Links from Gene
Items: 1 to 20 of 1000
1.
rs1488809585 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 9:124258272
(GRCh38)
9:127020551
(GRCh37)
- Canonical SPDI:
- NC_000009.12:124258271:G:A,NC_000009.12:124258271:G:C
- Gene:
- NEK6 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000009.12:g.124258272G>A, NC_000009.12:g.124258272G>C, NC_000009.11:g.127020551G>A, NC_000009.11:g.127020551G>C, XM_024447387.2:c.-197G>A, XM_024447387.2:c.-197G>C, NM_001166168.2:c.-119G>A, NM_001166168.2:c.-119G>C, NM_001166168.1:c.-119G>A, NM_001166168.1:c.-119G>C, XR_007061234.1:n.32G>A, XR_007061234.1:n.32G>C, XR_007061237.1:n.32G>A, XR_007061237.1:n.32G>C, XM_047422652.1:c.-362G>A, XM_047422652.1:c.-362G>C
2.
rs1488172586 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C,T
[Show Flanks]
- Chromosome:
- 9:124258209
(GRCh38)
9:127020488
(GRCh37)
- Canonical SPDI:
- NC_000009.12:124258208:G:A,NC_000009.12:124258208:G:C,NC_000009.12:124258208:G:T
- Gene:
- NEK6 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
T=0.00103/17
(TOMMO)
T=0.00291/7
(KOREAN)
- HGVS:
3.
rs1488068937 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 9:124260970
(GRCh38)
9:127023249
(GRCh37)
- Canonical SPDI:
- NC_000009.12:124260969:T:A
- Gene:
- NEK6 (Varview), LOC613206 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
- HGVS:
4.
rs1487603329 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 9:124258153
(GRCh38)
9:127020432
(GRCh37)
- Canonical SPDI:
- NC_000009.12:124258152:G:A,NC_000009.12:124258152:G:T
- Gene:
- NEK6 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
5.
rs1487176078 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 9:124258601
(GRCh38)
9:127020880
(GRCh37)
- Canonical SPDI:
- NC_000009.12:124258600:T:G
- Gene:
- NEK6 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_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.
rs1486806598 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 9:124258443
(GRCh38)
9:127020722
(GRCh37)
- Canonical SPDI:
- NC_000009.12:124258442:C:A,NC_000009.12:124258442:C:T
- Gene:
- NEK6 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
8.
rs1486560775 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:124260111
(GRCh38)
9:127022390
(GRCh37)
- Canonical SPDI:
- NC_000009.12:124260110:G:A
- Gene:
- NEK6 (Varview), LOC613206 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
9.
rs1486444229 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- A>-
[Show Flanks]
- Chromosome:
- 9:124260021
(GRCh38)
9:127022300
(GRCh37)
- Canonical SPDI:
- NC_000009.12:124260020:A:
- Gene:
- NEK6 (Varview), LOC613206 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000045/12
(TOPMED)
-=0.000068/7
(GnomAD)
- HGVS:
10.
rs1484812256 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- 9:124258739
(GRCh38)
9:127021018
(GRCh37)
- Canonical SPDI:
- NC_000009.12:124258738:CC:C
- Gene:
- NEK6 (Varview), LOC613206 (Varview)
- Functional Consequence:
- 500B_downstream_variant,genic_upstream_transcript_variant,downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CC=0./0
(
ALFA)
-=0.000011/3
(TOPMED)
-=0.000043/6
(GnomAD)
- HGVS:
11.
rs1483811026 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 9:124260840
(GRCh38)
9:127023119
(GRCh37)
- Canonical SPDI:
- NC_000009.12:124260839:T:C
- Gene:
- NEK6 (Varview), LOC613206 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
12.
rs1483445893 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:124261446
(GRCh38)
9:127023725
(GRCh37)
- Canonical SPDI:
- NC_000009.12:124261445:G:A
- Gene:
- NEK6 (Varview), LOC613206 (Varview), LOC124902268 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000026/7
(TOPMED)
A=0.000043/6
(GnomAD)
- HGVS:
13.
rs1483369830 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 9:124260373
(GRCh38)
9:127022652
(GRCh37)
- Canonical SPDI:
- NC_000009.12:124260372:G:T
- Gene:
- NEK6 (Varview), LOC613206 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.00003/8
(TOPMED)
T=0.000071/1
(TOMMO)
T=0.000342/1
(KOREAN)
- HGVS:
14.
rs1482757597 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 9:124263311
(GRCh38)
9:127025590
(GRCh37)
- Canonical SPDI:
- NC_000009.12:124263310:A:G
- Gene:
- NEK6 (Varview), LOC124902268 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
15.
rs1482241607 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 9:124262202
(GRCh38)
9:127024481
(GRCh37)
- Canonical SPDI:
- NC_000009.12:124262201:T:G
- Gene:
- NEK6 (Varview), LOC613206 (Varview), LOC124902268 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
16.
rs1481833260 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 9:124259928
(GRCh38)
9:127022207
(GRCh37)
- Canonical SPDI:
- NC_000009.12:124259927:A:G
- Gene:
- NEK6 (Varview), LOC613206 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000064/9
(GnomAD)
G=0.000068/18
(TOPMED)
- HGVS:
17.
rs1481807829 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:124261901
(GRCh38)
9:127024180
(GRCh37)
- Canonical SPDI:
- NC_000009.12:124261900:C:T
- Gene:
- NEK6 (Varview), LOC613206 (Varview), LOC124902268 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
18.
rs1481617958 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:124259027
(GRCh38)
9:127021306
(GRCh37)
- Canonical SPDI:
- NC_000009.12:124259026:G:A
- Gene:
- NEK6 (Varview), LOC613206 (Varview)
- Functional Consequence:
- 500B_downstream_variant,genic_upstream_transcript_variant,downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
A=0.000023/6
(TOPMED)
- HGVS:
20.
rs1480278183 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- 9:124261303
(GRCh38)
9:127023582
(GRCh37)
- Canonical SPDI:
- NC_000009.12:124261302:CCCC:CCC
- Gene:
- NEK6 (Varview), LOC613206 (Varview), LOC124902268 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CCC=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000531/9
(TOMMO)
- HGVS: