Links from Gene
Items: 1 to 20 of 552
1.
rs1488833043 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 2:176148709
(GRCh38)
2:177013437
(GRCh37)
- Canonical SPDI:
- NC_000002.12:176148708:G:T
- Gene:
- MIR10B (Varview)
- Functional Consequence:
- 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.
rs1487540963 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:176150431
(GRCh38)
2:177015159
(GRCh37)
- Canonical SPDI:
- NC_000002.12:176150430:A:G
- Gene:
- HOXD4 (Varview), MIR10B (Varview)
- Functional Consequence:
- upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant
- Validated:
- by frequency
- MAF:
G=0.000008/2
(GnomAD_exomes)
- HGVS:
3.
rs1486783568 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:176150437
(GRCh38)
2:177015165
(GRCh37)
- Canonical SPDI:
- NC_000002.12:176150436:C:T
- Gene:
- HOXD4 (Varview), MIR10B (Varview)
- Functional Consequence:
- upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant
- Validated:
- by frequency
- MAF:
T=0.000004/1
(GnomAD_exomes)
- HGVS:
4.
rs1486317430 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 2:176149137
(GRCh38)
2:177013865
(GRCh37)
- Canonical SPDI:
- NC_000002.12:176149136:A:C
- Gene:
- MIR10B (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
C=0.000106/2
(TOMMO)
C=0.000546/1
(Korea1K)
C=0.001027/3
(KOREAN)
- HGVS:
5.
rs1486178712 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:176149801
(GRCh38)
2:177014529
(GRCh37)
- Canonical SPDI:
- NC_000002.12:176149800:G:A
- Gene:
- HOXD4 (Varview), MIR10B (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
6.
rs1485039730 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTCTTTCTT>-
[Show Flanks]
- Chromosome:
- 2:176150088
(GRCh38)
2:177014816
(GRCh37)
- Canonical SPDI:
- NC_000002.12:176150077:TTTCTTTCTTTTTTTCTTTCTT:TTTCTTTCTT
- Gene:
- HOXD4 (Varview), MIR10B (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
TTTCTTTCTT=0./0
(
ALFA)
-=0.000045/12
(TOPMED)
- HGVS:
7.
rs1484657916 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 2:176149577
(GRCh38)
2:177014305
(GRCh37)
- Canonical SPDI:
- NC_000002.12:176149576:A:C
- Gene:
- HOXD4 (Varview), MIR10B (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000015/4
(TOPMED)
- HGVS:
8.
rs1484501540 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 2:176148941
(GRCh38)
2:177013669
(GRCh37)
- Canonical SPDI:
- NC_000002.12:176148940:A:C
- Gene:
- MIR10B (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
10.
rs1481299352 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:176148380
(GRCh38)
2:177013108
(GRCh37)
- Canonical SPDI:
- NC_000002.12:176148379:G:A
- Gene:
- MIR10B (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
A=0.000035/1
(TOMMO)
- HGVS:
11.
rs1480581337 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 2:176149635
(GRCh38)
2:177014363
(GRCh37)
- Canonical SPDI:
- NC_000002.12:176149634:T:C,NC_000002.12:176149634:T:G
- Gene:
- HOXD4 (Varview), MIR10B (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
12.
rs1479917833 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 2:176149852
(GRCh38)
2:177014580
(GRCh37)
- Canonical SPDI:
- NC_000002.12:176149851:G:T
- Gene:
- HOXD4 (Varview), MIR10B (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
13.
rs1478722977 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 2:176148694
(GRCh38)
2:177013422
(GRCh37)
- Canonical SPDI:
- NC_000002.12:176148693:T:G
- Gene:
- MIR10B (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
14.
rs1478444097 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 2:176150222
(GRCh38)
2:177014950
(GRCh37)
- Canonical SPDI:
- NC_000002.12:176150221:G:A,NC_000002.12:176150221:G:T
- Gene:
- HOXD4 (Varview), MIR10B (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
- HGVS:
15.
rs1475008084 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C,T
[Show Flanks]
- Chromosome:
- 2:176148470
(GRCh38)
2:177013198
(GRCh37)
- Canonical SPDI:
- NC_000002.12:176148469:G:C,NC_000002.12:176148469:G:T
- Gene:
- MIR10B (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
16.
rs1474194750 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 2:176150684
(GRCh38)
2:177015412
(GRCh37)
- Canonical SPDI:
- NC_000002.12:176150683:A:C
- Gene:
- HOXD3 (Varview), HOXD4 (Varview), MIR10B (Varview)
- Functional Consequence:
- downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000014/2
(GnomAD)
C=0.000038/10
(TOPMED)
- HGVS:
17.
rs1472196637 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GAGAGAGAGAAAGAGAGA>-
[Show Flanks]
- Chromosome:
- 2:176150632
(GRCh38)
2:177015360
(GRCh37)
- Canonical SPDI:
- NC_000002.12:176150616:AGAGAGAAAGAGAGAGAGAGAGAGAAAGAGAGA:AGAGAGAAAGAGAGA
- Gene:
- HOXD3 (Varview), HOXD4 (Varview), MIR10B (Varview)
- Functional Consequence:
- downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AGAGAGAAAGAGAGA=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
19.
rs1469186039 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:176150763
(GRCh38)
2:177015491
(GRCh37)
- Canonical SPDI:
- NC_000002.12:176150762:G:A
- Gene:
- HOXD3 (Varview), HOXD4 (Varview), MIR10B (Varview)
- Functional Consequence:
- downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000015/4
(TOPMED)
A=0.000021/3
(GnomAD)
- HGVS:
20.
rs1468174760 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:176148843
(GRCh38)
2:177013571
(GRCh37)
- Canonical SPDI:
- NC_000002.12:176148842:G:A
- Gene:
- MIR10B (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000071/1
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS: