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 CHR:

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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
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+ Genes

Genes:

+ Genes associated with diseases

Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 45
Number of Genes: 0

Export to: CSV
  • Page 1 of 1
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 tz1 1 rs12145700
dbSNP Clinvar 		43123855 59.28 C T . 1/1 3 MOTIF[MA0058.1:Max] LOW None 0.23363 0.23360 None None None None None None None
View tz1 3 rs2241560
dbSNP Clinvar 		131081192 497.77 T C . 0/1 38 MOTIF[MA0058.1:Max] LOW None 0.14996 0.15000 None None None None None None None
View tz1 5 rs2973727
dbSNP Clinvar 		177658945 448.77 C T . 1/1 15 MOTIF[MA0058.1:Max] MODIFIER None 0.92252 0.92250 None None None None None None PHYKPL|0.050591269|62.48%
View tz1 6 rs3130456
dbSNP Clinvar 		31126252 95.03 C A . 1/1 4 MOTIF[MA0058.1:Max] LOW None 0.61601 0.61600 None None None None None None None
View tz1 6 rs3828916
dbSNP Clinvar 		31465915 5026.77 G C . 1/1 200 MOTIF[MA0058.1:Max] LOW None 0.85064 0.85060 None None None None None None MICB|0.000655639|97.5%
View tz1 8 rs4475500
dbSNP Clinvar 		144660523 1063.77 A G . 1/1 31 MOTIF[MA0058.1:Max] MODIFIER None 1.00000 1.00000 None None None None None None NAPRT|0.033021116|68.15%
View tz1 9 rs1018330
dbSNP Clinvar 		139980385 60.28 C A . 1/1 3 MOTIF[MA0058.1:Max] LOW None 0.50240 0.50240 None None None None None None None
View tz1 11 rs200143254
dbSNP Clinvar 		557553 1402.77 C G . 0/1 128 MOTIF[MA0058.1:Max] LOW None 0.00060 None None None None None None LMNTD2|0.001538992|92.59%
View tz1 12 rs2369393
dbSNP Clinvar 		751949 71.03 G A . 1/1 4 MOTIF[MA0058.1:Max] MODIFIER None 0.18690 0.18690 None None None None None None NINJ2|0.024763413|71.89%
View tz1 14 rs12587742
dbSNP Clinvar 		73393391 59.77 G A . 0/1 20 MOTIF[MA0058.1:Max] LOW None 0.22584 0.22580 None None None None None None DCAF4|0.051038025|62.35%
View tz1 17 rs753396712
dbSNP Clinvar 		78064216 416.73 CA... C . 0/1 78 MOTIF[MA0058.1:Max] LOW None None None None None None None CCDC40|0.000987297|95.52%
View tz1 19 rs73922740
dbSNP Clinvar 		17976942 59.28 C T . 1/1 3 MOTIF[MA0058.1:Max] LOW None 0.11961 0.11960 None None None None None None None
View tz1 20 rs147967125
dbSNP Clinvar 		61505648 145.9 C T . 1/1 5 MOTIF[MA0058.1:Max] LOW None 0.07588 0.07588 None None None None None None None
View tz1 21 rs16994724
dbSNP Clinvar 		38445522 33.77 G A . 0/1 8 MOTIF[MA0058.1:Max] MODIFIER None 0.09046 0.09046 None None None None None None None
View tz1 22 rs77442041
dbSNP Clinvar 		39707223 44.7 GA G . 1/1 2 MOTIF[MA0058.1:Max] LOW None 0.31450 0.31450 None None None None None None None
View tz1 3 rs4676602
dbSNP Clinvar 		39190321 71.03 C T . 1/1 4 MOTIF[MA0058.1:Max] LOW None 0.70328 0.70330 None None None None None None CSRNP1|0.017692673|75.48%
View tz1 3 rs6805596
dbSNP Clinvar 		125775818 108.9 G A . 1/1 5 MOTIF[MA0058.1:Max] LOW None 0.65016 0.65020 None None None None None None SLC41A3|0.008265436|82.38%
View tz1 3 rs9848547
dbSNP Clinvar 		194588531 107.9 C T . 1/1 5 MOTIF[MA0058.1:Max] LOW None 0.92392 0.92390 None None None None None None None
View tz1 3 rs55984826
dbSNP Clinvar 		194761615 143.84 C G . 1/1 6 MOTIF[MA0058.1:Max] LOW None 0.29253 0.29250 None None None None None None None
View tz1 5 rs226198
dbSNP Clinvar 		81573992 1251.77 C T . 1/1 42 MOTIF[MA0058.1:Max] LOW None 0.89896 0.89900 None None None None None None RPS23|0.200487295|36.72%
View tz1 6 rs1713862
dbSNP Clinvar 		74171467 1282.77 C G . 1/1 45 MOTIF[MA0058.1:Max] LOW None 0.91134 0.91130 None None None None None None MTO1|0.179068486|39.12%
View tz1 6 rs3816778
dbSNP Clinvar 		151773353 305.77 G C . 1/1 13 MOTIF[MA0058.1:Max] MODIFIER None 0.51937 0.51940 None None None None None None None
View tz1 6 rs12664443
dbSNP Clinvar 		167632072 59.28 T C . 1/1 3 MOTIF[MA0058.1:Max] MODIFIER None 0.16334 0.16330 None None None None None None None
View tz1 10 rs3781316
dbSNP Clinvar 		73099240 30.77 G A . 0/1 5 MOTIF[MA0058.1:Max] LOW None 0.47744 0.47740 None None None None None None SLC29A3|0.036742016|66.89%
View tz1 11 rs769440
dbSNP Clinvar 		64889416 281.77 G C . 0/1 41 MOTIF[MA0058.1:Max] MODIFIER None 0.44868 0.44870 None None None None None None FAU|0.593719693|11.99%,SYVN1|0.210771547|35.48%
View tz1 12 rs55828837
dbSNP Clinvar 		8388505 84.79 C T . 0/1 6 MOTIF[MA0058.1:Max] LOW None 0.37740 0.37740 None None None None None None None
View tz1 13 rs282576
dbSNP Clinvar 		113358864 119.84 A G . 1/1 6 MOTIF[MA0058.1:Max] MODIFIER None 0.85543 0.85540 None None None None None None ATP11A|0.13314168|45.42%
View tz1 16 rs11646653
dbSNP Clinvar 		28922149 6138.77 C T . 1/1 235 MOTIF[MA0058.1:Max] LOW None 0.75499 0.75500 None None None None None None RABEP2|0.084786865|54.26%
View tz1 16 rs72523665
dbSNP Clinvar 		69951847 444.73 C CCT . 1/1 11 MOTIF[MA0058.1:Max] LOW None 0.72644 0.72640 None None None None None None WWP2|0.488930934|16.36%
View tz1 19 rs28365954
dbSNP Clinvar 		4670402 263.78 G T . 1/1 8 MOTIF[MA0058.1:Max] LOW None 0.09425 0.09425 None None None None None None None
View tz1 19 rs71171425
dbSNP Clinvar 		36737103 53.7 C CAT . 1/1 2 MOTIF[MA0058.1:Max] LOW None None None None None None None ZNF565|0.01802398|75.27%
View tz1 19 rs6509244
dbSNP Clinvar 		46431011 95.03 T G . 1/1 4 MOTIF[MA0058.1:Max] MODIFIER None 0.83227 0.83230 None None None None None None None
View tz1 21 rs2839203
dbSNP Clinvar 		47716389 1000.77 C A . 1/1 40 MOTIF[MA0058.1:Max] LOW None 0.53275 0.53270 None None None None None None YBEY|0.008142838|82.51%
View tz1 21 rs9975854
dbSNP Clinvar 		47813646 95.78 A C . 0/1 8 MOTIF[MA0058.1:Max] MODIFIER None 0.32808 0.32810 None None None None None None PCNT|0.010255201|80.67%
View tz1 1 rs506367
dbSNP Clinvar 		234870917 96.03 C T . 1/1 4 MOTIF[MA0058.1:Max] LOW None 0.33486 0.33490 None None None None None None None
View tz1 1 rs2253831
dbSNP Clinvar 		237923053 1315.77 C T . 0/1 131 MOTIF[MA0058.1:Max] LOW None 0.76158 0.76160 0.27402 None None None None None None RYR2|0.544008282|14.03%
View tz1 8 rs112528209
dbSNP Clinvar 		103819615 1003.77 G A . 0/1 116 MOTIF[MA0058.1:Max] LOW None None None None None None None None
View tz1 8 rs2250895
dbSNP Clinvar 		145692296 2963.77 A C . 1/1 114 MOTIF[MA0058.1:Max] MODIFIER None 0.93730 0.93730 0.00952 None None None None None None KIFC2|0.020866379|73.72%
View tz1 9 rs77823626
dbSNP Clinvar 		74920300 143.0 T TC... . 1/1 4 MOTIF[MA0058.1:Max] LOW None 0.49320 None None None None None None None
View tz1 16 rs61764202
dbSNP Clinvar 		30134679 358.77 C T . 0/1 19 MOTIF[MA0058.1:Max] MODIFIER None 0.36202 0.36200 None None None None None None MAPK3|0.988267401|1.15%
View tz1 16 rs8055743
dbSNP Clinvar 		84545158 51.74 G T . 1/1 2 MOTIF[MA0058.1:Max] LOW None 0.75280 0.75280 None None None None None None TLDC1|0.002246003|90.29%
View tz1 19 rs1000329
dbSNP Clinvar 		16449517 156.8 C T . 1/1 7 MOTIF[MA0058.1:Max] LOW None 0.56070 0.56070 None None None None None None None
View tz1 19 rs61016164
dbSNP Clinvar 		49482205 62.74 A T . 1/1 2 MOTIF[MA0058.1:Max] MODIFIER None 0.38319 0.38320 None None None None None None GYS1|0.243152412|32.16%
View tz1 20 rs6095726
dbSNP Clinvar 		48595652 44.77 A G . 0/1 5 MOTIF[MA0058.1:Max] LOW None 0.40276 0.40280 None None None None None None None
View tz1 22 rs5767517
dbSNP Clinvar 		47525744 256.77 G A . 1/1 11 MOTIF[MA0058.1:Max] LOW None 0.29473 0.29470 None None None None None None TBC1D22A|0.06804196|57.91%
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