Links from Gene
Items: 1 to 20 of 2197
1.
rs1491363933 has merged into rs71208595 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 8:23224307
(GRCh38)
8:23081820
(GRCh37)
- Canonical SPDI:
- NC_000008.11:23224299:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAA,NC_000008.11:23224299:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000008.11:23224299:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000008.11:23224299:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000008.11:23224299:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000008.11:23224299:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000008.11:23224299:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000008.11:23224299:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000008.11:23224299:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000008.11:23224299:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000008.11:23224299:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000008.11:23224299:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000008.11:23224299:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000008.11:23224299:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000008.11:23224299:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000008.11:23224299:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:23224299:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:23224299:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:23224299:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:23224299:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:23224299:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:23224299:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:23224299:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:23224299:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:23224299:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:23224299:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:23224299:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- TNFRSF10A (Varview), TNFRSF10A-DT (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAA=0./0
(
ALFA)
AAAAAAAAA=0./0
(GENOME_DK)
AAAAAAAAAA=0.0381/191
(1000Genomes)
- HGVS:
NC_000008.11:g.23224307_23224322del, NC_000008.11:g.23224308_23224322del, NC_000008.11:g.23224309_23224322del, NC_000008.11:g.23224310_23224322del, NC_000008.11:g.23224311_23224322del, NC_000008.11:g.23224312_23224322del, NC_000008.11:g.23224313_23224322del, NC_000008.11:g.23224314_23224322del, NC_000008.11:g.23224315_23224322del, NC_000008.11:g.23224316_23224322del, NC_000008.11:g.23224317_23224322del, NC_000008.11:g.23224318_23224322del, NC_000008.11:g.23224319_23224322del, NC_000008.11:g.23224320_23224322del, NC_000008.11:g.23224321_23224322del, NC_000008.11:g.23224322del, NC_000008.11:g.23224322dup, NC_000008.11:g.23224321_23224322dup, NC_000008.11:g.23224320_23224322dup, NC_000008.11:g.23224319_23224322dup, NC_000008.11:g.23224318_23224322dup, NC_000008.11:g.23224317_23224322dup, NC_000008.11:g.23224316_23224322dup, NC_000008.11:g.23224314_23224322dup, NC_000008.11:g.23224309_23224322dup, NC_000008.11:g.23224306_23224322dup, NC_000008.11:g.23224305_23224322dup, NC_000008.10:g.23081820_23081835del, NC_000008.10:g.23081821_23081835del, NC_000008.10:g.23081822_23081835del, NC_000008.10:g.23081823_23081835del, NC_000008.10:g.23081824_23081835del, NC_000008.10:g.23081825_23081835del, NC_000008.10:g.23081826_23081835del, NC_000008.10:g.23081827_23081835del, NC_000008.10:g.23081828_23081835del, NC_000008.10:g.23081829_23081835del, NC_000008.10:g.23081830_23081835del, NC_000008.10:g.23081831_23081835del, NC_000008.10:g.23081832_23081835del, NC_000008.10:g.23081833_23081835del, NC_000008.10:g.23081834_23081835del, NC_000008.10:g.23081835del, NC_000008.10:g.23081835dup, NC_000008.10:g.23081834_23081835dup, NC_000008.10:g.23081833_23081835dup, NC_000008.10:g.23081832_23081835dup, NC_000008.10:g.23081831_23081835dup, NC_000008.10:g.23081830_23081835dup, NC_000008.10:g.23081829_23081835dup, NC_000008.10:g.23081827_23081835dup, NC_000008.10:g.23081822_23081835dup, NC_000008.10:g.23081819_23081835dup, NC_000008.10:g.23081818_23081835dup, NG_032107.1:g.5853_5868del, NG_032107.1:g.5854_5868del, NG_032107.1:g.5855_5868del, NG_032107.1:g.5856_5868del, NG_032107.1:g.5857_5868del, NG_032107.1:g.5858_5868del, NG_032107.1:g.5859_5868del, NG_032107.1:g.5860_5868del, NG_032107.1:g.5861_5868del, NG_032107.1:g.5862_5868del, NG_032107.1:g.5863_5868del, NG_032107.1:g.5864_5868del, NG_032107.1:g.5865_5868del, NG_032107.1:g.5866_5868del, NG_032107.1:g.5867_5868del, NG_032107.1:g.5868del, NG_032107.1:g.5868dup, NG_032107.1:g.5867_5868dup, NG_032107.1:g.5866_5868dup, NG_032107.1:g.5865_5868dup, NG_032107.1:g.5864_5868dup, NG_032107.1:g.5863_5868dup, NG_032107.1:g.5862_5868dup, NG_032107.1:g.5860_5868dup, NG_032107.1:g.5855_5868dup, NG_032107.1:g.5852_5868dup, NG_032107.1:g.5851_5868dup
2.
rs1490875422 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 8:23231292
(GRCh38)
8:23088805
(GRCh37)
- Canonical SPDI:
- NC_000008.11:23231291:T:A,NC_000008.11:23231291:T:C
- Gene:
- TNFRSF10A-DT (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000447/2
(
ALFA)
A=0.000014/2
(GnomAD)
C=0.000035/1
(TOMMO)
A=0.000446/2
(Estonian)
- HGVS:
3.
rs1490687548 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 8:23226474
(GRCh38)
8:23083987
(GRCh37)
- Canonical SPDI:
- NC_000008.11:23226473:A:G
- Gene:
- TNFRSF10A (Varview), TNFRSF10A-DT (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000065/9
(GnomAD)
G=0.000546/1
(Korea1K)
- HGVS:
4.
rs1490147713 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 8:23227733
(GRCh38)
8:23085246
(GRCh37)
- Canonical SPDI:
- NC_000008.11:23227732:T:C
- Gene:
- TNFRSF10A-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
5.
rs1489982793 has merged into rs71208597 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTT>-,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 8:23227409
(GRCh38)
8:23084922
(GRCh37)
- Canonical SPDI:
- NC_000008.11:23227395:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000008.11:23227395:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000008.11:23227395:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000008.11:23227395:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000008.11:23227395:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000008.11:23227395:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000008.11:23227395:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000008.11:23227395:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:23227395:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:23227395:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:23227395:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:23227395:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:23227395:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:23227395:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:23227395:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:23227395:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:23227395:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:23227395:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:23227395:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:23227395:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:23227395:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:23227395:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:23227395:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:23227395:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- TNFRSF10A-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTT=0./0
(
ALFA)
TTT=0.3231/1618
(1000Genomes)
- HGVS:
NC_000008.11:g.23227409_23227420del, NC_000008.11:g.23227411_23227420del, NC_000008.11:g.23227413_23227420del, NC_000008.11:g.23227414_23227420del, NC_000008.11:g.23227415_23227420del, NC_000008.11:g.23227416_23227420del, NC_000008.11:g.23227417_23227420del, NC_000008.11:g.23227418_23227420del, NC_000008.11:g.23227419_23227420del, NC_000008.11:g.23227420del, NC_000008.11:g.23227420dup, NC_000008.11:g.23227419_23227420dup, NC_000008.11:g.23227418_23227420dup, NC_000008.11:g.23227417_23227420dup, NC_000008.11:g.23227416_23227420dup, NC_000008.11:g.23227414_23227420dup, NC_000008.11:g.23227413_23227420dup, NC_000008.11:g.23227398_23227420dup, NC_000008.11:g.23227397_23227420dup, NC_000008.11:g.23227396_23227420dup, NC_000008.11:g.23227420_23227421insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.11:g.23227420_23227421insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.11:g.23227420_23227421insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.11:g.23227420_23227421insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.23084922_23084933del, NC_000008.10:g.23084924_23084933del, NC_000008.10:g.23084926_23084933del, NC_000008.10:g.23084927_23084933del, NC_000008.10:g.23084928_23084933del, NC_000008.10:g.23084929_23084933del, NC_000008.10:g.23084930_23084933del, NC_000008.10:g.23084931_23084933del, NC_000008.10:g.23084932_23084933del, NC_000008.10:g.23084933del, NC_000008.10:g.23084933dup, NC_000008.10:g.23084932_23084933dup, NC_000008.10:g.23084931_23084933dup, NC_000008.10:g.23084930_23084933dup, NC_000008.10:g.23084929_23084933dup, NC_000008.10:g.23084927_23084933dup, NC_000008.10:g.23084926_23084933dup, NC_000008.10:g.23084911_23084933dup, NC_000008.10:g.23084910_23084933dup, NC_000008.10:g.23084909_23084933dup, NC_000008.10:g.23084933_23084934insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.23084933_23084934insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.23084933_23084934insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.23084933_23084934insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_032107.1:g.2761_2772del, NG_032107.1:g.2763_2772del, NG_032107.1:g.2765_2772del, NG_032107.1:g.2766_2772del, NG_032107.1:g.2767_2772del, NG_032107.1:g.2768_2772del, NG_032107.1:g.2769_2772del, NG_032107.1:g.2770_2772del, NG_032107.1:g.2771_2772del, NG_032107.1:g.2772del, NG_032107.1:g.2772dup, NG_032107.1:g.2771_2772dup, NG_032107.1:g.2770_2772dup, NG_032107.1:g.2769_2772dup, NG_032107.1:g.2768_2772dup, NG_032107.1:g.2766_2772dup, NG_032107.1:g.2765_2772dup, NG_032107.1:g.2750_2772dup, NG_032107.1:g.2749_2772dup, NG_032107.1:g.2748_2772dup, NG_032107.1:g.2772_2773insAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_032107.1:g.2772_2773insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_032107.1:g.2772_2773insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_032107.1:g.2772_2773insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
6.
rs1489691407 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 8:23228601
(GRCh38)
8:23086114
(GRCh37)
- Canonical SPDI:
- NC_000008.11:23228600:A:G
- Gene:
- TNFRSF10A-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000071/1
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
7.
rs1489555290 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 8:23229343
(GRCh38)
8:23086856
(GRCh37)
- Canonical SPDI:
- NC_000008.11:23229342:A:T
- Gene:
- TNFRSF10A-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.00257/42
(
ALFA)
T=0.00926/27
(KOREAN)
- HGVS:
8.
rs1489005690 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 8:23224534
(GRCh38)
8:23082047
(GRCh37)
- Canonical SPDI:
- NC_000008.11:23224533:C:T
- Gene:
- TNFRSF10A (Varview), TNFRSF10A-DT (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000015/4
(TOPMED)
- HGVS:
9.
rs1487720153 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 8:23228234
(GRCh38)
8:23085747
(GRCh37)
- Canonical SPDI:
- NC_000008.11:23228233:T:C
- Gene:
- TNFRSF10A-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000084/1
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000087/23
(TOPMED)
T=0.5/1
(SGDP_PRJ)
- HGVS:
10.
rs1487265021 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 8:23228598
(GRCh38)
8:23086111
(GRCh37)
- Canonical SPDI:
- NC_000008.11:23228597:G:T
- Gene:
- TNFRSF10A-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
12.
rs1486282748 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 8:23229086
(GRCh38)
8:23086599
(GRCh37)
- Canonical SPDI:
- NC_000008.11:23229085:T:C
- Gene:
- TNFRSF10A-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000011/3
(TOPMED)
C=0.000546/1
(Korea1K)
- HGVS:
13.
rs1485932291 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 8:23224974
(GRCh38)
8:23082487
(GRCh37)
- Canonical SPDI:
- NC_000008.11:23224973:C:T
- Gene:
- TNFRSF10A (Varview), TNFRSF10A-DT (Varview)
- Functional Consequence:
- missense_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000004/1
(GnomAD_exomes)
T=0.000004/1
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
14.
rs1485925834 has merged into rs71208597 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTT>-,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 8:23227409
(GRCh38)
8:23084922
(GRCh37)
- Canonical SPDI:
- NC_000008.11:23227395:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000008.11:23227395:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000008.11:23227395:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000008.11:23227395:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000008.11:23227395:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000008.11:23227395:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000008.11:23227395:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000008.11:23227395:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:23227395:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:23227395:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:23227395:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:23227395:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:23227395:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:23227395:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:23227395:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:23227395:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:23227395:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:23227395:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:23227395:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:23227395:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:23227395:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:23227395:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:23227395:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:23227395:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- TNFRSF10A-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTT=0./0
(
ALFA)
TTT=0.3231/1618
(1000Genomes)
- HGVS:
NC_000008.11:g.23227409_23227420del, NC_000008.11:g.23227411_23227420del, NC_000008.11:g.23227413_23227420del, NC_000008.11:g.23227414_23227420del, NC_000008.11:g.23227415_23227420del, NC_000008.11:g.23227416_23227420del, NC_000008.11:g.23227417_23227420del, NC_000008.11:g.23227418_23227420del, NC_000008.11:g.23227419_23227420del, NC_000008.11:g.23227420del, NC_000008.11:g.23227420dup, NC_000008.11:g.23227419_23227420dup, NC_000008.11:g.23227418_23227420dup, NC_000008.11:g.23227417_23227420dup, NC_000008.11:g.23227416_23227420dup, NC_000008.11:g.23227414_23227420dup, NC_000008.11:g.23227413_23227420dup, NC_000008.11:g.23227398_23227420dup, NC_000008.11:g.23227397_23227420dup, NC_000008.11:g.23227396_23227420dup, NC_000008.11:g.23227420_23227421insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.11:g.23227420_23227421insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.11:g.23227420_23227421insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.11:g.23227420_23227421insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.23084922_23084933del, NC_000008.10:g.23084924_23084933del, NC_000008.10:g.23084926_23084933del, NC_000008.10:g.23084927_23084933del, NC_000008.10:g.23084928_23084933del, NC_000008.10:g.23084929_23084933del, NC_000008.10:g.23084930_23084933del, NC_000008.10:g.23084931_23084933del, NC_000008.10:g.23084932_23084933del, NC_000008.10:g.23084933del, NC_000008.10:g.23084933dup, NC_000008.10:g.23084932_23084933dup, NC_000008.10:g.23084931_23084933dup, NC_000008.10:g.23084930_23084933dup, NC_000008.10:g.23084929_23084933dup, NC_000008.10:g.23084927_23084933dup, NC_000008.10:g.23084926_23084933dup, NC_000008.10:g.23084911_23084933dup, NC_000008.10:g.23084910_23084933dup, NC_000008.10:g.23084909_23084933dup, NC_000008.10:g.23084933_23084934insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.23084933_23084934insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.23084933_23084934insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.23084933_23084934insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_032107.1:g.2761_2772del, NG_032107.1:g.2763_2772del, NG_032107.1:g.2765_2772del, NG_032107.1:g.2766_2772del, NG_032107.1:g.2767_2772del, NG_032107.1:g.2768_2772del, NG_032107.1:g.2769_2772del, NG_032107.1:g.2770_2772del, NG_032107.1:g.2771_2772del, NG_032107.1:g.2772del, NG_032107.1:g.2772dup, NG_032107.1:g.2771_2772dup, NG_032107.1:g.2770_2772dup, NG_032107.1:g.2769_2772dup, NG_032107.1:g.2768_2772dup, NG_032107.1:g.2766_2772dup, NG_032107.1:g.2765_2772dup, NG_032107.1:g.2750_2772dup, NG_032107.1:g.2749_2772dup, NG_032107.1:g.2748_2772dup, NG_032107.1:g.2772_2773insAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_032107.1:g.2772_2773insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_032107.1:g.2772_2773insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_032107.1:g.2772_2773insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
15.
rs1485808287 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 8:23223539
(GRCh38)
8:23081052
(GRCh37)
- Canonical SPDI:
- NC_000008.11:23223538:C:T
- Gene:
- TNFRSF10A (Varview), TNFRSF10A-DT (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000021/3
(GnomAD)
T=0.000026/7
(TOPMED)
- HGVS:
16.
rs1485510117 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 8:23224725
(GRCh38)
8:23082238
(GRCh37)
- Canonical SPDI:
- NC_000008.11:23224724:T:C
- Gene:
- TNFRSF10A (Varview), TNFRSF10A-DT (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
17.
rs1485308218 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTTA>-
[Show Flanks]
- Chromosome:
- 8:23227334
(GRCh38)
8:23084847
(GRCh37)
- Canonical SPDI:
- NC_000008.11:23227329:GTTAGTTA:GTTA
- Gene:
- TNFRSF10A-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GTTAGTTA=0.000071/1
(
ALFA)
-=0.000021/3
(GnomAD)
-=0.000034/9
(TOPMED)
- HGVS:
18.
rs1485280146 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 8:23228109
(GRCh38)
8:23085622
(GRCh37)
- Canonical SPDI:
- NC_000008.11:23228108:C:G
- Gene:
- TNFRSF10A-DT (Varview)
- Functional Consequence:
- non_coding_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:
19.
rs1484642834 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 8:23231232
(GRCh38)
8:23088745
(GRCh37)
- Canonical SPDI:
- NC_000008.11:23231231:C:T
- Gene:
- TNFRSF10A-DT (Varview)
- Functional Consequence:
- 500B_downstream_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.
rs1484572559 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 8:23223290
(GRCh38)
8:23080803
(GRCh37)
- Canonical SPDI:
- NC_000008.11:23223289:C:G,NC_000008.11:23223289:C:T
- Gene:
- TNFRSF10A (Varview), TNFRSF10A-DT (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS: