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+ Genes 5

Genes:
APIP, ARMCX4, CCT5, NTF4, PAPOLA,

+ Genes associated with diseases 2

Genes at Omim

CCT5, NTF4,
CCT5 Neuropathy, hereditary sensory, with spastic paraplegia, 256840 (3)
NTF4 Glaucoma 1, open angle, 1O, 613100 (3)

Genes at Clinical Genomics Database

CCT5, NTF4,
CCT5 Neuropathy, hereditary sensory, with spastic paraplegia
NTF4 Glaucoma 1, open angle, O

Genes at HGMD

Summary

Number of Variants: 50
Number of Genes: 5

Export to: CSV
  • Page 1 of 1

APIP
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 15ac02301_s1 genome 11 rs2956114
dbSNP Clinvar 		34937813 460.92 G A PASS 0/1 45 START_GAINED LOW None 0.43470 0.43470 0.31670 0.02 0.01 None None None None None None APIP|0.209674362|35.61%,PDHX|0.779810523|6.33%

ARMCX4
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 15ac02301_s1 genome X rs963618
dbSNP Clinvar 		100743037 9.8 C T LowGQ;LowGQX;SB 1/1 1 START_GAINED LOW None 0.65987 0.65990 None None None None None None ARMCX4|0.006015436|84.57%

CCT5
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 15ac02301_s1 genome 5 rs2578618
dbSNP Clinvar 		10250443 1721.71 T C PASS 1/1 64 START_GAINED LOW None 0.68530 0.68530 0.28195 0.00 None None None None None None CCT5|0.365250197|23.05%

NTF4
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 15ac02301_s1 genome 19 . 49565210 11.13 G C LowGQX;LowQD;SB 0/1 11 START_GAINED LOW None 0.36 0.00 None None None None None None NTF4|0.152358851|42.63%

PAPOLA
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 15ac02301_s1 genome 14 . 96968755 14.92 G T LowGQ;LowGQX 1/1 2 START_GAINED LOW None 0.00 None None None None None None PAPOLA|0.712974411|8.19%
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 15ac02301_s1 genome 1 rs28372703
dbSNP Clinvar 		112298378 2744.89 T C PASS 0/1 200 START_GAINED LOW None 0.14457 0.14460 0.12739 None None None None None None FAM212B|0.028007694|70.41%,DDX20|0.302360625|27.47%
View 15ac02301_s1 genome 1 rs856450
dbSNP Clinvar 		145209366 18.64 A G LowGQX;LowQD;SB 0/1 127 START_GAINED LOW None None None None None None None NOTCH2NL|0.415307735|19.86%
View 15ac02301_s1 genome 1 rs12406197
dbSNP Clinvar 		179545050 940.31 C A SB 1/1 25 START_GAINED LOW None 0.18331 0.18330 0.19314 None None None None None None NPHS2|0.145330109|43.66%
View 15ac02301_s1 genome 1 rs12727981
dbSNP Clinvar 		240255203 3.16 G T LowGQX;LowQD;SB 0/1 4 START_GAINED LOW None 0.33327 0.33330 None None None None None None FMN2|0.565952775|13.15%
View 15ac02301_s1 genome 2 rs202009631
dbSNP Clinvar 		90259760 243.13 A T LowQD;SB 0/1 164 START_GAINED LOW None None None None None None None None
View 15ac02301_s1 genome 3 rs2607775
dbSNP Clinvar 		14220095 2784.69 C G PASS 1/1 112 START_GAINED LOW None 0.32788 0.32790 0.43468 None None None None None None XPC|0.047964422|63.33%,LSM3|0.569845277|13%
View 15ac02301_s1 genome 3 . 46449155 4.26 A T LowGQX;LowQD;SB 0/1 65 START_GAINED LOW None None None None None None None CCRL2|0.000417703|98.85%
View 15ac02301_s1 genome 1 rs10917413
dbSNP Clinvar 		24018277 1906.83 C G PASS 1/1 70 START_GAINED LOW None 0.97684 0.97680 0.01615 None None None None None None RPL11|0.770814273|6.52%
View 15ac02301_s1 genome 7 rs111653022
dbSNP Clinvar 		26386046 1137.59 C T PASS 0/1 132 START_GAINED LOW None 0.00120 0.00120 0.00454 None None None None None None SNX10|0.25272682|31.31%
View 15ac02301_s1 genome 9 . 139333908 4.97 C A LowGQX;LowQD;SB 0/1 3 START_GAINED LOW None None None None None None None INPP5E|0.014755828|77.32%
View 15ac02301_s1 genome 9 . 140122728 4.97 G T LowGQX;SB 0/1 2 START_GAINED LOW None None None None None None None RNF224|0.008908245|81.74%
View 15ac02301_s1 genome 10 rs7919803
dbSNP Clinvar 		27444328 1095.7 C A PASS 1/1 36 START_GAINED LOW None 0.50539 0.50540 0.16771 None None None None None None MASTL|0.148437905|43.23%
View 15ac02301_s1 genome 19 rs17002013
dbSNP Clinvar 		9251220 9.8 C T LowGQ;LowGQX;SB 1/1 2 START_GAINED LOW None 0.21066 0.21070 None None None None None None ZNF317|0.004808185|86.09%
View 15ac02301_s1 genome 19 rs20579
dbSNP Clinvar 		48668830 1192.57 G A PASS 0/1 86 START_GAINED LOW None 0.17312 0.17310 0.18445 None None None None None None LIG1|0.151237041|42.8%
View 15ac02301_s1 genome 4 rs4145515
dbSNP Clinvar 		190862155 1498.92 T G PASS 0/1 132 START_GAINED LOW None 0.26877 0.26880 0.29494 None None None None None None FRG1|0.098149242|51.5%
View 15ac02301_s1 genome 1 rs11547138
dbSNP Clinvar 		39457016 9.8 C T LowGQ;LowGQX;SB 1/1 1 START_GAINED LOW None 0.15256 0.15260 None None None None None None AKIRIN1|0.224041938|33.95%
View 15ac02301_s1 genome 1 rs2307130
dbSNP Clinvar 		100316589 468.4 A G PASS 0/1 44 START_GAINED LOW None 0.42712 0.42710 0.41573 None None None None None None AGL|0.644094308|10.32%
View 15ac02301_s1 genome 11 rs11517718
dbSNP Clinvar 		8693405 9.8 G A LowGQ;LowGQX;SB 1/1 1 START_GAINED LOW None 0.14816 0.49000 None None None None None None TRIM66|0.134931954|45.11%
View 15ac02301_s1 genome 11 rs1944612
dbSNP Clinvar 		74862391 1898.29 A G PASS 1/1 69 START_GAINED LOW None 0.97584 0.97580 0.00054 None None None None None None SLCO2B1|0.05859888|60.24%
View 15ac02301_s1 genome 12 . 49463586 9.8 G T LowGQ;LowGQX;SB 1/1 1 START_GAINED LOW None None None None None None None RHEBL1|0.306464355|27.13%
View 15ac02301_s1 genome 12 rs1131017
dbSNP Clinvar 		56435929 2772.7 C G PASS 1/1 90 START_GAINED LOW None 0.55591 0.55590 0.46494 None None None None None None RPS26|0.132252327|45.57%
View 15ac02301_s1 genome 12 rs2291855
dbSNP Clinvar 		57410191 1174.6 G A PASS 0/1 110 START_GAINED LOW None 0.12101 0.12100 None None None None None None TAC3|0.072681447|56.85%
View 15ac02301_s1 genome 13 rs3825528
dbSNP Clinvar 		52602919 2911.62 A C PASS 0/1 231 START_GAINED LOW None 0.36841 0.36840 0.40365 None None None None None None ALG11|0.150634344|42.89%,UTP14C|0.006764409|83.75%
View 15ac02301_s1 genome 16 . 58060240 9.8 C A LowGQ;LowGQX;SB 1/1 1 START_GAINED LOW None None None None None None None MMP15|0.030787011|69.06%
View 15ac02301_s1 genome 4 . 178881985 14.92 C G LowGQ;LowGQX 1/1 2 START_GAINED LOW None None None None None None None None
View 15ac02301_s1 genome 19 rs11084490
dbSNP Clinvar 		57742472 681.63 G C PASS 1/1 20 START_GAINED LOW None 0.86761 0.86760 None None None None None None AURKC|0.010911185|80.15%
View 15ac02301_s1 genome 19 rs58264281
dbSNP Clinvar 		57742489 730.1 C T PASS 1/1 22 START_GAINED LOW None 0.76777 0.76780 None None None None None None AURKC|0.010911185|80.15%
View 15ac02301_s1 genome 22 rs7751
dbSNP Clinvar 		18111431 14.92 T C LowGQ;LowGQX 1/1 2 START_GAINED LOW None 0.34285 0.34290 0.42380 None None None None None None ATP6V1E1|0.177631936|39.36%
View 15ac02301_s1 genome 22 rs373276997
dbSNP Clinvar 		18721456 156.58 G A SB 0/1 29 START_GAINED LOW None 0.14717 0.14720 None None None None None None None
View 15ac02301_s1 genome 22 rs201406625
dbSNP Clinvar 		18721464 336.37 A G LowGQ;LowGQX;SB 1/1 27 START_GAINED LOW None None None None None None None None
View 15ac02301_s1 genome X rs1264011
dbSNP Clinvar 		53449568 5136.52 G A PASS 1/1 159 START_GAINED LOW None 0.39841 0.39840 0.40604 None None None None None None SMC1A|0.539151883|14.23%
View 15ac02301_s1 genome 19 rs7252803
dbSNP Clinvar 		53875494 321.98 A T PASS 0/1 23 START_GAINED LOW None 0.01558 0.01558 None None None None None None ZNF525|0.001023223|95.29%
View 15ac02301_s1 genome 5 rs1042711
dbSNP Clinvar 		148206348 293.08 C T LowGQ;LowGQX;SB 1/1 28 START_GAINED LOW None 0.79313 0.79310 0.34436 None None None None None None ADRB2|0.766324239|6.71%
View 15ac02301_s1 genome 6 rs11576012
dbSNP Clinvar 		31795619 31.85 C T SB 0/1 3 START_GAINED LOW None 0.01098 0.01098 None None None None None None HSPA1B|0.40129839|20.68%
View 15ac02301_s1 genome 8 rs2294008
dbSNP Clinvar 		143761931 1204.62 C T PASS 0/1 94 START_GAINED LOW None 0.40515 0.40520 0.41872 None None None None None None PSCA|0.002544027|89.58%
View 15ac02301_s1 genome 10 rs11190600
dbSNP Clinvar 		102295658 577.86 T G PASS 0/1 86 START_GAINED LOW None None None None None None None HIF1AN|0.606273474|11.58%
View 15ac02301_s1 genome 10 rs79612842
dbSNP Clinvar 		127585113 14.91 C T LowGQ;LowGQX 1/1 2 START_GAINED LOW None None None None None None None FANK1|0.027790185|70.52%
View 15ac02301_s1 genome 12 . 121019172 4.97 C A LowGQX;LowQD;SB 0/1 3 START_GAINED LOW None None None None None None None POP5|0.265451764|30.23%
View 15ac02301_s1 genome 15 rs3743365
dbSNP Clinvar 		92937268 695.62 G T PASS 1/1 28 START_GAINED LOW None 0.57628 0.57630 0.25263 None None None None None None ST8SIA2|0.471581284|17.11%
View 15ac02301_s1 genome 15 rs3743364
dbSNP Clinvar 		92937276 780.49 C T PASS 1/1 28 START_GAINED LOW None 0.57328 0.57330 0.26005 None None None None None None ST8SIA2|0.471581284|17.11%
View 15ac02301_s1 genome 17 rs228758
dbSNP Clinvar 		42148205 331.03 C T SB 0/1 48 START_GAINED LOW None 0.32308 0.32310 None None None None None None G6PC3|0.143551325|43.93%
View 15ac02301_s1 genome 19 rs2571074
dbSNP Clinvar 		44871293 47.39 T C LowGQ;LowGQX 1/1 2 START_GAINED LOW None 0.09085 0.49160 None None None None None None ZNF112|0.007620458|82.95%
View 15ac02301_s1 genome 20 . 41818415 9.3 G A LowGQX 0/1 4 START_GAINED LOW None None None None None None None PTPRT|0.944095136|2.38%
View 15ac02301_s1 genome 5 rs778594
dbSNP Clinvar 		140027304 1174.47 T C PASS 0/1 96 START_GAINED LOW None 0.37760 0.37760 None None None None None None NDUFA2|0.105624342|50.11%,IK|0.556266248|13.47%
View 15ac02301_s1 genome 22 rs1061063
dbSNP Clinvar 		21213380 2539.25 C T PASS 1/1 83 START_GAINED LOW None 0.46386 0.46390 0.48199 None None None None None None PI4KA|0.213566628|35.17%,SNAP29|0.054406719|61.36%
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