Links from Gene
Items: 1 to 20 of 8409
1.
rs1491569255 has merged into rs10567765 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTATTTATTTATTTA>-,TTTA,TTTATTTA,TTTATTTATTTA,TTTATTTATTTATTTATTTA,TTTATTTATTTATTTATTTATTTA,TTTATTTATTTATTTATTTATTTATTTA,TTTATTTATTTATTTATTTATTTATTTATTTA,TTTATTTATTTATTTATTTATTTATTTATTTATTTA
[Show Flanks]
- Chromosome:
- 5:37845759
(GRCh38)
5:37845861
(GRCh37)
- Canonical SPDI:
- NC_000005.10:37845742:TTTATTTATTTATTTATTTATTTATTTATTTA:TTTATTTATTTATTTA,NC_000005.10:37845742:TTTATTTATTTATTTATTTATTTATTTATTTA:TTTATTTATTTATTTATTTA,NC_000005.10:37845742:TTTATTTATTTATTTATTTATTTATTTATTTA:TTTATTTATTTATTTATTTATTTA,NC_000005.10:37845742:TTTATTTATTTATTTATTTATTTATTTATTTA:TTTATTTATTTATTTATTTATTTATTTA,NC_000005.10:37845742:TTTATTTATTTATTTATTTATTTATTTATTTA:TTTATTTATTTATTTATTTATTTATTTATTTATTTA,NC_000005.10:37845742:TTTATTTATTTATTTATTTATTTATTTATTTA:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTA,NC_000005.10:37845742:TTTATTTATTTATTTATTTATTTATTTATTTA:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTA,NC_000005.10:37845742:TTTATTTATTTATTTATTTATTTATTTATTTA:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTA,NC_000005.10:37845742:TTTATTTATTTATTTATTTATTTATTTATTTA:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTA
- Gene:
- GDNF-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTATTTATTTATTTATTTA=0./0
(
ALFA)
-=0.13758/689
(1000Genomes)
- HGVS:
NC_000005.10:g.37845743TTTA[4], NC_000005.10:g.37845743TTTA[5], NC_000005.10:g.37845743TTTA[6], NC_000005.10:g.37845743TTTA[7], NC_000005.10:g.37845743TTTA[9], NC_000005.10:g.37845743TTTA[10], NC_000005.10:g.37845743TTTA[11], NC_000005.10:g.37845743TTTA[12], NC_000005.10:g.37845743TTTA[13], NC_000005.9:g.37845845TTTA[4], NC_000005.9:g.37845845TTTA[5], NC_000005.9:g.37845845TTTA[6], NC_000005.9:g.37845845TTTA[7], NC_000005.9:g.37845845TTTA[9], NC_000005.9:g.37845845TTTA[10], NC_000005.9:g.37845845TTTA[11], NC_000005.9:g.37845845TTTA[12], NC_000005.9:g.37845845TTTA[13]
2.
rs1491255612 has merged into rs59909219 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAA>-,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 5:37843102
(GRCh38)
5:37843204
(GRCh37)
- Canonical SPDI:
- NC_000005.10:37843090:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:37843090:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:37843090:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:37843090:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:37843090:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:37843090:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:37843090:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000005.10:37843090:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:37843090:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:37843090:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:37843090:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:37843090:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- GDNF-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAAA=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.11861/594
(1000Genomes)
- HGVS:
NC_000005.10:g.37843102_37843110del, NC_000005.10:g.37843106_37843110del, NC_000005.10:g.37843107_37843110del, NC_000005.10:g.37843108_37843110del, NC_000005.10:g.37843109_37843110del, NC_000005.10:g.37843110del, NC_000005.10:g.37843110dup, NC_000005.10:g.37843109_37843110dup, NC_000005.10:g.37843108_37843110dup, NC_000005.10:g.37843107_37843110dup, NC_000005.10:g.37843106_37843110dup, NC_000005.10:g.37843104_37843110dup, NC_000005.9:g.37843204_37843212del, NC_000005.9:g.37843208_37843212del, NC_000005.9:g.37843209_37843212del, NC_000005.9:g.37843210_37843212del, NC_000005.9:g.37843211_37843212del, NC_000005.9:g.37843212del, NC_000005.9:g.37843212dup, NC_000005.9:g.37843211_37843212dup, NC_000005.9:g.37843210_37843212dup, NC_000005.9:g.37843209_37843212dup, NC_000005.9:g.37843208_37843212dup, NC_000005.9:g.37843206_37843212dup, NG_011675.2:g.1582_1590del, NG_011675.2:g.1586_1590del, NG_011675.2:g.1587_1590del, NG_011675.2:g.1588_1590del, NG_011675.2:g.1589_1590del, NG_011675.2:g.1590del, NG_011675.2:g.1590dup, NG_011675.2:g.1589_1590dup, NG_011675.2:g.1588_1590dup, NG_011675.2:g.1587_1590dup, NG_011675.2:g.1586_1590dup, NG_011675.2:g.1584_1590dup
3.
rs1491239407 has merged into rs143688572 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTGTGT>-,GT,GTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT
[Show Flanks]
- Chromosome:
- 5:37845277
(GRCh38)
5:37845379
(GRCh37)
- Canonical SPDI:
- NC_000005.10:37845263:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGT,NC_000005.10:37845263:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000005.10:37845263:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000005.10:37845263:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000005.10:37845263:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:37845263:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:37845263:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:37845263:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT
- Gene:
- GDNF-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGTGTGTGTGTGT=0./0
(
ALFA)
TG=0.07668/384
(1000Genomes)
- HGVS:
NC_000005.10:g.37845265GT[6], NC_000005.10:g.37845265GT[7], NC_000005.10:g.37845265GT[8], NC_000005.10:g.37845265GT[10], NC_000005.10:g.37845265GT[11], NC_000005.10:g.37845265GT[12], NC_000005.10:g.37845265GT[13], NC_000005.10:g.37845265GT[14], NC_000005.9:g.37845367GT[6], NC_000005.9:g.37845367GT[7], NC_000005.9:g.37845367GT[8], NC_000005.9:g.37845367GT[10], NC_000005.9:g.37845367GT[11], NC_000005.9:g.37845367GT[12], NC_000005.9:g.37845367GT[13], NC_000005.9:g.37845367GT[14]
4.
rs1491235831 has merged into rs35547556 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,A,AAA,AAAA
[Show Flanks]
- Chromosome:
- 5:37853772
(GRCh38)
5:37853874
(GRCh37)
- Canonical SPDI:
- NC_000005.10:37853763:AAAAAAAAAA:AAAAAAAA,NC_000005.10:37853763:AAAAAAAAAA:AAAAAAAAA,NC_000005.10:37853763:AAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:37853763:AAAAAAAAAA:AAAAAAAAAAAA
- Gene:
- GDNF-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAA=0./0
(
ALFA)
-=0.038741/165
(1000Genomes)
A=0.045306/83
(Korea1K)
A=0.07343/283
(ALSPAC)
A=0.078479/291
(TWINSUK)
A=0.08/48
(NorthernSweden)
A=0.108259/485
(Estonian)
A=0.125/5
(GENOME_DK)
A=0.126514/33487
(TOPMED)
- HGVS:
5.
rs1491235682 has merged into rs59909219 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAA>-,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 5:37843102
(GRCh38)
5:37843204
(GRCh37)
- Canonical SPDI:
- NC_000005.10:37843090:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:37843090:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:37843090:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:37843090:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:37843090:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:37843090:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:37843090:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000005.10:37843090:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:37843090:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:37843090:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:37843090:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:37843090:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- GDNF-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAAA=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.11861/594
(1000Genomes)
- HGVS:
NC_000005.10:g.37843102_37843110del, NC_000005.10:g.37843106_37843110del, NC_000005.10:g.37843107_37843110del, NC_000005.10:g.37843108_37843110del, NC_000005.10:g.37843109_37843110del, NC_000005.10:g.37843110del, NC_000005.10:g.37843110dup, NC_000005.10:g.37843109_37843110dup, NC_000005.10:g.37843108_37843110dup, NC_000005.10:g.37843107_37843110dup, NC_000005.10:g.37843106_37843110dup, NC_000005.10:g.37843104_37843110dup, NC_000005.9:g.37843204_37843212del, NC_000005.9:g.37843208_37843212del, NC_000005.9:g.37843209_37843212del, NC_000005.9:g.37843210_37843212del, NC_000005.9:g.37843211_37843212del, NC_000005.9:g.37843212del, NC_000005.9:g.37843212dup, NC_000005.9:g.37843211_37843212dup, NC_000005.9:g.37843210_37843212dup, NC_000005.9:g.37843209_37843212dup, NC_000005.9:g.37843208_37843212dup, NC_000005.9:g.37843206_37843212dup, NG_011675.2:g.1582_1590del, NG_011675.2:g.1586_1590del, NG_011675.2:g.1587_1590del, NG_011675.2:g.1588_1590del, NG_011675.2:g.1589_1590del, NG_011675.2:g.1590del, NG_011675.2:g.1590dup, NG_011675.2:g.1589_1590dup, NG_011675.2:g.1588_1590dup, NG_011675.2:g.1587_1590dup, NG_011675.2:g.1586_1590dup, NG_011675.2:g.1584_1590dup
6.
rs1491182191 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 5:37843091
(GRCh38)
5:37843194
(GRCh37)
- Canonical SPDI:
- NC_000005.10:37843091::G
- Gene:
- GDNF-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
7.
rs1491178194 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GTAT,GTATAT
[Show Flanks]
- Chromosome:
- 5:37874356
(GRCh38)
5:37874459
(GRCh37)
- Canonical SPDI:
- NC_000005.10:37874356:T:TGTAT,NC_000005.10:37874356:T:TGTATAT
- Gene:
- GDNF-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TGTATAT=0./0
(
ALFA)
TGTATA=0.000009/1
(GnomAD)
- HGVS:
8.
rs1491081849 has merged into rs58350618 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,AAAA
[Show Flanks]
- Chromosome:
- 5:37857893
(GRCh38)
5:37857995
(GRCh37)
- Canonical SPDI:
- NC_000005.10:37857891:AAA:A,NC_000005.10:37857891:AAA:AAAAA
- Gene:
- GDNF-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAA=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
9.
rs1491042602 has merged into rs58980044 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTGT>-,GT,GTGTGT
[Show Flanks]
- Chromosome:
- 5:37874354
(GRCh38)
5:37874456
(GRCh37)
- Canonical SPDI:
- NC_000005.10:37874339:GTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGT,NC_000005.10:37874339:GTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGT,NC_000005.10:37874339:GTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGT
- Gene:
- GDNF-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GTGTGTGTGTGTGTGT=0./0
(
ALFA)
-=0.25/10
(GENOME_DK)
-=0.2571/127
(NorthernSweden)
- HGVS:
10.
rs1490896065 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 5:37858381
(GRCh38)
5:37858483
(GRCh37)
- Canonical SPDI:
- NC_000005.10:37858380:C:T
- Gene:
- GDNF-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000019/5
(TOPMED)
- HGVS:
11.
rs1490879854 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 5:37872748
(GRCh38)
5:37872850
(GRCh37)
- Canonical SPDI:
- NC_000005.10:37872747:G:A
- Gene:
- GDNF-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
13.
rs1490692819 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- A>-
[Show Flanks]
- Chromosome:
- 5:37845347
(GRCh38)
5:37845449
(GRCh37)
- Canonical SPDI:
- NC_000005.10:37845346:A:
- Gene:
- GDNF-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000014/2
(GnomAD)
- HGVS:
14.
rs1490621360 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 5:37846276
(GRCh38)
5:37846378
(GRCh37)
- Canonical SPDI:
- NC_000005.10:37846275:A:G
- Gene:
- GDNF-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
15.
rs1490530303 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AGGGTATTATAAGGTTA>-
[Show Flanks]
- Chromosome:
- 5:37844021
(GRCh38)
5:37844123
(GRCh37)
- Canonical SPDI:
- NC_000005.10:37844020:AGGGTATTATAAGGTTA:
- Gene:
- GDNF-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
-=0.000007/1
(GnomAD)
- HGVS:
16.
rs1490511455 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 5:37865048
(GRCh38)
5:37865150
(GRCh37)
- Canonical SPDI:
- NC_000005.10:37865047:T:C
- Gene:
- GDNF-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
17.
rs1490485200 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 5:37862920
(GRCh38)
5:37863022
(GRCh37)
- Canonical SPDI:
- NC_000005.10:37862919:G:A
- Gene:
- GDNF-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
18.
rs1490295427 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 5:37848650
(GRCh38)
5:37848752
(GRCh37)
- Canonical SPDI:
- NC_000005.10:37848649:A:G
- Gene:
- GDNF-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
19.
rs1490211413 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 5:37851333
(GRCh38)
5:37851435
(GRCh37)
- Canonical SPDI:
- NC_000005.10:37851332:A:T
- Gene:
- GDNF-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000021/3
(GnomAD)
- HGVS:
20.
rs1490195645 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 5:37850085
(GRCh38)
5:37850188
(GRCh37)
- Canonical SPDI:
- NC_000005.10:37850085:C:CC
- Gene:
- GDNF-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CC=0./0
(
ALFA)
C=0.000014/2
(GnomAD)
C=0.000023/6
(TOPMED)
- HGVS: