Links from Gene
Items: 1 to 20 of 10498
1.
rs1491582776 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CT>-,CTCCTTCTCCATCT
[Show Flanks]
- Chromosome:
- 1:12174260
(GRCh38)
1:12234317
(GRCh37)
- Canonical SPDI:
- NC_000001.11:12174258:TCT:T,NC_000001.11:12174258:TCT:TCTCCTTCTCCATCT
- Gene:
- TNFRSF1B (Varview), LOC124903844 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
TCTCCTTCTCCA=0.000035/1
(TOMMO)
- HGVS:
3.
rs1491559167 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AG>-
[Show Flanks]
- Chromosome:
- 1:12201486
(GRCh38)
1:12261543
(GRCh37)
- Canonical SPDI:
- NC_000001.11:12201485:AG:
- Gene:
- TNFRSF1B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.000169/2
(
ALFA)
-=0.000165/23
(GnomAD)
- HGVS:
4.
rs1491551359 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TCTA,TTCTA
[Show Flanks]
- Chromosome:
- 1:12183764
(GRCh38)
1:12243822
(GRCh37)
- Canonical SPDI:
- NC_000001.11:12183764:CTA:CTATCTA,NC_000001.11:12183764:CTA:CTATTCTA
- Gene:
- TNFRSF1B (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CTATTCTA=0./0
(
ALFA)
CTAT=0.00028/25
(GnomAD)
- HGVS:
5.
rs1491476199 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CC>-
[Show Flanks]
- Chromosome:
- 1:12204811
(GRCh38)
1:12264868
(GRCh37)
- Canonical SPDI:
- NC_000001.11:12204810:CC:
- Gene:
- TNFRSF1B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
-=0.000151/21
(GnomAD)
-=0.000468/3
(1000Genomes)
-=0.001982/33
(TOMMO)
-=0.002729/5
(Korea1K)
- HGVS:
6.
rs1491421196 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TT>-
[Show Flanks]
- Chromosome:
- 1:12174159
(GRCh38)
1:12234216
(GRCh37)
- Canonical SPDI:
- NC_000001.11:12174158:TT:
- Gene:
- TNFRSF1B (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by cluster
- MAF:
-=0.00363/59
(TOMMO)
-=0.00467/434
(GnomAD)
-=0.00495/9
(Korea1K)
- HGVS:
8.
rs1491286493 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 1:12183788
(GRCh38)
1:12243846
(GRCh37)
- Canonical SPDI:
- NC_000001.11:12183788::T
- Gene:
- TNFRSF1B (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by cluster
- MAF:
T=0.000087/11
(GnomAD)
T=0.000142/2
(TOMMO)
- HGVS:
9.
rs1491259517 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TT>-
[Show Flanks]
- Chromosome:
- 1:12174153
(GRCh38)
1:12234210
(GRCh37)
- Canonical SPDI:
- NC_000001.11:12174152:TT:
- Gene:
- TNFRSF1B (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00205/9
(
ALFA)
-=0.00016/3
(TOMMO)
-=0.00055/1
(Korea1K)
-=0.00237/213
(GnomAD)
- HGVS:
10.
rs1491206697 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AC>-
[Show Flanks]
- Chromosome:
- 1:12183788
(GRCh38)
1:12243845
(GRCh37)
- Canonical SPDI:
- NC_000001.11:12183787:AC:
- Gene:
- TNFRSF1B (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by cluster
- MAF:
-=0.00028/8
(TOMMO)
-=0.00168/1
(NorthernSweden)
- HGVS:
11.
rs1491159464 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 1:12192307
(GRCh38)
1:12252364
(GRCh37)
- Canonical SPDI:
- NC_000001.11:12192306:TA:
- Gene:
- TNFRSF1B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.00004/1
(ExAC)
- HGVS:
12.
rs1491137937 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CCT,CCTTCTCCT,CCTTCTCCTTCTCCT,CCTTCTCCTTCTCCTTCTCCT,CCTTCTCCTTCTCCTTCTCCTTCTCCT,CCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTACT
[Show Flanks]
- Chromosome:
- 1:12174259
(GRCh38)
1:12234317
(GRCh37)
- Canonical SPDI:
- NC_000001.11:12174259:CT:CTCCT,NC_000001.11:12174259:CT:CTCCTTCTCCT,NC_000001.11:12174259:CT:CTCCTTCTCCTTCTCCT,NC_000001.11:12174259:CT:CTCCTTCTCCTTCTCCTTCTCCT,NC_000001.11:12174259:CT:CTCCTTCTCCTTCTCCTTCTCCTTCTCCT,NC_000001.11:12174259:CT:CTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTACT
- Gene:
- TNFRSF1B (Varview), LOC124903844 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by cluster
- MAF:
CTCCTTCTCCTTCTCCTTCTCCTTCTC=0.000015/2
(GnomAD)
- HGVS:
NC_000001.11:g.12174261_12174262insCCT, NC_000001.11:g.12174261_12174262insCCTTCTCCT, NC_000001.11:g.12174260_12174261CTCCTT[2]CTCCT[1], NC_000001.11:g.12174260_12174261CTCCTT[3]CTCCT[1], NC_000001.11:g.12174260_12174261CTCCTT[4]CTCCT[1], NC_000001.11:g.12174260_12174261CTCCTT[5]CTCCTACT[1], NC_000001.10:g.12234318_12234319insCCT, NC_000001.10:g.12234318_12234319insCCTTCTCCT, NC_000001.10:g.12234317_12234318CTCCTT[2]CTCCT[1], NC_000001.10:g.12234317_12234318CTCCTT[3]CTCCT[1], NC_000001.10:g.12234317_12234318CTCCTT[4]CTCCT[1], NC_000001.10:g.12234317_12234318CTCCTT[5]CTCCTACT[1], NG_029791.1:g.12259_12260insCCT, NG_029791.1:g.12259_12260insCCTTCTCCT, NG_029791.1:g.12258_12259CTCCTT[2]CTCCT[1], NG_029791.1:g.12258_12259CTCCTT[3]CTCCT[1], NG_029791.1:g.12258_12259CTCCTT[4]CTCCT[1], NG_029791.1:g.12258_12259CTCCTT[5]CTCCTACT[1]
13.
rs1491116281 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AC>-
[Show Flanks]
- Chromosome:
- 1:12183719
(GRCh38)
1:12243776
(GRCh37)
- Canonical SPDI:
- NC_000001.11:12183718:AC:
- Gene:
- TNFRSF1B (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by cluster
- MAF:
-=0.00018/18
(GnomAD)
-=0.00076/12
(TOMMO)
-=0.00243/9
(TWINSUK)
-=0.00389/15
(ALSPAC)
- HGVS:
15.
rs1491019326 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->TC
[Show Flanks]
- Chromosome:
- 1:12196950
(GRCh38)
1:12257008
(GRCh37)
- Canonical SPDI:
- NC_000001.11:12196950::TC
- Gene:
- TNFRSF1B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TC=0.000674/8
(
ALFA)
TC=0.000612/85
(GnomAD)
TC=0.000625/4
(1000Genomes)
- HGVS:
16.
rs1491007063 has merged into rs113097991 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAGAAGAGCTGACATTTATCTGTCTCCAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 1:12177805
(GRCh38)
1:12237862
(GRCh37)
- Canonical SPDI:
- NC_000001.11:12177794:AAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:12177794:AAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:12177794:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:12177794:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:12177794:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:12177794:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:12177794:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:12177794:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:12177794:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:12177794:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAGAAGAGCTGACATTTATCTGTCTCCAAAAAAAAAAAAAAAAA
- Gene:
- TNFRSF1B (Varview), LOC124903844 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000001.11:g.12177805_12177810del, NC_000001.11:g.12177806_12177810del, NC_000001.11:g.12177807_12177810del, NC_000001.11:g.12177808_12177810del, NC_000001.11:g.12177809_12177810del, NC_000001.11:g.12177810del, NC_000001.11:g.12177810dup, NC_000001.11:g.12177809_12177810dup, NC_000001.11:g.12177808_12177810dup, NC_000001.11:g.12177795_12177810A[17]GAAGAGCTGACATTTATCTGTCTCCAAAAAAAAAAAAAAAAA[1], NC_000001.10:g.12237862_12237867del, NC_000001.10:g.12237863_12237867del, NC_000001.10:g.12237864_12237867del, NC_000001.10:g.12237865_12237867del, NC_000001.10:g.12237866_12237867del, NC_000001.10:g.12237867del, NC_000001.10:g.12237867dup, NC_000001.10:g.12237866_12237867dup, NC_000001.10:g.12237865_12237867dup, NC_000001.10:g.12237852_12237867A[17]GAAGAGCTGACATTTATCTGTCTCCAAAAAAAAAAAAAAAAA[1], NG_029791.1:g.15803_15808del, NG_029791.1:g.15804_15808del, NG_029791.1:g.15805_15808del, NG_029791.1:g.15806_15808del, NG_029791.1:g.15807_15808del, NG_029791.1:g.15808del, NG_029791.1:g.15808dup, NG_029791.1:g.15807_15808dup, NG_029791.1:g.15806_15808dup, NG_029791.1:g.15793_15808A[17]GAAGAGCTGACATTTATCTGTCTCCAAAAAAAAAAAAAAAAA[1], XR_007065466.1:n.1627_1632del, XR_007065466.1:n.1628_1632del, XR_007065466.1:n.1629_1632del, XR_007065466.1:n.1630_1632del, XR_007065466.1:n.1631_1632del, XR_007065466.1:n.1632del, XR_007065466.1:n.1632dup, XR_007065466.1:n.1631_1632dup, XR_007065466.1:n.1630_1632dup, XR_007065466.1:n.1617_1632A[17]GAAGAGCTGACATTTATCTGTCTCCAAAAAAAAAAAAAAAAA[1]
17.
rs1490951513 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:12179391
(GRCh38)
1:12239448
(GRCh37)
- Canonical SPDI:
- NC_000001.11:12179390:A:G
- Gene:
- TNFRSF1B (Varview), LOC124903844 (Varview)
- Functional Consequence:
- 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.
rs1490901640 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 1:12197173
(GRCh38)
1:12257230
(GRCh37)
- Canonical SPDI:
- NC_000001.11:12197172:C:A,NC_000001.11:12197172:C:T
- Gene:
- TNFRSF1B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
A=0.000019/5
(TOPMED)
A=0.004673/1
(Vietnamese)
- HGVS:
19.
rs1490838131 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 1:12207584
(GRCh38)
1:12267641
(GRCh37)
- Canonical SPDI:
- NC_000001.11:12207583:G:C
- Gene:
- TNFRSF1B (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
NC_000001.11:g.12207584G>C, NC_000001.10:g.12267641G>C, NG_029791.1:g.45582G>C, NM_001066.3:c.*564G>C, NM_001066.2:c.*564G>C, XM_011542060.3:c.*564G>C, XM_011542060.2:c.*564G>C, XM_011542060.1:c.*564G>C, XM_011542063.3:c.*564G>C, XM_011542063.2:c.*564G>C, XM_011542063.1:c.*564G>C, XM_047429424.1:c.*564G>C, XM_047429423.1:c.*564G>C, XM_047429422.1:c.*564G>C
20.
rs1490803491 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 1:12208407
(GRCh38)
1:12268464
(GRCh37)
- Canonical SPDI:
- NC_000001.11:12208406:G:C
- Gene:
- TNFRSF1B (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
- HGVS:
NC_000001.11:g.12208407G>C, NC_000001.10:g.12268464G>C, NG_029791.1:g.46405G>C, NM_001066.3:c.*1387G>C, NM_001066.2:c.*1387G>C, XM_011542060.3:c.*1387G>C, XM_011542060.2:c.*1387G>C, XM_011542060.1:c.*1387G>C, XM_011542063.3:c.*1387G>C, XM_011542063.2:c.*1387G>C, XM_011542063.1:c.*1387G>C, XM_047429424.1:c.*1387G>C, XM_047429423.1:c.*1387G>C, XM_047429422.1:c.*1387G>C