Links from Nucleotide
Items: 1 to 20 of 399
1.
rs1490408363 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 14:95533761
(GRCh38)
14:96000098
(GRCh37)
- Canonical SPDI:
- NC_000014.9:95533760:T:C
- Gene:
- GLRX5 (Varview), SNHG10 (Varview), SCARNA13 (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=0.000014/2
(GnomAD)
C=0.000015/4
(TOPMED)
- HGVS:
2.
rs1486826452 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:95533768
(GRCh38)
14:96000105
(GRCh37)
- Canonical SPDI:
- NC_000014.9:95533767:C:T
- Gene:
- GLRX5 (Varview), SNHG10 (Varview), SCARNA13 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
3.
rs1484273165 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 14:95534588
(GRCh38)
14:96000925
(GRCh37)
- Canonical SPDI:
- NC_000014.9:95534587:C:A,NC_000014.9:95534587:C:T
- Gene:
- GLRX5 (Varview), SNHG10 (Varview), SCARNA13 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
- HGVS:
NC_000014.9:g.95534588C>A, NC_000014.9:g.95534588C>T, NC_000014.8:g.96000925C>A, NC_000014.8:g.96000925C>T, NG_021217.1:g.4603C>A, NG_021217.1:g.4603C>T, NG_033103.1:g.5285G>T, NG_033103.1:g.5285G>A, NR_003138.3:n.285G>T, NR_003138.3:n.285G>A, NR_001459.2:n.285G>T, NR_001459.2:n.285G>A
4.
rs1482614288 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 14:95534567
(GRCh38)
14:96000904
(GRCh37)
- Canonical SPDI:
- NC_000014.9:95534566:G:A,NC_000014.9:95534566:G:C
- Gene:
- GLRX5 (Varview), SNHG10 (Varview), SCARNA13 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000014.9:g.95534567G>A, NC_000014.9:g.95534567G>C, NC_000014.8:g.96000904G>A, NC_000014.8:g.96000904G>C, NG_021217.1:g.4582G>A, NG_021217.1:g.4582G>C, NG_033103.1:g.5306C>T, NG_033103.1:g.5306C>G, NR_003138.3:n.306C>T, NR_003138.3:n.306C>G, NR_001459.2:n.306C>T, NR_001459.2:n.306C>G
5.
rs1482323430 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 14:95534393
(GRCh38)
14:96000730
(GRCh37)
- Canonical SPDI:
- NC_000014.9:95534392:C:G
- Gene:
- GLRX5 (Varview), SNHG10 (Varview), SCARNA13 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
6.
rs1482091590 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- A>-
[Show Flanks]
- Chromosome:
- 14:95534331
(GRCh38)
14:96000668
(GRCh37)
- Canonical SPDI:
- NC_000014.9:95534330:A:
- Gene:
- GLRX5 (Varview), SNHG10 (Varview), SCARNA13 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
- HGVS:
7.
rs1481852392 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 14:95533790
(GRCh38)
14:96000127
(GRCh37)
- Canonical SPDI:
- NC_000014.9:95533789:A:G
- Gene:
- GLRX5 (Varview), SNHG10 (Varview), SCARNA13 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
8.
rs1478006812 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 14:95534749
(GRCh38)
14:96001086
(GRCh37)
- Canonical SPDI:
- NC_000014.9:95534748:G:T
- Gene:
- GLRX5 (Varview), SNHG10 (Varview), SCARNA13 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
9.
rs1477865589 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 14:95534221
(GRCh38)
14:96000558
(GRCh37)
- Canonical SPDI:
- NC_000014.9:95534220:C:A,NC_000014.9:95534220:C:T
- Gene:
- GLRX5 (Varview), SNHG10 (Varview), SCARNA13 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
C=0.5/1
(SGDP_PRJ)
- HGVS:
NC_000014.9:g.95534221C>A, NC_000014.9:g.95534221C>T, NC_000014.8:g.96000558C>A, NC_000014.8:g.96000558C>T, NG_021217.1:g.4236C>A, NG_021217.1:g.4236C>T, NG_033103.1:g.5652G>T, NG_033103.1:g.5652G>A, NR_003138.3:n.652G>T, NR_003138.3:n.652G>A, NR_001459.2:n.652G>T, NR_001459.2:n.652G>A
10.
rs1476062319 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 14:95533818
(GRCh38)
14:96000155
(GRCh37)
- Canonical SPDI:
- NC_000014.9:95533817:G:C
- Gene:
- GLRX5 (Varview), SNHG10 (Varview), SCARNA13 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000066/1
(
ALFA)
C=0.000014/2
(GnomAD)
C=0.000223/1
(Estonian)
- HGVS:
11.
rs1472418926 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:95534059
(GRCh38)
14:96000396
(GRCh37)
- Canonical SPDI:
- NC_000014.9:95534058:G:A
- Gene:
- GLRX5 (Varview), SNHG10 (Varview), SCARNA13 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000011/3
(TOPMED)
- HGVS:
12.
rs1472202465 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 14:95534434
(GRCh38)
14:96000771
(GRCh37)
- Canonical SPDI:
- NC_000014.9:95534433:A:T
- Gene:
- GLRX5 (Varview), SNHG10 (Varview), SCARNA13 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
13.
rs1471168774 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 14:95534126
(GRCh38)
14:96000463
(GRCh37)
- Canonical SPDI:
- NC_000014.9:95534125:T:G
- Gene:
- GLRX5 (Varview), SNHG10 (Varview), SCARNA13 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
14.
rs1470390752 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:95534252
(GRCh38)
14:96000589
(GRCh37)
- Canonical SPDI:
- NC_000014.9:95534251:G:A
- Gene:
- GLRX5 (Varview), SNHG10 (Varview), SCARNA13 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.00034/4
(
ALFA)
A=0.00029/13
(GnomAD)
G=0.5/1
(SGDP_PRJ)
- HGVS:
15.
rs1469825128 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:95533909
(GRCh38)
14:96000246
(GRCh37)
- Canonical SPDI:
- NC_000014.9:95533908:G:A
- Gene:
- GLRX5 (Varview), SNHG10 (Varview), SCARNA13 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_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:
16.
rs1468980882 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:95534682
(GRCh38)
14:96001019
(GRCh37)
- Canonical SPDI:
- NC_000014.9:95534681:C:T
- Gene:
- GLRX5 (Varview), SNHG10 (Varview), SCARNA13 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
17.
rs1465726197 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 14:95534224
(GRCh38)
14:96000561
(GRCh37)
- Canonical SPDI:
- NC_000014.9:95534223:C:G
- Gene:
- GLRX5 (Varview), SNHG10 (Varview), SCARNA13 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
18.
rs1465003412 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,G
[Show Flanks]
- Chromosome:
- 14:95534760
(GRCh38)
14:96001097
(GRCh37)
- Canonical SPDI:
- NC_000014.9:95534759:T:A,NC_000014.9:95534759:T:G
- Gene:
- GLRX5 (Varview), SNHG10 (Varview), SCARNA13 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
NC_000014.9:g.95534760T>A, NC_000014.9:g.95534760T>G, NC_000014.8:g.96001097T>A, NC_000014.8:g.96001097T>G, NG_021217.1:g.4775T>A, NG_021217.1:g.4775T>G, NG_033103.1:g.5113A>T, NG_033103.1:g.5113A>C, NR_003138.3:n.113A>T, NR_003138.3:n.113A>C, NR_001459.2:n.113A>T, NR_001459.2:n.113A>C
19.
rs1464888607 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 14:95534191
(GRCh38)
14:96000528
(GRCh37)
- Canonical SPDI:
- NC_000014.9:95534190:T:A
- Gene:
- GLRX5 (Varview), SNHG10 (Varview), SCARNA13 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000015/2
(GnomAD)
- HGVS:
20.
rs1464549032 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G,T
[Show Flanks]
- Chromosome:
- 14:95534554
(GRCh38)
14:96000891
(GRCh37)
- Canonical SPDI:
- NC_000014.9:95534553:C:A,NC_000014.9:95534553:C:G,NC_000014.9:95534553:C:T
- Gene:
- GLRX5 (Varview), SNHG10 (Varview), SCARNA13 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
G=0.00034/1
(KOREAN)
- HGVS:
NC_000014.9:g.95534554C>A, NC_000014.9:g.95534554C>G, NC_000014.9:g.95534554C>T, NC_000014.8:g.96000891C>A, NC_000014.8:g.96000891C>G, NC_000014.8:g.96000891C>T, NG_021217.1:g.4569C>A, NG_021217.1:g.4569C>G, NG_021217.1:g.4569C>T, NG_033103.1:g.5319G>T, NG_033103.1:g.5319G>C, NG_033103.1:g.5319G>A, NR_003138.3:n.319G>T, NR_003138.3:n.319G>C, NR_003138.3:n.319G>A, NR_001459.2:n.319G>T, NR_001459.2:n.319G>C, NR_001459.2:n.319G>A