Links from Nucleotide
Items: 1 to 20 of 1391
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.
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:
3.
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:
4.
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:
5.
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:
6.
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:
7.
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:
8.
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:
9.
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:
10.
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:
11.
rs1485170862 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 14:64472570
(GRCh38)
14:64939288
(GRCh37)
- Canonical SPDI:
- NC_000014.9:64472569:A: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:
12.
rs1485139454 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:64471301
(GRCh38)
14:64938019
(GRCh37)
- Canonical SPDI:
- NC_000014.9:64471300: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=0.000071/1
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
13.
rs1485104030 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 14:64471756
(GRCh38)
14:64938474
(GRCh37)
- Canonical SPDI:
- NC_000014.9:64471755:G: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./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
14.
rs1483816724 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 14:64469492
(GRCh38)
14:64936210
(GRCh37)
- Canonical SPDI:
- NC_000014.9:64469491:T:C
- Gene:
- ZBTB25 (Varview), AKAP5 (Varview)
- Functional Consequence:
- coding_sequence_variant,genic_downstream_transcript_variant,intron_variant,synonymous_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
15.
rs1483648015 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:64472120
(GRCh38)
14:64938838
(GRCh37)
- Canonical SPDI:
- NC_000014.9:64472119:C:T
- 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:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
16.
rs1483636223 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:64474217
(GRCh38)
14:64940935
(GRCh37)
- Canonical SPDI:
- NC_000014.9:64474216:C:T
- 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:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000035/1
(TOMMO)
- HGVS:
17.
rs1483583732 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 14:64471172
(GRCh38)
14:64937890
(GRCh37)
- Canonical SPDI:
- NC_000014.9:64471171:A:T
- Gene:
- ZBTB25 (Varview), AKAP5 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
- Validated:
- by frequency
- MAF:
T=0.00021/6
(TOMMO)
- HGVS:
18.
rs1483269134 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 14:64469463
(GRCh38)
14:64936181
(GRCh37)
- Canonical SPDI:
- NC_000014.9:64469462:A:C
- Gene:
- ZBTB25 (Varview), AKAP5 (Varview)
- Functional Consequence:
- coding_sequence_variant,genic_downstream_transcript_variant,intron_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
19.
rs1482869116 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 14:64469318
(GRCh38)
14:64936036
(GRCh37)
- Canonical SPDI:
- NC_000014.9:64469317:T:A,NC_000014.9:64469317:T:C
- Gene:
- ZBTB25 (Varview), AKAP5 (Varview)
- Functional Consequence:
- synonymous_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
20.
rs1482568693 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 14:64468335
(GRCh38)
14:64935054
(GRCh37)
- Canonical SPDI:
- NC_000014.9:64468335:AAAA:AAAAA
- Gene:
- ZBTB25 (Varview), AKAP5 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,5_prime_UTR_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAA=0.000142/2
(
ALFA)
A=0.000072/19
(TOPMED)
A=0.000078/11
(GnomAD)
- HGVS: