Links from Gene
Items: 1 to 20 of 1293
1.
rs1490908805 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 14:101560383
(GRCh38)
14:102026720
(GRCh37)
- Canonical SPDI:
- NC_000014.9:101560382:T:A,NC_000014.9:101560382:T:C
- Gene:
- DIO3 (Varview), DIO3OS (Varview), MIR1247 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
NC_000014.9:g.101560383T>A, NC_000014.9:g.101560383T>C, NC_000014.8:g.102026720T>A, NC_000014.8:g.102026720T>C, NR_152592.1:n.40A>T, NR_152592.1:n.40A>G, NR_152590.1:n.40A>T, NR_152590.1:n.40A>G, NR_152593.1:n.40A>T, NR_152593.1:n.40A>G, NR_152591.1:n.40A>T, NR_152591.1:n.40A>G, NR_152589.1:n.40A>T, NR_152589.1:n.40A>G, NR_152588.1:n.40A>T, NR_152588.1:n.40A>G, NR_031649.1:n.40A>T, NR_031649.1:n.40A>G
2.
rs1490718325 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:101562352
(GRCh38)
14:102028689
(GRCh37)
- Canonical SPDI:
- NC_000014.9:101562351:C:T
- Gene:
- DIO3 (Varview), DIO3OS (Varview), MIR1247 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant,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:
3.
rs1490232527 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 14:101562786
(GRCh38)
14:102029123
(GRCh37)
- Canonical SPDI:
- NC_000014.9:101562785:T:G
- Gene:
- DIO3 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
4.
rs1489957882 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:101563378
(GRCh38)
14:102029715
(GRCh37)
- Canonical SPDI:
- NC_000014.9:101563377:G:A
- Gene:
- DIO3 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
- HGVS:
5.
rs1489195213 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- 14:101561295
(GRCh38)
14:102027632
(GRCh37)
- Canonical SPDI:
- NC_000014.9:101561294:CCCCC:CCCC
- Gene:
- DIO3 (Varview), DIO3OS (Varview), MIR1247 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
CCCC=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
6.
rs1489133259 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 14:101560379
(GRCh38)
14:102026716
(GRCh37)
- Canonical SPDI:
- NC_000014.9:101560378:C:G
- Gene:
- DIO3 (Varview), DIO3OS (Varview), MIR1247 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000015/4
(TOPMED)
- HGVS:
8.
rs1489021125 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 14:101559437
(GRCh38)
14:102025774
(GRCh37)
- Canonical SPDI:
- NC_000014.9:101559436:C:A
- Gene:
- DIO3 (Varview), DIO3OS (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
10.
rs1488381243 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTG>-
[Show Flanks]
- Chromosome:
- 14:101563245
(GRCh38)
14:102029582
(GRCh37)
- Canonical SPDI:
- NC_000014.9:101563243:GTTG:G
- Gene:
- DIO3 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
- HGVS:
11.
rs1487291753 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 14:101559761
(GRCh38)
14:102026098
(GRCh37)
- Canonical SPDI:
- NC_000014.9:101559760:C:A
- Gene:
- DIO3 (Varview), DIO3OS (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000224/1
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000223/1
(Estonian)
- HGVS:
12.
rs1485776590 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 14:101563870
(GRCh38)
14:102030207
(GRCh37)
- Canonical SPDI:
- NC_000014.9:101563869:T:C
- Gene:
- DIO3 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.000084/1
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
13.
rs1485344653 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G
[Show Flanks]
- Chromosome:
- 14:101560282
(GRCh38)
14:102026619
(GRCh37)
- Canonical SPDI:
- NC_000014.9:101560281:C:A,NC_000014.9:101560281:C:G
- Gene:
- DIO3 (Varview), DIO3OS (Varview), MIR1247 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,non_coding_transcript_variant,500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000005/1
(GnomAD_exomes)
- HGVS:
NC_000014.9:g.101560282C>A, NC_000014.9:g.101560282C>G, NC_000014.8:g.102026619C>A, NC_000014.8:g.102026619C>G, NM_022345.2:c.-518G>T, NM_022345.2:c.-518G>C, NR_152592.1:n.141G>T, NR_152592.1:n.141G>C, NR_152590.1:n.141G>T, NR_152590.1:n.141G>C, NR_152593.1:n.141G>T, NR_152593.1:n.141G>C, NR_152591.1:n.141G>T, NR_152591.1:n.141G>C, NR_152589.1:n.141G>T, NR_152589.1:n.141G>C, NR_152588.1:n.141G>T, NR_152588.1:n.141G>C
14.
rs1485173839 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 14:101560798
(GRCh38)
14:102027136
(GRCh37)
- Canonical SPDI:
- NC_000014.9:101560798:C:CC
- Gene:
- DIO3 (Varview), DIO3OS (Varview), MIR1247 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
CC=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
15.
rs1484193631 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 14:101561113
(GRCh38)
14:102027450
(GRCh37)
- Canonical SPDI:
- NC_000014.9:101561112:T:G
- Gene:
- DIO3 (Varview), DIO3OS (Varview), MIR1247 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.00004/1
(TOMMO)
- HGVS:
16.
rs1482554577 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C,T
[Show Flanks]
- Chromosome:
- 14:101559506
(GRCh38)
14:102025843
(GRCh37)
- Canonical SPDI:
- NC_000014.9:101559505:G:C,NC_000014.9:101559505:G:T
- Gene:
- DIO3 (Varview), DIO3OS (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000026/7
(TOPMED)
- HGVS:
17.
rs1482431440 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 14:101560501
(GRCh38)
14:102026838
(GRCh37)
- Canonical SPDI:
- NC_000014.9:101560500:C:G
- Gene:
- DIO3 (Varview), DIO3OS (Varview), MIR1247 (Varview)
- Functional Consequence:
- upstream_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)
- HGVS:
18.
rs1481930533 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 14:101559588
(GRCh38)
14:102025925
(GRCh37)
- Canonical SPDI:
- NC_000014.9:101559587:C:A
- Gene:
- DIO3 (Varview), DIO3OS (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_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)
- HGVS:
20.
rs1481771332 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:101560788
(GRCh38)
14:102027125
(GRCh37)
- Canonical SPDI:
- NC_000014.9:101560787:G:A
- Gene:
- DIO3 (Varview), DIO3OS (Varview), MIR1247 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000015/4
(TOPMED)
A=0.000022/3
(GnomAD)
- HGVS: