Links from Gene
Items: 1 to 20 of 807
1.
rs1489536765 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C,T
[Show Flanks]
- Chromosome:
- 4:112648597
(GRCh38)
4:113569753
(GRCh37)
- Canonical SPDI:
- NC_000004.12:112648596:G:A,NC_000004.12:112648596:G:C,NC_000004.12:112648596:G:T
- Gene:
- LARP7 (Varview), MIR302A (Varview), MIR302B (Varview), MIR302C (Varview), MIR302D (Varview), MIR367 (Varview), MIR302CHG (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
T=0.00016/1
(1000Genomes)
- HGVS:
NC_000004.12:g.112648597G>A, NC_000004.12:g.112648597G>C, NC_000004.12:g.112648597G>T, NC_000004.11:g.113569753G>A, NC_000004.11:g.113569753G>C, NC_000004.11:g.113569753G>T, NG_032779.1:g.16634G>A, NG_032779.1:g.16634G>C, NG_032779.1:g.16634G>T, NR_146092.1:n.63C>T, NR_146092.1:n.63C>G, NR_146092.1:n.63C>A
2.
rs1489457657 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 4:112648124
(GRCh38)
4:113569280
(GRCh37)
- Canonical SPDI:
- NC_000004.12:112648123:C:T
- Gene:
- LARP7 (Varview), MIR302A (Varview), MIR302B (Varview), MIR302C (Varview), MIR302D (Varview), MIR367 (Varview), MIR302CHG (Varview)
- Functional Consequence:
- upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant,intron_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
- HGVS:
3.
rs1489095507 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 4:112649740
(GRCh38)
4:113570896
(GRCh37)
- Canonical SPDI:
- NC_000004.12:112649739:G:A
- Gene:
- LARP7 (Varview), MIR302A (Varview), MIR302B (Varview), MIR302C (Varview), MIR302D (Varview), MIR367 (Varview), MIR302CHG (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
4.
rs1488879946 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 4:112648359
(GRCh38)
4:113569515
(GRCh37)
- Canonical SPDI:
- NC_000004.12:112648358:G:C
- Gene:
- LARP7 (Varview), MIR302A (Varview), MIR302B (Varview), MIR302C (Varview), MIR302D (Varview), MIR367 (Varview), MIR302CHG (Varview)
- Functional Consequence:
- upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant,intron_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
C=0.000212/4
(TOMMO)
- HGVS:
5.
rs1487495288 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TCC>-
[Show Flanks]
- Chromosome:
- 4:112648689
(GRCh38)
4:113569845
(GRCh37)
- Canonical SPDI:
- NC_000004.12:112648684:CTCCTCC:CTCC
- Gene:
- LARP7 (Varview), MIR302A (Varview), MIR302B (Varview), MIR302C (Varview), MIR302D (Varview), MIR367 (Varview), MIR302CHG (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CTCC=0./0
(
ALFA)
-=0.000014/2
(GnomAD)
-=0.000019/5
(TOPMED)
- HGVS:
6.
rs1486912535 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 4:112648945
(GRCh38)
4:113570101
(GRCh37)
- Canonical SPDI:
- NC_000004.12:112648944:A:G
- Gene:
- LARP7 (Varview), MIR302A (Varview), MIR302B (Varview), MIR302C (Varview), MIR302D (Varview), MIR367 (Varview), MIR302CHG (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
- HGVS:
7.
rs1485928698 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 4:112649481
(GRCh38)
4:113570637
(GRCh37)
- Canonical SPDI:
- NC_000004.12:112649480:C:G
- Gene:
- LARP7 (Varview), MIR302A (Varview), MIR302B (Varview), MIR302C (Varview), MIR302D (Varview), MIR367 (Varview), MIR302CHG (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
8.
rs1484230924 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,T
[Show Flanks]
- Chromosome:
- 4:112649677
(GRCh38)
4:113570833
(GRCh37)
- Canonical SPDI:
- NC_000004.12:112649676:A:C,NC_000004.12:112649676:A:T
- Gene:
- LARP7 (Varview), MIR302A (Varview), MIR302B (Varview), MIR302C (Varview), MIR302D (Varview), MIR367 (Varview), MIR302CHG (Varview)
- Functional Consequence:
- missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.000111/1
(
ALFA)
C=0.000004/1
(GnomAD_exomes)
- HGVS:
NC_000004.12:g.112649677A>C, NC_000004.12:g.112649677A>T, NC_000004.11:g.113570833A>C, NC_000004.11:g.113570833A>T, NG_032779.1:g.17714A>C, NG_032779.1:g.17714A>T, NM_001267039.4:c.1285A>C, NM_001267039.4:c.1285A>T, NM_001267039.3:c.1306A>C, NM_001267039.3:c.1306A>T, NM_001267039.2:c.1306A>C, NM_001267039.2:c.1306A>T, NM_001267039.1:c.1306A>C, NM_001267039.1:c.1306A>T, NM_016648.4:c.1285A>C, NM_016648.4:c.1285A>T, NM_016648.3:c.1285A>C, NM_016648.3:c.1285A>T, NM_015454.3:c.1285A>C, NM_015454.3:c.1285A>T, NM_015454.2:c.1285A>C, NM_015454.2:c.1285A>T, NM_001370978.1:c.1285A>C, NM_001370978.1:c.1285A>T, NM_001370975.1:c.1324A>C, NM_001370975.1:c.1324A>T, NM_001370977.1:c.1321A>C, NM_001370977.1:c.1321A>T, NM_001370974.1:c.1324A>C, NM_001370974.1:c.1324A>T, NM_001370976.1:c.1321A>C, NM_001370976.1:c.1321A>T, NM_001370980.1:c.1282A>C, NM_001370980.1:c.1282A>T, NM_001370979.1:c.1282A>C, NM_001370979.1:c.1282A>T, NM_001370981.1:c.1048A>C, NM_001370981.1:c.1048A>T, NM_001370982.1:c.1048A>C, NM_001370982.1:c.1048A>T, XM_024454083.2:c.1324A>C, XM_024454083.2:c.1324A>T, XM_024454083.1:c.1324A>C, XM_024454083.1:c.1324A>T, XM_047415769.1:c.1324A>C, XM_047415769.1:c.1324A>T, XM_047415771.1:c.1285A>C, XM_047415771.1:c.1285A>T, XM_047415768.1:c.1324A>C, XM_047415768.1:c.1324A>T, NR_049768.1:n.1460A>C, NR_049768.1:n.1460A>T, XM_047415770.1:c.1285A>C, XM_047415770.1:c.1285A>T, NP_001253968.2:p.Asn429His, NP_001253968.2:p.Asn429Tyr, NP_057732.2:p.Asn429His, NP_057732.2:p.Asn429Tyr, NP_056269.1:p.Asn429His, NP_056269.1:p.Asn429Tyr, NP_001357907.1:p.Asn429His, NP_001357907.1:p.Asn429Tyr, NP_001357904.1:p.Asn442His, NP_001357904.1:p.Asn442Tyr, NP_001357906.1:p.Asn441His, NP_001357906.1:p.Asn441Tyr, NP_001357903.1:p.Asn442His, NP_001357903.1:p.Asn442Tyr, NP_001357905.1:p.Asn441His, NP_001357905.1:p.Asn441Tyr, NP_001357909.1:p.Asn428His, NP_001357909.1:p.Asn428Tyr, NP_001357908.1:p.Asn428His, NP_001357908.1:p.Asn428Tyr, NP_001357910.1:p.Asn350His, NP_001357910.1:p.Asn350Tyr, NP_001357911.1:p.Asn350His, NP_001357911.1:p.Asn350Tyr, XP_024309851.1:p.Asn442His, XP_024309851.1:p.Asn442Tyr, XP_047271725.1:p.Asn442His, XP_047271725.1:p.Asn442Tyr, XP_047271727.1:p.Asn429His, XP_047271727.1:p.Asn429Tyr, XP_047271724.1:p.Asn442His, XP_047271724.1:p.Asn442Tyr, XP_047271726.1:p.Asn429His, XP_047271726.1:p.Asn429Tyr
9.
rs1483444766 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 4:112648950
(GRCh38)
4:113570106
(GRCh37)
- Canonical SPDI:
- NC_000004.12:112648949:A:C
- Gene:
- LARP7 (Varview), MIR302A (Varview), MIR302B (Varview), MIR302C (Varview), MIR302D (Varview), MIR367 (Varview), MIR302CHG (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000014/2
(GnomAD)
C=0.000019/5
(TOPMED)
- HGVS:
10.
rs1482990552 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 4:112649933
(GRCh38)
4:113571089
(GRCh37)
- Canonical SPDI:
- NC_000004.12:112649932:A:C,NC_000004.12:112649932:A:G
- Gene:
- LARP7 (Varview), MIR302A (Varview), MIR302B (Varview), MIR302C (Varview), MIR302D (Varview), MIR367 (Varview), MIR302CHG (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
11.
rs1482318126 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 4:112648901
(GRCh38)
4:113570057
(GRCh37)
- Canonical SPDI:
- NC_000004.12:112648900:A:G
- Gene:
- LARP7 (Varview), MIR302A (Varview), MIR302B (Varview), MIR302C (Varview), MIR302D (Varview), MIR367 (Varview), MIR302CHG (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000015/2
(GnomAD)
G=0.00006/1
(TOMMO)
- HGVS:
13.
rs1480974043 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 4:112648015
(GRCh38)
4:113569171
(GRCh37)
- Canonical SPDI:
- NC_000004.12:112648014:C:A
- Gene:
- LARP7 (Varview), MIR302A (Varview), MIR302B (Varview), MIR302C (Varview), MIR302D (Varview), MIR367 (Varview), MIR302CHG (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,downstream_transcript_variant,500B_downstream_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency
- MAF:
A=0.000004/1
(GnomAD_exomes)
- HGVS:
14.
rs1480954687 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 4:112648249
(GRCh38)
4:113569405
(GRCh37)
- Canonical SPDI:
- NC_000004.12:112648248:T:C
- Gene:
- LARP7 (Varview), MIR302A (Varview), MIR302B (Varview), MIR302C (Varview), MIR302D (Varview), MIR367 (Varview), MIR302CHG (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,downstream_transcript_variant,500B_downstream_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency
- MAF:
C=0.000004/1
(GnomAD_exomes)
- HGVS:
15.
rs1480902292 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 4:112650413
(GRCh38)
4:113571569
(GRCh37)
- Canonical SPDI:
- NC_000004.12:112650412:T:G
- Gene:
- LARP7 (Varview), MIR302B (Varview), MIR302C (Varview), MIR302CHG (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency
- MAF:
G=0.000004/1
(GnomAD_exomes)
- HGVS:
16.
rs1480678138 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 4:112647876
(GRCh38)
4:113569032
(GRCh37)
- Canonical SPDI:
- NC_000004.12:112647875:A:G
- Gene:
- LARP7 (Varview), MIR302A (Varview), MIR302C (Varview), MIR302D (Varview), MIR367 (Varview), MIR302CHG (Varview)
- Functional Consequence:
- intron_variant,downstream_transcript_variant,500B_downstream_variant,non_coding_transcript_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:
17.
rs1477216084 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G,T
[Show Flanks]
- Chromosome:
- 4:112648679
(GRCh38)
4:113569835
(GRCh37)
- Canonical SPDI:
- NC_000004.12:112648678:C:A,NC_000004.12:112648678:C:G,NC_000004.12:112648678:C:T
- Gene:
- LARP7 (Varview), MIR302A (Varview), MIR302B (Varview), MIR302C (Varview), MIR302D (Varview), MIR367 (Varview), MIR302CHG (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
A=0.00021/4
(TOMMO)
- HGVS:
NC_000004.12:g.112648679C>A, NC_000004.12:g.112648679C>G, NC_000004.12:g.112648679C>T, NC_000004.11:g.113569835C>A, NC_000004.11:g.113569835C>G, NC_000004.11:g.113569835C>T, NG_032779.1:g.16716C>A, NG_032779.1:g.16716C>G, NG_032779.1:g.16716C>T, NR_146093.1:n.25G>T, NR_146093.1:n.25G>C, NR_146093.1:n.25G>A, NR_146094.1:n.25G>T, NR_146094.1:n.25G>C, NR_146094.1:n.25G>A
18.
rs1474914318 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 4:112648057
(GRCh38)
4:113569213
(GRCh37)
- Canonical SPDI:
- NC_000004.12:112648056:A:G
- Gene:
- LARP7 (Varview), MIR302A (Varview), MIR302B (Varview), MIR302C (Varview), MIR302D (Varview), MIR367 (Varview), MIR302CHG (Varview)
- Functional Consequence:
- 2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
20.
rs1472454323 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 4:112649780
(GRCh38)
4:113570936
(GRCh37)
- Canonical SPDI:
- NC_000004.12:112649779:A:C
- Gene:
- LARP7 (Varview), MIR302A (Varview), MIR302B (Varview), MIR302C (Varview), MIR302D (Varview), MIR367 (Varview), MIR302CHG (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_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: