Links from Gene
Items: 1 to 20 of 6764
3.
rs1491379406 has merged into rs58678449 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CT>-,CTCT,CTCTCT
[Show Flanks]
- Chromosome:
- 3:195857563
(GRCh38)
3:195584434
(GRCh37)
- Canonical SPDI:
- NC_000003.12:195857553:TCTCTCTCTCT:TCTCTCTCT,NC_000003.12:195857553:TCTCTCTCTCT:TCTCTCTCTCTCT,NC_000003.12:195857553:TCTCTCTCTCT:TCTCTCTCTCTCTCT
- Gene:
- LINC01983 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TCTCTCTCTCTCTCT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.237079/422
(Korea1K)
-=0.27256/4565
(TOMMO)
-=0.27619/58
(Vietnamese)
TC=0.352941/12
(GENOME_DK)
-=0.451437/2261
(1000Genomes)
-=0.453177/271
(NorthernSweden)
-=0.478329/2141
(Estonian)
- HGVS:
4.
rs1491378207 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->CTCTCTTTCTTTCTTTCTCC
[Show Flanks]
- Chromosome:
- 3:195845752
(GRCh38)
3:195572624
(GRCh37)
- Canonical SPDI:
- NC_000003.12:195845752::CTCTCTTTCTTTCTTTCTCC
- Gene:
- LINC01983 (Varview), LOC107984010 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
CTCTCTTTCTTTCTTTCTCC=0.00682/114
(TOMMO)
CTCTCTTTCTTTCTTTCTCC=0.01094/20
(Korea1K)
- HGVS:
5.
rs1491332769 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 3:195845753
(GRCh38)
3:195572624
(GRCh37)
- Canonical SPDI:
- NC_000003.12:195845751:TAT:T
- Gene:
- LINC01983 (Varview), LOC107984010 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
-=0.000101/14
(GnomAD)
- HGVS:
6.
rs1491329043 has merged into rs908916132 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TA>-,TATA,TATATA
[Show Flanks]
- Chromosome:
- 3:195838220
(GRCh38)
3:195565091
(GRCh37)
- Canonical SPDI:
- NC_000003.12:195838217:TATA:TA,NC_000003.12:195838217:TATA:TATATA,NC_000003.12:195838217:TATA:TATATATA
- Gene:
- LINC01983 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TATATA=0./0
(
ALFA)
-=0.000023/6
(TOPMED)
- HGVS:
7.
rs1491326144 has merged into rs55858449 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 3:195842129
(GRCh38)
3:195569000
(GRCh37)
- Canonical SPDI:
- NC_000003.12:195842116:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:195842116:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:195842116:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:195842116:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:195842116:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:195842116:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:195842116:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:195842116:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:195842116:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:195842116:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- LINC01983 (Varview), LOC107984010 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAAA=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.182573/88
(NorthernSweden)
-=0.335663/1681
(1000Genomes)
- HGVS:
NC_000003.12:g.195842129_195842135del, NC_000003.12:g.195842132_195842135del, NC_000003.12:g.195842133_195842135del, NC_000003.12:g.195842134_195842135del, NC_000003.12:g.195842135del, NC_000003.12:g.195842135dup, NC_000003.12:g.195842134_195842135dup, NC_000003.12:g.195842133_195842135dup, NC_000003.12:g.195842132_195842135dup, NC_000003.12:g.195842130_195842135dup, NC_000003.11:g.195569000_195569006del, NC_000003.11:g.195569003_195569006del, NC_000003.11:g.195569004_195569006del, NC_000003.11:g.195569005_195569006del, NC_000003.11:g.195569006del, NC_000003.11:g.195569006dup, NC_000003.11:g.195569005_195569006dup, NC_000003.11:g.195569004_195569006dup, NC_000003.11:g.195569003_195569006dup, NC_000003.11:g.195569001_195569006dup
8.
rs1490966937 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 3:195845501
(GRCh38)
3:195572372
(GRCh37)
- Canonical SPDI:
- NC_000003.12:195845500:A:G
- Gene:
- LINC01983 (Varview), LOC107984010 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000283/5
(TOMMO)
- HGVS:
10.
rs1490665245 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 3:195842347
(GRCh38)
3:195569218
(GRCh37)
- Canonical SPDI:
- NC_000003.12:195842346:T:C
- Gene:
- LINC01983 (Varview), LOC107984010 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.00379/45
(
ALFA)
C=0.00011/7
(GnomAD)
C=0.00288/21
(TOMMO)
C=0.00672/5
(Korea1K)
T=0.01786/1
(SGDP_PRJ)
C=0.22484/362
(KOREAN)
- HGVS:
11.
rs1490488000 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 3:195849571
(GRCh38)
3:195576442
(GRCh37)
- Canonical SPDI:
- NC_000003.12:195849570:G:A
- Gene:
- LINC01983 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
12.
rs1490282031 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 3:195859533
(GRCh38)
3:195586404
(GRCh37)
- Canonical SPDI:
- NC_000003.12:195859532:C:G,NC_000003.12:195859532:C:T
- Gene:
- LINC01983 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000342/1
(KOREAN)
- HGVS:
13.
rs1490194913 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 3:195862046
(GRCh38)
3:195588917
(GRCh37)
- Canonical SPDI:
- NC_000003.12:195862045:C:G
- Gene:
- LINC01983 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
- HGVS:
14.
rs1490168856 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 3:195846728
(GRCh38)
3:195573599
(GRCh37)
- Canonical SPDI:
- NC_000003.12:195846727:A:G
- Gene:
- LINC01983 (Varview), LOC107984010 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
16.
rs1490006443 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CTTTCCTT
[Show Flanks]
- Chromosome:
- 3:195845680
(GRCh38)
3:195572552
(GRCh37)
- Canonical SPDI:
- NC_000003.12:195845680:TTCTTTCCTT:TTCTTTCCTTCTTTCCTT
- Gene:
- LINC01983 (Varview), LOC107984010 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTCTTTCCTTCTTTCCTT=0.000084/1
(
ALFA)
TTCTTTCC=0.000186/26
(GnomAD)
TTCTTTCC=0.000625/4
(1000Genomes)
- HGVS:
17.
rs1489983859 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C,G
[Show Flanks]
- Chromosome:
- 3:195843893
(GRCh38)
3:195570764
(GRCh37)
- Canonical SPDI:
- NC_000003.12:195843892:T:A,NC_000003.12:195843892:T:C,NC_000003.12:195843892:T:G
- Gene:
- LINC01983 (Varview), LOC107984010 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000019/5
(TOPMED)
G=0.009847/18
(Korea1K)
- HGVS:
18.
rs1489895970 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 3:195855096
(GRCh38)
3:195581967
(GRCh37)
- Canonical SPDI:
- NC_000003.12:195855095:A:C
- Gene:
- LINC01983 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
19.
rs1489877486 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 3:195842726
(GRCh38)
3:195569597
(GRCh37)
- Canonical SPDI:
- NC_000003.12:195842725:C:A,NC_000003.12:195842725:C:T
- Gene:
- LINC01983 (Varview), LOC107984010 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.00795/10
(KOREAN)
A=0.25/1
(SGDP_PRJ)
- HGVS:
20.
rs1489720757 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 3:195848372
(GRCh38)
3:195575243
(GRCh37)
- Canonical SPDI:
- NC_000003.12:195848371:G:A
- Gene:
- LINC01983 (Varview), LOC107984010 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS: