Links from Gene
Items: 1 to 20 of 1546
1.
rs1491019011 has merged into rs59290111 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 15:90350692
(GRCh38)
15:90893924
(GRCh37)
- Canonical SPDI:
- NC_000015.10:90350682:TTTTTTTTTTTT:TTTTTTTTT,NC_000015.10:90350682:TTTTTTTTTTTT:TTTTTTTTTT,NC_000015.10:90350682:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000015.10:90350682:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000015.10:90350682:TTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000015.10:90350682:TTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000015.10:90350682:TTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000015.10:90350682:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000015.10:90350682:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000015.10:90350682:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000015.10:90350682:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000015.10:90350682:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:90350682:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- GABARAPL3 (Varview), ZNF774 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTT=0./0
(
ALFA)
-=0.00011/29
(TOPMED)
T=0.245407/1229
(1000Genomes)
- HGVS:
NC_000015.10:g.90350692_90350694del, NC_000015.10:g.90350693_90350694del, NC_000015.10:g.90350694del, NC_000015.10:g.90350694dup, NC_000015.10:g.90350693_90350694dup, NC_000015.10:g.90350692_90350694dup, NC_000015.10:g.90350691_90350694dup, NC_000015.10:g.90350690_90350694dup, NC_000015.10:g.90350689_90350694dup, NC_000015.10:g.90350687_90350694dup, NC_000015.10:g.90350686_90350694dup, NC_000015.10:g.90350694_90350695insTTTTTTTTTTTTT, NC_000015.10:g.90350694_90350695insTTTTTTTTTTTTTTT, NC_000015.9:g.90893924_90893926del, NC_000015.9:g.90893925_90893926del, NC_000015.9:g.90893926del, NC_000015.9:g.90893926dup, NC_000015.9:g.90893925_90893926dup, NC_000015.9:g.90893924_90893926dup, NC_000015.9:g.90893923_90893926dup, NC_000015.9:g.90893922_90893926dup, NC_000015.9:g.90893921_90893926dup, NC_000015.9:g.90893919_90893926dup, NC_000015.9:g.90893918_90893926dup, NC_000015.9:g.90893926_90893927insTTTTTTTTTTTTT, NC_000015.9:g.90893926_90893927insTTTTTTTTTTTTTTT
3.
rs1490627891 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 15:90346137
(GRCh38)
15:90889369
(GRCh37)
- Canonical SPDI:
- NC_000015.10:90346136:T:C
- Gene:
- GABARAPL3 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000023/6
(TOPMED)
C=0.000029/4
(GnomAD)
- HGVS:
4.
rs1490273067 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 15:90348825
(GRCh38)
15:90892057
(GRCh37)
- Canonical SPDI:
- NC_000015.10:90348824:C:G
- Gene:
- GABARAPL3 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency
- MAF:
G=0.000004/1
(GnomAD_exomes)
- HGVS:
5.
rs1489930228 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 15:90349907
(GRCh38)
15:90893139
(GRCh37)
- Canonical SPDI:
- NC_000015.10:90349906:C:T
- Gene:
- GABARAPL3 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000035/1
(TOMMO)
- HGVS:
6.
rs1489608343 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 15:90350678
(GRCh38)
15:90893910
(GRCh37)
- Canonical SPDI:
- NC_000015.10:90350677:C:A,NC_000015.10:90350677:C:T
- Gene:
- GABARAPL3 (Varview), ZNF774 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.00032/5
(TOMMO)
- HGVS:
7.
rs1489414021 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 15:90346909
(GRCh38)
15:90890141
(GRCh37)
- Canonical SPDI:
- NC_000015.10:90346908:T:A,NC_000015.10:90346908:T:C
- Gene:
- GABARAPL3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
- HGVS:
8.
rs1489302687 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 15:90347587
(GRCh38)
15:90890819
(GRCh37)
- Canonical SPDI:
- NC_000015.10:90347586:C:T
- Gene:
- GABARAPL3 (Varview)
- Functional Consequence:
- splice_donor_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
9.
rs1488166079 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- T>-
[Show Flanks]
- Chromosome:
- 15:90346032
(GRCh38)
15:90889264
(GRCh37)
- Canonical SPDI:
- NC_000015.10:90346031:T:
- Gene:
- GABARAPL3 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.000071/1
(
ALFA)
-=0.000008/2
(TOPMED)
- HGVS:
10.
rs1487805848 has merged into rs56917694 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 15:90351402
(GRCh38)
15:90894634
(GRCh37)
- Canonical SPDI:
- NC_000015.10:90351389:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000015.10:90351389:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000015.10:90351389:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000015.10:90351389:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000015.10:90351389:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000015.10:90351389:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000015.10:90351389:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000015.10:90351389:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000015.10:90351389:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:90351389:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:90351389:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:90351389:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:90351389:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:90351389:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:90351389:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:90351389:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:90351389:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- GABARAPL3 (Varview), ZNF774 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAA=0./0
(
ALFA)
-=0.225/9
(GENOME_DK)
-=0.4884/2446
(1000Genomes)
- HGVS:
NC_000015.10:g.90351402_90351410del, NC_000015.10:g.90351403_90351410del, NC_000015.10:g.90351404_90351410del, NC_000015.10:g.90351405_90351410del, NC_000015.10:g.90351407_90351410del, NC_000015.10:g.90351408_90351410del, NC_000015.10:g.90351409_90351410del, NC_000015.10:g.90351410del, NC_000015.10:g.90351410dup, NC_000015.10:g.90351409_90351410dup, NC_000015.10:g.90351408_90351410dup, NC_000015.10:g.90351407_90351410dup, NC_000015.10:g.90351406_90351410dup, NC_000015.10:g.90351405_90351410dup, NC_000015.10:g.90351404_90351410dup, NC_000015.10:g.90351403_90351410dup, NC_000015.10:g.90351402_90351410dup, NC_000015.9:g.90894634_90894642del, NC_000015.9:g.90894635_90894642del, NC_000015.9:g.90894636_90894642del, NC_000015.9:g.90894637_90894642del, NC_000015.9:g.90894639_90894642del, NC_000015.9:g.90894640_90894642del, NC_000015.9:g.90894641_90894642del, NC_000015.9:g.90894642del, NC_000015.9:g.90894642dup, NC_000015.9:g.90894641_90894642dup, NC_000015.9:g.90894640_90894642dup, NC_000015.9:g.90894639_90894642dup, NC_000015.9:g.90894638_90894642dup, NC_000015.9:g.90894637_90894642dup, NC_000015.9:g.90894636_90894642dup, NC_000015.9:g.90894635_90894642dup, NC_000015.9:g.90894634_90894642dup
11.
rs1487663956 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 15:90347447
(GRCh38)
15:90890679
(GRCh37)
- Canonical SPDI:
- NC_000015.10:90347446:A:T
- Gene:
- GABARAPL3 (Varview)
- Functional Consequence:
- 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:
12.
rs1487591138 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G
[Show Flanks]
- Chromosome:
- 15:90347102
(GRCh38)
15:90890334
(GRCh37)
- Canonical SPDI:
- NC_000015.10:90347101:C:A,NC_000015.10:90347101:C:G
- Gene:
- GABARAPL3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.00559/25
(
ALFA)
G=0.00004/1
(TOMMO)
- HGVS:
13.
rs1487497794 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 15:90349198
(GRCh38)
15:90892430
(GRCh37)
- Canonical SPDI:
- NC_000015.10:90349197:G:A
- Gene:
- GABARAPL3 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
14.
rs1487035855 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 15:90349393
(GRCh38)
15:90892625
(GRCh37)
- Canonical SPDI:
- NC_000015.10:90349392:C:T
- Gene:
- GABARAPL3 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000011/3
(TOPMED)
- HGVS:
15.
rs1486026622 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 15:90348572
(GRCh38)
15:90891804
(GRCh37)
- Canonical SPDI:
- NC_000015.10:90348571:G:A
- Gene:
- GABARAPL3 (Varview)
- Functional Consequence:
- non_coding_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:
16.
rs1486025187 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 15:90348657
(GRCh38)
15:90891889
(GRCh37)
- Canonical SPDI:
- NC_000015.10:90348656:G:T
- Gene:
- GABARAPL3 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
- HGVS:
17.
rs1485995022 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 15:90346986
(GRCh38)
15:90890218
(GRCh37)
- Canonical SPDI:
- NC_000015.10:90346985:C:A,NC_000015.10:90346985:C:T
- Gene:
- GABARAPL3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.00053/9
(TOMMO)
T=0.00548/16
(KOREAN)
- HGVS:
18.
rs1485418433 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 15:90351401
(GRCh38)
15:90894633
(GRCh37)
- Canonical SPDI:
- NC_000015.10:90351400:A:C
- Gene:
- GABARAPL3 (Varview), ZNF774 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency
- MAF:
C=0.000007/1
(GnomAD)
- HGVS:
19.
rs1485338765 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 15:90348344
(GRCh38)
15:90891576
(GRCh37)
- Canonical SPDI:
- NC_000015.10:90348343:C:T
- Gene:
- GABARAPL3 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000142/2
(
ALFA)
T=0.000021/3
(GnomAD)
T=0.000023/6
(TOPMED)
- HGVS:
20.
rs1484491075 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 15:90346670
(GRCh38)
15:90889902
(GRCh37)
- Canonical SPDI:
- NC_000015.10:90346669:G:A,NC_000015.10:90346669:G:C
- Gene:
- GABARAPL3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.000029/4
(GnomAD)
- HGVS: