Links from Gene
Items: 1 to 20 of 1431
1.
rs1489500086 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 13:52129400
(GRCh38)
13:52703536
(GRCh37)
- Canonical SPDI:
- NC_000013.11:52129399:G:A
- Gene:
- NEK5 (Varview), LOC101929657 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000071/1
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
2.
rs1488768157 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 13:52129988
(GRCh38)
13:52704124
(GRCh37)
- Canonical SPDI:
- NC_000013.11:52129987:G:A
- Gene:
- NEK5 (Varview), LOC101929657 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
- HGVS:
3.
rs1488734064 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CCGGGT>-
[Show Flanks]
- Chromosome:
- 13:52129074
(GRCh38)
13:52703210
(GRCh37)
- Canonical SPDI:
- NC_000013.11:52129072:TCCGGGT:T
- Gene:
- NEK5 (Varview), LOC101929657 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
4.
rs1487676590 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 13:52132271
(GRCh38)
13:52706407
(GRCh37)
- Canonical SPDI:
- NC_000013.11:52132270:G:A
- Gene:
- NEK3 (Varview), LOC101929657 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
5.
rs1486593249 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,T
[Show Flanks]
- Chromosome:
- 13:52131905
(GRCh38)
13:52706041
(GRCh37)
- Canonical SPDI:
- NC_000013.11:52131904:A:C,NC_000013.11:52131904:A:T
- Gene:
- LOC101929657 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000021/3
(GnomAD)
C=0.000156/1
(1000Genomes)
- HGVS:
6.
rs1486387547 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 13:52133141
(GRCh38)
13:52707277
(GRCh37)
- Canonical SPDI:
- NC_000013.11:52133140:A:G
- Gene:
- NEK3 (Varview), LOC101929657 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant,non_coding_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
7.
rs1486237080 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 13:52130235
(GRCh38)
13:52704371
(GRCh37)
- Canonical SPDI:
- NC_000013.11:52130234:C:T
- Gene:
- NEK5 (Varview), LOC101929657 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
T=0.000035/1
(TOMMO)
- HGVS:
8.
rs1484965194 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 13:52130349
(GRCh38)
13:52704485
(GRCh37)
- Canonical SPDI:
- NC_000013.11:52130348:A:G
- Gene:
- NEK5 (Varview), LOC101929657 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
9.
rs1484828606 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 13:52127608
(GRCh38)
13:52701744
(GRCh37)
- Canonical SPDI:
- NC_000013.11:52127607:T:C,NC_000013.11:52127607:T:G
- Gene:
- NEK5 (Varview), LOC101929657 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant,non_coding_transcript_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000004/1
(TOPMED)
C=0.002183/4
(Korea1K)
- HGVS:
NC_000013.11:g.52127608T>C, NC_000013.11:g.52127608T>G, NC_000013.10:g.52701744T>C, NC_000013.10:g.52701744T>G, XM_006719808.5:c.181A>G, XM_006719808.5:c.181A>C, XM_006719808.4:c.181A>G, XM_006719808.4:c.181A>C, XM_006719808.3:c.181A>G, XM_006719808.3:c.181A>C, XM_006719808.2:c.181A>G, XM_006719808.2:c.181A>C, XM_006719808.1:c.-36A>G, XM_006719808.1:c.-36A>C, XM_011535066.3:c.181A>G, XM_011535066.3:c.181A>C, XM_011535066.2:c.181A>G, XM_011535066.2:c.181A>C, XM_011535066.1:c.181A>G, XM_011535066.1:c.181A>C, XR_941574.3:n.306A>G, XR_941574.3:n.306A>C, XR_941574.2:n.209A>G, XR_941574.2:n.209A>C, XR_941574.1:n.223A>G, XR_941574.1:n.223A>C, NM_199289.3:c.-36A>G, NM_199289.3:c.-36A>C, NM_199289.2:c.-36A>G, NM_199289.2:c.-36A>C, NM_199289.1:c.-36A>G, NM_199289.1:c.-36A>C, XR_941575.3:n.306A>G, XR_941575.3:n.306A>C, XR_941575.2:n.207A>G, XR_941575.2:n.207A>C, XR_941575.1:n.222A>G, XR_941575.1:n.222A>C, XM_011535068.3:c.181A>G, XM_011535068.3:c.181A>C, XM_011535068.2:c.181A>G, XM_011535068.2:c.181A>C, XM_011535068.1:c.181A>G, XM_011535068.1:c.181A>C, XM_017020556.2:c.181A>G, XM_017020556.2:c.181A>C, XM_017020556.1:c.181A>G, XM_017020556.1:c.181A>C, XM_047430289.1:c.136A>G, XM_047430289.1:c.136A>C, XM_047430287.1:c.181A>G, XM_047430287.1:c.181A>C, XM_047430288.1:c.181A>G, XM_047430288.1:c.181A>C, XM_047430290.1:c.181A>G, XM_047430290.1:c.181A>C, XM_047430291.1:c.181A>G, XM_047430291.1:c.181A>C, NM_001365552.1:c.-36A>G, NM_001365552.1:c.-36A>C, XM_047430293.1:c.-36A>G, XM_047430293.1:c.-36A>C, XP_006719871.2:p.Lys61Glu, XP_006719871.2:p.Lys61Gln, XP_011533368.1:p.Lys61Glu, XP_011533368.1:p.Lys61Gln, XP_011533370.1:p.Lys61Glu, XP_011533370.1:p.Lys61Gln, XP_016876045.1:p.Lys61Glu, XP_016876045.1:p.Lys61Gln, XP_047286245.1:p.Lys46Glu, XP_047286245.1:p.Lys46Gln, XP_047286243.1:p.Lys61Glu, XP_047286243.1:p.Lys61Gln, XP_047286244.1:p.Lys61Glu, XP_047286244.1:p.Lys61Gln, XP_047286246.1:p.Lys61Glu, XP_047286246.1:p.Lys61Gln, XP_047286247.1:p.Lys61Glu, XP_047286247.1:p.Lys61Gln
10.
rs1484234991 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 13:52133178
(GRCh38)
13:52707314
(GRCh37)
- Canonical SPDI:
- NC_000013.11:52133177:C:T
- Gene:
- NEK3 (Varview), LOC101929657 (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant,downstream_transcript_variant,500B_downstream_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
12.
rs1483371361 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 13:52132796
(GRCh38)
13:52706932
(GRCh37)
- Canonical SPDI:
- NC_000013.11:52132795:C:A,NC_000013.11:52132795:C:T
- Gene:
- NEK3 (Varview), LOC101929657 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant,non_coding_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
NC_000013.11:g.52132796C>A, NC_000013.11:g.52132796C>T, NC_000013.10:g.52706932C>A, NC_000013.10:g.52706932C>T, NM_152720.3:c.*346G>T, NM_152720.3:c.*346G>A, NM_152720.2:c.*346G>T, NM_152720.2:c.*346G>A, NM_002498.3:c.*346G>T, NM_002498.3:c.*346G>A, NM_002498.2:c.*346G>T, NM_002498.2:c.*346G>A, NR_164641.1:n.1929G>T, NR_164641.1:n.1929G>A, NR_027415.1:n.2242G>T, NR_027415.1:n.2242G>A, NR_027415.2:n.2242G>T, NR_027415.2:n.2242G>A
13.
rs1482741811 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 13:52129232
(GRCh38)
13:52703368
(GRCh37)
- Canonical SPDI:
- NC_000013.11:52129231:C:T
- Gene:
- NEK5 (Varview), LOC101929657 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
14.
rs1481540685 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 13:52128276
(GRCh38)
13:52702412
(GRCh37)
- Canonical SPDI:
- NC_000013.11:52128275:A:T
- Gene:
- NEK5 (Varview), LOC101929657 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,synonymous_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
15.
rs1481427239 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 13:52131119
(GRCh38)
13:52705255
(GRCh37)
- Canonical SPDI:
- NC_000013.11:52131118:T:C
- Gene:
- LOC101929657 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
16.
rs1481223998 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 13:52128677
(GRCh38)
13:52702813
(GRCh37)
- Canonical SPDI:
- NC_000013.11:52128676:G:A
- Gene:
- NEK5 (Varview), LOC101929657 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
17.
rs1481191696 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 13:52127082
(GRCh38)
13:52701218
(GRCh37)
- Canonical SPDI:
- NC_000013.11:52127081:G:T
- Gene:
- NEK5 (Varview), LOC101929657 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
18.
rs1481162689 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 13:52127807
(GRCh38)
13:52701943
(GRCh37)
- Canonical SPDI:
- NC_000013.11:52127806:C:T
- Gene:
- NEK5 (Varview), LOC101929657 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
19.
rs1480295742 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 13:52127463
(GRCh38)
13:52701599
(GRCh37)
- Canonical SPDI:
- NC_000013.11:52127462:A:G
- Gene:
- NEK5 (Varview), LOC101929657 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(GnomAD_exomes)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
NC_000013.11:g.52127463A>G, NC_000013.10:g.52701599A>G, XM_006719808.5:c.236T>C, XM_006719808.4:c.236T>C, XM_006719808.3:c.236T>C, XM_006719808.2:c.236T>C, XM_006719808.1:c.20T>C, XM_011535066.3:c.236T>C, XM_011535066.2:c.236T>C, XM_011535066.1:c.236T>C, XR_941574.3:n.361T>C, XR_941574.2:n.264T>C, XR_941574.1:n.278T>C, NM_199289.3:c.20T>C, NM_199289.2:c.20T>C, NM_199289.1:c.20T>C, XR_941575.3:n.361T>C, XR_941575.2:n.262T>C, XR_941575.1:n.277T>C, XM_011535068.3:c.236T>C, XM_011535068.2:c.236T>C, XM_011535068.1:c.236T>C, XM_017020556.2:c.236T>C, XM_017020556.1:c.236T>C, XM_047430289.1:c.191T>C, XM_047430287.1:c.236T>C, XM_047430288.1:c.236T>C, XM_047430290.1:c.236T>C, XM_047430291.1:c.236T>C, NM_001365552.1:c.20T>C, XM_047430292.1:c.20T>C, XM_047430293.1:c.20T>C, XP_006719871.2:p.Ile79Thr, XP_011533368.1:p.Ile79Thr, NP_954983.1:p.Ile7Thr, XP_011533370.1:p.Ile79Thr, XP_016876045.1:p.Ile79Thr, XP_047286245.1:p.Ile64Thr, XP_047286243.1:p.Ile79Thr, XP_047286244.1:p.Ile79Thr, XP_047286246.1:p.Ile79Thr, XP_047286247.1:p.Ile79Thr, NP_001352481.1:p.Ile7Thr, XP_047286248.1:p.Ile7Thr, XP_047286249.1:p.Ile7Thr
20.
rs1479473710 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 13:52130093
(GRCh38)
13:52704229
(GRCh37)
- Canonical SPDI:
- NC_000013.11:52130092:T:C
- Gene:
- NEK5 (Varview), LOC101929657 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS: