Links from Gene
Items: 1 to 20 of 969
1.
rs1491369809 has merged into rs199750488 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 6:87399198
(GRCh38)
6:88108916
(GRCh37)
- Canonical SPDI:
- NC_000006.12:87399185:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:87399185:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:87399185:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:87399185:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:87399185:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:87399185:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:87399185:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:87399185:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000006.12:87399185:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000006.12:87399185:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:87399185:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- LINC01590 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAA=0./0
(
ALFA)
AA=0.2927/1466
(1000Genomes)
- HGVS:
NC_000006.12:g.87399198_87399205del, NC_000006.12:g.87399199_87399205del, NC_000006.12:g.87399200_87399205del, NC_000006.12:g.87399201_87399205del, NC_000006.12:g.87399202_87399205del, NC_000006.12:g.87399203_87399205del, NC_000006.12:g.87399204_87399205del, NC_000006.12:g.87399205del, NC_000006.12:g.87399205dup, NC_000006.12:g.87399204_87399205dup, NC_000006.12:g.87399203_87399205dup, NC_000006.11:g.88108916_88108923del, NC_000006.11:g.88108917_88108923del, NC_000006.11:g.88108918_88108923del, NC_000006.11:g.88108919_88108923del, NC_000006.11:g.88108920_88108923del, NC_000006.11:g.88108921_88108923del, NC_000006.11:g.88108922_88108923del, NC_000006.11:g.88108923del, NC_000006.11:g.88108923dup, NC_000006.11:g.88108922_88108923dup, NC_000006.11:g.88108921_88108923dup
3.
rs1487953872 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 6:87397525
(GRCh38)
6:88107243
(GRCh37)
- Canonical SPDI:
- NC_000006.12:87397524:T:C
- Gene:
- LINC01590 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000021/3
(GnomAD)
- HGVS:
4.
rs1487915219 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 6:87395897
(GRCh38)
6:88105615
(GRCh37)
- Canonical SPDI:
- NC_000006.12:87395896:C:T
- Gene:
- LINC01590 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000021/3
(GnomAD)
- HGVS:
5.
rs1487466011 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 6:87396124
(GRCh38)
6:88105842
(GRCh37)
- Canonical SPDI:
- NC_000006.12:87396123:T:G
- Gene:
- LINC01590 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
6.
rs1486945722 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 6:87396232
(GRCh38)
6:88105950
(GRCh37)
- Canonical SPDI:
- NC_000006.12:87396231:A:C
- Gene:
- LINC01590 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
7.
rs1485630226 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 6:87399603
(GRCh38)
6:88109321
(GRCh37)
- Canonical SPDI:
- NC_000006.12:87399602:G:T
- Gene:
- LINC01590 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency
- MAF:
T=0.000007/1
(GnomAD)
- HGVS:
8.
rs1485514438 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 6:87398851
(GRCh38)
6:88108569
(GRCh37)
- Canonical SPDI:
- NC_000006.12:87398850:G:A
- Gene:
- LINC01590 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000084/1
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
9.
rs1485402886 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 6:87399936
(GRCh38)
6:88109654
(GRCh37)
- Canonical SPDI:
- NC_000006.12:87399935:G:A
- Gene:
- LINC01590 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
10.
rs1484986437 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 6:87395184
(GRCh38)
6:88104902
(GRCh37)
- Canonical SPDI:
- NC_000006.12:87395183:G:C
- Gene:
- LINC01590 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.000071/1
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
11.
rs1483910654 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 6:87397935
(GRCh38)
6:88107653
(GRCh37)
- Canonical SPDI:
- NC_000006.12:87397934:A:G
- Gene:
- LINC01590 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000019/5
(TOPMED)
- HGVS:
12.
rs1483756238 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 6:87399290
(GRCh38)
6:88109008
(GRCh37)
- Canonical SPDI:
- NC_000006.12:87399289:GGG:GG
- Gene:
- LINC01590 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
GG=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
- HGVS:
13.
rs1482287331 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 6:87398247
(GRCh38)
6:88107965
(GRCh37)
- Canonical SPDI:
- NC_000006.12:87398246:C:A
- Gene:
- LINC01590 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD_exomes)
- HGVS:
14.
rs1481599358 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 6:87396519
(GRCh38)
6:88106237
(GRCh37)
- Canonical SPDI:
- NC_000006.12:87396518:A:C
- Gene:
- LINC01590 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
15.
rs1480539916 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 6:87397024
(GRCh38)
6:88106742
(GRCh37)
- Canonical SPDI:
- NC_000006.12:87397023:A:C,NC_000006.12:87397023:A:G
- Gene:
- LINC01590 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000054/1
(
ALFA)
C=0.000004/1
(TOPMED)
G=0.000223/1
(Estonian)
- HGVS:
16.
rs1479648063 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 6:87395435
(GRCh38)
6:88105153
(GRCh37)
- Canonical SPDI:
- NC_000006.12:87395434:T:A,NC_000006.12:87395434:T:C
- Gene:
- LINC01590 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
18.
rs1478859177 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CTGACGAGAAATTCAGGTG
[Show Flanks]
- Chromosome:
- 6:87398358
(GRCh38)
6:88108077
(GRCh37)
- Canonical SPDI:
- NC_000006.12:87398358:GTGCTGACGAGAAATTCAGGTG:GTGCTGACGAGAAATTCAGGTGCTGACGAGAAATTCAGGTG
- Gene:
- LINC01590 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,splice_donor_variant,intron_variant
- Validated:
- by frequency
- MAF:
GTGCTGACGAGAAATTCAG=0.000007/1
(GnomAD_exomes)
- HGVS:
19.
rs1477568320 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 6:87396921
(GRCh38)
6:88106639
(GRCh37)
- Canonical SPDI:
- NC_000006.12:87396920:C:T
- Gene:
- LINC01590 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
20.
rs1477459170 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 6:87395616
(GRCh38)
6:88105334
(GRCh37)
- Canonical SPDI:
- NC_000006.12:87395615:A:G
- Gene:
- LINC01590 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS: