Links from Gene
Items: 1 to 20 of 698
1.
rs1491348681 has merged into rs3060717 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAA>-,A,AA,AAA,AAAAA,AAAAAA
[Show Flanks]
- Chromosome:
- 5:140710393
(GRCh38)
5:140089978
(GRCh37)
- Canonical SPDI:
- NC_000005.10:140710385:AAAAAAAAAAA:AAAAAAA,NC_000005.10:140710385:AAAAAAAAAAA:AAAAAAAA,NC_000005.10:140710385:AAAAAAAAAAA:AAAAAAAAA,NC_000005.10:140710385:AAAAAAAAAAA:AAAAAAAAAA,NC_000005.10:140710385:AAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:140710385:AAAAAAAAAAA:AAAAAAAAAAAAA
- Gene:
- VTRNA1-1 (Varview), LOC105378198 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAA=0./0
(
ALFA)
-=0.44/264
(NorthernSweden)
-=0.4728/2368
(1000Genomes)
- HGVS:
NC_000005.10:g.140710393_140710396del, NC_000005.10:g.140710394_140710396del, NC_000005.10:g.140710395_140710396del, NC_000005.10:g.140710396del, NC_000005.10:g.140710396dup, NC_000005.10:g.140710395_140710396dup, NC_000005.9:g.140089978_140089981del, NC_000005.9:g.140089979_140089981del, NC_000005.9:g.140089980_140089981del, NC_000005.9:g.140089981del, NC_000005.9:g.140089981dup, NC_000005.9:g.140089980_140089981dup
3.
rs1489263097 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 5:140710296
(GRCh38)
5:140089881
(GRCh37)
- Canonical SPDI:
- NC_000005.10:140710295:A:G
- Gene:
- VTRNA1-1 (Varview), LOC105378198 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
4.
rs1487125598 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 5:140710818
(GRCh38)
5:140090403
(GRCh37)
- Canonical SPDI:
- NC_000005.10:140710817:G:A,NC_000005.10:140710817:G:C
- Gene:
- VTRNA1-1 (Varview), LOC105378198 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
5.
rs1486018755 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 5:140709562
(GRCh38)
5:140089147
(GRCh37)
- Canonical SPDI:
- NC_000005.10:140709561:G:A,NC_000005.10:140709561:G:C
- Gene:
- VTRNA1-1 (Varview), LOC105378198 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
A=0.000035/1
(TOMMO)
- HGVS:
7.
rs1484001364 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 5:140709849
(GRCh38)
5:140089434
(GRCh37)
- Canonical SPDI:
- NC_000005.10:140709848:G:A,NC_000005.10:140709848:G:T
- Gene:
- VTRNA1-1 (Varview), LOC105378198 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.00007/2
(TOMMO)
A=0.00103/3
(KOREAN)
A=0.00109/2
(Korea1K)
- HGVS:
9.
rs1483184913 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 5:140709315
(GRCh38)
5:140088900
(GRCh37)
- Canonical SPDI:
- NC_000005.10:140709314:C:G
- Gene:
- VTRNA1-1 (Varview), LOC105378198 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0./0
(KOREAN)
G=0.000004/1
(TOPMED)
G=0.000546/1
(Korea1K)
- HGVS:
10.
rs1482743186 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- A>-
[Show Flanks]
- Chromosome:
- 5:140711614
(GRCh38)
5:140091199
(GRCh37)
- Canonical SPDI:
- NC_000005.10:140711613:A:
- Gene:
- VTRNA1-1 (Varview), LOC105378198 (Varview)
- Functional Consequence:
- 500B_downstream_variant,intron_variant,genic_upstream_transcript_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000011/3
(TOPMED)
- HGVS:
11.
rs1482403027 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 5:140710361
(GRCh38)
5:140089947
(GRCh37)
- Canonical SPDI:
- NC_000005.10:140710361:GG:GGG
- Gene:
- VTRNA1-1 (Varview), LOC105378198 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GGG=0.00061/10
(
ALFA)
G=0.00223/10
(Estonian)
- HGVS:
12.
rs1482354206 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 5:140710622
(GRCh38)
5:140090207
(GRCh37)
- Canonical SPDI:
- NC_000005.10:140710621:C:T
- Gene:
- VTRNA1-1 (Varview), LOC105378198 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_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.
rs1482057287 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 5:140710527
(GRCh38)
5:140090112
(GRCh37)
- Canonical SPDI:
- NC_000005.10:140710526:C:A
- Gene:
- VTRNA1-1 (Varview), LOC105378198 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000043/6
(GnomAD)
A=0.000087/23
(TOPMED)
A=0.000156/1
(1000Genomes)
A=0.001168/20
(TOMMO)
A=0.002396/7
(KOREAN)
A=0.003275/6
(Korea1K)
- HGVS:
14.
rs1480773021 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 5:140711057
(GRCh38)
5:140090642
(GRCh37)
- Canonical SPDI:
- NC_000005.10:140711056:G:C
- Gene:
- VTRNA1-1 (Varview), LOC105378198 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
15.
rs1478715901 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 5:140709662
(GRCh38)
5:140089247
(GRCh37)
- Canonical SPDI:
- NC_000005.10:140709661:C:G
- Gene:
- VTRNA1-1 (Varview), LOC105378198 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000015/4
(TOPMED)
- HGVS:
16.
rs1478689830 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 5:140711613
(GRCh38)
5:140091198
(GRCh37)
- Canonical SPDI:
- NC_000005.10:140711612:C:T
- Gene:
- VTRNA1-1 (Varview), LOC105378198 (Varview)
- Functional Consequence:
- downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
17.
rs1477098430 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAG>-
[Show Flanks]
- Chromosome:
- 5:140711038
(GRCh38)
5:140090623
(GRCh37)
- Canonical SPDI:
- NC_000005.10:140711035:AGAAG:AG
- Gene:
- VTRNA1-1 (Varview), LOC105378198 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AG=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
-=0.000014/2
(GnomAD)
- HGVS:
18.
rs1476590242 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 5:140711607
(GRCh38)
5:140091192
(GRCh37)
- Canonical SPDI:
- NC_000005.10:140711606:T:G
- Gene:
- VTRNA1-1 (Varview), LOC105378198 (Varview)
- Functional Consequence:
- downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000015/4
(TOPMED)
G=0.000029/4
(GnomAD)
- HGVS:
19.
rs1475647479 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 5:140709297
(GRCh38)
5:140088882
(GRCh37)
- Canonical SPDI:
- NC_000005.10:140709296:A:C,NC_000005.10:140709296:A:G
- Gene:
- VTRNA1-1 (Varview), LOC105378198 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.00328/6
(Korea1K)
- HGVS:
20.
rs1475467659 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 5:140710600
(GRCh38)
5:140090185
(GRCh37)
- Canonical SPDI:
- NC_000005.10:140710599:G:C
- Gene:
- VTRNA1-1 (Varview), LOC105378198 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS: