Links from Gene
Items: 1 to 20 of 1000
1.
rs1491433185 has merged into rs1179674998 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CG>-,CGCG
[Show Flanks]
- Chromosome:
- 2:86828339
(GRCh38)
2:87055462
(GRCh37)
- Canonical SPDI:
- NC_000002.12:86828337:GCG:G,NC_000002.12:86828337:GCG:GCGCG
- Gene:
- CD8B (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GCGCG=0.000084/1
(
ALFA)
GC=0.000057/8
(GnomAD)
-=0.003114/12
(ALSPAC)
-=0.005663/21
(TWINSUK)
- HGVS:
2.
rs1491116314 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 2:86823991
(GRCh38)
2:87051114
(GRCh37)
- Canonical SPDI:
- NC_000002.12:86823990:AT:
- Gene:
- CD8B (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000023/6
(TOPMED)
-=0.000036/5
(GnomAD)
- HGVS:
3.
rs1491090439 has merged into rs67145087 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTT>-,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 2:86826834
(GRCh38)
2:87053957
(GRCh37)
- Canonical SPDI:
- NC_000002.12:86826824:TTTTTTTTTTTTTTT:TTTTTTTTT,NC_000002.12:86826824:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:86826824:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:86826824:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:86826824:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:86826824:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:86826824:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:86826824:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT
- Gene:
- CD8B (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.1961/982
(1000Genomes)
- HGVS:
NC_000002.12:g.86826834_86826839del, NC_000002.12:g.86826837_86826839del, NC_000002.12:g.86826838_86826839del, NC_000002.12:g.86826839del, NC_000002.12:g.86826839dup, NC_000002.12:g.86826838_86826839dup, NC_000002.12:g.86826837_86826839dup, NC_000002.12:g.86826833_86826839dup, NC_000002.11:g.87053957_87053962del, NC_000002.11:g.87053960_87053962del, NC_000002.11:g.87053961_87053962del, NC_000002.11:g.87053962del, NC_000002.11:g.87053962dup, NC_000002.11:g.87053961_87053962dup, NC_000002.11:g.87053960_87053962dup, NC_000002.11:g.87053956_87053962dup, NM_001013677.1:c.*574dup, NM_001013677.1:c.*570_*574del, NM_001013677.1:c.*573_*574del, NM_001013677.1:c.*574del, NM_001013677.1:c.*573_*574dup, NM_001013677.1:c.*572_*574dup, NM_001013677.1:c.*571_*574dup, NM_001013677.1:c.*567_*574dup
4.
rs1490979041 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G
[Show Flanks]
- Chromosome:
- 2:86856761
(GRCh38)
2:87083884
(GRCh37)
- Canonical SPDI:
- NC_000002.12:86856760:C:A,NC_000002.12:86856760:C:G
- Gene:
- CD8B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
6.
rs1490950380 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C,T
[Show Flanks]
- Chromosome:
- 2:86855858
(GRCh38)
2:87082981
(GRCh37)
- Canonical SPDI:
- NC_000002.12:86855857:G:A,NC_000002.12:86855857:G:C,NC_000002.12:86855857:G:T
- Gene:
- CD8B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
7.
rs1490917463 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 2:86840749
(GRCh38)
2:87067872
(GRCh37)
- Canonical SPDI:
- NC_000002.12:86840748:C:G
- Gene:
- CD8B (Varview)
- Functional Consequence:
- intron_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000071/1
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
9.
rs1490782883 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 2:86833816
(GRCh38)
2:87060939
(GRCh37)
- Canonical SPDI:
- NC_000002.12:86833815:A:C
- Gene:
- CD8B (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000014/2
(GnomAD)
- HGVS:
11.
rs1490730862 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:86860412
(GRCh38)
2:87087535
(GRCh37)
- Canonical SPDI:
- NC_000002.12:86860411:C:T
- Gene:
- CD8B (Varview), ANAPC1P1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000014/2
(GnomAD)
T=0.000015/4
(TOPMED)
- HGVS:
12.
rs1490700331 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 2:86862399
(GRCh38)
2:87089522
(GRCh37)
- Canonical SPDI:
- NC_000002.12:86862398:G:C
- Gene:
- CD8B (Varview), ANAPC1P1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency
- MAF:
C=0.000007/1
(GnomAD)
- HGVS:
13.
rs1490617205 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 2:86833607
(GRCh38)
2:87060730
(GRCh37)
- Canonical SPDI:
- NC_000002.12:86833606:A:C,NC_000002.12:86833606:A:G
- Gene:
- CD8B (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
C=0.06931/196
(KOREAN)
- HGVS:
14.
rs1490563803 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 2:86818128
(GRCh38)
2:87045251
(GRCh37)
- Canonical SPDI:
- NC_000002.12:86818127:T:G
- Gene:
- CD8B (Varview), LOC105374846 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
16.
rs1490511249 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:86826050
(GRCh38)
2:87053173
(GRCh37)
- Canonical SPDI:
- NC_000002.12:86826049:G:A
- Gene:
- CD8B (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
17.
rs1490486597 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:86830031
(GRCh38)
2:87057154
(GRCh37)
- Canonical SPDI:
- NC_000002.12:86830030:C:T
- Gene:
- CD8B (Varview)
- Functional Consequence:
- intron_variant,genic_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:
18.
rs1490422842 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:86862874
(GRCh38)
2:87089997
(GRCh37)
- Canonical SPDI:
- NC_000002.12:86862873:C:T
- Gene:
- CD8B (Varview), ANAPC1P1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
19.
rs1490345627 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- A>-
[Show Flanks]
- Chromosome:
- 2:86825704
(GRCh38)
2:87052827
(GRCh37)
- Canonical SPDI:
- NC_000002.12:86825703:AA:A
- Gene:
- CD8B (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AA=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
20.
rs1490210969 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:86863510
(GRCh38)
2:87090633
(GRCh37)
- Canonical SPDI:
- NC_000002.12:86863509:T:C
- Gene:
- CD8B (Varview), ANAPC1P1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000546/1
(Korea1K)
- HGVS: