Links from Gene
Items: 1 to 20 of 762
2.
rs1490767194 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:31560028
(GRCh38)
17:29887047
(GRCh37)
- Canonical SPDI:
- NC_000017.11:31560027:G:A
- Gene:
- MIR193A (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency
- MAF:
A=0.000004/1
(GnomAD_exomes)
- HGVS:
4.
rs1489869301 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 17:31560246
(GRCh38)
17:29887265
(GRCh37)
- Canonical SPDI:
- NC_000017.11:31560245:A:C
- Gene:
- MIR193A (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
5.
rs1488964137 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 17:31559417
(GRCh38)
17:29886436
(GRCh37)
- Canonical SPDI:
- NC_000017.11:31559416:T:G
- Gene:
- MIR193A (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000054/1
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
G=0.000223/1
(Estonian)
- HGVS:
6.
rs1488874470 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 17:31559207
(GRCh38)
17:29886226
(GRCh37)
- Canonical SPDI:
- NC_000017.11:31559206:G:C
- Gene:
- MIR193A (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
8.
rs1485110627 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 17:31559143
(GRCh38)
17:29886162
(GRCh37)
- Canonical SPDI:
- NC_000017.11:31559142:C:T
- Gene:
- MIR193A (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
9.
rs1484472823 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:31559694
(GRCh38)
17:29886713
(GRCh37)
- Canonical SPDI:
- NC_000017.11:31559693:G:A
- Gene:
- MIR193A (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
A=0.000019/5
(TOPMED)
- HGVS:
10.
rs1483578679 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:31559609
(GRCh38)
17:29886628
(GRCh37)
- Canonical SPDI:
- NC_000017.11:31559608:G:A
- Gene:
- MIR193A (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
11.
rs1481943948 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 17:31559988
(GRCh38)
17:29887007
(GRCh37)
- Canonical SPDI:
- NC_000017.11:31559987:C:G
- Gene:
- MIR193A (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
12.
rs1481673830 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 17:31558552
(GRCh38)
17:29885571
(GRCh37)
- Canonical SPDI:
- NC_000017.11:31558551:A:G
- Gene:
- MIR193A (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
13.
rs1480842599 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 17:31559780
(GRCh38)
17:29886799
(GRCh37)
- Canonical SPDI:
- NC_000017.11:31559779:G:A,NC_000017.11:31559779:G:C
- Gene:
- MIR193A (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
14.
rs1476255342 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 17:31558938
(GRCh38)
17:29885957
(GRCh37)
- Canonical SPDI:
- NC_000017.11:31558937:T:G
- Gene:
- MIR193A (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
15.
rs1475918569 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 17:31558263
(GRCh38)
17:29885282
(GRCh37)
- Canonical SPDI:
- NC_000017.11:31558262:A:G
- Gene:
- MIR193A (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
16.
rs1475412207 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 17:31560276
(GRCh38)
17:29887295
(GRCh37)
- Canonical SPDI:
- NC_000017.11:31560275:C:T
- Gene:
- MIR193A (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000054/1
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
T=0.000223/1
(Estonian)
- HGVS:
17.
rs1474446962 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G
[Show Flanks]
- Chromosome:
- 17:31558982
(GRCh38)
17:29886001
(GRCh37)
- Canonical SPDI:
- NC_000017.11:31558981:C:A,NC_000017.11:31558981:C:G
- Gene:
- MIR193A (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
18.
rs1474285398 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 17:31558774
(GRCh38)
17:29885793
(GRCh37)
- Canonical SPDI:
- NC_000017.11:31558773:C:A
- Gene:
- MIR193A (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
19.
rs1473628818 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:31559307
(GRCh38)
17:29886326
(GRCh37)
- Canonical SPDI:
- NC_000017.11:31559306:G:A
- Gene:
- MIR193A (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
20.
rs1473433840 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 17:31558688
(GRCh38)
17:29885707
(GRCh37)
- Canonical SPDI:
- NC_000017.11:31558687:C:T
- Gene:
- MIR193A (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency
- MAF:
T=0.000007/1
(GnomAD)
- HGVS: