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SHOW ONLY VARIANTS PRESENT IN COMMON GENES BETWEEN ALL THE INDIVIDUALS SELECTED
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SHOW ONLY VARIANTS PRESENT AT HGMD

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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

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EXCLUDE VARIANTS WITHOUT SIFT SCORE 		POLYPHEN2 SCORE

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CADD

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EXCLUDE VARIANTS WITHOUT M-CAP SCORE
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+ Genes 4

Genes:
DIAPH1, GPR98, PIK3R1, TGFBI,

+ Genes associated with diseases 3

Genes at Omim

DIAPH1, PIK3R1, TGFBI,
DIAPH1 Deafness, autosomal dominant 1, 124900 (3)
Seizures, cortical blindness, microcephaly syndrome, 616632 (3)
PIK3R1 Immunodeficiency 36, 616005 (3)
SHORT syndrome, 269880 (3)
?Agammaglobulinemia 7, autosomal recessive, 615214 (3)
TGFBI Corneal dystrophy, Avellino type, 607541 (3)
Corneal dystrophy, Groenouw type I, 121900 (3)
Corneal dystrophy, Reis-Bucklers type, 608470 (3)
Corneal dystrophy, Thiel-Behnke type, 602082 (3)
Corneal dystrophy, epithelial basement membrane, 121820 (3)
Corneal dystrophy, lattice type I, 122200 (3)
Corneal dystrophy, lattice type IIIA, 608471 (3)

Genes at Clinical Genomics Database

DIAPH1, PIK3R1, TGFBI,
DIAPH1 Deafness, autosomal dominant 1
PIK3R1 Agammaglobulinemia 7, autosomal recessive
TGFBI Corneal dystrophy, lattice type I
Corneal dystrophy, lattice type IIIA
Corneal dystrophy of Bowman layer, type I
Corneal dystrophy, Avellino type
Corneal dystrophy, Reis-Bucklers type
Corneal dystrophy, Thiel-Behnke type
Corneal dystrophy, Groenouw type I
Corneal dystrophy, epithelial basement membrane

Genes at HGMD

Summary

Number of Variants: 76
Number of Genes: 4

Export to: CSV
  • Page 1 of 1

DIAPH1
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 12030_s5 5 rs34296458
dbSNP Clinvar 		140963703 100.0 G A PASS 0/1 47 SYNONYMOUS_CODING LOW None 0.03355 0.03355 0.03883 None None None None None None DIAPH1|0.460968984|17.63%

GPR98
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 12030_s5 5 rs6880570
dbSNP Clinvar 		90001368 100.0 T G PASS 0/1 59 SYNONYMOUS_CODING LOW None 0.27536 0.27540 0.19157 None None None None None None ADGRV1|0.328571635|25.58%
View 12030_s5 5 rs2366926
dbSNP Clinvar 		89988504 100.0 A G PASS 0/1 36 NON_SYNONYMOUS_CODING MODERATE None 0.32228 0.32230 0.29139 0.05 1.00 None None None None None None ADGRV1|0.328571635|25.58%
View 12030_s5 5 rs2438378
dbSNP Clinvar 		90119324 100.0 G A PASS 1/1 45 NON_SYNONYMOUS_CODING MODERATE None 0.97224 0.97220 0.02790 0.25 0.00 None None None None None None ADGRV1|0.328571635|25.58%
View 12030_s5 5 rs10037067
dbSNP Clinvar 		89985882 100.0 A G PASS 0/1 56 NON_SYNONYMOUS_CODING MODERATE None 0.34984 0.34980 0.31810 0.01 0.89 None None None None None None ADGRV1|0.328571635|25.58%
View 12030_s5 5 rs16868972
dbSNP Clinvar 		89979750 48.0 G T PASS 0/1 14 NON_SYNONYMOUS_CODING MODERATE None 0.31370 0.31370 0.22990 0.06 1.00 None None None None None None ADGRV1|0.328571635|25.58%
View 12030_s5 5 rs4916685
dbSNP Clinvar 		89979698 100.0 C T PASS 1/1 14 NON_SYNONYMOUS_CODING MODERATE None 0.33726 0.33730 0.30536 0.08 1.00 None None None None None None ADGRV1|0.328571635|25.58%
View 12030_s5 5 rs41303352
dbSNP Clinvar 		89979691 48.0 A G PASS 0/1 14 NON_SYNONYMOUS_CODING MODERATE None 0.00060 0.00060 0.18921 0.09 0.01 None None None None None None ADGRV1|0.328571635|25.58%
View 12030_s5 5 rs4916684
dbSNP Clinvar 		89979589 100.0 G A PASS 1/1 65 NON_SYNONYMOUS_CODING MODERATE None 0.80371 0.80370 0.27248 0.89 0.00 None None None None None None ADGRV1|0.328571635|25.58%
View 12030_s5 5 rs16869042
dbSNP Clinvar 		90020923 100.0 T G PASS 0/1 64 SYNONYMOUS_CODING LOW None 0.29627 None None None None None None ADGRV1|0.328571635|25.58%
View 12030_s5 5 rs16868935
dbSNP Clinvar 		89948305 100.0 A G PASS 0/1 37 NON_SYNONYMOUS_CODING MODERATE None 0.00919 0.00919 0.00914 0.32 0.00 None None None None None None ADGRV1|0.328571635|25.58%
View 12030_s5 5 rs2366777
dbSNP Clinvar 		89943571 100.0 G T PASS 1/1 60 NON_SYNONYMOUS_CODING MODERATE None 0.81030 0.81030 0.27251 1.00 0.00 None None None None None None ADGRV1|0.328571635|25.58%
View 12030_s5 5 rs2366928
dbSNP Clinvar 		90024735 100.0 G A PASS 1/1 19 NON_SYNONYMOUS_CODING MODERATE None 0.82907 0.82910 0.24704 1.00 0.00 None None None None None None ADGRV1|0.328571635|25.58%
View 12030_s5 5 rs2438349
dbSNP Clinvar 		90052372 100.0 C T PASS 1/1 62 SYNONYMOUS_CODING LOW None 0.53934 0.53930 0.47965 None None None None None None ADGRV1|0.328571635|25.58%
View 12030_s5 5 rs2438374
dbSNP Clinvar 		90107108 100.0 A G PASS 1/1 89 NON_SYNONYMOUS_CODING MODERATE None 0.94609 0.94610 0.06388 1.00 0.00 None None None None None None ADGRV1|0.328571635|25.58%
View 12030_s5 5 rs143004930
dbSNP Clinvar 		90050990 100.0 T C PASS 0/1 29 SYNONYMOUS_CODING LOW None 0.00260 0.00260 0.00211 None None None None None None ADGRV1|0.328571635|25.58%
View 12030_s5 5 rs1878878
dbSNP Clinvar 		89990324 100.0 A G PASS 1/1 65 NON_SYNONYMOUS_CODING MODERATE None 0.80851 0.80850 0.26875 1.00 0.00 None None None None None None ADGRV1|0.328571635|25.58%
View 12030_s5 5 rs77469944
dbSNP Clinvar 		90445889 100.0 A G PASS 0/1 28 NON_SYNONYMOUS_CODING MODERATE None 0.07388 0.07388 0.03879 0.06 0.00 None None None None None None ADGRV1|0.328571635|25.58%
View 12030_s5 5 rs16876822
dbSNP Clinvar 		89989779 100.0 G A PASS 0/1 17 SYNONYMOUS_CODING LOW None 0.32209 0.32210 0.29030 None None None None None None ADGRV1|0.328571635|25.58%
View 12030_s5 5 rs13158963
dbSNP Clinvar 		90449154 100.0 G A PASS 0/1 136 SYNONYMOUS_CODING LOW None 0.13818 0.13820 0.11756 None None None None None None ADGRV1|0.328571635|25.58%

PIK3R1
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 12030_s5 5 rs706713
dbSNP Clinvar 		67522722 100.0 C T PASS 0/1 20 SYNONYMOUS_CODING LOW None 0.41933 0.41930 0.29333 None None None None None None PIK3R1|0.917149804|3.05%
View 12030_s5 5 rs3729981
dbSNP Clinvar 		67593363 100.0 T C PASS 0/1 22 SYNONYMOUS_CODING LOW None 0.04253 0.04253 0.04890 None None None None None None PIK3R1|0.917149804|3.05%
View 12030_s5 5 rs3730089
dbSNP Clinvar 		67588148 100.0 G A PASS 0/1 103 NON_SYNONYMOUS_CODING MODERATE None 0.22045 0.22040 0.23828 0.41 0.00 None None None None None None PIK3R1|0.917149804|3.05%

TGFBI
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 12030_s5 5 rs4669
dbSNP Clinvar 		135392426 100.0 T C PASS 1/1 65 SYNONYMOUS_CODING LOW None 0.42053 0.42050 0.37555 None None None None None None TGFBI|0.999587957|0.3%
View 12030_s5 5 rs1054124
dbSNP Clinvar 		135388663 100.0 A G PASS 1/1 21 SYNONYMOUS_CODING LOW None 0.38718 0.38720 0.34547 None None None None None None TGFBI|0.999587957|0.3%
View 12030_s5 5 rs1133170
dbSNP Clinvar 		135391374 100.0 C T PASS 0/1 42 SYNONYMOUS_CODING LOW None 0.28015 0.28020 0.28005 None None None None None None TGFBI|0.999587957|0.3%
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 12030_s5 5 rs74959352
dbSNP Clinvar 		90041288 100.0 G A PASS 0/1 39 None None None 0.03934 0.03934 None None None None None None ADGRV1|0.328571635|25.58%
View 12030_s5 5 rs2438357
dbSNP Clinvar 		90041225 100.0 G A PASS 0/1 39 None None None 0.39257 0.39260 None None None None None None ADGRV1|0.328571635|25.58%
View 12030_s5 5 rs4916815
dbSNP Clinvar 		90021499 100.0 G T PASS 0/1 19 None None None 0.60260 None None None None None None ADGRV1|0.328571635|25.58%
View 12030_s5 5 rs7723259
dbSNP Clinvar 		90020868 100.0 A C PASS 1/1 64 None None None 0.79812 0.79810 0.28279 None None None None None None ADGRV1|0.328571635|25.58%
View 12030_s5 5 rs6452906
dbSNP Clinvar 		90016129 100.0 A G PASS 1/1 15 None None None 0.79812 0.79810 None None None None None None ADGRV1|0.328571635|25.58%
View 12030_s5 5 rs6881412
dbSNP Clinvar 		90015792 100.0 C T PASS 1/1 12 None None None 0.80531 0.80530 None None None None None None ADGRV1|0.328571635|25.58%
View 12030_s5 5 rs10067181
dbSNP Clinvar 		90012614 100.0 A T PASS 0/1 46 None None None 0.66414 0.66410 None None None None None None ADGRV1|0.328571635|25.58%
View 12030_s5 5 rs74483176
dbSNP Clinvar 		90008047 100.0 A G PASS 0/1 28 None None None 0.04273 0.04273 None None None None None None ADGRV1|0.328571635|25.58%
View 12030_s5 5 rs7732169
dbSNP Clinvar 		90007196 100.0 C T PASS 0/1 50 None None None 0.66314 0.66310 None None None None None None ADGRV1|0.328571635|25.58%
View 12030_s5 5 rs60522638
dbSNP Clinvar 		90002220 100.0 C CT PASS 1/1 51 None None None None None None None None None ADGRV1|0.328571635|25.58%
View 12030_s5 5 rs10942604
dbSNP Clinvar 		89993045 79.0 T C PASS 0/1 15 None None None 0.32049 0.32050 None None None None None None ADGRV1|0.328571635|25.58%
View 12030_s5 5 rs10068473
dbSNP Clinvar 		89990545 100.0 C A PASS 1/1 31 None None None 0.00140 0.64720 0.45261 None None None None None None ADGRV1|0.328571635|25.58%
View 12030_s5 5 rs10040165
dbSNP Clinvar 		89988412 100.0 G A PASS 0/1 29 None None None 0.32209 0.32210 0.29178 None None None None None None ADGRV1|0.328571635|25.58%
View 12030_s5 5 rs4916683
dbSNP Clinvar 		89979380 100.0 T C PASS 0/1 25 None None None 0.32268 0.32270 0.29722 None None None None None None ADGRV1|0.328571635|25.58%
View 12030_s5 5 rs35654587,rs397998661
dbSNP Clinvar 		89940739 100.0 AT A PASS 1/1 19 None None None 0.05032 0.05032 None None None None None None ADGRV1|0.328571635|25.58%
View 12030_s5 5 rs2366773
dbSNP Clinvar 		89938587 100.0 C T PASS 1/1 88 None None None 0.82129 0.82130 0.25136 None None None None None None ADGRV1|0.328571635|25.58%
View 12030_s5 5 rs142011700
dbSNP Clinvar 		89925363 100.0 G A PASS 1/1 30 None None None 0.00839 0.00839 0.00845 None None None None None None ADGRV1|0.328571635|25.58%
View 12030_s5 5 rs2366771
dbSNP Clinvar 		89924976 100.0 C A PASS 1/1 60 None None None 0.79034 0.79030 0.28226 None None None None None None ADGRV1|0.328571635|25.58%
View 12030_s5 5 rs895304
dbSNP Clinvar 		67592281 100.0 G A PASS 0/1 31 None None None 0.30711 0.30710 None None None None None None PIK3R1|0.917149804|3.05%
View 12030_s5 5 rs146841842
dbSNP Clinvar 		67589697 100.0 G GAGT PASS 0/1 70 None None None 0.03295 0.03295 0.03480 None None None None None None PIK3R1|0.917149804|3.05%
View 12030_s5 5 rs3730088
dbSNP Clinvar 		67588000 100.0 A G PASS 0/1 29 None None None 0.14597 0.14600 None None None None None None PIK3R1|0.917149804|3.05%
View 12030_s5 5 rs3730087
dbSNP Clinvar 		67587994 100.0 C T PASS 1/1 29 None None None 0.64437 0.64440 None None None None None None PIK3R1|0.917149804|3.05%
View 12030_s5 5 rs796402339
dbSNP Clinvar 		67584512 100.0 AT A R5x9 0/1 39 None None None None None None None None None PIK3R1|0.917149804|3.05%
View 12030_s5 5 rs3730077
dbSNP Clinvar 		67522920 100.0 T C PASS 0/1 85 None None None 0.02077 0.02077 None None None None None None PIK3R1|0.917149804|3.05%
View 12030_s5 5 rs1160121
dbSNP Clinvar 		90001988 100.0 G T PASS 1/1 26 None None None 0.70807 0.70810 None None None None None None ADGRV1|0.328571635|25.58%
View 12030_s5 5 rs373320373
dbSNP Clinvar 		140962729 100.0 T C PASS 0/1 65 None None None 0.00076 None None None None None None DIAPH1|0.460968984|17.63%
View 12030_s5 5 rs2302103
dbSNP Clinvar 		140955777 100.0 C T PASS 1/1 32 None None None 0.64097 0.64100 0.31892 None None None None None None DIAPH1|0.460968984|17.63%
View 12030_s5 5 rs6880837
dbSNP Clinvar 		135396669 100.0 T C PASS 0/1 89 None None None 0.59105 0.59110 0.42413 None None None None None None TGFBI|0.999587957|0.3%
View 12030_s5 5 rs13188659
dbSNP Clinvar 		135396468 100.0 T A PASS 1/1 22 None None None 0.59365 0.59370 None None None None None None TGFBI|0.999587957|0.3%
View 12030_s5 5 rs13168506
dbSNP Clinvar 		135396452 100.0 A G PASS 1/1 22 None None None 0.59565 0.59560 None None None None None None TGFBI|0.999587957|0.3%
View 12030_s5 5 rs6860369
dbSNP Clinvar 		135391326 100.0 A G PASS 1/1 39 None None None 0.40415 0.40420 0.37090 None None None None None None TGFBI|0.999587957|0.3%
View 12030_s5 5 rs6889640
dbSNP Clinvar 		135389425 100.0 C A PASS 0/1 22 None None None 0.36981 0.36980 None None None None None None TGFBI|0.999587957|0.3%
View 12030_s5 5 rs17169753
dbSNP Clinvar 		135385316 100.0 T C PASS 1/1 84 None None None 0.40655 0.40650 0.36110 None None None None None None TGFBI|0.999587957|0.3%
View 12030_s5 5 rs2288393
dbSNP Clinvar 		121412890 100.0 C G PASS 0/1 22 None None None 0.12999 0.13000 None None None None None None LOX|0.986128219|1.23%
View 12030_s5 5 rs78389649
dbSNP Clinvar 		121412412 100.0 CA C PASS 1/1 20 None None None 0.28594 0.28590 None None None None None None LOX|0.986128219|1.23%
View 12030_s5 5 rs188886969
dbSNP Clinvar 		121411065 37.0 A T PASS 0/1 11 None None None 0.00040 0.00040 0.00123 None None None None None None SRFBP1|0.042412245|64.99%,LOX|0.986128219|1.23%
View 12030_s5 5 rs7726023
dbSNP Clinvar 		90449031 100.0 T C PASS 1/1 33 None None None 0.89836 0.89840 0.08332 None None None None None None ADGRV1|0.328571635|25.58%
View 12030_s5 5 rs72784680
dbSNP Clinvar 		90445831 91.0 T C PASS 0/1 28 None None None 0.09046 0.09046 None None None None None None ADGRV1|0.328571635|25.58%
View 12030_s5 5 rs794727947
dbSNP Clinvar 		90445826 91.0 CT C R5x9 0/1 28 None None None None None None None None None ADGRV1|0.328571635|25.58%
View 12030_s5 5 rs73179340
dbSNP Clinvar 		90144347 100.0 T A PASS 0/1 20 None None None 0.01957 0.01957 None None None None None None ADGRV1|0.328571635|25.58%
View 12030_s5 5 rs73179321
dbSNP Clinvar 		90119198 100.0 G A PASS 0/1 42 None None None 0.02336 0.02336 0.01962 None None None None None None ADGRV1|0.328571635|25.58%
View 12030_s5 5 rs184826267
dbSNP Clinvar 		90086592 100.0 T A PASS 0/1 21 None None None None None None None None None ADGRV1|0.328571635|25.58%
View 12030_s5 5 rs80065657
dbSNP Clinvar 		90083836 100.0 G A PASS 0/1 46 None None None 0.03015 0.03015 None None None None None None ADGRV1|0.328571635|25.58%
View 12030_s5 5 rs879571
dbSNP Clinvar 		90079972 100.0 C T PASS 1/1 13 None None None 0.31909 0.31910 None None None None None None ADGRV1|0.328571635|25.58%
View 12030_s5 5 rs881289
dbSNP Clinvar 		90059001 100.0 T A PASS 1/1 14 None None None 0.72844 0.72840 None None None None None None ADGRV1|0.328571635|25.58%
View 12030_s5 5 rs114050299
dbSNP Clinvar 		90055179 100.0 C G PASS 0/1 24 None None None 0.02776 0.02776 0.02079 None None None None None None ADGRV1|0.328571635|25.58%
View 12030_s5 5 rs76883417
dbSNP Clinvar 		90055130 100.0 C A PASS 0/1 24 None None None None None None None None None ADGRV1|0.328571635|25.58%
View 12030_s5 5 rs34894132
dbSNP Clinvar 		90052263 100.0 T TC PASS 0/1 23 None None None 0.38518 0.38520 None None None None None None ADGRV1|0.328571635|25.58%
View 12030_s5 5 rs80057006
dbSNP Clinvar 		90049367 71.0 C T PASS 0/1 20 None None None 0.06230 0.06230 0.05875 None None None None None None ADGRV1|0.328571635|25.58%
View 12030_s5 5 rs2438339
dbSNP Clinvar 		90049238 100.0 A G PASS 1/1 20 None None None 0.82828 0.82830 None None None None None None ADGRV1|0.328571635|25.58%
  • Page 1 of 1