Links from Gene
Items: 1 to 20 of 1412
1.
rs1491275595 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->AAGAAAA
[Show Flanks]
- Chromosome:
- 7:132259481
(GRCh38)
7:131944241
(GRCh37)
- Canonical SPDI:
- NC_000007.14:132259481:GAAAAAAGAAAA:GAAAAAAGAAAAAAGAAAA
- Gene:
- PLXNA4 (Varview), LOC101928807 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,genic_downstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
GAAAAAAGAAAAAAGAAAA=0./0
(
ALFA)
GAAAAAA=0.000004/1
(TOPMED)
- HGVS:
2.
rs1490593641 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 7:132259572
(GRCh38)
7:131944331
(GRCh37)
- Canonical SPDI:
- NC_000007.14:132259571:G:C
- Gene:
- PLXNA4 (Varview), LOC101928807 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,genic_downstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
3.
rs1490557555 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G
[Show Flanks]
- Chromosome:
- 7:132260610
(GRCh38)
7:131945369
(GRCh37)
- Canonical SPDI:
- NC_000007.14:132260609:C:A,NC_000007.14:132260609:C:G
- Gene:
- PLXNA4 (Varview), LOC101928807 (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)
A=0./0
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
6.
rs1489103813 has merged into rs1306968226 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- T>-,TT
[Show Flanks]
- Chromosome:
- 7:132258898
(GRCh38)
7:131943657
(GRCh37)
- Canonical SPDI:
- NC_000007.14:132258897:TTT:TT,NC_000007.14:132258897:TTT:TTTT
- Gene:
- PLXNA4 (Varview), LOC101928807 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTT=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
- HGVS:
7.
rs1488828939 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 7:132260784
(GRCh38)
7:131945543
(GRCh37)
- Canonical SPDI:
- NC_000007.14:132260783:G:C
- Gene:
- PLXNA4 (Varview), LOC101928807 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,genic_downstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000034/9
(TOPMED)
C=0.000035/1
(TOMMO)
C=0.000684/2
(KOREAN)
- HGVS:
9.
rs1488183062 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 7:132262825
(GRCh38)
7:131947584
(GRCh37)
- Canonical SPDI:
- NC_000007.14:132262824:G:A
- Gene:
- PLXNA4 (Varview), LOC101928807 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000084/1
(
ALFA)
A=0.000043/6
(GnomAD)
A=0.000057/15
(TOPMED)
- HGVS:
10.
rs1488140787 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 7:132264134
(GRCh38)
7:131948893
(GRCh37)
- Canonical SPDI:
- NC_000007.14:132264133:T:A
- Gene:
- PLXNA4 (Varview), LOC101928807 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.00003/8
(TOPMED)
- HGVS:
11.
rs1486876561 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 7:132259124
(GRCh38)
7:131943883
(GRCh37)
- Canonical SPDI:
- NC_000007.14:132259123:G:C
- Gene:
- PLXNA4 (Varview), LOC101928807 (Varview)
- Functional Consequence:
- 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=0.000007/1
(GnomAD)
C=0.000142/2
(TOMMO)
C=0.000684/2
(KOREAN)
- HGVS:
12.
rs1485986652 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 7:132263633
(GRCh38)
7:131948392
(GRCh37)
- Canonical SPDI:
- NC_000007.14:132263632:G:A,NC_000007.14:132263632:G:C
- Gene:
- PLXNA4 (Varview), LOC101928807 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
13.
rs1485959040 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 7:132263513
(GRCh38)
7:131948272
(GRCh37)
- Canonical SPDI:
- NC_000007.14:132263512:T:C
- Gene:
- PLXNA4 (Varview), LOC101928807 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
14.
rs1485759234 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 7:132262772
(GRCh38)
7:131947531
(GRCh37)
- Canonical SPDI:
- NC_000007.14:132262771:G:A,NC_000007.14:132262771:G:T
- Gene:
- PLXNA4 (Varview), LOC101928807 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
15.
rs1484780691 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 7:132262317
(GRCh38)
7:131947076
(GRCh37)
- Canonical SPDI:
- NC_000007.14:132262316:A:G
- Gene:
- PLXNA4 (Varview), LOC101928807 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000014/2
(GnomAD)
G=0.000015/4
(TOPMED)
- HGVS:
16.
rs1484200127 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 7:132260510
(GRCh38)
7:131945269
(GRCh37)
- Canonical SPDI:
- NC_000007.14:132260509:A:G
- Gene:
- PLXNA4 (Varview), LOC101928807 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
17.
rs1484041825 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 7:132260264
(GRCh38)
7:131945023
(GRCh37)
- Canonical SPDI:
- NC_000007.14:132260263:C:A
- Gene:
- PLXNA4 (Varview), LOC101928807 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.00005/7
(GnomAD)
A=0.000098/26
(TOPMED)
A=0.000177/3
(TOMMO)
A=0.000312/2
(1000Genomes)
A=0.001711/5
(KOREAN)
- HGVS:
18.
rs1483999068 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 7:132261479
(GRCh38)
7:131946238
(GRCh37)
- Canonical SPDI:
- NC_000007.14:132261478:A:G
- Gene:
- PLXNA4 (Varview), LOC101928807 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000019/5
(TOPMED)
- HGVS:
20.
rs1483532910 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 7:132264658
(GRCh38)
7:131949417
(GRCh37)
- Canonical SPDI:
- NC_000007.14:132264657:C:T
- Gene:
- PLXNA4 (Varview), LOC101928807 (Varview)
- Functional Consequence:
- intron_variant,downstream_transcript_variant,500B_downstream_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS: