Links from Gene
Items: 1 to 20 of 706
1.
rs1491517475 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->AG,TG
[Show Flanks]
- Chromosome:
- 11:122100661
(GRCh38)
11:121971370
(GRCh37)
- Canonical SPDI:
- NC_000011.10:122100661:G:GAG,NC_000011.10:122100661:G:GTG
- Gene:
- MIR100HG (Varview), MIR125B1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
GTG=0./0
(
ALFA)
GT=0.000004/1
(TOPMED)
- HGVS:
2.
rs1491507032 has merged into rs376231044 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GGGGGG>-,G,GG,GGG,GGGG,GGGGG,GGGGGGG,GGGGGGGG,GGGGGGGGG,GGGGGGGGGG,GGGGGGGGGGG,GGGGGGGGGGGGGGG
[Show Flanks]
- Chromosome:
- 11:122100669
(GRCh38)
11:121971377
(GRCh37)
- Canonical SPDI:
- NC_000011.10:122100660:GGGGGGGGGGGGGG:GGGGGGGG,NC_000011.10:122100660:GGGGGGGGGGGGGG:GGGGGGGGG,NC_000011.10:122100660:GGGGGGGGGGGGGG:GGGGGGGGGG,NC_000011.10:122100660:GGGGGGGGGGGGGG:GGGGGGGGGGG,NC_000011.10:122100660:GGGGGGGGGGGGGG:GGGGGGGGGGGG,NC_000011.10:122100660:GGGGGGGGGGGGGG:GGGGGGGGGGGGG,NC_000011.10:122100660:GGGGGGGGGGGGGG:GGGGGGGGGGGGGGG,NC_000011.10:122100660:GGGGGGGGGGGGGG:GGGGGGGGGGGGGGGG,NC_000011.10:122100660:GGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGG,NC_000011.10:122100660:GGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGG,NC_000011.10:122100660:GGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGG,NC_000011.10:122100660:GGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGG
- Gene:
- MIR100HG (Varview), MIR125B1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000011.10:g.122100669_122100674del, NC_000011.10:g.122100670_122100674del, NC_000011.10:g.122100671_122100674del, NC_000011.10:g.122100672_122100674del, NC_000011.10:g.122100673_122100674del, NC_000011.10:g.122100674del, NC_000011.10:g.122100674dup, NC_000011.10:g.122100673_122100674dup, NC_000011.10:g.122100672_122100674dup, NC_000011.10:g.122100671_122100674dup, NC_000011.10:g.122100670_122100674dup, NC_000011.10:g.122100666_122100674dup, NC_000011.9:g.121971377_121971382del, NC_000011.9:g.121971378_121971382del, NC_000011.9:g.121971379_121971382del, NC_000011.9:g.121971380_121971382del, NC_000011.9:g.121971381_121971382del, NC_000011.9:g.121971382del, NC_000011.9:g.121971382dup, NC_000011.9:g.121971381_121971382dup, NC_000011.9:g.121971380_121971382dup, NC_000011.9:g.121971379_121971382dup, NC_000011.9:g.121971378_121971382dup, NC_000011.9:g.121971374_121971382dup, NR_137176.1:n.181_186del, NR_137176.1:n.182_186del, NR_137176.1:n.183_186del, NR_137176.1:n.184_186del, NR_137176.1:n.185_186del, NR_137176.1:n.186del, NR_137176.1:n.186dup, NR_137176.1:n.185_186dup, NR_137176.1:n.184_186dup, NR_137176.1:n.183_186dup, NR_137176.1:n.182_186dup, NR_137176.1:n.178_186dup, NR_137177.1:n.181_186del, NR_137177.1:n.182_186del, NR_137177.1:n.183_186del, NR_137177.1:n.184_186del, NR_137177.1:n.185_186del, NR_137177.1:n.186del, NR_137177.1:n.186dup, NR_137177.1:n.185_186dup, NR_137177.1:n.184_186dup, NR_137177.1:n.183_186dup, NR_137177.1:n.182_186dup, NR_137177.1:n.178_186dup, NR_137178.1:n.181_186del, NR_137178.1:n.182_186del, NR_137178.1:n.183_186del, NR_137178.1:n.184_186del, NR_137178.1:n.185_186del, NR_137178.1:n.186del, NR_137178.1:n.186dup, NR_137178.1:n.185_186dup, NR_137178.1:n.184_186dup, NR_137178.1:n.183_186dup, NR_137178.1:n.182_186dup, NR_137178.1:n.178_186dup
3.
rs1491207125 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 11:122100659
(GRCh38)
11:121971368
(GRCh37)
- Canonical SPDI:
- NC_000011.10:122100659:C:CC
- Gene:
- MIR100HG (Varview), MIR125B1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CC=0./0
(
ALFA)
C=0.00022/3
(TOMMO)
C=0.00026/7
(GnomAD)
- HGVS:
4.
rs1488504873 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:122101097
(GRCh38)
11:121971805
(GRCh37)
- Canonical SPDI:
- NC_000011.10:122101096:G:A
- Gene:
- MIR100HG (Varview), MIR125B1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,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.
rs1487143222 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 11:122100392
(GRCh38)
11:121971100
(GRCh37)
- Canonical SPDI:
- NC_000011.10:122100391:G:T
- Gene:
- MIR100HG (Varview), MIR125B1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
7.
rs1486675781 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 11:122100698
(GRCh38)
11:121971407
(GRCh37)
- Canonical SPDI:
- NC_000011.10:122100698:TTTTT:TTTTTT
- Gene:
- MIR100HG (Varview), MIR125B1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
TTTTTT=0./0
(
ALFA)
T=0.000047/6
(GnomAD)
- HGVS:
8.
rs1485857738 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- 11:122101743
(GRCh38)
11:121972451
(GRCh37)
- Canonical SPDI:
- NC_000011.10:122101734:GAGAGAGAGA:GAGAGAGA
- Gene:
- MIR100HG (Varview), MIR125B1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
GAGAGAGA=0.000071/1
(
ALFA)
-=0.000007/1
(GnomAD)
- HGVS:
9.
rs1485788004 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 11:122101684
(GRCh38)
11:121972392
(GRCh37)
- Canonical SPDI:
- NC_000011.10:122101683:A:G,NC_000011.10:122101683:A:T
- Gene:
- MIR100HG (Varview), MIR125B1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000057/15
(TOPMED)
T=0.000057/8
(GnomAD)
- HGVS:
NC_000011.10:g.122101684A>G, NC_000011.10:g.122101684A>T, NC_000011.9:g.121972392A>G, NC_000011.9:g.121972392A>T, NR_137190.1:n.546T>C, NR_137190.1:n.546T>A, NR_137191.1:n.546T>C, NR_137191.1:n.546T>A, NR_137189.1:n.546T>C, NR_137189.1:n.546T>A, NR_137175.1:n.546T>C, NR_137175.1:n.546T>A
11.
rs1485008366 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 11:122100765
(GRCh38)
11:121971473
(GRCh37)
- Canonical SPDI:
- NC_000011.10:122100764:T:A
- Gene:
- MIR100HG (Varview), MIR125B1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
12.
rs1484676417 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 11:122099305
(GRCh38)
11:121970013
(GRCh37)
- Canonical SPDI:
- NC_000011.10:122099304:T:A,NC_000011.10:122099304:T:C
- Gene:
- MIR100HG (Varview), MIR125B1 (Varview)
- Functional Consequence:
- downstream_transcript_variant,intron_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
13.
rs1483860538 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 11:122101479
(GRCh38)
11:121972187
(GRCh37)
- Canonical SPDI:
- NC_000011.10:122101478:T:C
- Gene:
- MIR100HG (Varview), MIR125B1 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
14.
rs1482768665 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 11:122100982
(GRCh38)
11:121971690
(GRCh37)
- Canonical SPDI:
- NC_000011.10:122100981:T:C
- Gene:
- MIR100HG (Varview), MIR125B1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
15.
rs1481277602 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:122100460
(GRCh38)
11:121971168
(GRCh37)
- Canonical SPDI:
- NC_000011.10:122100459:C:T
- Gene:
- MIR100HG (Varview), MIR125B1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/1
(GnomAD)
- HGVS:
16.
rs1481262273 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:122100658
(GRCh38)
11:121971366
(GRCh37)
- Canonical SPDI:
- NC_000011.10:122100657:G:A
- Gene:
- MIR100HG (Varview), MIR125B1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.00004/1
(TOMMO)
- HGVS:
18.
rs1478974190 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 11:122101514
(GRCh38)
11:121972222
(GRCh37)
- Canonical SPDI:
- NC_000011.10:122101513:C:G,NC_000011.10:122101513:C:T
- Gene:
- MIR100HG (Varview), MIR125B1 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000011.10:g.122101514C>G, NC_000011.10:g.122101514C>T, NC_000011.9:g.121972222C>G, NC_000011.9:g.121972222C>T, NR_137190.1:n.716G>C, NR_137190.1:n.716G>A, NR_137191.1:n.716G>C, NR_137191.1:n.716G>A, NR_137189.1:n.716G>C, NR_137189.1:n.716G>A, NR_137175.1:n.716G>C, NR_137175.1:n.716G>A
19.
rs1478580488 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 11:122100766
(GRCh38)
11:121971474
(GRCh37)
- Canonical SPDI:
- NC_000011.10:122100765:C:G,NC_000011.10:122100765:C:T
- Gene:
- MIR100HG (Varview), MIR125B1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
20.
rs1477994520 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:122101195
(GRCh38)
11:121971903
(GRCh37)
- Canonical SPDI:
- NC_000011.10:122101194:A:G
- Gene:
- MIR100HG (Varview), MIR125B1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000019/5
(TOPMED)
- HGVS: