Links from Gene
Items: 1 to 20 of 1000
1.
rs1491560396 has merged into rs1388847614 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- A>-,AA
[Show Flanks]
- Chromosome:
- 7:23520708
(GRCh38)
7:23560327
(GRCh37)
- Canonical SPDI:
- NC_000007.14:23520707:AAAAA:AAAA,NC_000007.14:23520707:AAAAA:AAAAAA
- Gene:
- TRA2A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAA=0./0
(
ALFA)
-=0.00644/108
(TOMMO)
-=0.01146/21
(Korea1K)
- HGVS:
2.
rs1491549868 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 7:23510332
(GRCh38)
7:23549951
(GRCh37)
- Canonical SPDI:
- NC_000007.14:23510330:TCT:T
- Gene:
- TRA2A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
-=0.000021/3
(GnomAD)
-=0.000026/7
(TOPMED)
- HGVS:
4.
rs1491424452 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AG>-
[Show Flanks]
- Chromosome:
- 7:23515566
(GRCh38)
7:23555185
(GRCh37)
- Canonical SPDI:
- NC_000007.14:23515563:AGAG:AG
- Gene:
- TRA2A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AGAG=0./0
(
ALFA)
-=0./0
(ALSPAC)
-=0.000004/1
(TOPMED)
-=0.00027/1
(TWINSUK)
- HGVS:
5.
rs1491409795 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 7:23520707
(GRCh38)
7:23560326
(GRCh37)
- Canonical SPDI:
- NC_000007.14:23520706:TA:
- Gene:
- TRA2A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.00021/4
(TOMMO)
- HGVS:
6.
rs1491373955 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AG>-
[Show Flanks]
- Chromosome:
- 7:23508297
(GRCh38)
7:23547916
(GRCh37)
- Canonical SPDI:
- NC_000007.14:23508296:AG:
- Gene:
- TRA2A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000015/2
(GnomAD)
- HGVS:
7.
rs1491370776 has merged into rs1257749497 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- C>-,CC
[Show Flanks]
- Chromosome:
- 7:23518691
(GRCh38)
7:23558310
(GRCh37)
- Canonical SPDI:
- NC_000007.14:23518690:CCCCC:CCCC,NC_000007.14:23518690:CCCCC:CCCCCC
- Gene:
- TRA2A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CCCCCC=0./0
(
ALFA)
C=0.00006/1
(TOMMO)
- HGVS:
8.
rs1491220267 has merged into rs567187750 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 7:23511378
(GRCh38)
7:23550997
(GRCh37)
- Canonical SPDI:
- NC_000007.14:23511370:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAA,NC_000007.14:23511370:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000007.14:23511370:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000007.14:23511370:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000007.14:23511370:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000007.14:23511370:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:23511370:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:23511370:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:23511370:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:23511370:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000007.14:23511370:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000007.14:23511370:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000007.14:23511370:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000007.14:23511370:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000007.14:23511370:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:23511370:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:23511370:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:23511370:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:23511370:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:23511370:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:23511370:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:23511370:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:23511370:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:23511370:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:23511370:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:23511370:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:23511370:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:23511370:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:23511370:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:23511370:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:23511370:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:23511370:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:23511370:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:23511370:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:23511370:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:23511370:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:23511370:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:23511370:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:23511370:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:23511370:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:23511370:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:23511370:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:23511370:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:23511370:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:23511370:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:23511370:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:23511370:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:23511370:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:23511370:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:23511370:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:23511370:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:23511370:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:23511370:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:23511370:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:23511370:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:23511370:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:23511370:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:23511370:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:23511370:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:23511370:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:23511370:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:23511370:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- TRA2A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAA=0./0
(
ALFA)
-=0.075/3
(GENOME_DK)
- HGVS:
NC_000007.14:g.23511378_23511410del, NC_000007.14:g.23511380_23511410del, NC_000007.14:g.23511381_23511410del, NC_000007.14:g.23511382_23511410del, NC_000007.14:g.23511383_23511410del, NC_000007.14:g.23511384_23511410del, NC_000007.14:g.23511385_23511410del, NC_000007.14:g.23511386_23511410del, NC_000007.14:g.23511387_23511410del, NC_000007.14:g.23511388_23511410del, NC_000007.14:g.23511389_23511410del, NC_000007.14:g.23511390_23511410del, NC_000007.14:g.23511391_23511410del, NC_000007.14:g.23511392_23511410del, NC_000007.14:g.23511393_23511410del, NC_000007.14:g.23511394_23511410del, NC_000007.14:g.23511395_23511410del, NC_000007.14:g.23511396_23511410del, NC_000007.14:g.23511397_23511410del, NC_000007.14:g.23511398_23511410del, NC_000007.14:g.23511399_23511410del, NC_000007.14:g.23511400_23511410del, NC_000007.14:g.23511401_23511410del, NC_000007.14:g.23511402_23511410del, NC_000007.14:g.23511403_23511410del, NC_000007.14:g.23511404_23511410del, NC_000007.14:g.23511405_23511410del, NC_000007.14:g.23511406_23511410del, NC_000007.14:g.23511407_23511410del, NC_000007.14:g.23511408_23511410del, NC_000007.14:g.23511409_23511410del, NC_000007.14:g.23511410del, NC_000007.14:g.23511410dup, NC_000007.14:g.23511409_23511410dup, NC_000007.14:g.23511408_23511410dup, NC_000007.14:g.23511407_23511410dup, NC_000007.14:g.23511406_23511410dup, NC_000007.14:g.23511405_23511410dup, NC_000007.14:g.23511404_23511410dup, NC_000007.14:g.23511403_23511410dup, NC_000007.14:g.23511402_23511410dup, NC_000007.14:g.23511401_23511410dup, NC_000007.14:g.23511400_23511410dup, NC_000007.14:g.23511399_23511410dup, NC_000007.14:g.23511398_23511410dup, NC_000007.14:g.23511397_23511410dup, NC_000007.14:g.23511396_23511410dup, NC_000007.14:g.23511395_23511410dup, NC_000007.14:g.23511394_23511410dup, NC_000007.14:g.23511393_23511410dup, NC_000007.14:g.23511392_23511410dup, NC_000007.14:g.23511391_23511410dup, NC_000007.14:g.23511390_23511410dup, NC_000007.14:g.23511389_23511410dup, NC_000007.14:g.23511388_23511410dup, NC_000007.14:g.23511387_23511410dup, NC_000007.14:g.23511386_23511410dup, NC_000007.14:g.23511385_23511410dup, NC_000007.14:g.23511383_23511410dup, NC_000007.14:g.23511381_23511410dup, NC_000007.14:g.23511379_23511410dup, NC_000007.14:g.23511374_23511410dup, NC_000007.13:g.23550997_23551029del, NC_000007.13:g.23550999_23551029del, NC_000007.13:g.23551000_23551029del, NC_000007.13:g.23551001_23551029del, NC_000007.13:g.23551002_23551029del, NC_000007.13:g.23551003_23551029del, NC_000007.13:g.23551004_23551029del, NC_000007.13:g.23551005_23551029del, NC_000007.13:g.23551006_23551029del, NC_000007.13:g.23551007_23551029del, NC_000007.13:g.23551008_23551029del, NC_000007.13:g.23551009_23551029del, NC_000007.13:g.23551010_23551029del, NC_000007.13:g.23551011_23551029del, NC_000007.13:g.23551012_23551029del, NC_000007.13:g.23551013_23551029del, NC_000007.13:g.23551014_23551029del, NC_000007.13:g.23551015_23551029del, NC_000007.13:g.23551016_23551029del, NC_000007.13:g.23551017_23551029del, NC_000007.13:g.23551018_23551029del, NC_000007.13:g.23551019_23551029del, NC_000007.13:g.23551020_23551029del, NC_000007.13:g.23551021_23551029del, NC_000007.13:g.23551022_23551029del, NC_000007.13:g.23551023_23551029del, NC_000007.13:g.23551024_23551029del, NC_000007.13:g.23551025_23551029del, NC_000007.13:g.23551026_23551029del, NC_000007.13:g.23551027_23551029del, NC_000007.13:g.23551028_23551029del, NC_000007.13:g.23551029del, NC_000007.13:g.23551029dup, NC_000007.13:g.23551028_23551029dup, NC_000007.13:g.23551027_23551029dup, NC_000007.13:g.23551026_23551029dup, NC_000007.13:g.23551025_23551029dup, NC_000007.13:g.23551024_23551029dup, NC_000007.13:g.23551023_23551029dup, NC_000007.13:g.23551022_23551029dup, NC_000007.13:g.23551021_23551029dup, NC_000007.13:g.23551020_23551029dup, NC_000007.13:g.23551019_23551029dup, NC_000007.13:g.23551018_23551029dup, NC_000007.13:g.23551017_23551029dup, NC_000007.13:g.23551016_23551029dup, NC_000007.13:g.23551015_23551029dup, NC_000007.13:g.23551014_23551029dup, NC_000007.13:g.23551013_23551029dup, NC_000007.13:g.23551012_23551029dup, NC_000007.13:g.23551011_23551029dup, NC_000007.13:g.23551010_23551029dup, NC_000007.13:g.23551009_23551029dup, NC_000007.13:g.23551008_23551029dup, NC_000007.13:g.23551007_23551029dup, NC_000007.13:g.23551006_23551029dup, NC_000007.13:g.23551005_23551029dup, NC_000007.13:g.23551004_23551029dup, NC_000007.13:g.23551002_23551029dup, NC_000007.13:g.23551000_23551029dup, NC_000007.13:g.23550998_23551029dup, NC_000007.13:g.23550993_23551029dup
9.
rs1491187551 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 7:23510331
(GRCh38)
7:23549951
(GRCh37)
- Canonical SPDI:
- NC_000007.14:23510331:C:CC
- Gene:
- TRA2A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
CC=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
10.
rs1491178220 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GC>-
[Show Flanks]
- Chromosome:
- 7:23505584
(GRCh38)
7:23545203
(GRCh37)
- Canonical SPDI:
- NC_000007.14:23505583:GC:
- Gene:
- TRA2A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.00018/3
(ExAC)
-=0.00022/3
(TOMMO)
- HGVS:
12.
rs1491055328 has merged into rs35844350 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTT>-,T,TT,TTTT,TTTTT,TTTTTTTT,TTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 7:23530920
(GRCh38)
7:23570539
(GRCh37)
- Canonical SPDI:
- NC_000007.14:23530909:TTTTTTTTTTTTT:TTTTTTTTTT,NC_000007.14:23530909:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000007.14:23530909:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000007.14:23530909:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:23530909:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:23530909:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000007.14:23530909:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- TRA2A (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTT=0./0
(
ALFA)
T=0.12999/501
(ALSPAC)
T=0.14213/527
(TWINSUK)
T=0.15167/91
(NorthernSweden)
T=0.21625/1083
(1000Genomes)
T=0.275/11
(GENOME_DK)
- HGVS:
NC_000007.14:g.23530920_23530922del, NC_000007.14:g.23530921_23530922del, NC_000007.14:g.23530922del, NC_000007.14:g.23530922dup, NC_000007.14:g.23530921_23530922dup, NC_000007.14:g.23530918_23530922dup, NC_000007.14:g.23530910_23530922dup, NC_000007.13:g.23570539_23570541del, NC_000007.13:g.23570540_23570541del, NC_000007.13:g.23570541del, NC_000007.13:g.23570541dup, NC_000007.13:g.23570540_23570541dup, NC_000007.13:g.23570537_23570541dup, NC_000007.13:g.23570529_23570541dup
13.
rs1491053680 has merged into rs5882904 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 7:23505596
(GRCh38)
7:23545215
(GRCh37)
- Canonical SPDI:
- NC_000007.14:23505585:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000007.14:23505585:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000007.14:23505585:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000007.14:23505585:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:23505585:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:23505585:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:23505585:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:23505585:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000007.14:23505585:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000007.14:23505585:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000007.14:23505585:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000007.14:23505585:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000007.14:23505585:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:23505585:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:23505585:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:23505585:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:23505585:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:23505585:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:23505585:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:23505585:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:23505585:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:23505585:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:23505585:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:23505585:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:23505585:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:23505585:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:23505585:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:23505585:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:23505585:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:23505585:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:23505585:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:23505585:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:23505585:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:23505585:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:23505585:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- TRA2A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000007.14:g.23505596_23505608del, NC_000007.14:g.23505597_23505608del, NC_000007.14:g.23505598_23505608del, NC_000007.14:g.23505599_23505608del, NC_000007.14:g.23505600_23505608del, NC_000007.14:g.23505601_23505608del, NC_000007.14:g.23505602_23505608del, NC_000007.14:g.23505603_23505608del, NC_000007.14:g.23505604_23505608del, NC_000007.14:g.23505605_23505608del, NC_000007.14:g.23505606_23505608del, NC_000007.14:g.23505607_23505608del, NC_000007.14:g.23505608del, NC_000007.14:g.23505608dup, NC_000007.14:g.23505607_23505608dup, NC_000007.14:g.23505606_23505608dup, NC_000007.14:g.23505605_23505608dup, NC_000007.14:g.23505604_23505608dup, NC_000007.14:g.23505603_23505608dup, NC_000007.14:g.23505602_23505608dup, NC_000007.14:g.23505601_23505608dup, NC_000007.14:g.23505600_23505608dup, NC_000007.14:g.23505599_23505608dup, NC_000007.14:g.23505598_23505608dup, NC_000007.14:g.23505597_23505608dup, NC_000007.14:g.23505596_23505608dup, NC_000007.14:g.23505595_23505608dup, NC_000007.14:g.23505594_23505608dup, NC_000007.14:g.23505593_23505608dup, NC_000007.14:g.23505592_23505608dup, NC_000007.14:g.23505591_23505608dup, NC_000007.14:g.23505590_23505608dup, NC_000007.14:g.23505589_23505608dup, NC_000007.14:g.23505588_23505608dup, NC_000007.14:g.23505586_23505608dup, NC_000007.13:g.23545215_23545227del, NC_000007.13:g.23545216_23545227del, NC_000007.13:g.23545217_23545227del, NC_000007.13:g.23545218_23545227del, NC_000007.13:g.23545219_23545227del, NC_000007.13:g.23545220_23545227del, NC_000007.13:g.23545221_23545227del, NC_000007.13:g.23545222_23545227del, NC_000007.13:g.23545223_23545227del, NC_000007.13:g.23545224_23545227del, NC_000007.13:g.23545225_23545227del, NC_000007.13:g.23545226_23545227del, NC_000007.13:g.23545227del, NC_000007.13:g.23545227dup, NC_000007.13:g.23545226_23545227dup, NC_000007.13:g.23545225_23545227dup, NC_000007.13:g.23545224_23545227dup, NC_000007.13:g.23545223_23545227dup, NC_000007.13:g.23545222_23545227dup, NC_000007.13:g.23545221_23545227dup, NC_000007.13:g.23545220_23545227dup, NC_000007.13:g.23545219_23545227dup, NC_000007.13:g.23545218_23545227dup, NC_000007.13:g.23545217_23545227dup, NC_000007.13:g.23545216_23545227dup, NC_000007.13:g.23545215_23545227dup, NC_000007.13:g.23545214_23545227dup, NC_000007.13:g.23545213_23545227dup, NC_000007.13:g.23545212_23545227dup, NC_000007.13:g.23545211_23545227dup, NC_000007.13:g.23545210_23545227dup, NC_000007.13:g.23545209_23545227dup, NC_000007.13:g.23545208_23545227dup, NC_000007.13:g.23545207_23545227dup, NC_000007.13:g.23545205_23545227dup
14.
rs1491019261 has merged into rs67642004 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 7:23508285
(GRCh38)
7:23547904
(GRCh37)
- Canonical SPDI:
- NC_000007.14:23508275:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000007.14:23508275:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000007.14:23508275:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000007.14:23508275:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000007.14:23508275:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:23508275:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:23508275:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000007.14:23508275:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000007.14:23508275:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000007.14:23508275:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000007.14:23508275:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000007.14:23508275:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:23508275:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:23508275:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:23508275:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:23508275:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:23508275:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- TRA2A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAA=0./0
(
ALFA)
-=0.000011/3
(TOPMED)
- HGVS:
NC_000007.14:g.23508285_23508297del, NC_000007.14:g.23508286_23508297del, NC_000007.14:g.23508287_23508297del, NC_000007.14:g.23508288_23508297del, NC_000007.14:g.23508289_23508297del, NC_000007.14:g.23508292_23508297del, NC_000007.14:g.23508293_23508297del, NC_000007.14:g.23508294_23508297del, NC_000007.14:g.23508295_23508297del, NC_000007.14:g.23508296_23508297del, NC_000007.14:g.23508297del, NC_000007.14:g.23508297dup, NC_000007.14:g.23508296_23508297dup, NC_000007.14:g.23508295_23508297dup, NC_000007.14:g.23508294_23508297dup, NC_000007.14:g.23508293_23508297dup, NC_000007.14:g.23508290_23508297dup, NC_000007.13:g.23547904_23547916del, NC_000007.13:g.23547905_23547916del, NC_000007.13:g.23547906_23547916del, NC_000007.13:g.23547907_23547916del, NC_000007.13:g.23547908_23547916del, NC_000007.13:g.23547911_23547916del, NC_000007.13:g.23547912_23547916del, NC_000007.13:g.23547913_23547916del, NC_000007.13:g.23547914_23547916del, NC_000007.13:g.23547915_23547916del, NC_000007.13:g.23547916del, NC_000007.13:g.23547916dup, NC_000007.13:g.23547915_23547916dup, NC_000007.13:g.23547914_23547916dup, NC_000007.13:g.23547913_23547916dup, NC_000007.13:g.23547912_23547916dup, NC_000007.13:g.23547909_23547916dup
15.
rs1491017041 has merged into rs11415684 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 7:23529865
(GRCh38)
7:23569484
(GRCh37)
- Canonical SPDI:
- NC_000007.14:23529853:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000007.14:23529853:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000007.14:23529853:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:23529853:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:23529853:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:23529853:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000007.14:23529853:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000007.14:23529853:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000007.14:23529853:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000007.14:23529853:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- TRA2A (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTT=0./0
(
ALFA)
T=0.3039/1522
(1000Genomes)
- HGVS:
NC_000007.14:g.23529865_23529868del, NC_000007.14:g.23529866_23529868del, NC_000007.14:g.23529867_23529868del, NC_000007.14:g.23529868del, NC_000007.14:g.23529868dup, NC_000007.14:g.23529867_23529868dup, NC_000007.14:g.23529866_23529868dup, NC_000007.14:g.23529865_23529868dup, NC_000007.14:g.23529864_23529868dup, NC_000007.14:g.23529856_23529868dup, NC_000007.13:g.23569484_23569487del, NC_000007.13:g.23569485_23569487del, NC_000007.13:g.23569486_23569487del, NC_000007.13:g.23569487del, NC_000007.13:g.23569487dup, NC_000007.13:g.23569486_23569487dup, NC_000007.13:g.23569485_23569487dup, NC_000007.13:g.23569484_23569487dup, NC_000007.13:g.23569483_23569487dup, NC_000007.13:g.23569475_23569487dup
16.
rs1490849525 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C,G
[Show Flanks]
- Chromosome:
- 7:23519858
(GRCh38)
7:23559477
(GRCh37)
- Canonical SPDI:
- NC_000007.14:23519857:T:A,NC_000007.14:23519857:T:C,NC_000007.14:23519857:T:G
- Gene:
- TRA2A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
C=0.000014/2
(GnomAD)
C=0.000142/2
(TOMMO)
C=0.000546/1
(Korea1K)
A=0.001339/6
(Estonian)
- HGVS:
17.
rs1490836094 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CAA>-
[Show Flanks]
- Chromosome:
- 7:23505365
(GRCh38)
7:23544984
(GRCh37)
- Canonical SPDI:
- NC_000007.14:23505360:ACAACAA:ACAA
- Gene:
- TRA2A (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACAA=0.000084/1
(
ALFA)
-=0.000008/2
(TOPMED)
-=0.000014/2
(GnomAD)
- HGVS:
NC_000007.14:g.23505362CAA[1], NC_000007.13:g.23544981CAA[1], NM_013293.5:c.*193TGT[1], NM_013293.4:c.*193TGT[1], NM_013293.3:c.*193TGT[1], NM_001362761.2:c.*193TGT[1], NM_001362761.1:c.*193TGT[1], NM_001282759.2:c.*193TGT[1], NM_001282759.1:c.*193TGT[1], NM_001362760.2:c.*193TGT[1], NM_001362760.1:c.*193TGT[1], NM_001282757.2:c.*193TGT[1], NM_001282757.1:c.*193TGT[1], NM_001282758.2:c.*193TGT[1], NM_001282758.1:c.*193TGT[1], NM_001362759.2:c.*193TGT[1], NM_001362759.1:c.*193TGT[1], XM_047420284.1:c.*193TGT[1], XM_047420285.1:c.*193TGT[1]
18.
rs1490827544 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 7:23505593
(GRCh38)
7:23545212
(GRCh37)
- Canonical SPDI:
- NC_000007.14:23505592:A:G
- Gene:
- TRA2A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
19.
rs1490809153 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 7:23507208
(GRCh38)
7:23546827
(GRCh37)
- Canonical SPDI:
- NC_000007.14:23507207:C:G
- Gene:
- TRA2A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000066/1
(
ALFA)
G=0.000011/3
(TOPMED)
G=0.000223/1
(Estonian)
- HGVS:
20.
rs1490636325 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 7:23506335
(GRCh38)
7:23545954
(GRCh37)
- Canonical SPDI:
- NC_000007.14:23506334:G:T
- Gene:
- TRA2A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS: