Links from Nucleotide
Items: 1 to 20 of 129
1.
rs1489794141 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 20:12950491
(GRCh38)
20:12931139
(GRCh37)
- Canonical SPDI:
- NC_000020.11:12950490:G:A
- Gene:
- LINC01723 (Varview), LINC01722 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
2.
rs1488805203 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 20:12950749
(GRCh38)
20:12931397
(GRCh37)
- Canonical SPDI:
- NC_000020.11:12950748:C:T
- Gene:
- LINC01723 (Varview), LINC01722 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
3.
rs1487716125 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 20:12950757
(GRCh38)
20:12931405
(GRCh37)
- Canonical SPDI:
- NC_000020.11:12950756:C:G,NC_000020.11:12950756:C:T
- Gene:
- LINC01723 (Varview), LINC01722 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000021/3
(GnomAD)
- HGVS:
5.
rs1470051595 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 20:12950349
(GRCh38)
20:12930997
(GRCh37)
- Canonical SPDI:
- NC_000020.11:12950348:A:C
- Gene:
- LINC01723 (Varview), LINC01722 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000019/5
(TOPMED)
- HGVS:
6.
rs1465170109 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 20:12950589
(GRCh38)
20:12931237
(GRCh37)
- Canonical SPDI:
- NC_000020.11:12950588:C:T
- Gene:
- LINC01723 (Varview), LINC01722 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000094/1
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
7.
rs1457911483 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 20:12951522
(GRCh38)
20:12932170
(GRCh37)
- Canonical SPDI:
- NC_000020.11:12951519:ATAT:AT
- Gene:
- LINC01723 (Varview), LINC01722 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATAT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
8.
rs1447168051 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 20:12950430
(GRCh38)
20:12931078
(GRCh37)
- Canonical SPDI:
- NC_000020.11:12950429:A:G
- Gene:
- LINC01723 (Varview), LINC01722 (Varview)
- Functional Consequence:
- 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:
9.
rs1440631938 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- 20:12950463
(GRCh38)
20:12931111
(GRCh37)
- Canonical SPDI:
- NC_000020.11:12950462:CC:C
- Gene:
- LINC01723 (Varview), LINC01722 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CC=0.000071/1
(
ALFA)
-=0.000021/3
(GnomAD)
-=0.000026/7
(TOPMED)
- HGVS:
10.
rs1440467532 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 20:12951575
(GRCh38)
20:12932223
(GRCh37)
- Canonical SPDI:
- NC_000020.11:12951574:A:T
- Gene:
- LINC01723 (Varview), LINC01722 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000021/3
(GnomAD)
T=0.000023/6
(TOPMED)
- HGVS:
12.
rs1435293431 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 20:12950348
(GRCh38)
20:12930996
(GRCh37)
- Canonical SPDI:
- NC_000020.11:12950347:CA:
- Gene:
- LINC01723 (Varview), LINC01722 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency
- MAF:
-=0.000021/3
(GnomAD)
- HGVS:
13.
rs1426341875 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 20:12950702
(GRCh38)
20:12931350
(GRCh37)
- Canonical SPDI:
- NC_000020.11:12950701:G:T
- Gene:
- LINC01723 (Varview), LINC01722 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000015/4
(TOPMED)
- HGVS:
14.
rs1424351916 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 20:12950585
(GRCh38)
20:12931233
(GRCh37)
- Canonical SPDI:
- NC_000020.11:12950584:G:A
- Gene:
- LINC01723 (Varview), LINC01722 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency
- MAF:
A=0.000007/1
(GnomAD)
- HGVS:
15.
rs1419875225 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 20:12951523
(GRCh38)
20:12932171
(GRCh37)
- Canonical SPDI:
- NC_000020.11:12951522:T:C
- Gene:
- LINC01723 (Varview), LINC01722 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
17.
rs1413602690 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 20:12951458
(GRCh38)
20:12932106
(GRCh37)
- Canonical SPDI:
- NC_000020.11:12951457:C:T
- Gene:
- LINC01723 (Varview), LINC01722 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
19.
rs1401349438 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 20:12951453
(GRCh38)
20:12932101
(GRCh37)
- Canonical SPDI:
- NC_000020.11:12951452:A:G
- Gene:
- LINC01723 (Varview), LINC01722 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000011/3
(TOPMED)
- HGVS:
20.
rs1401163683 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G
[Show Flanks]
- Chromosome:
- 20:12950388
(GRCh38)
20:12931036
(GRCh37)
- Canonical SPDI:
- NC_000020.11:12950387:C:A,NC_000020.11:12950387:C:G
- Gene:
- LINC01723 (Varview), LINC01722 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS: