12 rs1635550
dbSNP Clinvar
48377970 100.0 A G PASS 1/1 36 None None None 0.68311 0.68310 0.23404 None None None None None None COL2A1|0.956600158|2.04%
View 2761_s29 12 rs41263845
dbSNP Clinvar
48377947 100.0 G T PASS 0/1 36 None None None 0.02177 0.02177 0.04936 None None None None None None COL2A1|0.956600158|2.04%
View 2761_s29 12 rs17801742
dbSNP Clinvar
48376869 100.0 T C PASS 0/1 77 None None None 0.02556 0.02556 0.05007 None None None None None None COL2A1|0.956600158|2.04%
View 2761_s29 12 rs55967487
dbSNP Clinvar
48376574 100.0 G A PASS 0/1 111 None None None 0.02776 0.02776 None None None None None None COL2A1|0.956600158|2.04%
View 2761_s29 12 rs11168337
dbSNP Clinvar
48376530 100.0 C A PASS 1/1 112 None None None 0.50160 0.50160 None None None None None None COL2A1|0.956600158|2.04%
View 2761_s29 12 rs3829736
dbSNP Clinvar
48376503 100.0 C T PASS 1/1 111 None None None 0.45567 0.45570 None None None None None None COL2A1|0.956600158|2.04%
View 2761_s29 12 rs3829737
dbSNP Clinvar
48376447 100.0 A G PASS 1/1 108 None None None None None None None None None COL2A1|0.956600158|2.04%
View 2761_s29 12 rs3842680,rs397934282
dbSNP Clinvar
48376443 100.0 A AC PASS 1/1 119 None None None 0.43530 None None None None None None COL2A1|0.956600158|2.04%
View 2761_s29 12 rs3803182
dbSNP Clinvar
48398223 100.0 G A PASS 1/1 18 None None None 0.72764 0.72760 None None None None None None COL2A1|0.956600158|2.04%
View 2761_s29 12 rs2276456
dbSNP Clinvar
48375975 100.0 A G PASS 0/1 59 None None None 0.47324 0.47320 0.42142 None None None None None None COL2A1|0.956600158|2.04%
View 2761_s29 12 rs2276457
dbSNP Clinvar
48375965 100.0 C T PASS 0/1 59 None None None 0.44629 0.44630 0.38997 None None None None None None COL2A1|0.956600158|2.04%
View 2761_s29 12 rs41263861
dbSNP Clinvar
48375668 74.0 C A PASS 0/1 18 None None None 0.03355 0.03355 0.05585 None None None None None None COL2A1|0.956600158|2.04%
View 2761_s29 12 rs529657632
dbSNP Clinvar
120652855 100.0 C T PASS 1/1 148 None None None 0.00080 0.00080 None None None None None None PXN|0.716901595|8.07%
View 2761_s29 12 rs2276458
dbSNP Clinvar
48374826 100.0 T G PASS 0/1 43 None None None 0.31989 0.31990 0.34544 None None None None None None COL2A1|0.956600158|2.04%
View 2761_s29 12 rs12300271
dbSNP Clinvar
48374616 100.0 T C PASS 0/1 87 None None None 0.12919 0.12920 None None None None None None COL2A1|0.956600158|2.04%
View 2761_s29 12 rs1635554
dbSNP Clinvar
48374513 100.0 A G PASS 1/1 86 None None None 0.93530 0.93530 None None None None None None COL2A1|0.956600158|2.04%
View 2761_s29 12 rs4760608
dbSNP Clinvar
48368989 100.0 A C PASS 0/1 24 None None None 0.21566 0.21570 None None None None None None COL2A1|0.956600158|2.04%
View 2761_s29 12 rs1635560
dbSNP Clinvar
48367829 100.0 G A PASS 0/1 72 None None None 0.22304 0.22300 0.22997 None None None None None None COL2A1|0.956600158|2.04%
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