+ Filter Options

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 1

Genes:
MYO18B,

+ Genes associated with diseases 1

Genes at Omim

MYO18B,
MYO18B Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, 616549 (3)

Genes at Clinical Genomics Database

MYO18B,
MYO18B Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism

Genes at HGMD

Summary

Number of Variants: 11
Number of Genes: 1

Export to: CSV
  • Page 1 of 1

MYO18B
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 combined sample_66.variant27 22 rs61734946
dbSNP Clinvar 		26157068 1961.33 C G PASS 0/1 166 NON_SYNONYMOUS_CODING MODERATE None 0.07708 0.07708 0.13881 0.02 0.32 None None None None None None MYO18B|0.016156932|76.35%
View combined sample_66.variant27 22 rs133885
dbSNP Clinvar 		26159289 2906.2 G A PASS 0/1 110 NON_SYNONYMOUS_CODING MODERATE None 0.70168 0.70170 0.42909 1.00 0.00 None None None None None None MYO18B|0.016156932|76.35%
View combined sample_66.variant27 22 rs3859866
dbSNP Clinvar 		26166900 918.92 G C PASS 1/1 83 NON_SYNONYMOUS_CODING MODERATE None 0.93850 0.93850 0.02237 0.08 0.00 None None None None None None MYO18B|0.016156932|76.35%
View combined sample_66.variant27 22 rs5761170
dbSNP Clinvar 		26173661 3584.32 T C PASS 1/1 84 NON_SYNONYMOUS_CODING MODERATE None 0.93251 0.93250 0.02858 1.00 0.00 None None None None None None MYO18B|0.016156932|76.35%
View combined sample_66.variant27 22 rs738642
dbSNP Clinvar 		26193982 3710.06 C G PASS 1/1 132 SYNONYMOUS_CODING LOW None 0.68431 0.68430 0.35175 None None None None None None MYO18B|0.016156932|76.35%
View combined sample_66.variant27 22 rs738643
dbSNP Clinvar 		26194045 1986.42 T C PASS 1/1 89 SYNONYMOUS_CODING LOW None 0.56889 0.56890 0.40639 None None None None None None MYO18B|0.016156932|76.35%
View combined sample_66.variant27 22 rs4820658
dbSNP Clinvar 		26219605 1249.51 G A PASS 1/1 107 SYNONYMOUS_CODING LOW None 0.15915 0.15910 0.26488 None None None None None None MYO18B|0.016156932|76.35%
View combined sample_66.variant27 22 rs5761268
dbSNP Clinvar 		26239850 1142.23 C A PASS 1/1 47 NON_SYNONYMOUS_CODING MODERATE None 0.72344 0.72340 0.35795 1.00 0.00 None None None None None None MYO18B|0.016156932|76.35%
View combined sample_66.variant27 22 rs5996988
dbSNP Clinvar 		26247456 1162.85 G A PASS 1/1 69 SYNONYMOUS_CODING LOW None 0.24201 0.24200 0.31790 None None None None None None MYO18B|0.016156932|76.35%
View combined sample_66.variant27 22 rs916425
dbSNP Clinvar 		26388337 1525.87 C T PASS 0/1 157 SYNONYMOUS_CODING LOW None 0.11402 0.11400 0.16921 None None None None None None MYO18B|0.016156932|76.35%
View combined sample_66.variant27 22 rs2236005
dbSNP Clinvar 		26422980 2217.62 A G PASS 0/1 287 NON_SYNONYMOUS_CODING MODERATE None 0.42632 0.42630 0.34968 1.00 0.00 None None None None None None MYO18B|0.016156932|76.35%
  • Page 1 of 1