Links from Gene
Items: 1 to 20 of 699
1.
rs1490836356 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 1:1167686
(GRCh38)
1:1103066
(GRCh37)
- Canonical SPDI:
- NC_000001.11:1167685:G:C
- Gene:
- MIR200A (Varview), MIR200B (Varview), MIR429 (Varview), LOC124903818 (Varview)
- Functional Consequence:
- 500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
2.
rs1489976986 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:1165833
(GRCh38)
1:1101213
(GRCh37)
- Canonical SPDI:
- NC_000001.11:1165832:G:A
- Gene:
- MIR200B (Varview), LOC124903818 (Varview)
- Functional Consequence:
- non_coding_transcript_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=0.000021/3
(GnomAD)
- HGVS:
4.
rs1487648667 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:1167338
(GRCh38)
1:1102718
(GRCh37)
- Canonical SPDI:
- NC_000001.11:1167337:G:A
- Gene:
- MIR200A (Varview), MIR200B (Varview), MIR429 (Varview), LOC124903818 (Varview)
- Functional Consequence:
- 500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000019/5
(TOPMED)
A=0.000021/3
(GnomAD)
A=0.000035/1
(TOMMO)
- HGVS:
5.
rs1486989234 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 1:1165430
(GRCh38)
1:1100810
(GRCh37)
- Canonical SPDI:
- NC_000001.11:1165429:G:C
- Gene:
- MIR200B (Varview), LOC124903818 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
6.
rs1486944708 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 1:1165997
(GRCh38)
1:1101377
(GRCh37)
- Canonical SPDI:
- NC_000001.11:1165996:G:A,NC_000001.11:1165996:G:C
- Gene:
- MIR200A (Varview), MIR200B (Varview), LOC124903818 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000015/4
(TOPMED)
- HGVS:
7.
rs1485962970 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 1:1165580
(GRCh38)
1:1100960
(GRCh37)
- Canonical SPDI:
- NC_000001.11:1165579:C:A
- Gene:
- MIR200B (Varview), LOC124903818 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
8.
rs1485306736 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 1:1166358
(GRCh38)
1:1101739
(GRCh37)
- Canonical SPDI:
- NC_000001.11:1166358:CCCCCC:CCCCCCC
- Gene:
- MIR200A (Varview), MIR200B (Varview), LOC124903818 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CCCCCCC=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
9.
rs1485230982 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GGGGACACTGGCCCCGGGCCC
[Show Flanks]
- Chromosome:
- 1:1165572
(GRCh38)
1:1100953
(GRCh37)
- Canonical SPDI:
- NC_000001.11:1165572:GGGGACACTGGCCCCGGGCCC:GGGGACACTGGCCCCGGGCCCGGGGACACTGGCCCCGGGCCC
- Gene:
- MIR200B (Varview), LOC124903818 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
GGGGACACTGGCCCCGGGCCCGGGGACACTGGCCCCGGGCCC=0.00007/1
(
ALFA)
- HGVS:
10.
rs1481522124 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 1:1165659
(GRCh38)
1:1101039
(GRCh37)
- Canonical SPDI:
- NC_000001.11:1165658:G:C
- Gene:
- MIR200B (Varview), LOC124903818 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000011/3
(TOPMED)
- HGVS:
11.
rs1481256707 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 1:1167624
(GRCh38)
1:1103004
(GRCh37)
- Canonical SPDI:
- NC_000001.11:1167623:A:C
- Gene:
- MIR200A (Varview), MIR200B (Varview), MIR429 (Varview), LOC124903818 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,non_coding_transcript_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)
- HGVS:
12.
rs1480147407 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 1:1167206
(GRCh38)
1:1102586
(GRCh37)
- Canonical SPDI:
- NC_000001.11:1167205:C:G,NC_000001.11:1167205:C:T
- Gene:
- MIR200A (Varview), MIR200B (Varview), MIR429 (Varview), LOC124903818 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,non_coding_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000028/1
(
ALFA)
T=0.000041/9
(GnomAD_exomes)
- HGVS:
13.
rs1479084007 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:1165622
(GRCh38)
1:1101002
(GRCh37)
- Canonical SPDI:
- NC_000001.11:1165621:C:T
- Gene:
- MIR200B (Varview), LOC124903818 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000038/10
(TOPMED)
T=0.000071/10
(GnomAD)
- HGVS:
14.
rs1478940738 has merged into rs1307252866 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- C>-,CC
[Show Flanks]
- Chromosome:
- 1:1167042
(GRCh38)
1:1102422
(GRCh37)
- Canonical SPDI:
- NC_000001.11:1167041:CCCCCC:CCCCC,NC_000001.11:1167041:CCCCCC:CCCCCCC
- Gene:
- MIR200A (Varview), MIR200B (Varview), MIR429 (Varview), LOC124903818 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CCCCCCC=0./0
(
ALFA)
-=0.000014/2
(GnomAD)
- HGVS:
15.
rs1478143963 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 1:1166552
(GRCh38)
1:1101932
(GRCh37)
- Canonical SPDI:
- NC_000001.11:1166551:T:A,NC_000001.11:1166551:T:C
- Gene:
- MIR200A (Varview), MIR200B (Varview), LOC124903818 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by cluster
- MAF:
C=0.0164/45
(KOREAN)
- HGVS:
16.
rs1476696682 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTCGGCCCCCCAGGTGCCCACCCCAGGAC>-
[Show Flanks]
- Chromosome:
- 1:1166912
(GRCh38)
1:1102292
(GRCh37)
- Canonical SPDI:
- NC_000001.11:1166909:ACTTCGGCCCCCCAGGTGCCCACCCCAGGAC:AC
- Gene:
- MIR200A (Varview), MIR200B (Varview), LOC124903818 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AC=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000011/3
(TOPMED)
- HGVS:
17.
rs1474841963 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 1:1165366
(GRCh38)
1:1100746
(GRCh37)
- Canonical SPDI:
- NC_000001.11:1165365:G:T
- Gene:
- MIR200B (Varview), LOC124903818 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
18.
rs1474727450 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:1166298
(GRCh38)
1:1101678
(GRCh37)
- Canonical SPDI:
- NC_000001.11:1166297:C:T
- Gene:
- MIR200A (Varview), MIR200B (Varview), LOC124903818 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
19.
rs1474378600 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:1166398
(GRCh38)
1:1101778
(GRCh37)
- Canonical SPDI:
- NC_000001.11:1166397:G:A
- Gene:
- MIR200A (Varview), MIR200B (Varview), LOC124903818 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000042/11
(TOPMED)
A=0.00005/7
(GnomAD)
- HGVS:
20.
rs1469066015 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 1:1165318
(GRCh38)
1:1100698
(GRCh37)
- Canonical SPDI:
- NC_000001.11:1165317:C:G,NC_000001.11:1165317:C:T
- Gene:
- MIR200B (Varview), LOC124903818 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
T=0.000035/1
(TOMMO)
- HGVS: