Links from Nucleotide
Items: 1 to 20 of 371
1.
rs1489738765 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:45304930
(GRCh38)
1:45770602
(GRCh37)
- Canonical SPDI:
- NC_000001.11:45304929:C:T
- Gene:
- LINC01144 (Varview), LOC105378691 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
2.
rs1485613779 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:45304729
(GRCh38)
1:45770401
(GRCh37)
- Canonical SPDI:
- NC_000001.11:45304728:A:G
- Gene:
- LINC01144 (Varview), LOC105378691 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000015/4
(TOPMED)
- HGVS:
3.
rs1485400677 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 1:45304419
(GRCh38)
1:45770091
(GRCh37)
- Canonical SPDI:
- NC_000001.11:45304418:T:A
- Gene:
- LINC01144 (Varview), LOC105378691 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000021/3
(GnomAD)
- HGVS:
4.
rs1481255499 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:45304595
(GRCh38)
1:45770267
(GRCh37)
- Canonical SPDI:
- NC_000001.11:45304594:G:A
- Gene:
- LINC01144 (Varview), LOC105378691 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
5.
rs1477160252 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 1:45303931
(GRCh38)
1:45769603
(GRCh37)
- Canonical SPDI:
- NC_000001.11:45303930:T:G
- Gene:
- LINC01144 (Varview), LOC105378691 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,2KB_upstream_variant,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:
6.
rs1474695673 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 1:45304932
(GRCh38)
1:45770604
(GRCh37)
- Canonical SPDI:
- NC_000001.11:45304931:G:
- Gene:
- LINC01144 (Varview), LOC105378691 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
- HGVS:
7.
rs1473539663 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:45305335
(GRCh38)
1:45771007
(GRCh37)
- Canonical SPDI:
- NC_000001.11:45305334:G:A
- Gene:
- LINC01144 (Varview), LOC105378691 (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:
8.
rs1472878789 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:45304013
(GRCh38)
1:45769685
(GRCh37)
- Canonical SPDI:
- NC_000001.11:45304012:C:T
- Gene:
- LINC01144 (Varview), LOC105378691 (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)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
9.
rs1471826719 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:45304287
(GRCh38)
1:45769959
(GRCh37)
- Canonical SPDI:
- NC_000001.11:45304286:G:A
- Gene:
- LINC01144 (Varview), LOC105378691 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
10.
rs1466713311 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:45305477
(GRCh38)
1:45771149
(GRCh37)
- Canonical SPDI:
- NC_000001.11:45305476:G:A
- Gene:
- LINC01144 (Varview), LOC105378691 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000035/1
(TOMMO)
- HGVS:
11.
rs1463021589 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 1:45304466
(GRCh38)
1:45770138
(GRCh37)
- Canonical SPDI:
- NC_000001.11:45304465:C:G
- Gene:
- LINC01144 (Varview), LOC105378691 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
12.
rs1457468064 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 1:45304165
(GRCh38)
1:45769837
(GRCh37)
- Canonical SPDI:
- NC_000001.11:45304164:C:A
- Gene:
- LINC01144 (Varview), LOC105378691 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
13.
rs1456434880 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 1:45305051
(GRCh38)
1:45770723
(GRCh37)
- Canonical SPDI:
- NC_000001.11:45305050:C:G
- Gene:
- LINC01144 (Varview), LOC105378691 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
14.
rs1455350403 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 1:45304704
(GRCh38)
1:45770376
(GRCh37)
- Canonical SPDI:
- NC_000001.11:45304703:G:T
- Gene:
- LINC01144 (Varview), LOC105378691 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
15.
rs1453268899 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 1:45305273
(GRCh38)
1:45770945
(GRCh37)
- Canonical SPDI:
- NC_000001.11:45305272:GGG:GG
- Gene:
- LINC01144 (Varview), LOC105378691 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GG=0./0
(
ALFA)
-=0.000014/2
(GnomAD)
-=0.000019/5
(TOPMED)
- HGVS:
16.
rs1452607827 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:45304947
(GRCh38)
1:45770619
(GRCh37)
- Canonical SPDI:
- NC_000001.11:45304946:A:G
- Gene:
- LINC01144 (Varview), LOC105378691 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
17.
rs1452350034 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:45304090
(GRCh38)
1:45769762
(GRCh37)
- Canonical SPDI:
- NC_000001.11:45304089:G:A
- Gene:
- LINC01144 (Varview), LOC105378691 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000224/1
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000223/1
(Estonian)
- HGVS:
18.
rs1445589149 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 1:45304826
(GRCh38)
1:45770498
(GRCh37)
- Canonical SPDI:
- NC_000001.11:45304825:G:T
- Gene:
- LINC01144 (Varview), LOC105378691 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
20.
rs1443958928 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:45304107
(GRCh38)
1:45769779
(GRCh37)
- Canonical SPDI:
- NC_000001.11:45304106:C:T
- Gene:
- LINC01144 (Varview), LOC105378691 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000021/3
(GnomAD)
- HGVS: