Links from Gene
Items: 1 to 20 of 3253
2.
rs1491168567 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CGAG,CGAGCGAG,CGAGCGAGCGAG
[Show Flanks]
- Chromosome:
- 3:160020121
(GRCh38)
3:159737909
(GRCh37)
- Canonical SPDI:
- NC_000003.12:160020121:AGCGAG:AGCGAGCGAG,NC_000003.12:160020121:AGCGAG:AGCGAGCGAGCGAG,NC_000003.12:160020121:AGCGAG:AGCGAGCGAGCGAGCGAG
- Gene:
- LINC01100 (Varview), IL12A-AS1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AGCGAGCGAGCGAGCGAG=0./0
(
ALFA)
- HGVS:
4.
rs1491048650 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GA>-,GAGA
[Show Flanks]
- Chromosome:
- 3:160019959
(GRCh38)
3:159737746
(GRCh37)
- Canonical SPDI:
- NC_000003.12:160019957:AGA:A,NC_000003.12:160019957:AGA:AGAGA
- Gene:
- LINC01100 (Varview), IL12A-AS1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
AGAGA=0./0
(
ALFA)
-=0.0008/2
(GnomAD)
- HGVS:
5.
rs1490462725 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 3:160029947
(GRCh38)
3:159747734
(GRCh37)
- Canonical SPDI:
- NC_000003.12:160029946:A:G
- Gene:
- LINC01100 (Varview), IL12A-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
6.
rs1490164278 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 3:160030013
(GRCh38)
3:159747800
(GRCh37)
- Canonical SPDI:
- NC_000003.12:160030012:C:T
- Gene:
- LINC01100 (Varview), IL12A-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000021/3
(GnomAD)
- HGVS:
7.
rs1490134742 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 3:160028058
(GRCh38)
3:159745845
(GRCh37)
- Canonical SPDI:
- NC_000003.12:160028057:T:C
- Gene:
- LINC01100 (Varview), IL12A-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000054/1
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000093/13
(GnomAD)
C=0.000223/1
(Estonian)
- HGVS:
8.
rs1490055501 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 3:160024045
(GRCh38)
3:159741832
(GRCh37)
- Canonical SPDI:
- NC_000003.12:160024044:A:G
- Gene:
- LINC01100 (Varview), IL12A-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
9.
rs1490040564 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 3:160023117
(GRCh38)
3:159740904
(GRCh37)
- Canonical SPDI:
- NC_000003.12:160023116:G:A
- Gene:
- LINC01100 (Varview), IL12A-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
10.
rs1489674712 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G,T
[Show Flanks]
- Chromosome:
- 3:160020001
(GRCh38)
3:159737788
(GRCh37)
- Canonical SPDI:
- NC_000003.12:160020000:A:C,NC_000003.12:160020000:A:G,NC_000003.12:160020000:A:T
- Gene:
- LINC01100 (Varview), IL12A-AS1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.00185/3
(Korea1K)
G=0.00461/75
(GnomAD)
G=0.00765/22
(KOREAN)
G=0.00841/124
(TOMMO)
A=0.5/2
(SGDP_PRJ)
- HGVS:
11.
rs1489422040 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 3:160031535
(GRCh38)
3:159749322
(GRCh37)
- Canonical SPDI:
- NC_000003.12:160031534:G:C
- Gene:
- LINC01100 (Varview), IL12A-AS1 (Varview), LOC124906252 (Varview)
- Functional Consequence:
- intron_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
12.
rs1489378035 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C,T
[Show Flanks]
- Chromosome:
- 3:160019991
(GRCh38)
3:159737778
(GRCh37)
- Canonical SPDI:
- NC_000003.12:160019990:G:A,NC_000003.12:160019990:G:C,NC_000003.12:160019990:G:T
- Gene:
- LINC01100 (Varview), IL12A-AS1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.01465/42
(KOREAN)
- HGVS:
13.
rs1488962446 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 3:160026654
(GRCh38)
3:159744441
(GRCh37)
- Canonical SPDI:
- NC_000003.12:160026653:G:A,NC_000003.12:160026653:G:C
- Gene:
- LINC01100 (Varview), IL12A-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000015/2
(GnomAD_exomes)
- HGVS:
14.
rs1488940407 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 3:160020619
(GRCh38)
3:159738406
(GRCh37)
- Canonical SPDI:
- NC_000003.12:160020618:C:A,NC_000003.12:160020618:C:T
- Gene:
- LINC01100 (Varview), IL12A-AS1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
15.
rs1488749427 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 3:160027785
(GRCh38)
3:159745572
(GRCh37)
- Canonical SPDI:
- NC_000003.12:160027784:A:G
- Gene:
- LINC01100 (Varview), IL12A-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
16.
rs1488445472 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 3:160022187
(GRCh38)
3:159739974
(GRCh37)
- Canonical SPDI:
- NC_000003.12:160022186:C:T
- Gene:
- LINC01100 (Varview), IL12A-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
T=0.000019/5
(TOPMED)
T=0.000035/1
(TOMMO)
C=0.5/1
(SGDP_PRJ)
- HGVS:
18.
rs1488346262 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 3:160020536
(GRCh38)
3:159738323
(GRCh37)
- Canonical SPDI:
- NC_000003.12:160020535:C:T
- Gene:
- LINC01100 (Varview), IL12A-AS1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
19.
rs1488240010 has merged into rs1293150920 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,A,AAA
[Show Flanks]
- Chromosome:
- 3:160019953
(GRCh38)
3:159737740
(GRCh37)
- Canonical SPDI:
- NC_000003.12:160019951:AAA:A,NC_000003.12:160019951:AAA:AA,NC_000003.12:160019951:AAA:AAAA
- Gene:
- LINC01100 (Varview), IL12A-AS1 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
-=0.00015/1
(TOMMO)
- HGVS:
20.
rs1488172821 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 3:160019052
(GRCh38)
3:159736839
(GRCh37)
- Canonical SPDI:
- NC_000003.12:160019051:A:T
- Gene:
- LINC01100 (Varview), IL12A-AS1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS: