Links from Gene
Items: 1 to 20 of 1606
1.
rs1489871622 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 4:100186078
(GRCh38)
4:101107235
(GRCh37)
- Canonical SPDI:
- NC_000004.12:100186077:C:T
- Gene:
- DDIT4L (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency
- MAF:
T=0.000007/1
(GnomAD)
- HGVS:
2.
rs1489531519 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 4:100190538
(GRCh38)
4:101111695
(GRCh37)
- Canonical SPDI:
- NC_000004.12:100190537:G:A,NC_000004.12:100190537:G:C
- Gene:
- DDIT4L (Varview), DDIT4L-AS1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.00008/1
(
ALFA)
C=0.00032/5
(TOMMO)
- HGVS:
3.
rs1489226067 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 4:100189961
(GRCh38)
4:101111118
(GRCh37)
- Canonical SPDI:
- NC_000004.12:100189960:C:T
- Gene:
- DDIT4L (Varview), DDIT4L-AS1 (Varview)
- Functional Consequence:
- missense_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
- Validated:
- by frequency
- MAF:
T=0.000004/1
(GnomAD_exomes)
- HGVS:
4.
rs1489082792 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 4:100187690
(GRCh38)
4:101108847
(GRCh37)
- Canonical SPDI:
- NC_000004.12:100187689:A:G
- Gene:
- DDIT4L (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(GnomAD_exomes)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
6.
rs1488817356 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATT>-
[Show Flanks]
- Chromosome:
- 4:100185890
(GRCh38)
4:101107047
(GRCh37)
- Canonical SPDI:
- NC_000004.12:100185887:TTATT:TT
- Gene:
- DDIT4L (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
8.
rs1488035042 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 4:100188445
(GRCh38)
4:101109602
(GRCh37)
- Canonical SPDI:
- NC_000004.12:100188444:A:G
- Gene:
- DDIT4L (Varview), DDIT4L-AS1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
9.
rs1487923436 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 4:100192198
(GRCh38)
4:101113355
(GRCh37)
- Canonical SPDI:
- NC_000004.12:100192197:C:G,NC_000004.12:100192197:C:T
- Gene:
- DDIT4L (Varview), DDIT4L-AS1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
10.
rs1487893821 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 4:100191063
(GRCh38)
4:101112220
(GRCh37)
- Canonical SPDI:
- NC_000004.12:100191062:T:A
- Gene:
- DDIT4L (Varview), DDIT4L-AS1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
- HGVS:
11.
rs1487374256 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 4:100190786
(GRCh38)
4:101111943
(GRCh37)
- Canonical SPDI:
- NC_000004.12:100190785:C:A
- Gene:
- DDIT4L (Varview), DDIT4L-AS1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_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.
rs1486571184 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 4:100189345
(GRCh38)
4:101110502
(GRCh37)
- Canonical SPDI:
- NC_000004.12:100189344:T:C
- Gene:
- DDIT4L (Varview), DDIT4L-AS1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
13.
rs1486348821 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 4:100188299
(GRCh38)
4:101109456
(GRCh37)
- Canonical SPDI:
- NC_000004.12:100188298:G:A,NC_000004.12:100188298:G:T
- Gene:
- DDIT4L (Varview), DDIT4L-AS1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
14.
rs1486261161 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 4:100189717
(GRCh38)
4:101110874
(GRCh37)
- Canonical SPDI:
- NC_000004.12:100189716:C:T
- Gene:
- DDIT4L (Varview), DDIT4L-AS1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000029/4
(GnomAD)
- HGVS:
15.
rs1485601730 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 4:100186002
(GRCh38)
4:101107159
(GRCh37)
- Canonical SPDI:
- NC_000004.12:100186001:T:C
- Gene:
- DDIT4L (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000011/3
(TOPMED)
- HGVS:
16.
rs1485407829 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 4:100188514
(GRCh38)
4:101109671
(GRCh37)
- Canonical SPDI:
- NC_000004.12:100188513:T:C
- Gene:
- DDIT4L (Varview), DDIT4L-AS1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
17.
rs1485303215 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 4:100189187
(GRCh38)
4:101110344
(GRCh37)
- Canonical SPDI:
- NC_000004.12:100189186:C:T
- Gene:
- DDIT4L (Varview), DDIT4L-AS1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000156/1
(1000Genomes)
- HGVS:
18.
rs1484403409 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 4:100189317
(GRCh38)
4:101110474
(GRCh37)
- Canonical SPDI:
- NC_000004.12:100189316:A:G
- Gene:
- DDIT4L (Varview), DDIT4L-AS1 (Varview)
- Functional Consequence:
- intron_variant,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:
19.
rs1484183647 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 4:100185779
(GRCh38)
4:101106936
(GRCh37)
- Canonical SPDI:
- NC_000004.12:100185778:C:A
- Gene:
- DDIT4L (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
20.
rs1484102335 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 4:100190398
(GRCh38)
4:101111555
(GRCh37)
- Canonical SPDI:
- NC_000004.12:100190397:G:C
- Gene:
- DDIT4L (Varview), DDIT4L-AS1 (Varview)
- Functional Consequence:
- intron_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000014/2
(GnomAD)
C=0.000023/6
(TOPMED)
- HGVS: