Links from Gene
Items: 1 to 20 of 2073
2.
rs1491283614 has merged into rs753824480 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTT>-,T,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 16:67153958
(GRCh38)
16:67187861
(GRCh37)
- Canonical SPDI:
- NC_000016.10:67153949:TTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000016.10:67153949:TTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000016.10:67153949:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000016.10:67153949:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000016.10:67153949:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000016.10:67153949:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000016.10:67153949:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000016.10:67153949:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000016.10:67153949:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000016.10:67153949:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000016.10:67153949:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000016.10:67153949:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:67153949:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:67153949:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:67153949:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:67153949:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- TRADD (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTT=0./0
(
ALFA)
-=0.000026/7
(TOPMED)
- HGVS:
NC_000016.10:g.67153958_67153968del, NC_000016.10:g.67153959_67153968del, NC_000016.10:g.67153962_67153968del, NC_000016.10:g.67153963_67153968del, NC_000016.10:g.67153964_67153968del, NC_000016.10:g.67153965_67153968del, NC_000016.10:g.67153966_67153968del, NC_000016.10:g.67153967_67153968del, NC_000016.10:g.67153968del, NC_000016.10:g.67153968dup, NC_000016.10:g.67153967_67153968dup, NC_000016.10:g.67153966_67153968dup, NC_000016.10:g.67153965_67153968dup, NC_000016.10:g.67153964_67153968dup, NC_000016.10:g.67153963_67153968dup, NC_000016.10:g.67153962_67153968dup, NC_000016.9:g.67187861_67187871del, NC_000016.9:g.67187862_67187871del, NC_000016.9:g.67187865_67187871del, NC_000016.9:g.67187866_67187871del, NC_000016.9:g.67187867_67187871del, NC_000016.9:g.67187868_67187871del, NC_000016.9:g.67187869_67187871del, NC_000016.9:g.67187870_67187871del, NC_000016.9:g.67187871del, NC_000016.9:g.67187871dup, NC_000016.9:g.67187870_67187871dup, NC_000016.9:g.67187869_67187871dup, NC_000016.9:g.67187868_67187871dup, NC_000016.9:g.67187867_67187871dup, NC_000016.9:g.67187866_67187871dup, NC_000016.9:g.67187865_67187871dup
4.
rs1490140567 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 16:67161095
(GRCh38)
16:67194998
(GRCh37)
- Canonical SPDI:
- NC_000016.10:67161094:C:T
- Gene:
- TRADD (Varview), FBXL8 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_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:
5.
rs1490050449 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 16:67153867
(GRCh38)
16:67187770
(GRCh37)
- Canonical SPDI:
- NC_000016.10:67153866:T:G
- Gene:
- TRADD (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
6.
rs1489978899 has merged into rs59873315 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 16:67161462
(GRCh38)
16:67195365
(GRCh37)
- Canonical SPDI:
- NC_000016.10:67161451:AAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000016.10:67161451:AAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000016.10:67161451:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000016.10:67161451:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000016.10:67161451:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000016.10:67161451:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000016.10:67161451:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000016.10:67161451:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000016.10:67161451:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000016.10:67161451:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:67161451:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- TRADD (Varview), FBXL8 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAA=0./0
(
ALFA)
-=0.03925/23
(NorthernSweden)
- HGVS:
NC_000016.10:g.67161462_67161467del, NC_000016.10:g.67161463_67161467del, NC_000016.10:g.67161464_67161467del, NC_000016.10:g.67161465_67161467del, NC_000016.10:g.67161466_67161467del, NC_000016.10:g.67161467del, NC_000016.10:g.67161467dup, NC_000016.10:g.67161466_67161467dup, NC_000016.10:g.67161465_67161467dup, NC_000016.10:g.67161454_67161467dup, NC_000016.10:g.67161467_67161468insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000016.9:g.67195365_67195370del, NC_000016.9:g.67195366_67195370del, NC_000016.9:g.67195367_67195370del, NC_000016.9:g.67195368_67195370del, NC_000016.9:g.67195369_67195370del, NC_000016.9:g.67195370del, NC_000016.9:g.67195370dup, NC_000016.9:g.67195369_67195370dup, NC_000016.9:g.67195368_67195370dup, NC_000016.9:g.67195357_67195370dup, NC_000016.9:g.67195370_67195371insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_009294.1:g.3078_3083del, NG_009294.1:g.3079_3083del, NG_009294.1:g.3080_3083del, NG_009294.1:g.3081_3083del, NG_009294.1:g.3082_3083del, NG_009294.1:g.3083del, NG_009294.1:g.3083dup, NG_009294.1:g.3082_3083dup, NG_009294.1:g.3081_3083dup, NG_009294.1:g.3070_3083dup, NG_009294.1:g.3083_3084insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
7.
rs1489679566 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 16:67156710
(GRCh38)
16:67190613
(GRCh37)
- Canonical SPDI:
- NC_000016.10:67156709:C:A
- Gene:
- TRADD (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:
8.
rs1489556707 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 16:67160047
(GRCh38)
16:67193950
(GRCh37)
- Canonical SPDI:
- NC_000016.10:67160046:C:A
- Gene:
- TRADD (Varview), FBXL8 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
9.
rs1489375780 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 16:67157939
(GRCh38)
16:67191842
(GRCh37)
- Canonical SPDI:
- NC_000016.10:67157938:A:G
- Gene:
- TRADD (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000224/1
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000223/1
(Estonian)
- HGVS:
10.
rs1488599785 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 16:67153973
(GRCh38)
16:67187876
(GRCh37)
- Canonical SPDI:
- NC_000016.10:67153972:C:A
- Gene:
- TRADD (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency
- MAF:
A=0.0016/45
(TOMMO)
- HGVS:
11.
rs1487861225 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 16:67161859
(GRCh38)
16:67195762
(GRCh37)
- Canonical SPDI:
- NC_000016.10:67161858:G:A
- Gene:
- HSF4 (Varview), TRADD (Varview), FBXL8 (Varview)
- Functional Consequence:
- coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
- Validated:
- by frequency,by cluster
- MAF:
A=0.000008/2
(GnomAD_exomes)
- HGVS:
14.
rs1487399023 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GAGTGTT>-
[Show Flanks]
- Chromosome:
- 16:67158026
(GRCh38)
16:67191929
(GRCh37)
- Canonical SPDI:
- NC_000016.10:67158018:GAGTGTTGAGTGTT:GAGTGTT
- Gene:
- TRADD (Varview), FBXL8 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
GAGTGTTGAGTGTT=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
- HGVS:
15.
rs1487233442 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 16:67160134
(GRCh38)
16:67194037
(GRCh37)
- Canonical SPDI:
- NC_000016.10:67160133:T:C
- Gene:
- TRADD (Varview), FBXL8 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_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.
rs1487136097 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 16:67159007
(GRCh38)
16:67192910
(GRCh37)
- Canonical SPDI:
- NC_000016.10:67159006:G:A,NC_000016.10:67159006:G:C
- Gene:
- TRADD (Varview), FBXL8 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
C=0.000156/1
(1000Genomes)
- HGVS:
17.
rs1487041937 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 16:67156273
(GRCh38)
16:67190176
(GRCh37)
- Canonical SPDI:
- NC_000016.10:67156272:G:A
- Gene:
- TRADD (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
18.
rs1486484369 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 16:67161168
(GRCh38)
16:67195071
(GRCh37)
- Canonical SPDI:
- NC_000016.10:67161167:C:A
- Gene:
- TRADD (Varview), FBXL8 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000015/4
(TOPMED)
- HGVS:
19.
rs1486406460 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 16:67155534
(GRCh38)
16:67189437
(GRCh37)
- Canonical SPDI:
- NC_000016.10:67155533:C:T
- Gene:
- TRADD (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
20.
rs1486277294 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 16:67158989
(GRCh38)
16:67192892
(GRCh37)
- Canonical SPDI:
- NC_000016.10:67158988:C:G,NC_000016.10:67158988:C:T
- Gene:
- TRADD (Varview), FBXL8 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS: