Links from Gene
Items: 1 to 20 of 2393
1.
rs1491285102 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- 14:64470613
(GRCh38)
14:64937331
(GRCh37)
- Canonical SPDI:
- NC_000014.9:64470609:AGAGA:AGA
- Gene:
- ZBTB25 (Varview), AKAP5 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AGA=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000546/1
(Korea1K)
- HGVS:
2.
rs1490934938 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 14:64474639
(GRCh38)
14:64941357
(GRCh37)
- Canonical SPDI:
- NC_000014.9:64474638:T:C
- Gene:
- ZBTB25 (Varview), AKAP5 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,500B_downstream_variant,intron_variant,downstream_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:
3.
rs1490514767 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 14:64466235
(GRCh38)
14:64932953
(GRCh37)
- Canonical SPDI:
- NC_000014.9:64466234:A:T
- Gene:
- ZBTB25 (Varview), AKAP5 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
4.
rs1489830794 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:64473545
(GRCh38)
14:64940263
(GRCh37)
- Canonical SPDI:
- NC_000014.9:64473544:C:T
- Gene:
- ZBTB25 (Varview), AKAP5 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000224/1
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
5.
rs1489701377 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 14:64468026
(GRCh38)
14:64934744
(GRCh37)
- Canonical SPDI:
- NC_000014.9:64468025:T:C
- Gene:
- ZBTB25 (Varview), AKAP5 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
6.
rs1489576172 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 14:64464178
(GRCh38)
14:64930896
(GRCh37)
- Canonical SPDI:
- NC_000014.9:64464177:A:G
- Gene:
- ZBTB25 (Varview), AKAP5 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
7.
rs1489004886 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:64464157
(GRCh38)
14:64930875
(GRCh37)
- Canonical SPDI:
- NC_000014.9:64464156:C:T
- Gene:
- ZBTB25 (Varview), AKAP5 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000011/3
(TOPMED)
- HGVS:
8.
rs1488737522 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:64471842
(GRCh38)
14:64938560
(GRCh37)
- Canonical SPDI:
- NC_000014.9:64471841:G:A
- Gene:
- ZBTB25 (Varview), AKAP5 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000015/4
(TOPMED)
A=0.000021/3
(GnomAD)
- HGVS:
9.
rs1488595203 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 14:64463749
(GRCh38)
14:64930467
(GRCh37)
- Canonical SPDI:
- NC_000014.9:64463748:A:T
- Gene:
- ZBTB25 (Varview), AKAP5 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
10.
rs1488375991 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 14:64471671
(GRCh38)
14:64938389
(GRCh37)
- Canonical SPDI:
- NC_000014.9:64471670:T:C
- Gene:
- ZBTB25 (Varview), AKAP5 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000264/4
(
ALFA)
C=0.000021/3
(GnomAD)
C=0.000893/4
(Estonian)
- HGVS:
11.
rs1487644346 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:64465669
(GRCh38)
14:64932387
(GRCh37)
- Canonical SPDI:
- NC_000014.9:64465668:G:A
- Gene:
- ZBTB25 (Varview), AKAP5 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000019/5
(TOPMED)
A=0.000021/3
(GnomAD)
- HGVS:
12.
rs1487408025 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 14:64464649
(GRCh38)
14:64931367
(GRCh37)
- Canonical SPDI:
- NC_000014.9:64464648:T:C
- Gene:
- ZBTB25 (Varview), AKAP5 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
13.
rs1487293450 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:64468019
(GRCh38)
14:64934737
(GRCh37)
- Canonical SPDI:
- NC_000014.9:64468018:G:A
- Gene:
- ZBTB25 (Varview), AKAP5 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000071/1
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
14.
rs1487137640 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CATTTCTAACTTCATCCATA>-
[Show Flanks]
- Chromosome:
- 14:64473550
(GRCh38)
14:64940268
(GRCh37)
- Canonical SPDI:
- NC_000014.9:64473535:TAACTTCATCCATACATTTCTAACTTCATCCATA:TAACTTCATCCATA
- Gene:
- ZBTB25 (Varview), AKAP5 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TAACTTCATCCATA=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000008/2
(TOPMED)
- HGVS:
15.
rs1486806151 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 14:64471990
(GRCh38)
14:64938708
(GRCh37)
- Canonical SPDI:
- NC_000014.9:64471989:T:A,NC_000014.9:64471989:T:C
- Gene:
- ZBTB25 (Varview), AKAP5 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
16.
rs1485817201 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:64471404
(GRCh38)
14:64938122
(GRCh37)
- Canonical SPDI:
- NC_000014.9:64471403:G:A
- Gene:
- ZBTB25 (Varview), AKAP5 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000029/4
(GnomAD)
A=0.00006/16
(TOPMED)
- HGVS:
17.
rs1485785503 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:64470567
(GRCh38)
14:64937285
(GRCh37)
- Canonical SPDI:
- NC_000014.9:64470566:G:A
- Gene:
- ZBTB25 (Varview), AKAP5 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000008/1
(GnomAD)
- HGVS:
18.
rs1485770411 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C,T
[Show Flanks]
- Chromosome:
- 14:64465142
(GRCh38)
14:64931860
(GRCh37)
- Canonical SPDI:
- NC_000014.9:64465141:G:A,NC_000014.9:64465141:G:C,NC_000014.9:64465141:G:T
- Gene:
- ZBTB25 (Varview), AKAP5 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000014.9:g.64465142G>A, NC_000014.9:g.64465142G>C, NC_000014.9:g.64465142G>T, NC_000014.8:g.64931860G>A, NC_000014.8:g.64931860G>C, NC_000014.8:g.64931860G>T, NG_012450.2:g.82102G>A, NG_012450.2:g.82102G>C, NG_012450.2:g.82102G>T, NG_033983.1:g.4644G>A, NG_033983.1:g.4644G>C, NG_033983.1:g.4644G>T
19.
rs1485724582 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TCA
[Show Flanks]
- Chromosome:
- 14:64468174
(GRCh38)
14:64934893
(GRCh37)
- Canonical SPDI:
- NC_000014.9:64468174:TCATCA:TCATCATCA
- Gene:
- ZBTB25 (Varview), AKAP5 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,5_prime_UTR_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TCATCATCA=0./0
(
ALFA)
TCA=0.000011/3
(TOPMED)
- HGVS:
20.
rs1485628798 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 14:64472927
(GRCh38)
14:64939645
(GRCh37)
- Canonical SPDI:
- NC_000014.9:64472926:T:C
- Gene:
- ZBTB25 (Varview), AKAP5 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.000071/1
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS: