Links from Gene
Items: 1 to 20 of 779
1.
rs1489317232 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 22:46112710
(GRCh38)
22:46508590
(GRCh37)
- Canonical SPDI:
- NC_000022.11:46112709:C:T
- Gene:
- MIRLET7BHG (Varview), MIRLET7A3 (Varview), MIRLET7B (Varview), MIR4763 (Varview), LOC124905135 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000011/3
(TOPMED)
- HGVS:
2.
rs1486931666 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 22:46112590
(GRCh38)
22:46508470
(GRCh37)
- Canonical SPDI:
- NC_000022.11:46112589:G:A,NC_000022.11:46112589:G:T
- Gene:
- MIRLET7BHG (Varview), MIRLET7A3 (Varview), MIRLET7B (Varview), MIR4763 (Varview), LOC124905135 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000021/3
(GnomAD)
A=0.000035/1
(TOMMO)
- HGVS:
NC_000022.11:g.46112590G>A, NC_000022.11:g.46112590G>T, NC_000022.10:g.46508470G>A, NC_000022.10:g.46508470G>T, NR_027033.2:n.3379G>A, NR_027033.2:n.3379G>T, NR_027033.1:n.3379G>A, NR_027033.1:n.3379G>T, XM_047441695.1:c.*8001G>A, XM_047441695.1:c.*8001G>T, XM_047441697.1:c.*8001G>A, XM_047441697.1:c.*8001G>T, XM_047441696.1:c.*8001G>A, XM_047441696.1:c.*8001G>T, XM_047441694.1:c.*8001G>A, XM_047441694.1:c.*8001G>T, NR_110479.1:n.3228G>A, NR_110479.1:n.3228G>T
3.
rs1484781456 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 22:46112055
(GRCh38)
22:46507936
(GRCh37)
- Canonical SPDI:
- NC_000022.11:46112055::C
- Gene:
- MIRLET7BHG (Varview), MIRLET7A3 (Varview), MIRLET7B (Varview), MIR4763 (Varview), LOC124905135 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000061/1
(
ALFA)
C=0.000207/29
(GnomAD)
C=0.000223/1
(Estonian)
- HGVS:
4.
rs1480838632 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 22:46111705
(GRCh38)
22:46507585
(GRCh37)
- Canonical SPDI:
- NC_000022.11:46111704:G:A,NC_000022.11:46111704:G:T
- Gene:
- MIRLET7BHG (Varview), MIRLET7A3 (Varview), MIRLET7B (Varview), MIR4763 (Varview), LOC124905135 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000015/2
(GnomAD)
T=0.001092/2
(Korea1K)
- HGVS:
NC_000022.11:g.46111705G>A, NC_000022.11:g.46111705G>T, NC_000022.10:g.46507585G>A, NC_000022.10:g.46507585G>T, NR_027033.2:n.2494G>A, NR_027033.2:n.2494G>T, NR_027033.1:n.2494G>A, NR_027033.1:n.2494G>T, XM_047441695.1:c.*7116G>A, XM_047441695.1:c.*7116G>T, XM_047441697.1:c.*7116G>A, XM_047441697.1:c.*7116G>T, XM_047441696.1:c.*7116G>A, XM_047441696.1:c.*7116G>T, XM_047441694.1:c.*7116G>A, XM_047441694.1:c.*7116G>T, NR_110479.1:n.2343G>A, NR_110479.1:n.2343G>T
5.
rs1480815050 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 22:46112173
(GRCh38)
22:46508053
(GRCh37)
- Canonical SPDI:
- NC_000022.11:46112172:G:T
- Gene:
- MIRLET7BHG (Varview), MIRLET7A3 (Varview), MIRLET7B (Varview), MIR4763 (Varview), LOC124905135 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,3_prime_UTR_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=0.000035/1
(TOMMO)
T=0.000342/1
(KOREAN)
T=0.000546/1
(Korea1K)
- HGVS:
6.
rs1478732627 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 22:46111274
(GRCh38)
22:46507154
(GRCh37)
- Canonical SPDI:
- NC_000022.11:46111273:G:A
- Gene:
- MIRLET7BHG (Varview), MIRLET7A3 (Varview), LOC124905135 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000021/3
(GnomAD)
- HGVS:
7.
rs1477914588 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 22:46112510
(GRCh38)
22:46508390
(GRCh37)
- Canonical SPDI:
- NC_000022.11:46112509:G:T
- Gene:
- MIRLET7BHG (Varview), MIRLET7A3 (Varview), MIRLET7B (Varview), MIR4763 (Varview), LOC124905135 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
8.
rs1475467590 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- 22:46112462
(GRCh38)
22:46508342
(GRCh37)
- Canonical SPDI:
- NC_000022.11:46112461:C:
- Gene:
- MIRLET7BHG (Varview), MIRLET7A3 (Varview), MIRLET7B (Varview), MIR4763 (Varview), LOC124905135 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.000071/1
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
9.
rs1475246642 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->AA
[Show Flanks]
- Chromosome:
- 22:46111202
(GRCh38)
22:46507083
(GRCh37)
- Canonical SPDI:
- NC_000022.11:46111202::AA
- Gene:
- MIRLET7BHG (Varview), MIRLET7A3 (Varview), LOC124905135 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency
- MAF:
AA=0.000014/2
(GnomAD)
- HGVS:
10.
rs1472770422 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 22:46112893
(GRCh38)
22:46508773
(GRCh37)
- Canonical SPDI:
- NC_000022.11:46112892:GGGGG:GGGG
- Gene:
- MIRLET7BHG (Varview), MIRLET7A3 (Varview), MIRLET7B (Varview), MIR4763 (Varview), LOC124905135 (Varview)
- Functional Consequence:
- 500B_downstream_variant,3_prime_UTR_variant,downstream_transcript_variant,upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
GGGG=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
11.
rs1472248518 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 22:46112971
(GRCh38)
22:46508851
(GRCh37)
- Canonical SPDI:
- NC_000022.11:46112970:G:A
- Gene:
- MIRLET7BHG (Varview), MIRLET7A3 (Varview), MIRLET7B (Varview), MIR4763 (Varview), LOC124905135 (Varview)
- Functional Consequence:
- 500B_downstream_variant,3_prime_UTR_variant,downstream_transcript_variant,upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_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.
rs1472112503 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 22:46112282
(GRCh38)
22:46508162
(GRCh37)
- Canonical SPDI:
- NC_000022.11:46112281:GGGG:GGG
- Gene:
- MIRLET7BHG (Varview), MIRLET7A3 (Varview), MIRLET7B (Varview), MIR4763 (Varview), LOC124905135 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
GGG=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
13.
rs1471807945 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 22:46112321
(GRCh38)
22:46508201
(GRCh37)
- Canonical SPDI:
- NC_000022.11:46112320:C:T
- Gene:
- MIRLET7BHG (Varview), MIRLET7A3 (Varview), MIRLET7B (Varview), MIR4763 (Varview), LOC124905135 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0./0
(GnomAD)
T=0.000004/1
(TOPMED)
T=0.000156/1
(1000Genomes)
- HGVS:
14.
rs1471791953 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 22:46112576
(GRCh38)
22:46508456
(GRCh37)
- Canonical SPDI:
- NC_000022.11:46112575:T:C
- Gene:
- MIRLET7BHG (Varview), MIRLET7A3 (Varview), MIRLET7B (Varview), MIR4763 (Varview), LOC124905135 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000015/4
(TOPMED)
- HGVS:
16.
rs1467620597 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 22:46111402
(GRCh38)
22:46507282
(GRCh37)
- Canonical SPDI:
- NC_000022.11:46111401:G:A
- Gene:
- MIRLET7BHG (Varview), MIRLET7A3 (Varview), LOC124905135 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
17.
rs1466961441 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 22:46111054
(GRCh38)
22:46506934
(GRCh37)
- Canonical SPDI:
- NC_000022.11:46111053:G:A
- Gene:
- MIRLET7BHG (Varview), MIRLET7A3 (Varview), LOC124905135 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000142/2
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
18.
rs1465972731 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 22:46113000
(GRCh38)
22:46508880
(GRCh37)
- Canonical SPDI:
- NC_000022.11:46112999:GGG:GG
- Gene:
- MIRLET7BHG (Varview), MIRLET7A3 (Varview), MIRLET7B (Varview), MIR4763 (Varview), LOC124905135 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GG=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
19.
rs1464604146 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 22:46112652
(GRCh38)
22:46508532
(GRCh37)
- Canonical SPDI:
- NC_000022.11:46112651:A:G
- Gene:
- MIRLET7BHG (Varview), MIRLET7A3 (Varview), MIRLET7B (Varview), MIR4763 (Varview), LOC124905135 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
20.
rs1463374439 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 22:46112942
(GRCh38)
22:46508822
(GRCh37)
- Canonical SPDI:
- NC_000022.11:46112941:G:A,NC_000022.11:46112941:G:C
- Gene:
- MIRLET7BHG (Varview), MIRLET7A3 (Varview), MIRLET7B (Varview), MIR4763 (Varview), LOC124905135 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000198/3
(
ALFA)
A=0.000014/2
(GnomAD)
A=0.00067/3
(Estonian)
- HGVS:
NC_000022.11:g.46112942G>A, NC_000022.11:g.46112942G>C, NC_000022.10:g.46508822G>A, NC_000022.10:g.46508822G>C, NR_027033.2:n.3731G>A, NR_027033.2:n.3731G>C, NR_027033.1:n.3731G>A, NR_027033.1:n.3731G>C, XM_047441695.1:c.*8353G>A, XM_047441695.1:c.*8353G>C, XM_047441697.1:c.*8353G>A, XM_047441697.1:c.*8353G>C, XM_047441696.1:c.*8353G>A, XM_047441696.1:c.*8353G>C, XM_047441694.1:c.*8353G>A, XM_047441694.1:c.*8353G>C, NR_110479.1:n.3580G>A, NR_110479.1:n.3580G>C