Links from Gene
Items: 1 to 20 of 1360
1.
rs1491385845 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 17:82038606
(GRCh38)
17:79996483
(GRCh37)
- Canonical SPDI:
- NC_000017.11:82038606::G
- Gene:
- DCXR (Varview), DCXR-DT (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000014/2
(GnomAD)
G=0.000015/4
(TOPMED)
G=0.000177/3
(TOMMO)
- HGVS:
2.
rs1491180087 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 17:82038607
(GRCh38)
17:79996483
(GRCh37)
- Canonical SPDI:
- NC_000017.11:82038605:ACA:A
- Gene:
- DCXR (Varview), DCXR-DT (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
-=0./0
(GnomAD)
-=0.000011/3
(TOPMED)
-=0.000312/2
(1000Genomes)
- HGVS:
3.
rs1490852015 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:82035857
(GRCh38)
17:79993733
(GRCh37)
- Canonical SPDI:
- NC_000017.11:82035856:G:A
- Gene:
- DCXR (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
5.
rs1490531772 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:82038938
(GRCh38)
17:79996814
(GRCh37)
- Canonical SPDI:
- NC_000017.11:82038937:G:A
- Gene:
- DCXR (Varview), DCXR-DT (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
6.
rs1490225969 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 17:82036499
(GRCh38)
17:79994375
(GRCh37)
- Canonical SPDI:
- NC_000017.11:82036498:A:G
- Gene:
- DCXR (Varview), DCXR-DT (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000096/2
(
ALFA)
G=0.000008/1
(ExAC)
G=0.000016/4
(GnomAD_exomes)
- HGVS:
7.
rs1489408291 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 17:82037409
(GRCh38)
17:79995285
(GRCh37)
- Canonical SPDI:
- NC_000017.11:82037408:T:C
- Gene:
- DCXR (Varview), DCXR-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=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
9.
rs1488613885 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 17:82038662
(GRCh38)
17:79996538
(GRCh37)
- Canonical SPDI:
- NC_000017.11:82038661:T:C
- Gene:
- DCXR (Varview), DCXR-DT (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
11.
rs1487666622 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 17:82037687
(GRCh38)
17:79995563
(GRCh37)
- Canonical SPDI:
- NC_000017.11:82037686:G:A,NC_000017.11:82037686:G:C
- Gene:
- DCXR (Varview), DCXR-DT (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000017.11:g.82037687G>A, NC_000017.11:g.82037687G>C, NC_000017.10:g.79995563G>A, NC_000017.10:g.79995563G>C, NG_027681.1:g.5011C>T, NG_027681.1:g.5011C>G, NM_016286.4:c.-5C>T, NM_016286.4:c.-5C>G, NM_016286.3:c.-5C>T, NM_016286.3:c.-5C>G, NM_001195218.1:c.-5C>T, NM_001195218.1:c.-5C>G
12.
rs1487444343 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:82036665
(GRCh38)
17:79994541
(GRCh37)
- Canonical SPDI:
- NC_000017.11:82036664:G:A
- Gene:
- DCXR (Varview), DCXR-DT (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
14.
rs1485779093 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 17:82036289
(GRCh38)
17:79994165
(GRCh37)
- Canonical SPDI:
- NC_000017.11:82036288:T:G
- Gene:
- DCXR (Varview), DCXR-DT (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.00008/1
(
ALFA)
G=0.00034/1
(KOREAN)
- HGVS:
15.
rs1485457279 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 17:82035819
(GRCh38)
17:79993695
(GRCh37)
- Canonical SPDI:
- NC_000017.11:82035818:C:A,NC_000017.11:82035818:C:T
- Gene:
- DCXR (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000019/5
(TOPMED)
A=0.00006/1
(TOMMO)
T=0.000342/1
(KOREAN)
- HGVS:
16.
rs1485154069 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 17:82036482
(GRCh38)
17:79994358
(GRCh37)
- Canonical SPDI:
- NC_000017.11:82036481:G:A,NC_000017.11:82036481:G:C
- Gene:
- DCXR (Varview), DCXR-DT (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
A=0.000004/1
(GnomAD_exomes)
- HGVS:
17.
rs1484558867 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C,T
[Show Flanks]
- Chromosome:
- 17:82036417
(GRCh38)
17:79994293
(GRCh37)
- Canonical SPDI:
- NC_000017.11:82036416:G:C,NC_000017.11:82036416:G:T
- Gene:
- DCXR (Varview), DCXR-DT (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,synonymous_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(GnomAD_exomes)
C=0.000008/2
(TOPMED)
- HGVS:
NC_000017.11:g.82036417G>C, NC_000017.11:g.82036417G>T, NC_000017.10:g.79994293G>C, NC_000017.10:g.79994293G>T, NG_027681.1:g.6281C>G, NG_027681.1:g.6281C>A, NM_016286.4:c.480C>G, NM_016286.4:c.480C>A, NM_016286.3:c.480C>G, NM_016286.3:c.480C>A, NM_001195218.1:c.474C>G, NM_001195218.1:c.474C>A
18.
rs1484485894 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 17:82037035
(GRCh38)
17:79994911
(GRCh37)
- Canonical SPDI:
- NC_000017.11:82037034:T:A
- Gene:
- DCXR (Varview), DCXR-DT (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency
- MAF:
A=0.000007/1
(GnomAD_exomes)
- HGVS:
19.
rs1483736378 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G
[Show Flanks]
- Chromosome:
- 17:82036622
(GRCh38)
17:79994498
(GRCh37)
- Canonical SPDI:
- NC_000017.11:82036621:C:A,NC_000017.11:82036621:C:G
- Gene:
- DCXR (Varview), DCXR-DT (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
A=0.000004/1
(GnomAD_exomes)
A=0.000007/1
(GnomAD)
- HGVS:
NC_000017.11:g.82036622C>A, NC_000017.11:g.82036622C>G, NC_000017.10:g.79994498C>A, NC_000017.10:g.79994498C>G, NG_027681.1:g.6076G>T, NG_027681.1:g.6076G>C, NM_016286.4:c.370G>T, NM_016286.4:c.370G>C, NM_016286.3:c.370G>T, NM_016286.3:c.370G>C, NM_001195218.1:c.364G>T, NM_001195218.1:c.364G>C, NP_057370.1:p.Ala124Ser, NP_057370.1:p.Ala124Pro, NP_001182147.1:p.Ala122Ser, NP_001182147.1:p.Ala122Pro
20.
rs1483328053 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:82037155
(GRCh38)
17:79995031
(GRCh37)
- Canonical SPDI:
- NC_000017.11:82037154:G:A
- Gene:
- DCXR (Varview), DCXR-DT (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000019/5
(TOPMED)
- HGVS: