Links from Nucleotide
Items: 1 to 20 of 118
1.
rs1483523167 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 1:116705976
(GRCh38)
1:117248598
(GRCh37)
- Canonical SPDI:
- NC_000001.11:116705975:C:A
- Gene:
- LINC02868 (Varview), LOC105378926 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency
- MAF:
A=0.000007/1
(GnomAD_exomes)
- HGVS:
3.
rs1474773096 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 1:116694805
(GRCh38)
1:117237427
(GRCh37)
- Canonical SPDI:
- NC_000001.11:116694804:C:A
- Gene:
- LINC02868 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency
- MAF:
A=0.000007/1
(GnomAD_exomes)
- HGVS:
4.
rs1468469751 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:116694189
(GRCh38)
1:117236811
(GRCh37)
- Canonical SPDI:
- NC_000001.11:116694188:T:C
- Gene:
- LINC02868 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/3
(
ALFA)
C=0.000014/2
(GnomAD)
C=0.000026/7
(TOPMED)
C=0.000034/5
(GnomAD_exomes)
- HGVS:
5.
rs1467144468 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 1:116706517
(GRCh38)
1:117249139
(GRCh37)
- Canonical SPDI:
- NC_000001.11:116706516:T:G
- Gene:
- LINC02868 (Varview), LOC105378926 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency
- MAF:
G=0.000007/1
(GnomAD_exomes)
- HGVS:
6.
rs1459671706 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:116694147
(GRCh38)
1:117236769
(GRCh37)
- Canonical SPDI:
- NC_000001.11:116694146:T:C
- Gene:
- LINC02868 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
T=0.5/1
(SGDP_PRJ)
- HGVS:
7.
rs1445425822 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 1:116694780
(GRCh38)
1:117237402
(GRCh37)
- Canonical SPDI:
- NC_000001.11:116694779:C:G
- Gene:
- LINC02868 (Varview)
- Functional Consequence:
- non_coding_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:
8.
rs1440249480 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 1:116694134
(GRCh38)
1:117236756
(GRCh37)
- Canonical SPDI:
- NC_000001.11:116694133:C:A,NC_000001.11:116694133:C:T
- Gene:
- LINC02868 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.00002/3
(GnomAD_exomes)
A=0.000546/1
(Korea1K)
- HGVS:
9.
rs1433141098 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:116705996
(GRCh38)
1:117248618
(GRCh37)
- Canonical SPDI:
- NC_000001.11:116705995:C:T
- Gene:
- LINC02868 (Varview), LOC105378926 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by cluster
- MAF:
T=0.000013/2
(GnomAD_exomes)
T=0.000035/1
(TOMMO)
- HGVS:
10.
rs1429635816 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:116706566
(GRCh38)
1:117249188
(GRCh37)
- Canonical SPDI:
- NC_000001.11:116706565:G:A
- Gene:
- LINC02868 (Varview), LOC105378926 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by cluster
- MAF:
A=0.000021/3
(GnomAD_exomes)
- HGVS:
11.
rs1429133085 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:116706481
(GRCh38)
1:117249103
(GRCh37)
- Canonical SPDI:
- NC_000001.11:116706480:A:G
- Gene:
- LINC02868 (Varview), LOC105378926 (Varview)
- Functional Consequence:
- non_coding_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:
12.
rs1426441671 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:116694799
(GRCh38)
1:117237421
(GRCh37)
- Canonical SPDI:
- NC_000001.11:116694798:A:G
- Gene:
- LINC02868 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD_exomes)
G=0.000014/2
(GnomAD)
- HGVS:
14.
rs1422153409 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:116706550
(GRCh38)
1:117249172
(GRCh37)
- Canonical SPDI:
- NC_000001.11:116706549:A:G
- Gene:
- LINC02868 (Varview), LOC105378926 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD_exomes)
G=0.000008/2
(TOPMED)
- HGVS:
15.
rs1421539982 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- 1:116694825
(GRCh38)
1:117237447
(GRCh37)
- Canonical SPDI:
- NC_000001.11:116694824:CCC:CC
- Gene:
- LINC02868 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
CC=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
- HGVS:
16.
rs1420882835 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 1:116705984
(GRCh38)
1:117248606
(GRCh37)
- Canonical SPDI:
- NC_000001.11:116705983:G:A,NC_000001.11:116705983:G:T
- Gene:
- LINC02868 (Varview), LOC105378926 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000013/2
(GnomAD_exomes)
- HGVS:
17.
rs1394685848 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 1:116705995
(GRCh38)
1:117248617
(GRCh37)
- Canonical SPDI:
- NC_000001.11:116705994:C:A
- Gene:
- LINC02868 (Varview), LOC105378926 (Varview)
- Functional Consequence:
- downstream_transcript_variant,non_coding_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000047/1
(
ALFA)
A=0.000007/1
(GnomAD_exomes)
- HGVS:
20.
rs1390744611 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 1:116706483
(GRCh38)
1:117249105
(GRCh37)
- Canonical SPDI:
- NC_000001.11:116706482:C:G
- Gene:
- LINC02868 (Varview), LOC105378926 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000071/1
(
ALFA)
G=0.000011/3
(TOPMED)
- HGVS: