Links from Nucleotide
Items: 1 to 20 of 31
1.
rs1466341752 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 5:140726230
(GRCh38)
5:140105815
(GRCh37)
- Canonical SPDI:
- NC_000005.10:140726229:C:G,NC_000005.10:140726229:C:T
- Gene:
- VTRNA1-3 (Varview), LOC105378198 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000034/9
(TOPMED)
T=0.000156/1
(1000Genomes)
- HGVS:
2.
rs1437954088 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 5:140726161
(GRCh38)
5:140105746
(GRCh37)
- Canonical SPDI:
- NC_000005.10:140726160:CT:
- Gene:
- VTRNA1-3 (Varview), LOC105378198 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
3.
rs1432829374 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 5:140726223
(GRCh38)
5:140105808
(GRCh37)
- Canonical SPDI:
- NC_000005.10:140726222:C:T
- Gene:
- VTRNA1-3 (Varview), LOC105378198 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,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)
T=0.000035/1
(TOMMO)
- HGVS:
4.
rs1432396028 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 5:140726188
(GRCh38)
5:140105773
(GRCh37)
- Canonical SPDI:
- NC_000005.10:140726187:G:A
- Gene:
- VTRNA1-3 (Varview), LOC105378198 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.035829/425
(
ALFA)
A=0.000029/4
(GnomAD)
A=0.013689/40
(KOREAN)
- HGVS:
5.
rs1366797373 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 5:140726186
(GRCh38)
5:140105771
(GRCh37)
- Canonical SPDI:
- NC_000005.10:140726185:G:A
- Gene:
- VTRNA1-3 (Varview), LOC105378198 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.03633/431
(
ALFA)
A=0.01437/42
(KOREAN)
- HGVS:
6.
rs1364969464 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 5:140726202
(GRCh38)
5:140105787
(GRCh37)
- Canonical SPDI:
- NC_000005.10:140726201:C:T
- Gene:
- VTRNA1-3 (Varview), LOC105378198 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000035/1
(TOMMO)
- HGVS:
7.
rs1359635966 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 5:140726210
(GRCh38)
5:140105795
(GRCh37)
- Canonical SPDI:
- NC_000005.10:140726209:G:A
- Gene:
- VTRNA1-3 (Varview), LOC105378198 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
8.
rs1347696178 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 5:140726234
(GRCh38)
5:140105820
(GRCh37)
- Canonical SPDI:
- NC_000005.10:140726234:T:TT
- Gene:
- VTRNA1-3 (Varview), LOC105378198 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TT=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
9.
rs1296497090 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 5:140726192
(GRCh38)
5:140105777
(GRCh37)
- Canonical SPDI:
- NC_000005.10:140726191:C:G,NC_000005.10:140726191:C:T
- Gene:
- VTRNA1-3 (Varview), LOC105378198 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.00457/51
(
ALFA)
G=0.01198/35
(KOREAN)
- HGVS:
11.
rs1281177725 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 5:140726207
(GRCh38)
5:140105792
(GRCh37)
- Canonical SPDI:
- NC_000005.10:140726206:C:T
- Gene:
- VTRNA1-3 (Varview), LOC105378198 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
T=0.000072/19
(TOPMED)
- HGVS:
12.
rs1275167961 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C,T
[Show Flanks]
- Chromosome:
- 5:140726220
(GRCh38)
5:140105805
(GRCh37)
- Canonical SPDI:
- NC_000005.10:140726219:G:C,NC_000005.10:140726219:G:T
- Gene:
- VTRNA1-3 (Varview), LOC105378198 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.001092/2
(Korea1K)
T=0.001711/5
(KOREAN)
- HGVS:
13.
rs1265620116 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 5:140726225
(GRCh38)
5:140105810
(GRCh37)
- Canonical SPDI:
- NC_000005.10:140726224:G:T
- Gene:
- VTRNA1-3 (Varview), LOC105378198 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
14.
rs1256077399 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 5:140726236
(GRCh38)
5:140105821
(GRCh37)
- Canonical SPDI:
- NC_000005.10:140726235:C:G
- Gene:
- VTRNA1-3 (Varview), LOC105378198 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
15.
rs1220124579 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 5:140726203
(GRCh38)
5:140105788
(GRCh37)
- Canonical SPDI:
- NC_000005.10:140726202:C:G,NC_000005.10:140726202:C:T
- Gene:
- VTRNA1-3 (Varview), LOC105378198 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000011/3
(TOPMED)
- HGVS:
16.
rs1219168568 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 5:140726174
(GRCh38)
5:140105759
(GRCh37)
- Canonical SPDI:
- NC_000005.10:140726173:A:G
- Gene:
- VTRNA1-3 (Varview), LOC105378198 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
- HGVS:
17.
rs1210060490 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 5:140726226
(GRCh38)
5:140105811
(GRCh37)
- Canonical SPDI:
- NC_000005.10:140726225:C:T
- Gene:
- VTRNA1-3 (Varview), LOC105378198 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000023/6
(TOPMED)
- HGVS:
18.
rs1199604240 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 5:140726222
(GRCh38)
5:140105807
(GRCh37)
- Canonical SPDI:
- NC_000005.10:140726221:C:T
- Gene:
- VTRNA1-3 (Varview), LOC105378198 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
19.
rs1020187264 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 5:140726159
(GRCh38)
5:140105744
(GRCh37)
- Canonical SPDI:
- NC_000005.10:140726158:G:T
- Gene:
- VTRNA1-3 (Varview), LOC105378198 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
20.
rs979481003 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 5:140726189
(GRCh38)
5:140105774
(GRCh37)
- Canonical SPDI:
- NC_000005.10:140726188:T:A
- Gene:
- VTRNA1-3 (Varview), LOC105378198 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000019/5
(TOPMED)
- HGVS: