Links from Nucleotide
Items: 1 to 20 of 354
1.
rs1489204464 has merged into rs1265483117 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAA>-,AAA,AAAAA
[Show Flanks]
- Chromosome:
- 14:106494903
(GRCh38)
14:106950917
(GRCh37)
- Canonical SPDI:
- NC_000014.9:106494898:AAAAAAAA:AAAA,NC_000014.9:106494898:AAAAAAAA:AAAAAAA,NC_000014.9:106494898:AAAAAAAA:AAAAAAAAA
- Gene:
- LINC00221 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAA=0./0
(
ALFA)
A=0.00011/2
(TOMMO)
- HGVS:
NC_000014.9:g.106494903_106494906del, NC_000014.9:g.106494906del, NC_000014.9:g.106494906dup, NG_001019.6:g.385443_385446del, NG_001019.6:g.385446del, NG_001019.6:g.385446dup, NT_187600.1:g.986582_986585del, NT_187600.1:g.986585del, NT_187600.1:g.986585dup, NW_004166863.1:g.1158070_1158073del, NW_004166863.1:g.1158073del, NW_004166863.1:g.1158073dup, NC_000014.8:g.106950917_106950920del, NC_000014.8:g.106950920del, NC_000014.8:g.106950920dup, NR_027457.2:n.1140_1143del, NR_027457.2:n.1143del, NR_027457.2:n.1143dup, NR_027457.1:n.1131_1134del, NR_027457.1:n.1134del, NR_027457.1:n.1134dup
2.
rs1488080662 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 14:106488920
(GRCh38)
14:106944927
(GRCh37)
- Canonical SPDI:
- NC_000014.9:106488919:A:C
- Gene:
- LINC00221 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
3.
rs1487285813 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 14:106488794
(GRCh38)
14:106944801
(GRCh37)
- Canonical SPDI:
- NC_000014.9:106488793:A:T
- Gene:
- LINC00221 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
4.
rs1485061675 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 14:106494434
(GRCh38)
14:106950448
(GRCh37)
- Canonical SPDI:
- NC_000014.9:106494433:A:G
- Gene:
- LINC00221 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000015/4
(TOPMED)
- HGVS:
5.
rs1484927218 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 14:106482569
(GRCh38)
14:106938576
(GRCh37)
- Canonical SPDI:
- NC_000014.9:106482568:G:C
- Gene:
- LINC00221 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.01978/323
(
ALFA)
C=0.02578/2268
(GnomAD)
C=0.02639/169
(1000Genomes)
G=0.5/13
(SGDP_PRJ)
- HGVS:
6.
rs1479201418 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 14:106495099
(GRCh38)
14:106951113
(GRCh37)
- Canonical SPDI:
- NC_000014.9:106495098:T:G
- Gene:
- LINC00221 (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:
7.
rs1479118209 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- 14:106482549
(GRCh38)
14:106938556
(GRCh37)
- Canonical SPDI:
- NC_000014.9:106482548:CC:C
- Gene:
- LINC00221 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
CC=0./0
(
ALFA)
-=0.00002/2
(GnomAD)
- HGVS:
8.
rs1478007559 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:106494586
(GRCh38)
14:106950600
(GRCh37)
- Canonical SPDI:
- NC_000014.9:106494585:G:A
- Gene:
- LINC00221 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
9.
rs1475652129 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- A>-
[Show Flanks]
- Chromosome:
- 14:106494997
(GRCh38)
14:106951011
(GRCh37)
- Canonical SPDI:
- NC_000014.9:106494996:A:
- Gene:
- LINC00221 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
10.
rs1473321034 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 14:106482504
(GRCh38)
14:106938511
(GRCh37)
- Canonical SPDI:
- NC_000014.9:106482503:C:G
- Gene:
- LINC00221 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000169/2
(
ALFA)
G=0.000143/15
(GnomAD)
G=0.000312/2
(1000Genomes)
- HGVS:
11.
rs1472993623 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 14:106494711
(GRCh38)
14:106950725
(GRCh37)
- Canonical SPDI:
- NC_000014.9:106494710:C:G,NC_000014.9:106494710:C:T
- Gene:
- LINC00221 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
NC_000014.9:g.106494711C>G, NC_000014.9:g.106494711C>T, NG_001019.6:g.385634G>C, NG_001019.6:g.385634G>A, NT_187600.1:g.986390C>G, NT_187600.1:g.986390C>T, NW_004166863.1:g.1157878C>G, NW_004166863.1:g.1157878C>T, NC_000014.8:g.106950725C>G, NC_000014.8:g.106950725C>T, NR_027457.2:n.948C>G, NR_027457.2:n.948C>T, NR_027457.1:n.939C>G, NR_027457.1:n.939C>T
12.
rs1469125439 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:106495219
(GRCh38)
14:106951233
(GRCh37)
- Canonical SPDI:
- NC_000014.9:106495218:C:T
- Gene:
- LINC00221 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000029/4
(GnomAD)
T=0.000042/11
(TOPMED)
- HGVS:
13.
rs1468135182 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 14:106495180
(GRCh38)
14:106951194
(GRCh37)
- Canonical SPDI:
- NC_000014.9:106495179:A:G
- Gene:
- LINC00221 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
14.
rs1466574645 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 14:106494317
(GRCh38)
14:106950331
(GRCh37)
- Canonical SPDI:
- NC_000014.9:106494316:A:C
- Gene:
- LINC00221 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
15.
rs1466477176 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 14:106495370
(GRCh38)
14:106951384
(GRCh37)
- Canonical SPDI:
- NC_000014.9:106495369:G:T
- Gene:
- LINC00221 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
16.
rs1465130526 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 14:106494884
(GRCh38)
14:106950898
(GRCh37)
- Canonical SPDI:
- NC_000014.9:106494883:A:G
- Gene:
- LINC00221 (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=0.000023/6
(TOPMED)
- HGVS:
17.
rs1460748261 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:106494826
(GRCh38)
14:106950840
(GRCh37)
- Canonical SPDI:
- NC_000014.9:106494825:G:A
- Gene:
- LINC00221 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
18.
rs1460126184 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:106494682
(GRCh38)
14:106950696
(GRCh37)
- Canonical SPDI:
- NC_000014.9:106494681:G:A
- Gene:
- LINC00221 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
- HGVS:
19.
rs1457829567 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:106488873
(GRCh38)
14:106944880
(GRCh37)
- Canonical SPDI:
- NC_000014.9:106488872:C:T
- Gene:
- LINC00221 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000026/7
(TOPMED)
T=0.000029/4
(GnomAD)
- HGVS:
20.
rs1456614189 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:106494285
(GRCh38)
14:106950299
(GRCh37)
- Canonical SPDI:
- NC_000014.9:106494284:G:A
- Gene:
- LINC00221 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000084/1
(
ALFA)
A=0.000021/3
(GnomAD)
A=0.000026/7
(TOPMED)
- HGVS: