Links from Gene
Items: 1 to 20 of 2130
1.
rs1491428575 has merged into rs543785694 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AG>-
[Show Flanks]
- Chromosome:
- 7:130922043
(GRCh38)
7:130606802
(GRCh37)
- Canonical SPDI:
- NC_000007.14:130922042:AG:
- Gene:
- LINC-PINT (Varview), LINC00513 (Varview)
- Functional Consequence:
- intron_variant,downstream_transcript_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.000427/6
(
ALFA)
-=0.000071/2
(TOMMO)
-=0.000428/60
(GnomAD)
-=0.000529/140
(TOPMED)
-=0.000781/4
(1000Genomes)
- HGVS:
2.
rs1491098306 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 7:130922043
(GRCh38)
7:130606803
(GRCh37)
- Canonical SPDI:
- NC_000007.14:130922043:GGGG:GGGGG
- Gene:
- LINC-PINT (Varview), LINC00513 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GGGGG=0.000071/1
(
ALFA)
G=0.000078/11
(GnomAD)
G=0.000083/22
(TOPMED)
- HGVS:
3.
rs1490280112 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 7:130916213
(GRCh38)
7:130600972
(GRCh37)
- Canonical SPDI:
- NC_000007.14:130916212:A:G
- Gene:
- LINC-PINT (Varview), LINC00513 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
4.
rs1489786474 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 7:130916749
(GRCh38)
7:130601508
(GRCh37)
- Canonical SPDI:
- NC_000007.14:130916748:G:A
- Gene:
- LINC-PINT (Varview), LINC00513 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,genic_upstream_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:
5.
rs1489143609 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 7:130917963
(GRCh38)
7:130602722
(GRCh37)
- Canonical SPDI:
- NC_000007.14:130917962:G:A
- Gene:
- LINC-PINT (Varview), LINC00513 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
6.
rs1489090424 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 7:130922073
(GRCh38)
7:130606832
(GRCh37)
- Canonical SPDI:
- NC_000007.14:130922072:A:G
- Gene:
- LINC-PINT (Varview), LINC00513 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
7.
rs1488844892 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C,T
[Show Flanks]
- Chromosome:
- 7:130918434
(GRCh38)
7:130603193
(GRCh37)
- Canonical SPDI:
- NC_000007.14:130918433:G:A,NC_000007.14:130918433:G:C,NC_000007.14:130918433:G:T
- Gene:
- LINC-PINT (Varview), LINC00513 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000014/2
(GnomAD)
- HGVS:
8.
rs1488788818 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 7:130913625
(GRCh38)
7:130598384
(GRCh37)
- Canonical SPDI:
- NC_000007.14:130913624:T:A
- Gene:
- LINC-PINT (Varview), LINC00513 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
- HGVS:
9.
rs1488515273 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 7:130914539
(GRCh38)
7:130599298
(GRCh37)
- Canonical SPDI:
- NC_000007.14:130914538:C:A,NC_000007.14:130914538:C:T
- Gene:
- LINC-PINT (Varview), LINC00513 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
10.
rs1488393301 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 7:130917399
(GRCh38)
7:130602158
(GRCh37)
- Canonical SPDI:
- NC_000007.14:130917398:G:A
- Gene:
- LINC-PINT (Varview), LINC00513 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
11.
rs1487644680 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 7:130915739
(GRCh38)
7:130600498
(GRCh37)
- Canonical SPDI:
- NC_000007.14:130915738:G:A
- Gene:
- LINC-PINT (Varview), LINC00513 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
12.
rs1487404372 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 7:130912453
(GRCh38)
7:130597212
(GRCh37)
- Canonical SPDI:
- NC_000007.14:130912452:C:G
- Gene:
- LINC-PINT (Varview), LINC00513 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,genic_downstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
G=0.000342/1
(KOREAN)
G=0.000672/11
(TOMMO)
- HGVS:
13.
rs1487184453 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 7:130918870
(GRCh38)
7:130603629
(GRCh37)
- Canonical SPDI:
- NC_000007.14:130918869:C:T
- Gene:
- LINC-PINT (Varview), LINC00513 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
14.
rs1487008091 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTC>-
[Show Flanks]
- Chromosome:
- 7:130912628
(GRCh38)
7:130597387
(GRCh37)
- Canonical SPDI:
- NC_000007.14:130912619:TTTCTTTCTTTC:TTTCTTTC
- Gene:
- LINC-PINT (Varview), LINC00513 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTCTTTC=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
-=0.000014/2
(GnomAD)
- HGVS:
15.
rs1486898304 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 7:130919437
(GRCh38)
7:130604196
(GRCh37)
- Canonical SPDI:
- NC_000007.14:130919436:C:G
- Gene:
- LINC-PINT (Varview), LINC00513 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
16.
rs1486418851 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 7:130912953
(GRCh38)
7:130597712
(GRCh37)
- Canonical SPDI:
- NC_000007.14:130912952:A:C
- Gene:
- LINC-PINT (Varview), LINC00513 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000014/2
(GnomAD)
C=0.000019/5
(TOPMED)
- HGVS:
17.
rs1485945916 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 7:130919917
(GRCh38)
7:130604676
(GRCh37)
- Canonical SPDI:
- NC_000007.14:130919916:T:C
- Gene:
- LINC-PINT (Varview), LINC00513 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
C=0.000035/1
(TOMMO)
- HGVS:
18.
rs1485692348 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 7:130920684
(GRCh38)
7:130605443
(GRCh37)
- Canonical SPDI:
- NC_000007.14:130920683:G:A
- Gene:
- LINC-PINT (Varview), LINC00513 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
19.
rs1485394608 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 7:130912314
(GRCh38)
7:130597073
(GRCh37)
- Canonical SPDI:
- NC_000007.14:130912313:G:T
- Gene:
- LINC-PINT (Varview), LINC00513 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
20.
rs1485291146 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 7:130920817
(GRCh38)
7:130605576
(GRCh37)
- Canonical SPDI:
- NC_000007.14:130920816:T:C,NC_000007.14:130920816:T:G
- Gene:
- LINC-PINT (Varview), LINC00513 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
C=0.000014/2
(GnomAD)
- HGVS: