Links from Gene
Items: 1 to 20 of 10952
2.
rs1491388918 has merged into rs60040858 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GGG>-,GG,GGGG,GGGGG
[Show Flanks]
- Chromosome:
- 7:38346152
(GRCh38)
7:38385753
(GRCh37)
- Canonical SPDI:
- NC_000007.14:38346146:GGGGGGGG:GGGGG,NC_000007.14:38346146:GGGGGGGG:GGGGGGG,NC_000007.14:38346146:GGGGGGGG:GGGGGGGGG,NC_000007.14:38346146:GGGGGGGG:GGGGGGGGGG
- Gene:
- TRG-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GGGGGGGGGG=0./0
(
ALFA)
-=0.10756/491
(1000Genomes)
G=0.12518/518
(Estonian)
- HGVS:
NC_000007.14:g.38346152_38346154del, NC_000007.14:g.38346154del, NC_000007.14:g.38346154dup, NC_000007.14:g.38346153_38346154dup, NC_000007.13:g.38385753_38385755del, NC_000007.13:g.38385755del, NC_000007.13:g.38385755dup, NC_000007.13:g.38385754_38385755dup, NG_001336.2:g.27799_27801del, NG_001336.2:g.27801del, NG_001336.2:g.27801dup, NG_001336.2:g.27800_27801dup
3.
rs1491358135 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GA
[Show Flanks]
- Chromosome:
- 7:38353148
(GRCh38)
7:38392750
(GRCh37)
- Canonical SPDI:
- NC_000007.14:38353148:A:AGA
- Gene:
- TRG-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AGA=0./0
(
ALFA)
AG=0.000053/6
(GnomAD)
- HGVS:
4.
rs1491357615 has merged into rs1554325437 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 7:38376786
(GRCh38)
7:38416388
(GRCh37)
- Canonical SPDI:
- NC_000007.14:38376786:C:CC
- Gene:
- TRG-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CC=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.005663/21
(TWINSUK)
C=0.005708/22
(ALSPAC)
- HGVS:
5.
rs1491184707 has merged into rs1344493803 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAA>-,A,AA,AAAAA
[Show Flanks]
- Chromosome:
- 7:38353151
(GRCh38)
7:38392752
(GRCh37)
- Canonical SPDI:
- NC_000007.14:38353147:AAAAAAA:AAA,NC_000007.14:38353147:AAAAAAA:AAAA,NC_000007.14:38353147:AAAAAAA:AAAAA,NC_000007.14:38353147:AAAAAAA:AAAAAAAA
- Gene:
- TRG-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAA=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
A=0.000009/1
(GnomAD)
-=0.000039/1
(TOMMO)
- HGVS:
NC_000007.14:g.38353151_38353154del, NC_000007.14:g.38353152_38353154del, NC_000007.14:g.38353153_38353154del, NC_000007.14:g.38353154dup, NC_000007.13:g.38392752_38392755del, NC_000007.13:g.38392753_38392755del, NC_000007.13:g.38392754_38392755del, NC_000007.13:g.38392755dup, NG_001336.2:g.20797_20800del, NG_001336.2:g.20798_20800del, NG_001336.2:g.20799_20800del, NG_001336.2:g.20800dup
6.
rs1490973723 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 7:38357135
(GRCh38)
7:38396736
(GRCh37)
- Canonical SPDI:
- NC_000007.14:38357134:A:G
- Gene:
- TRG-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000008/1
(GnomAD)
- HGVS:
7.
rs1490894135 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 7:38346213
(GRCh38)
7:38385814
(GRCh37)
- Canonical SPDI:
- NC_000007.14:38346212:A:G
- Gene:
- TRG-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.00005/7
(GnomAD)
G=0.000121/32
(TOPMED)
- HGVS:
8.
rs1490879414 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 7:38347270
(GRCh38)
7:38386871
(GRCh37)
- Canonical SPDI:
- NC_000007.14:38347269:G:A,NC_000007.14:38347269:G:T
- Gene:
- TRG-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
9.
rs1490829007 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 7:38345891
(GRCh38)
7:38385492
(GRCh37)
- Canonical SPDI:
- NC_000007.14:38345890:G:A,NC_000007.14:38345890:G:C
- Gene:
- TRG-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.000008/1
(GnomAD)
C=0.000034/9
(TOPMED)
- HGVS:
10.
rs1490767893 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 7:38351318
(GRCh38)
7:38390919
(GRCh37)
- Canonical SPDI:
- NC_000007.14:38351317:A:T
- Gene:
- TRG-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000008/1
(GnomAD)
- HGVS:
11.
rs1490719246 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 7:38341156
(GRCh38)
7:38380757
(GRCh37)
- Canonical SPDI:
- NC_000007.14:38341155:C:A,NC_000007.14:38341155:C:T
- Gene:
- TRG-AS1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000019/5
(TOPMED)
- HGVS:
12.
rs1490663537 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GA
[Show Flanks]
- Chromosome:
- 7:38346505
(GRCh38)
7:38386107
(GRCh37)
- Canonical SPDI:
- NC_000007.14:38346505:AGAGA:AGAGAGA
- Gene:
- TRG-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
AG=0.000007/1
(GnomAD)
- HGVS:
13.
rs1490660133 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 7:38350221
(GRCh38)
7:38389822
(GRCh37)
- Canonical SPDI:
- NC_000007.14:38350220:C:T
- Gene:
- TRG-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/1
(GnomAD)
- HGVS:
14.
rs1490616644 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 7:38361207
(GRCh38)
7:38400808
(GRCh37)
- Canonical SPDI:
- NC_000007.14:38361206:T:C
- Gene:
- TRG-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000035/1
(TOMMO)
- HGVS:
15.
rs1490603159 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 7:38350942
(GRCh38)
7:38390543
(GRCh37)
- Canonical SPDI:
- NC_000007.14:38350941:G:C
- Gene:
- TRG-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000008/1
(GnomAD)
- HGVS:
16.
rs1490529674 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G
[Show Flanks]
- Chromosome:
- 7:38353702
(GRCh38)
7:38393303
(GRCh37)
- Canonical SPDI:
- NC_000007.14:38353701:C:A,NC_000007.14:38353701:C:G
- Gene:
- TRG-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.00001/2
(GnomAD_exomes)
A=0.000312/2
(1000Genomes)
- HGVS:
17.
rs1490525228 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C,G
[Show Flanks]
- Chromosome:
- 7:38339851
(GRCh38)
7:38379452
(GRCh37)
- Canonical SPDI:
- NC_000007.14:38339850:T:A,NC_000007.14:38339850:T:C,NC_000007.14:38339850:T:G
- Gene:
- TRG-AS1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
- HGVS:
19.
rs1490422143 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 7:38361911
(GRCh38)
7:38401512
(GRCh37)
- Canonical SPDI:
- NC_000007.14:38361910:C:A
- Gene:
- TRG-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
20.
rs1490402779 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 7:38357418
(GRCh38)
7:38397019
(GRCh37)
- Canonical SPDI:
- NC_000007.14:38357417:A:G
- Gene:
- TRG-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000024/3
(GnomAD)
- HGVS: