Links from Gene
Items: 1 to 20 of 978
1.
rs1489840665 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 17:5467464
(GRCh38)
17:5370784
(GRCh37)
- Canonical SPDI:
- NC_000017.11:5467463:A:G
- Gene:
- DHX33 (Varview), DHX33-DT (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
- HGVS:
2.
rs1489151046 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 17:5467978
(GRCh38)
17:5371298
(GRCh37)
- Canonical SPDI:
- NC_000017.11:5467977:C:A,NC_000017.11:5467977:C:T
- Gene:
- DHX33 (Varview), DHX33-DT (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
3.
rs1487856669 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 17:5468930
(GRCh38)
17:5372250
(GRCh37)
- Canonical SPDI:
- NC_000017.11:5468929:G:A,NC_000017.11:5468929:G:C
- Gene:
- DHX33 (Varview), DHX33-DT (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,2KB_upstream_variant,genic_upstream_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0./0
(GnomAD)
- HGVS:
NC_000017.11:g.5468930G>A, NC_000017.11:g.5468930G>C, NC_000017.10:g.5372250G>A, NC_000017.10:g.5372250G>C, NM_020162.4:c.-71C>T, NM_020162.4:c.-71C>G, NM_020162.3:c.-71C>T, NM_020162.3:c.-71C>G, NM_001199699.2:c.-429C>T, NM_001199699.2:c.-429C>G, NM_001199699.1:c.-429C>T, NM_001199699.1:c.-429C>G, XM_047436418.1:c.-71C>T, XM_047436418.1:c.-71C>G
4.
rs1487631458 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 17:5468729
(GRCh38)
17:5372049
(GRCh37)
- Canonical SPDI:
- NC_000017.11:5468728:C:G
- Gene:
- DHX33 (Varview), DHX33-DT (Varview)
- Functional Consequence:
- coding_sequence_variant,2KB_upstream_variant,5_prime_UTR_variant,missense_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
5.
rs1487532726 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 17:5468672
(GRCh38)
17:5371992
(GRCh37)
- Canonical SPDI:
- NC_000017.11:5468671:T:C
- Gene:
- DHX33 (Varview), DHX33-DT (Varview)
- Functional Consequence:
- coding_sequence_variant,2KB_upstream_variant,5_prime_UTR_variant,missense_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
6.
rs1487248763 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:5469444
(GRCh38)
17:5372764
(GRCh37)
- Canonical SPDI:
- NC_000017.11:5469443:G:A
- Gene:
- DHX33 (Varview), DHX33-DT (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
7.
rs1487217124 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 17:5467267
(GRCh38)
17:5370587
(GRCh37)
- Canonical SPDI:
- NC_000017.11:5467266:T:C
- Gene:
- DHX33 (Varview), DHX33-DT (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.000071/1
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
9.
rs1486854133 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:5468867
(GRCh38)
17:5372187
(GRCh37)
- Canonical SPDI:
- NC_000017.11:5468866:G:A
- Gene:
- DHX33 (Varview), DHX33-DT (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,2KB_upstream_variant,genic_upstream_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
A=0.000007/1
(GnomAD_exomes)
- HGVS:
10.
rs1486799222 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:5467360
(GRCh38)
17:5370680
(GRCh37)
- Canonical SPDI:
- NC_000017.11:5467359:G:A
- Gene:
- DHX33 (Varview), DHX33-DT (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
11.
rs1486496530 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 17:5469159
(GRCh38)
17:5372479
(GRCh37)
- Canonical SPDI:
- NC_000017.11:5469158:T:C
- Gene:
- DHX33 (Varview), DHX33-DT (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000014/2
(GnomAD)
C=0.000156/1
(1000Genomes)
- HGVS:
12.
rs1486237863 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 17:5468290
(GRCh38)
17:5371610
(GRCh37)
- Canonical SPDI:
- NC_000017.11:5468289:A:C,NC_000017.11:5468289:A:G
- Gene:
- DHX33 (Varview), DHX33-DT (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by cluster
- MAF:
G=0.0002/1
(1000Genomes)
C=0.0038/7
(Korea1K)
- HGVS:
13.
rs1486056043 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 17:5469867
(GRCh38)
17:5373187
(GRCh37)
- Canonical SPDI:
- NC_000017.11:5469866:T:C
- Gene:
- DHX33 (Varview), DHX33-DT (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
14.
rs1483577391 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:5469052
(GRCh38)
17:5372372
(GRCh37)
- Canonical SPDI:
- NC_000017.11:5469051:G:A
- Gene:
- DHX33 (Varview), DHX33-DT (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:
15.
rs1482606119 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 17:5468612
(GRCh38)
17:5371932
(GRCh37)
- Canonical SPDI:
- NC_000017.11:5468611:A:C
- Gene:
- DHX33 (Varview), DHX33-DT (Varview)
- Functional Consequence:
- coding_sequence_variant,2KB_upstream_variant,5_prime_UTR_variant,missense_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency
- MAF:
C=0.000004/1
(GnomAD_exomes)
- HGVS:
16.
rs1481288903 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 17:5470185
(GRCh38)
17:5373505
(GRCh37)
- Canonical SPDI:
- NC_000017.11:5470184:T:C
- Gene:
- DHX33 (Varview), DHX33-DT (Varview)
- Functional Consequence:
- 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
17.
rs1481082472 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 17:5467579
(GRCh38)
17:5370899
(GRCh37)
- Canonical SPDI:
- NC_000017.11:5467578:C:T
- Gene:
- DHX33 (Varview), DHX33-DT (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
18.
rs1481047547 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 17:5467097
(GRCh38)
17:5370417
(GRCh37)
- Canonical SPDI:
- NC_000017.11:5467096:G:T
- Gene:
- DHX33 (Varview), DHX33-DT (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
19.
rs1480386508 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:5467966
(GRCh38)
17:5371286
(GRCh37)
- Canonical SPDI:
- NC_000017.11:5467965:G:A
- Gene:
- DHX33 (Varview), DHX33-DT (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS: