Links from Gene
Items: 1 to 20 of 1293
1.
rs1491270699 has merged into rs1482003579 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- 13:75237456
(GRCh38)
13:75811592
(GRCh37)
- Canonical SPDI:
- NC_000013.11:75237452:AGAGA:AGA
- Gene:
- CTAGE11P (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AGA=0./0
(
ALFA)
-=0.000034/9
(TOPMED)
- HGVS:
2.
rs1490923863 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 13:75241408
(GRCh38)
13:75815544
(GRCh37)
- Canonical SPDI:
- NC_000013.11:75241407:T:C,NC_000013.11:75241407:T:G
- Gene:
- CTAGE11P (Varview), LINC01078 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000014/2
(GnomAD)
G=0.000015/4
(TOPMED)
C=0.000035/1
(TOMMO)
- HGVS:
3.
rs1490436294 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 13:75241761
(GRCh38)
13:75815897
(GRCh37)
- Canonical SPDI:
- NC_000013.11:75241760:G:A,NC_000013.11:75241760:G:T
- Gene:
- CTAGE11P (Varview), LINC01078 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
T=0.000035/1
(TOMMO)
- HGVS:
4.
rs1489237484 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 13:75238540
(GRCh38)
13:75812676
(GRCh37)
- Canonical SPDI:
- NC_000013.11:75238539:C:A
- Gene:
- CTAGE11P (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
5.
rs1488784062 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 13:75240868
(GRCh38)
13:75815004
(GRCh37)
- Canonical SPDI:
- NC_000013.11:75240867:A:G
- Gene:
- CTAGE11P (Varview), LINC01078 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_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:
6.
rs1488530340 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 13:75239445
(GRCh38)
13:75813581
(GRCh37)
- Canonical SPDI:
- NC_000013.11:75239444:C:T
- Gene:
- CTAGE11P (Varview), LINC01078 (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=0.000011/3
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
8.
rs1486662208 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 13:75242172
(GRCh38)
13:75816308
(GRCh37)
- Canonical SPDI:
- NC_000013.11:75242171:G:A
- Gene:
- CTAGE11P (Varview), LINC01078 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000214/3
(
ALFA)
A=0.000035/1
(TOMMO)
A=0.000042/11
(TOPMED)
A=0.000079/11
(GnomAD)
A=0.000156/1
(1000Genomes)
A=0.000546/1
(Korea1K)
- HGVS:
9.
rs1486634331 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 13:75237617
(GRCh38)
13:75811753
(GRCh37)
- Canonical SPDI:
- NC_000013.11:75237616:C:G
- Gene:
- CTAGE11P (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_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:
10.
rs1486602282 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 13:75238711
(GRCh38)
13:75812847
(GRCh37)
- Canonical SPDI:
- NC_000013.11:75238710:G:C
- Gene:
- CTAGE11P (Varview), LINC01078 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
11.
rs1485961461 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 13:75240603
(GRCh38)
13:75814739
(GRCh37)
- Canonical SPDI:
- NC_000013.11:75240602:T:C
- Gene:
- CTAGE11P (Varview), LINC01078 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000528/8
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000057/8
(GnomAD)
- HGVS:
14.
rs1485267946 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 13:75238488
(GRCh38)
13:75812624
(GRCh37)
- Canonical SPDI:
- NC_000013.11:75238487:G:A
- Gene:
- CTAGE11P (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000071/1
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
15.
rs1484645577 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 13:75239684
(GRCh38)
13:75813820
(GRCh37)
- Canonical SPDI:
- NC_000013.11:75239683:C:A
- Gene:
- CTAGE11P (Varview), LINC01078 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
16.
rs1483690817 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 13:75240537
(GRCh38)
13:75814674
(GRCh37)
- Canonical SPDI:
- NC_000013.11:75240537:CCC:CCCC
- Gene:
- CTAGE11P (Varview), LINC01078 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CCCC=0./0
(
ALFA)
C=0.000014/2
(GnomAD)
C=0.000015/4
(TOPMED)
- HGVS:
17.
rs1483314936 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 13:75241995
(GRCh38)
13:75816131
(GRCh37)
- Canonical SPDI:
- NC_000013.11:75241994:G:A
- Gene:
- CTAGE11P (Varview), LINC01078 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000038/10
(TOPMED)
A=0.000043/6
(GnomAD)
- HGVS:
18.
rs1482003579 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- 13:75237456
(GRCh38)
13:75811592
(GRCh37)
- Canonical SPDI:
- NC_000013.11:75237452:AGAGA:AGA
- Gene:
- CTAGE11P (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AGA=0./0
(
ALFA)
-=0.000034/9
(TOPMED)
- HGVS:
19.
rs1480712497 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 13:75241150
(GRCh38)
13:75815286
(GRCh37)
- Canonical SPDI:
- NC_000013.11:75241149:A:T
- Gene:
- CTAGE11P (Varview), LINC01078 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
20.
rs1479943797 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 13:75238203
(GRCh38)
13:75812339
(GRCh37)
- Canonical SPDI:
- NC_000013.11:75238202:G:A,NC_000013.11:75238202:G:T
- Gene:
- CTAGE11P (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000637/11
(TOMMO)
- HGVS: