Links from Nucleotide
Items: 1 to 20 of 199
1.
rs1488191227 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 6:111503464
(GRCh38)
6:111824667
(GRCh37)
- Canonical SPDI:
- NC_000006.12:111503463:G:A
- Gene:
- TRAF3IP2-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
2.
rs1487704100 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 6:111503312
(GRCh38)
6:111824515
(GRCh37)
- Canonical SPDI:
- NC_000006.12:111503311:A:G,NC_000006.12:111503311:A:T
- Gene:
- TRAF3IP2-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000051/1
(
ALFA)
G=0.000015/2
(GnomAD_exomes)
- HGVS:
3.
rs1485799845 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 6:111484835
(GRCh38)
6:111806038
(GRCh37)
- Canonical SPDI:
- NC_000006.12:111484834:C:T
- Gene:
- REV3L (Varview), TRAF3IP2-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
4.
rs1484169094 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 6:111483653
(GRCh38)
6:111804856
(GRCh37)
- Canonical SPDI:
- NC_000006.12:111483652:G:A,NC_000006.12:111483652:G:T
- Gene:
- REV3L (Varview), TRAF3IP2-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
NC_000006.12:g.111483653G>A, NC_000006.12:g.111483653G>T, NC_000006.11:g.111804856G>A, NC_000006.11:g.111804856G>T, NG_053000.1:g.5063C>T, NG_053000.1:g.5063C>A, NM_002912.5:c.-396C>T, NM_002912.5:c.-396C>A, NM_002912.4:c.-396C>T, NM_002912.4:c.-396C>A, NM_001286431.2:c.-865C>T, NM_001286431.2:c.-865C>A, NM_001286431.1:c.-865C>T, NM_001286431.1:c.-865C>A, NM_001286432.2:c.-758C>T, NM_001286432.2:c.-758C>A, NM_001286432.1:c.-758C>T, NM_001286432.1:c.-758C>A, NR_034108.1:n.182G>A, NR_034108.1:n.182G>T, NR_034109.1:n.182G>A, NR_034109.1:n.182G>T, NR_034110.1:n.182G>A, NR_034110.1:n.182G>T, NR_034111.1:n.182G>A, NR_034111.1:n.182G>T
5.
rs1477895187 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- G>-,GG
[Show Flanks]
- Chromosome:
- 6:111483527
(GRCh38)
6:111804730
(GRCh37)
- Canonical SPDI:
- NC_000006.12:111483526:GGGGGG:GGGGG,NC_000006.12:111483526:GGGGGG:GGGGGGG
- Gene:
- REV3L (Varview), TRAF3IP2-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GGGGGGG=0./0
(
ALFA)
-=0.000009/1
(GnomAD_exomes)
- HGVS:
NC_000006.12:g.111483532del, NC_000006.12:g.111483532dup, NC_000006.11:g.111804735del, NC_000006.11:g.111804735dup, NG_053000.1:g.5189del, NG_053000.1:g.5189dup, NR_034108.1:n.61del, NR_034108.1:n.61dup, NR_034109.1:n.61del, NR_034109.1:n.61dup, NR_034110.1:n.61del, NR_034110.1:n.61dup, NR_034111.1:n.61del, NR_034111.1:n.61dup
6.
rs1476780449 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 6:111484789
(GRCh38)
6:111805992
(GRCh37)
- Canonical SPDI:
- NC_000006.12:111484788:G:A
- Gene:
- REV3L (Varview), TRAF3IP2-AS1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000014/2
(GnomAD)
A=0.000022/3
(GnomAD_exomes)
- HGVS:
7.
rs1473776680 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 6:111483505
(GRCh38)
6:111804708
(GRCh37)
- Canonical SPDI:
- NC_000006.12:111483504:GGG:GG
- Gene:
- REV3L (Varview), TRAF3IP2-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GG=0./0
(
ALFA)
-=0.000068/18
(TOPMED)
-=0.000082/11
(GnomAD)
- HGVS:
8.
rs1463817475 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 6:111483644
(GRCh38)
6:111804847
(GRCh37)
- Canonical SPDI:
- NC_000006.12:111483643:C:T
- Gene:
- REV3L (Varview), TRAF3IP2-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,5_prime_UTR_variant
- HGVS:
NC_000006.12:g.111483644C>T, NC_000006.11:g.111804847C>T, NG_053000.1:g.5072G>A, NM_002912.5:c.-387G>A, NM_002912.4:c.-387G>A, NM_001286431.2:c.-856G>A, NM_001286431.1:c.-856G>A, NM_001286432.2:c.-749G>A, NM_001286432.1:c.-749G>A, NR_034108.1:n.173C>T, NR_034109.1:n.173C>T, NR_034110.1:n.173C>T, NR_034111.1:n.173C>T
9.
rs1463494289 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 6:111484829
(GRCh38)
6:111806032
(GRCh37)
- Canonical SPDI:
- NC_000006.12:111484828:G:A
- Gene:
- REV3L (Varview), TRAF3IP2-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000007/1
(GnomAD_exomes)
- HGVS:
10.
rs1462426314 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 6:111483513
(GRCh38)
6:111804716
(GRCh37)
- Canonical SPDI:
- NC_000006.12:111483512:A:G,NC_000006.12:111483512:A:T
- Gene:
- REV3L (Varview), TRAF3IP2-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000085/1
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000008/1
(GnomAD)
T=0.000071/1
(TOMMO)
T=0.000566/1
(Korea1K)
G=0.020237/58
(KOREAN)
- HGVS:
NC_000006.12:g.111483513A>G, NC_000006.12:g.111483513A>T, NC_000006.11:g.111804716A>G, NC_000006.11:g.111804716A>T, NG_053000.1:g.5203T>C, NG_053000.1:g.5203T>A, NR_034108.1:n.42A>G, NR_034108.1:n.42A>T, NR_034109.1:n.42A>G, NR_034109.1:n.42A>T, NR_034110.1:n.42A>G, NR_034110.1:n.42A>T, NR_034111.1:n.42A>G, NR_034111.1:n.42A>T
12.
rs1454753142 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 6:111483573
(GRCh38)
6:111804776
(GRCh37)
- Canonical SPDI:
- NC_000006.12:111483572:G:T
- Gene:
- REV3L (Varview), TRAF3IP2-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
13.
rs1454616520 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 6:111503516
(GRCh38)
6:111824720
(GRCh37)
- Canonical SPDI:
- NC_000006.12:111503516:T:TT
- Gene:
- TRAF3IP2-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TT=0.000224/1
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000223/1
(Estonian)
- HGVS:
14.
rs1450696311 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 6:111483516
(GRCh38)
6:111804719
(GRCh37)
- Canonical SPDI:
- NC_000006.12:111483515:G:A
- Gene:
- REV3L (Varview), TRAF3IP2-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
15.
rs1449740634 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 6:111503317
(GRCh38)
6:111824520
(GRCh37)
- Canonical SPDI:
- NC_000006.12:111503316:C:T
- Gene:
- TRAF3IP2-AS1 (Varview)
- Functional Consequence:
- intron_variant,non_coding_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:
16.
rs1439439690 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 6:111483598
(GRCh38)
6:111804801
(GRCh37)
- Canonical SPDI:
- NC_000006.12:111483597:C:T
- Gene:
- REV3L (Varview), TRAF3IP2-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,splice_donor_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency
- MAF:
T=0.000017/2
(GnomAD_exomes)
- HGVS:
17.
rs1435459181 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 6:111483524
(GRCh38)
6:111804727
(GRCh37)
- Canonical SPDI:
- NC_000006.12:111483523:G:A
- Gene:
- REV3L (Varview), TRAF3IP2-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
18.
rs1433667535 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 6:111503594
(GRCh38)
6:111824797
(GRCh37)
- Canonical SPDI:
- NC_000006.12:111503593:A:C
- Gene:
- TRAF3IP2-AS1 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000026/7
(TOPMED)
C=0.000029/4
(GnomAD)
- HGVS:
20.
rs1430421003 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 6:111483635
(GRCh38)
6:111804838
(GRCh37)
- Canonical SPDI:
- NC_000006.12:111483634:G:A
- Gene:
- REV3L (Varview), TRAF3IP2-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000018/2
(GnomAD_exomes)
- HGVS:
NC_000006.12:g.111483635G>A, NC_000006.11:g.111804838G>A, NG_053000.1:g.5081C>T, NM_002912.5:c.-378C>T, NM_002912.4:c.-378C>T, NM_001286431.2:c.-847C>T, NM_001286431.1:c.-847C>T, NM_001286432.2:c.-740C>T, NM_001286432.1:c.-740C>T, NR_034108.1:n.164G>A, NR_034109.1:n.164G>A, NR_034110.1:n.164G>A, NR_034111.1:n.164G>A