Links from Gene
Items: 1 to 20 of 3050
2.
rs1491557476 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TGGGGTGTGTGTGTG,TGGTGTGTGTGTG,TGTGGTGTGTGTGTG,TGTGTGGTGTGTGTGTG
[Show Flanks]
- Chromosome:
- 22:48542138
(GRCh38)
22:48937951
(GRCh37)
- Canonical SPDI:
- NC_000022.11:48542138:GTGTGTGTGTG:GTGTGTGTGTGTGGGGTGTGTGTGTG,NC_000022.11:48542138:GTGTGTGTGTG:GTGTGTGTGTGTGGTGTGTGTGTG,NC_000022.11:48542138:GTGTGTGTGTG:GTGTGTGTGTGTGTGGTGTGTGTGTG,NC_000022.11:48542138:GTGTGTGTGTG:GTGTGTGTGTGTGTGTGGTGTGTGTGTG
- Gene:
- TAFA5 (Varview), LOC284933 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GTGTGTGTGTGTGTGTGGTGTGTGTGTG=0./0
(
ALFA)
GTGTGTGTGTGTGTG=0.00005/1
(TOMMO)
- HGVS:
3.
rs1491518523 has merged into rs1343061011 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TGTGTG>-,TG,TGTG,TGTGTGTG,TGTGTGTGGTGTGTGTGTGTG
[Show Flanks]
- Chromosome:
- 22:48542144
(GRCh38)
22:48937956
(GRCh37)
- Canonical SPDI:
- NC_000022.11:48542137:TGTGTGTGTGTG:TGTGTG,NC_000022.11:48542137:TGTGTGTGTGTG:TGTGTGTG,NC_000022.11:48542137:TGTGTGTGTGTG:TGTGTGTGTG,NC_000022.11:48542137:TGTGTGTGTGTG:TGTGTGTGTGTGTG,NC_000022.11:48542137:TGTGTGTGTGTG:TGTGTGTGTGTGTGGTGTGTGTGTGTG
- Gene:
- TAFA5 (Varview), LOC284933 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGTGTG=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
4.
rs1491515306 has merged into rs199651526 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GG>-,G,GGG
[Show Flanks]
- Chromosome:
- 22:48542279
(GRCh38)
22:48938091
(GRCh37)
- Canonical SPDI:
- NC_000022.11:48542274:GGGGGG:GGGG,NC_000022.11:48542274:GGGGGG:GGGGG,NC_000022.11:48542274:GGGGGG:GGGGGGG
- Gene:
- TAFA5 (Varview), LOC284933 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GGGGGGG=0./0
(
ALFA)
-=0.005/3
(NorthernSweden)
-=0.09813/489
(1000Genomes)
-=0.23352/425
(Korea1K)
- HGVS:
5.
rs1491270661 has merged into rs1555886629 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TGTG>-,TG,TGTGTG,TGTGTGGTGTGTGTGTGTG,TGTGTGGTGTGTGTGTGTGGTGTGTGTGTGTG,TGTGTGTG
[Show Flanks]
- Chromosome:
- 22:48542647
(GRCh38)
22:48938459
(GRCh37)
- Canonical SPDI:
- NC_000022.11:48542638:TGTGTGTGTGTG:TGTGTGTG,NC_000022.11:48542638:TGTGTGTGTGTG:TGTGTGTGTG,NC_000022.11:48542638:TGTGTGTGTGTG:TGTGTGTGTGTGTG,NC_000022.11:48542638:TGTGTGTGTGTG:TGTGTGTGTGTGTGGTGTGTGTGTGTG,NC_000022.11:48542638:TGTGTGTGTGTG:TGTGTGTGTGTGTGGTGTGTGTGTGTGGTGTGTGTGTGTG,NC_000022.11:48542638:TGTGTGTGTGTG:TGTGTGTGTGTGTGTG
- Gene:
- TAFA5 (Varview), LOC284933 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGTGTGTG=0./0
(
ALFA)
-=0.00042/6
(TOMMO)
- HGVS:
NC_000022.11:g.48542639TG[4], NC_000022.11:g.48542639TG[5], NC_000022.11:g.48542639TG[7], NC_000022.11:g.48542639_48542650TG[7]GT[6]G[1], NC_000022.11:g.48542639_48542650TG[7]GTGTGTGTGTGTG[2], NC_000022.11:g.48542639TG[8], NC_000022.10:g.48938451TG[4], NC_000022.10:g.48938451TG[5], NC_000022.10:g.48938451TG[7], NC_000022.10:g.48938451_48938462TG[7]GT[6]G[1], NC_000022.10:g.48938451_48938462TG[7]GTGTGTGTGTGTG[2], NC_000022.10:g.48938451TG[8]
6.
rs1491249010 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 22:48542096
(GRCh38)
22:48937908
(GRCh37)
- Canonical SPDI:
- NC_000022.11:48542095:AT:
- Gene:
- TAFA5 (Varview), LOC284933 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000017/2
(GnomAD)
- HGVS:
7.
rs1491202512 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GGGTGTGTGTG,GTGTGTGTG
[Show Flanks]
- Chromosome:
- 22:48542639
(GRCh38)
22:48938452
(GRCh37)
- Canonical SPDI:
- NC_000022.11:48542639:GTGTGTGTG:GTGTGTGTGGGGTGTGTGTG,NC_000022.11:48542639:GTGTGTGTG:GTGTGTGTGGTGTGTGTG
- Gene:
- TAFA5 (Varview), LOC284933 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GTGTGTGTGGTGTGTGTG=0./0
(
ALFA)
GTGTGTGTG=0.000004/1
(TOPMED)
GTGTGTGTG=0.00004/1
(GnomAD)
- HGVS:
8.
rs1491199795 has merged into rs147056871 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TGGTGTGTGTGTGTGTGGTGTGTGTG>-,TGGTGTGTGTG,TGGTGTGTGTGTGTGTGGTGTGTGTGTGTGTGGTGTGTGTG
[Show Flanks]
- Chromosome:
- 22:48542105
(GRCh38)
22:48937917
(GRCh37)
- Canonical SPDI:
- NC_000022.11:48542096:TGTGTGTGTGGTGTGTGTGTGTGTGGTGTGTGTG:TGTGTGTG,NC_000022.11:48542096:TGTGTGTGTGGTGTGTGTGTGTGTGGTGTGTGTG:TGTGTGTGTGGTGTGTGTG,NC_000022.11:48542096:TGTGTGTGTGGTGTGTGTGTGTGTGGTGTGTGTG:TGTGTGTGTGGTGTGTGTGTGTGTGGTGTGTGTGTGTGTGGTGTGTGTG
- Gene:
- TAFA5 (Varview), LOC284933 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGTGTG=0.00014/1
(
ALFA)
TGTGTGTGTGGTGTG=0.1/4
(GENOME_DK)
TGTGTGGTGTGTGTG=0.31553/1170
(TWINSUK)
-=0.32821/5470
(TOMMO)
TGTGTGTGTGGTGTG=0.33667/202
(NorthernSweden)
- HGVS:
9.
rs1491030149 has merged into rs151287754 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TGTG>-,TG,TGTGTG,TGTGTGTG
[Show Flanks]
- Chromosome:
- 22:48542570
(GRCh38)
22:48938382
(GRCh37)
- Canonical SPDI:
- NC_000022.11:48542564:GTGTGTGTG:GTGTG,NC_000022.11:48542564:GTGTGTGTG:GTGTGTG,NC_000022.11:48542564:GTGTGTGTG:GTGTGTGTGTG,NC_000022.11:48542564:GTGTGTGTG:GTGTGTGTGTGTG
- Gene:
- TAFA5 (Varview), LOC284933 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GTGTGTG=0./0
(
ALFA)
-=0.19708/987
(1000Genomes)
-=0.25775/449
(Korea1K)
-=0.27255/272
(GoNL)
-=0.3293/4335
(TOMMO)
-=0.4/16
(GENOME_DK)
- HGVS:
10.
rs1491006839 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TG>-
[Show Flanks]
- Chromosome:
- 22:48542287
(GRCh38)
22:48938099
(GRCh37)
- Canonical SPDI:
- NC_000022.11:48542279:GTGTGTGTG:GTGTGTG
- Gene:
- TAFA5 (Varview), LOC284933 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GTGTGTG=0.000169/2
(
ALFA)
-=0.00009/11
(GnomAD)
-=0.000098/2
(TOMMO)
- HGVS:
12.
rs1490729336 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 22:48549160
(GRCh38)
22:48944972
(GRCh37)
- Canonical SPDI:
- NC_000022.11:48549159:C:T
- Gene:
- TAFA5 (Varview), LOC284933 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000043/6
(GnomAD)
T=0.000049/13
(TOPMED)
- HGVS:
13.
rs1490728160 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 22:48548884
(GRCh38)
22:48944696
(GRCh37)
- Canonical SPDI:
- NC_000022.11:48548883:C:T
- Gene:
- TAFA5 (Varview), LOC284933 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,genic_upstream_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)
- HGVS:
14.
rs1490620989 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 22:48548228
(GRCh38)
22:48944040
(GRCh37)
- Canonical SPDI:
- NC_000022.11:48548225:CTCT:CT
- Gene:
- TAFA5 (Varview), LOC284933 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CTCT=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
-=0.000014/2
(GnomAD)
- HGVS:
16.
rs1490377407 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 22:48544831
(GRCh38)
22:48940643
(GRCh37)
- Canonical SPDI:
- NC_000022.11:48544830:A:G
- Gene:
- TAFA5 (Varview), LOC284933 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_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:
18.
rs1490235419 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 22:48547972
(GRCh38)
22:48943784
(GRCh37)
- Canonical SPDI:
- NC_000022.11:48547971:T:C
- Gene:
- TAFA5 (Varview), LOC284933 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
20.
rs1489495754 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAGGGGAAG>-
[Show Flanks]
- Chromosome:
- 22:48547421
(GRCh38)
22:48943233
(GRCh37)
- Canonical SPDI:
- NC_000022.11:48547418:AGAAGGGGAAG:AG
- Gene:
- TAFA5 (Varview), LOC284933 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
AG=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS: