Links from Gene
Items: 1 to 20 of 6305
2.
rs1490829141 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- 9:120923476
(GRCh38)
9:123685754
(GRCh37)
- Canonical SPDI:
- NC_000009.12:120923475:CCCC:CCC
- Gene:
- TRAF1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
CCC=0.000071/1
(
ALFA)
-=0.000007/1
(GnomAD)
- HGVS:
3.
rs1490804289 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 9:120907425
(GRCh38)
9:123669703
(GRCh37)
- Canonical SPDI:
- NC_000009.12:120907424:T:A
- Gene:
- TRAF1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.00003/8
(TOPMED)
- HGVS:
4.
rs1490772581 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 9:120916202
(GRCh38)
9:123678480
(GRCh37)
- Canonical SPDI:
- NC_000009.12:120916201:T:G
- Gene:
- TRAF1 (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=0.000007/1
(GnomAD)
G=0.000011/3
(TOPMED)
- HGVS:
5.
rs1490312975 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:120908011
(GRCh38)
9:123670289
(GRCh37)
- Canonical SPDI:
- NC_000009.12:120908010:G:A
- Gene:
- TRAF1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
6.
rs1490282521 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 9:120915152
(GRCh38)
9:123677430
(GRCh37)
- Canonical SPDI:
- NC_000009.12:120915150:ACA:A
- Gene:
- TRAF1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000014/2
(GnomAD)
- HGVS:
8.
rs1489689800 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:120909371
(GRCh38)
9:123671649
(GRCh37)
- Canonical SPDI:
- NC_000009.12:120909370:G:A
- Gene:
- TRAF1 (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant
- Validated:
- by frequency
- MAF:
A=0.000004/1
(GnomAD_exomes)
- HGVS:
9.
rs1489416700 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- A>-
[Show Flanks]
- Chromosome:
- 9:120917337
(GRCh38)
9:123679615
(GRCh37)
- Canonical SPDI:
- NC_000009.12:120917336:A:
- Gene:
- TRAF1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
10.
rs1489112720 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:120908133
(GRCh38)
9:123670411
(GRCh37)
- Canonical SPDI:
- NC_000009.12:120908132:G:A
- Gene:
- TRAF1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
11.
rs1489046465 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 9:120925174
(GRCh38)
9:123687452
(GRCh37)
- Canonical SPDI:
- NC_000009.12:120925173:A:G
- Gene:
- TRAF1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000014/2
(GnomAD)
G=0.000015/4
(TOPMED)
- HGVS:
12.
rs1489018279 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 9:120928850
(GRCh38)
9:123691128
(GRCh37)
- Canonical SPDI:
- NC_000009.12:120928849:A:T
- Gene:
- TRAF1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
13.
rs1488789330 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:120912758
(GRCh38)
9:123675036
(GRCh37)
- Canonical SPDI:
- NC_000009.12:120912757:G:A
- Gene:
- TRAF1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
- HGVS:
14.
rs1488754862 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 9:120907352
(GRCh38)
9:123669630
(GRCh37)
- Canonical SPDI:
- NC_000009.12:120907351:A:G
- Gene:
- TRAF1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000142/2
(
ALFA)
G=0.000026/7
(TOPMED)
- HGVS:
15.
rs1488753487 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 9:120928748
(GRCh38)
9:123691026
(GRCh37)
- Canonical SPDI:
- NC_000009.12:120928747:G:C
- Gene:
- TRAF1 (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=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
16.
rs1488752079 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GAGCC>-
[Show Flanks]
- Chromosome:
- 9:120928805
(GRCh38)
9:123691083
(GRCh37)
- Canonical SPDI:
- NC_000009.12:120928804:GAGCC:
- Gene:
- TRAF1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.000216/4
(
ALFA)
-=0.000121/17
(GnomAD)
-=0.000125/33
(TOPMED)
-=0.000223/1
(Estonian)
- HGVS:
17.
rs1488641836 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 9:120907194
(GRCh38)
9:123669472
(GRCh37)
- Canonical SPDI:
- NC_000009.12:120907193:A:G
- Gene:
- TRAF1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
19.
rs1488594888 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 9:120902118
(GRCh38)
9:123664396
(GRCh37)
- Canonical SPDI:
- NC_000009.12:120902117:G:T
- Gene:
- TRAF1 (Varview), PHF19 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,500B_downstream_variant,genic_upstream_transcript_variant,downstream_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:
20.
rs1488392334 has merged into rs56675791 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,T,TTT,TTTT
[Show Flanks]
- Chromosome:
- 9:120926334
(GRCh38)
9:123688612
(GRCh37)
- Canonical SPDI:
- NC_000009.12:120926320:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000009.12:120926320:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000009.12:120926320:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000009.12:120926320:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT
- Gene:
- TRAF1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.08863/53
(NorthernSweden)
-=0.2/8
(GENOME_DK)
-=0.26478/1326
(1000Genomes)
- HGVS:
NC_000009.12:g.120926334_120926335del, NC_000009.12:g.120926335del, NC_000009.12:g.120926335dup, NC_000009.12:g.120926334_120926335dup, NC_000009.11:g.123688612_123688613del, NC_000009.11:g.123688613del, NC_000009.11:g.123688613dup, NC_000009.11:g.123688612_123688613dup, NG_023346.1:g.7852_7853del, NG_023346.1:g.7853del, NG_023346.1:g.7853dup, NG_023346.1:g.7852_7853dup