Links from Nucleotide
Items: 1 to 20 of 240
1.
rs1489113259 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 14:24298421
(GRCh38)
14:24767627
(GRCh37)
- Canonical SPDI:
- NC_000014.9:24298420:C:A,NC_000014.9:24298420:C:T
- Gene:
- DHRS1 (Varview), NOP9 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000021/3
(GnomAD)
- HGVS:
2.
rs1488764889 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:24298243
(GRCh38)
14:24767449
(GRCh37)
- Canonical SPDI:
- NC_000014.9:24298242:G:A
- Gene:
- DHRS1 (Varview), NOP9 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
3.
rs1478757908 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:24298531
(GRCh38)
14:24767737
(GRCh37)
- Canonical SPDI:
- NC_000014.9:24298530:C:T
- Gene:
- DHRS1 (Varview), NOP9 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,genic_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:
4.
rs1477484728 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 14:24298352
(GRCh38)
14:24767558
(GRCh37)
- Canonical SPDI:
- NC_000014.9:24298351:A:G
- Gene:
- DHRS1 (Varview), NOP9 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
5.
rs1466439906 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 14:24298911
(GRCh38)
14:24768117
(GRCh37)
- Canonical SPDI:
- NC_000014.9:24298910:T:C
- Gene:
- DHRS1 (Varview), NOP9 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000009/2
(GnomAD_exomes)
- HGVS:
6.
rs1458794329 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 14:24299199
(GRCh38)
14:24768405
(GRCh37)
- Canonical SPDI:
- NC_000014.9:24299198:G:A,NC_000014.9:24299198:G:T
- Gene:
- DHRS1 (Varview), NOP9 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
- HGVS:
NC_000014.9:g.24299199G>A, NC_000014.9:g.24299199G>T, NG_046135.1:g.966G>A, NG_046135.1:g.966G>T, NW_018654722.1:g.600177G>A, NW_018654722.1:g.600177G>T, NC_000014.8:g.24768405G>A, NC_000014.8:g.24768405G>T, XM_005267385.2:c.-756G>A, XM_005267385.2:c.-756G>T, XM_047431054.1:c.-756G>A, XM_047431054.1:c.-756G>T, XM_047431053.1:c.-756G>A, XM_047431053.1:c.-756G>T, XM_047431052.1:c.-756G>A, XM_047431052.1:c.-756G>T, XM_047431055.1:c.-756G>A, XM_047431055.1:c.-756G>T
7.
rs1458404396 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 14:24298262
(GRCh38)
14:24767468
(GRCh37)
- Canonical SPDI:
- NC_000014.9:24298261:G:C
- Gene:
- DHRS1 (Varview), NOP9 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
8.
rs1458077815 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GGC>-
[Show Flanks]
- Chromosome:
- 14:24298779
(GRCh38)
14:24767985
(GRCh37)
- Canonical SPDI:
- NC_000014.9:24298775:GGCGGC:GGC
- Gene:
- DHRS1 (Varview), NOP9 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
GGCGGC=0.0004/2
(
ALFA)
-=0.0004/2
(Estonian)
- HGVS:
9.
rs1457481729 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 14:24298641
(GRCh38)
14:24767847
(GRCh37)
- Canonical SPDI:
- NC_000014.9:24298640:T:C
- Gene:
- DHRS1 (Varview), NOP9 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
10.
rs1453626780 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:24298336
(GRCh38)
14:24767542
(GRCh37)
- Canonical SPDI:
- NC_000014.9:24298335:G:A
- Gene:
- DHRS1 (Varview), NOP9 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000023/6
(TOPMED)
- HGVS:
11.
rs1448303350 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:24298726
(GRCh38)
14:24767932
(GRCh37)
- Canonical SPDI:
- NC_000014.9:24298725:C:T
- Gene:
- DHRS1 (Varview), NOP9 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
12.
rs1446221266 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CTTTTCTTT>-
[Show Flanks]
- Chromosome:
- 14:24298593
(GRCh38)
14:24767799
(GRCh37)
- Canonical SPDI:
- NC_000014.9:24298583:CTTTTCTTTCTTTTCTTT:CTTTTCTTT
- Gene:
- DHRS1 (Varview), NOP9 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
CTTTTCTTTCTTTTCTTT=0./0
(
ALFA)
-=0.000011/3
(TOPMED)
- HGVS:
13.
rs1444609593 has merged into rs1194724119 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GT>-,GTGT
[Show Flanks]
- Chromosome:
- 14:24299180
(GRCh38)
14:24768386
(GRCh37)
- Canonical SPDI:
- NC_000014.9:24299170:TGTGTGTGTGT:TGTGTGTGT,NC_000014.9:24299170:TGTGTGTGTGT:TGTGTGTGTGTGT
- Gene:
- DHRS1 (Varview), NOP9 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGTGTGTGTGT=0./0
(
ALFA)
TG=0.000014/2
(GnomAD)
-=0.004673/1
(Vietnamese)
- HGVS:
NC_000014.9:g.24299172GT[4], NC_000014.9:g.24299172GT[6], NG_046135.1:g.939GT[4], NG_046135.1:g.939GT[6], NW_018654722.1:g.600150GT[4], NW_018654722.1:g.600150GT[6], NC_000014.8:g.24768378GT[4], NC_000014.8:g.24768378GT[6], XM_005267385.2:c.-783GT[4], XM_005267385.2:c.-783GT[6], XM_047431054.1:c.-783GT[4], XM_047431054.1:c.-783GT[6], XM_047431053.1:c.-783GT[4], XM_047431053.1:c.-783GT[6], XM_047431052.1:c.-783GT[4], XM_047431052.1:c.-783GT[6], XM_047431055.1:c.-783GT[4], XM_047431055.1:c.-783GT[6]
14.
rs1442538440 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 14:24298987
(GRCh38)
14:24768193
(GRCh37)
- Canonical SPDI:
- NC_000014.9:24298986:A:G
- Gene:
- DHRS1 (Varview), NOP9 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,coding_sequence_variant,upstream_transcript_variant,synonymous_variant,genic_upstream_transcript_variant
- Validated:
- by frequency
- MAF:
G=0.000004/1
(GnomAD_exomes)
- HGVS:
NC_000014.9:g.24298987A>G, NG_046135.1:g.754A>G, NW_018654722.1:g.599965A>G, NC_000014.8:g.24768193A>G, NM_138452.3:c.120T>C, NM_138452.2:c.120T>C, NM_001136050.3:c.120T>C, NM_001136050.2:c.120T>C, XM_005267385.2:c.-968A>G, XM_047431054.1:c.-968A>G, XM_047431053.1:c.-968A>G, XM_047431052.1:c.-968A>G, XM_047431055.1:c.-968A>G
15.
rs1440933867 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 14:24298544
(GRCh38)
14:24767750
(GRCh37)
- Canonical SPDI:
- NC_000014.9:24298543:G:C
- Gene:
- DHRS1 (Varview), NOP9 (Varview)
- Functional Consequence:
- genic_upstream_transcript_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:
16.
rs1440331488 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 14:24298809
(GRCh38)
14:24768015
(GRCh37)
- Canonical SPDI:
- NC_000014.9:24298808:A:G
- Gene:
- DHRS1 (Varview), NOP9 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000015/4
(TOPMED)
G=0.000021/3
(GnomAD)
- HGVS:
17.
rs1439510697 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 14:24298978
(GRCh38)
14:24768184
(GRCh37)
- Canonical SPDI:
- NC_000014.9:24298977:G:A,NC_000014.9:24298977:G:T
- Gene:
- DHRS1 (Varview), NOP9 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,coding_sequence_variant,upstream_transcript_variant,synonymous_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
T=0./0
(KOREAN)
T=0.000004/1
(GnomAD_exomes)
- HGVS:
NC_000014.9:g.24298978G>A, NC_000014.9:g.24298978G>T, NG_046135.1:g.745G>A, NG_046135.1:g.745G>T, NW_018654722.1:g.599956G>A, NW_018654722.1:g.599956G>T, NC_000014.8:g.24768184G>A, NC_000014.8:g.24768184G>T, NM_138452.3:c.129C>T, NM_138452.3:c.129C>A, NM_138452.2:c.129C>T, NM_138452.2:c.129C>A, NM_001136050.3:c.129C>T, NM_001136050.3:c.129C>A, NM_001136050.2:c.129C>T, NM_001136050.2:c.129C>A, XM_005267385.2:c.-977G>A, XM_005267385.2:c.-977G>T, XM_047431054.1:c.-977G>A, XM_047431054.1:c.-977G>T, XM_047431053.1:c.-977G>A, XM_047431053.1:c.-977G>T, XM_047431052.1:c.-977G>A, XM_047431052.1:c.-977G>T, XM_047431055.1:c.-977G>A, XM_047431055.1:c.-977G>T
18.
rs1437213798 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 14:24299211
(GRCh38)
14:24768417
(GRCh37)
- Canonical SPDI:
- NC_000014.9:24299210:C:G
- Gene:
- DHRS1 (Varview), NOP9 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
19.
rs1433868391 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 14:24298972
(GRCh38)
14:24768178
(GRCh37)
- Canonical SPDI:
- NC_000014.9:24298971:G:A,NC_000014.9:24298971:G:T
- Gene:
- DHRS1 (Varview), NOP9 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,coding_sequence_variant,upstream_transcript_variant,synonymous_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000004/1
(GnomAD_exomes)
T=0.000004/1
(TOPMED)
- HGVS:
NC_000014.9:g.24298972G>A, NC_000014.9:g.24298972G>T, NG_046135.1:g.739G>A, NG_046135.1:g.739G>T, NW_018654722.1:g.599950G>A, NW_018654722.1:g.599950G>T, NC_000014.8:g.24768178G>A, NC_000014.8:g.24768178G>T, NM_138452.3:c.135C>T, NM_138452.3:c.135C>A, NM_138452.2:c.135C>T, NM_138452.2:c.135C>A, NM_001136050.3:c.135C>T, NM_001136050.3:c.135C>A, NM_001136050.2:c.135C>T, NM_001136050.2:c.135C>A, XM_005267385.2:c.-983G>A, XM_005267385.2:c.-983G>T, XM_047431054.1:c.-983G>A, XM_047431054.1:c.-983G>T, XM_047431053.1:c.-983G>A, XM_047431053.1:c.-983G>T, XM_047431052.1:c.-983G>A, XM_047431052.1:c.-983G>T, XM_047431055.1:c.-983G>A, XM_047431055.1:c.-983G>T