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

ADCY3, ALMS1, CEP164, DOCK6, GNA11, GRIN2B, KY, LAMA4, LTBP2, MYLK2, PROZ, PRSS1, TRIM2, ZFP57,
ADCY3 {Obesity, susceptibility to, BMIQ19}, 617885 (3)
ALMS1 Alstrom syndrome, 203800 (3)
CEP164 Nephronophthisis 15, 614845 (3)
DOCK6 Adams-Oliver syndrome 2, 614219 (3)
GNA11 Hypocalcemia, autosomal dominant 2, 615361 (3)
Hypocalciuric hypercalcemia, type II, 145981 (3)
GRIN2B Epileptic encephalopathy, early infantile, 27, 616139 (3)
Mental retardation, autosomal dominant 6, 613970 (3)
KY Myopathy, myofibrillar, 7, 617114 (3)
LAMA4 Cardiomyopathy, dilated, 1JJ, 615235 (3)
LTBP2 Glaucoma 3, primary congenital, D, 613086 (3)
Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, 251750 (3)
?Weill-Marchesani syndrome 3, recessive, 614819 (3)
MYLK2 Cardiomyopathy, hypertrophic, 1, digenic, 192600 (3)
PROZ [Protein Z deficiency], 614024 (3)
PRSS1 Pancreatitis, hereditary, 167800 (3)
Trypsinogen deficiency, 614044 (1)
TRIM2 Charcot-Marie-Tooth disease, type 2R, 615490 (3)
ZFP57 Diabetes mellitus, transient neonatal, 1, 601410 (3)

Genes at Clinical Genomics Database

ALMS1, CEP164, DOCK6, GNA11, GRIN2B, LAMA4, LTBP2, MYLK2, PROZ, PRSS1, TRIM2, ZFP57,
ALMS1 Alstrom syndrome
CEP164 Nephronophthisis 15
DOCK6 Adams-Oliver syndrome 2
GNA11 Hypocalcemia 2, autosomal dominant
Hypocalciuric hypercalcemia, autosomal dominant
GRIN2B Mental retardation, autosomal dominant 6
Epileptic encephalopathy, early infantile 27
LAMA4 Cardiomyopathy, dilated, 1JJ
LTBP2 Glaucoma 3, primary congenital, D
Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma
Weill-Marchesani syndrome 3
MYLK2 Cardiomyopathy, hypertrophic
PROZ Protein Z deficiency
PRSS1 Pancreatitis, hereditary
TRIM2 Charcot-Marie-Tooth disease, axonal, type 2R
ZFP57 Diabetes mellitus, transient neonatal, 1

Genes at HGMD

Summary

Number of Variants: 72
Number of Genes: 44

Export to: CSV
  • Page 1 of 1

ABHD6

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 2_s2 3 rs144733869
dbSNP Clinvar
58255077 24.89 C T LowGQX;LowGQ 1/1 2 SYNONYMOUS_CODING LOW SILENT 0.00020 0.00020 0.00023 None None None None None None ABHD6|0.317864561|26.24%

ACTL6A

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 2_s2 3 . 179292181 10.43 G A LowGQX;LowGQ 1/1 2 SYNONYMOUS_CODING LOW SILENT None None None None None None ACTL6A|0.89447236|3.58%

ADCY3

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 2_s2 2 rs1127568
dbSNP Clinvar
25046090 14.92 T C LowGQX;LowGQ 1/1 2 SYNONYMOUS_CODING LOW SILENT 0.69129 0.69130 0.37460 None None None None None None ADCY3|0.184618724|38.39%

AHNAK2

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 2_s2 14 rs60106058
dbSNP Clinvar
105414252 8.47 C T LowGQX;LowGQ 1/1 1 SYNONYMOUS_CODING LOW SILENT 0.45487 0.45490 0.47157 None None None None None None AHNAK2|0.000253171|99.62%

AIFM3

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 2_s2 22 rs178269
dbSNP Clinvar
21331043 14.92 A T LowGQX;LowGQ 1/1 2 SYNONYMOUS_CODING LOW SILENT 1.00000 1.00000 None None None None None None AIFM3|0.183569407|38.59%

ALMS1

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 2_s2 2 rs6546836
dbSNP Clinvar
73677833 224.55 A G LowGQ 1/1 9 SYNONYMOUS_CODING LOW SILENT 0.33826 0.33830 0.37194 None None None None None None ALMS1|0.012791041|78.65%

C16orf71

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 2_s2 16 rs859305
dbSNP Clinvar
4790273 87.64 G A LowGQX;LowGQ 1/1 3 SYNONYMOUS_CODING LOW SILENT 0.55272 0.55270 0.41835 None None None None None None C16orf71|0.001288696|93.97%

CCDC81

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 2_s2 11 rs3741006
dbSNP Clinvar
86123467 51.22 G A LowGQX;LowGQ 1/1 2 SYNONYMOUS_CODING LOW SILENT 0.32209 0.32210 0.34295 None None None None None None CCDC81|0.018954727|74.69%

CDC27

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 2_s2 17 rs796222654
dbSNP Clinvar
45214616 14.11 A G LowGQX;LowGQ 1/1 2 SYNONYMOUS_CODING LOW SILENT None None None None None None CDC27|0.658499283|9.78%
View 2_s2 17 rs75731161
dbSNP Clinvar
45214582 14.11 A G LowGQX;LowGQ 1/1 2 SYNONYMOUS_CODING LOW SILENT None None None None None None CDC27|0.658499283|9.78%
View 2_s2 17 rs62075619
dbSNP Clinvar
45214544 14.11 T C LowGQX;LowGQ 1/1 2 SYNONYMOUS_CODING LOW SILENT None None None None None None CDC27|0.658499283|9.78%
View 2_s2 17 rs75175938
dbSNP Clinvar
45234632 14.92 A G LowGQX;LowGQ 1/1 2 SYNONYMOUS_CODING LOW SILENT None None None None None None CDC27|0.658499283|9.78%
View 2_s2 17 rs76359747
dbSNP Clinvar
45234626 14.92 T G LowGQX;LowGQ 1/1 2 SYNONYMOUS_CODING LOW SILENT None None None None None None CDC27|0.658499283|9.78%
View 2_s2 17 rs76836956
dbSNP Clinvar
45221303 14.92 G A LowGQX;LowGQ 1/1 2 SYNONYMOUS_CODING LOW SILENT 0.00020 0.00020 None None None None None None CDC27|0.658499283|9.78%
View 2_s2 17 rs62075622
dbSNP Clinvar
45214682 14.11 A G LowGQX;LowGQ 1/1 2 SYNONYMOUS_CODING LOW SILENT None None None None None None CDC27|0.658499283|9.78%
View 2_s2 17 rs62075621
dbSNP Clinvar
45214673 14.11 T C LowGQX;LowGQ 1/1 2 SYNONYMOUS_CODING LOW SILENT None None None None None None CDC27|0.658499283|9.78%
View 2_s2 17 rs138020641
dbSNP Clinvar
45214643 14.11 A C LowGQX;LowGQ 1/1 2 SYNONYMOUS_CODING LOW SILENT None None None None None None CDC27|0.658499283|9.78%
View 2_s2 17 rs11570544
dbSNP Clinvar
45214631 14.11 G A LowGQX;LowGQ 1/1 2 SYNONYMOUS_CODING LOW SILENT 0.01418 0.01418 None None None None None None CDC27|0.658499283|9.78%

CEP164

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 2_s2 11 rs522885
dbSNP Clinvar
117282800 81.84 G T LowVariantFreq 0/1 26 SYNONYMOUS_CODING LOW SILENT 0.90835 0.90830 0.03540 None None None None None None CEP164|0.276473275|29.41%

DOCK6

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 2_s2 19 . 11348156 14.92 G T LowGQX;LowGQ 1/1 2 SYNONYMOUS_CODING LOW SILENT None None None None None None DOCK6|0.04890117|62.98%

FAM178B

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 2_s2 2 rs1796048
dbSNP Clinvar
97643576 14.92 T C LowGQX;LowGQ 1/1 2 SYNONYMOUS_CODING LOW SILENT 0.34405 0.34400 None None None None None None FAM178B|0.009422898|81.35%

FGD2

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 2_s2 6 . 36993579 7.08 C G LowGQX;LowGQ 1/1 1 SYNONYMOUS_CODING LOW SILENT None None None None None None FGD2|0.074287956|56.46%

FLOT2

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 2_s2 17 . 27212956 14.92 C T LowGQX;LowGQ 1/1 2 SYNONYMOUS_CODING LOW SILENT None None None None None None FLOT2|0.369438221|22.75%

GNA11

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 2_s2 19 . 3110220 9.27 G A LowGQX 0/1 4 SYNONYMOUS_CODING LOW SILENT None None None None None None GNA11|0.177158736|39.4%

GRIN2B

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 2_s2 12 rs1805246
dbSNP Clinvar
13715954 65362.06 G A PASS 0/1 4986 SYNONYMOUS_CODING LOW SILENT 0.03674 0.03674 0.02783 None None None None None None GRIN2B|0.628804111|10.82%
View 2_s2 12 rs1806201
dbSNP Clinvar
13717508 63454.32 G A PASS 0/1 4997 SYNONYMOUS_CODING LOW SILENT 0.30332 0.30330 0.21782 None None None None None None GRIN2B|0.628804111|10.82%
View 2_s2 12 rs7301328
dbSNP Clinvar
14018777 162498.01 G C PASS 1/1 4988 SYNONYMOUS_CODING LOW SILENT 0.44149 0.44150 0.43103 None None None None None None GRIN2B|0.628804111|10.82%

GYLTL1B

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 2_s2 11 rs939105
dbSNP Clinvar
45949534 102.28 C T LowGQX;LowGQ 1/1 6 SYNONYMOUS_CODING LOW SILENT 0.58427 0.58430 0.27484 None None None None None None GYLTL1B|0.123922139|46.83%
View 2_s2 11 rs199608629
dbSNP Clinvar
45949752 49.99 C T LowGQX;LowGQ 1/1 2 SYNONYMOUS_CODING LOW SILENT 0.00020 0.00020 0.00015 None None None None None None GYLTL1B|0.123922139|46.83%

KCNJ12

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 2_s2 17 rs1657745
dbSNP Clinvar
21319785 11.55 C T LowGQX;LowGQ 1/1 1 SYNONYMOUS_CODING LOW SILENT None None None None None None KCNJ12|0.437556296|18.82%
View 2_s2 17 rs1612176
dbSNP Clinvar
21319767 10.43 C T LowGQX;LowGQ 1/1 1 SYNONYMOUS_CODING LOW SILENT None None None None None None KCNJ12|0.437556296|18.82%
View 2_s2 17 rs2917720
dbSNP Clinvar
21319860 7.08 C T LowGQX;LowGQ 1/1 1 SYNONYMOUS_CODING LOW SILENT None None None None None None KCNJ12|0.437556296|18.82%

KY

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 2_s2 3 rs2293293
dbSNP Clinvar
134322742 47.79 A G LowGQX;LowGQ 1/1 2 SYNONYMOUS_CODING LOW SILENT 0.68411 0.68410 0.38645 None None None None None None EPHB1|0.895849535|3.5%,KY|0.143094009|43.97%
View 2_s2 3 rs4955535
dbSNP Clinvar
134323156 54.17 A G LowGQX;LowGQ 1/1 3 SYNONYMOUS_CODING LOW SILENT 0.99601 0.99600 0.00369 None None None None None None EPHB1|0.895849535|3.5%,KY|0.143094009|43.97%

LAMA4

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 2_s2 6 rs2072021
dbSNP Clinvar
112512905 182.17 G A PASS 0/1 22 SYNONYMOUS_CODING LOW SILENT 0.31689 0.31690 0.25750 None None None None None None LAMA4|0.213176516|35.21%

LRRC32

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 2_s2 11 rs3740778
dbSNP Clinvar
76372418 414.71 T C PASS 1/1 20 SYNONYMOUS_CODING LOW SILENT 0.88019 0.88020 0.09627 None None None None None None LRRC32|0.03600055|67.12%
View 2_s2 11 rs3740779
dbSNP Clinvar
76372052 120.41 A G LowGQ 0/1 7 SYNONYMOUS_CODING LOW SILENT 0.62540 0.62540 0.37539 None None None None None None LRRC32|0.03600055|67.12%

LTBP2

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 2_s2 14 rs862031
dbSNP Clinvar
74991855 1403.03 A G PASS 1/1 53 SYNONYMOUS_CODING LOW SILENT 0.72824 0.72820 0.28618 None None None None None None LTBP2|0.184719306|38.39%

MUC6

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 2_s2 11 rs537530758
dbSNP Clinvar
1016756 14.92 G A LowGQX;LowGQ 1/1 2 SYNONYMOUS_CODING LOW SILENT 0.00260 0.00260 None None None None None None MUC6|0.00166044|92.04%

MYLK2

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 2_s2 20 rs41293106
dbSNP Clinvar
30412101 70.54 C T PASS 0/1 9 SYNONYMOUS_CODING LOW SILENT 0.00599 0.00599 0.01438 None None None None None None MYLK2|0.064867088|58.68%

NKAIN4

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 2_s2 20 rs927081
dbSNP Clinvar
61881296 73.03 A G PASS 0/1 10 SYNONYMOUS_CODING LOW SILENT 0.66254 0.66250 0.41389 None None None None None None NKAIN4|0.01137568|79.72%

NTRK3

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 2_s2 15 rs2229910
dbSNP Clinvar
88576185 11.01 G C LowGQX;LowGQ 1/1 1 SYNONYMOUS_CODING LOW SILENT 0.00160 0.35000 0.37192 None None None None None None NTRK3|0.77615869|6.42%

OR4D5

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 2_s2 11 . 123811110 114.95 C A PASS 0/1 10 SYNONYMOUS_CODING LOW SILENT None None None None None None OR4D5|0.054444971|61.36%
View 2_s2 11 . 123811118 992.04 C T PASS 0/1 45 SYNONYMOUS_CODING LOW SILENT None None None None None None OR4D5|0.054444971|61.36%

OR6T1

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 2_s2 11 . 123814426 337.84 T G LowGQ 1/1 14 SYNONYMOUS_CODING LOW SILENT None None None None None None OR6T1|0.005666933|85.02%
View 2_s2 11 rs7130003
dbSNP Clinvar
123813940 4089.16 G C PASS 0/1 301 SYNONYMOUS_CODING LOW SILENT 0.26318 0.26320 0.25735 None None None None None None OR6T1|0.005666933|85.02%
View 2_s2 11 rs7129884
dbSNP Clinvar
123813823 4808.62 G A PASS 0/1 319 SYNONYMOUS_CODING LOW SILENT 0.26278 0.26280 0.25727 None None None None None None OR6T1|0.005666933|85.02%

PCNXL4

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 2_s2 14 rs150687
dbSNP Clinvar
60581935 11.01 C T LowGQX;LowGQ 1/1 1 SYNONYMOUS_CODING LOW SILENT 0.81050 0.81050 0.14343 None None None None None None PCNXL4|0.137810301|44.72%
View 2_s2 14 rs219314
dbSNP Clinvar
60581863 11.55 G A LowGQX;LowGQ 1/1 1 SYNONYMOUS_CODING LOW SILENT 0.69229 0.69230 0.22213 None None None None None None PCNXL4|0.137810301|44.72%

PI4KB

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 2_s2 1 rs1056847
dbSNP Clinvar
151288172 7.78 G A LowGQX;LowGQ 1/1 1 SYNONYMOUS_CODING LOW SILENT 0.50959 0.50960 0.45464 None None None None None None PI4KB|0.485367384|16.51%

PROZ

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 2_s2 13 rs564081
dbSNP Clinvar
113818900 9.8 A G LowGQX;LowGQ 1/1 2 SYNONYMOUS_CODING LOW SILENT 0.94669 0.94670 0.05390 None None None None None None PROZ|0.002511319|89.67%

PRSS1

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 2_s2 7 rs779260304
dbSNP Clinvar
142457365 54.71 G T LowGQX;LowGQ 1/1 3 SYNONYMOUS_CODING LOW SILENT None None None None None None PRSS1|0.013065246|78.46%
View 2_s2 7 rs749968829
dbSNP Clinvar
142457347 54.76 C T LowGQX;LowGQ 1/1 3 SYNONYMOUS_CODING LOW SILENT None None None None None None PRSS1|0.013065246|78.46%

RFTN1

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 2_s2 3 rs690241
dbSNP Clinvar
16358584 91.66 T C LowGQX;LowGQ 1/1 3 SYNONYMOUS_CODING LOW SILENT 0.57468 0.57470 0.39459 None None None None None None OXNAD1|0.045765173|63.97%,RFTN1|0.054972041|61.2%

SCTR

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 2_s2 2 rs1126839
dbSNP Clinvar
120199140 8.47 A G LowGQX;LowGQ 1/1 1 SYNONYMOUS_CODING LOW SILENT 0.87101 0.87100 0.14009 None None None None None None SCTR|0.120041635|47.43%

SEC14L5

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 2_s2 16 rs2012649
dbSNP Clinvar
5064917 11.01 C T LowGQX;LowGQ 1/1 1 SYNONYMOUS_CODING LOW SILENT 0.15316 0.15320 0.19283 None None None None None None SEC14L5|0.039278315|66.01%

SIGLEC1

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 2_s2 20 rs673114
dbSNP Clinvar
3677736 8.47 T G LowGQX;LowGQ 1/1 1 SYNONYMOUS_CODING LOW SILENT 0.71765 0.71770 0.33736 None None None None None None SIGLEC1|0.012024255|79.23%

STK11IP

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 2_s2 2 . 220472905 7.78 A G LowGQX;LowGQ 1/1 2 SYNONYMOUS_CODING LOW SILENT None None None None None None STK11IP|0.024101698|72.16%

TRIM2

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 2_s2 4 rs893805
dbSNP Clinvar
154216710 49.99 G A LowGQX;LowGQ 1/1 2 SYNONYMOUS_CODING LOW SILENT 0.45527 0.45530 0.47025 None None None None None None TRIM2|0.383572824|21.81%

UBQLN3

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 2_s2 11 rs186434
dbSNP Clinvar
5529865 14.92 G A LowGQX;LowGQ 1/1 2 SYNONYMOUS_CODING LOW SILENT 0.98622 0.98620 0.01077 None None None None None None HBG2|0.024133976|72.16%,UBQLN3|0.055861295|60.94%

ULK1

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 2_s2 12 rs11616018
dbSNP Clinvar
132396603 11.55 C T LowGQX;LowGQ 1/1 1 SYNONYMOUS_CODING LOW SILENT 0.55172 0.55170 0.33049 None None None None None None ULK1|0.076117554|56.04%

URGCP

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 2_s2 7 . 43918657 14.92 C G LowGQX;LowGQ 1/1 2 SYNONYMOUS_CODING LOW SILENT None None None None None None URGCP-MRPS24|0.050302427|62.56%,URGCP|0.029308265|69.71%
View 2_s2 7 . 43916401 9.3 G T LowGQX 0/1 3 SYNONYMOUS_CODING LOW SILENT None None None None None None URGCP-MRPS24|0.050302427|62.56%,URGCP|0.029308265|69.71%
View 2_s2 7 rs2232105
dbSNP Clinvar
43917013 3969.69 G A PASS 1/1 123 SYNONYMOUS_CODING LOW SILENT 0.49241 0.49240 0.42059 None None None None None None URGCP-MRPS24|0.050302427|62.56%,URGCP|0.029308265|69.71%
View 2_s2 7 rs2232103
dbSNP Clinvar
43917274 3364.35 A G PASS 1/1 111 SYNONYMOUS_CODING LOW SILENT 0.74461 0.74460 0.27669 None None None None None None URGCP-MRPS24|0.050302427|62.56%,URGCP|0.029308265|69.71%

WDFY4

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 2_s2 10 . 49951555 11.01 C T LowGQX;LowGQ 1/1 1 SYNONYMOUS_CODING LOW SILENT None None None None None None WDFY4|0.061116122|59.55%

ZFP57

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 2_s2 6 . 29640988 44.33 G T LowGQ 0/1 4 SYNONYMOUS_CODING LOW SILENT None None None None None None ZFP57|0.001940866|91.13%

ZXDB

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 2_s2 X rs1057328
dbSNP Clinvar
57619648 51.22 G T LowGQX;LowGQ 1/1 2 SYNONYMOUS_CODING LOW SILENT 0.00397 0.00397 0.00303 None None None None None None ZXDB|0.016324584|76.26%
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 2_s2 20 . 26188913 7.78 G A LowGQX;LowGQ 1/1 1 MOTIF[MA0062.1:Gabp] LOW None None None None None None None
View 2_s2 20 . 26188909 7.78 G A LowGQX;LowGQ 1/1 1 MOTIF[MA0062.1:Gabp] LOW None None None None None None None
View 2_s2 1 rs28372703
dbSNP Clinvar
112298378 2513.48 T C PASS 0/1 218 START_GAINED LOW 0.14457 0.14460 0.12739 None None None None None None FAM212B|0.028007694|70.41%,DDX20|0.302360625|27.47%
View 2_s2 1 . 112298313 1611.32 A T PASS 1/1 63 START_GAINED LOW None None None None None None FAM212B|0.028007694|70.41%,DDX20|0.302360625|27.47%
  • Page 1 of 1