Links from Gene
Items: 1 to 20 of 6762
1.
rs1491420094 has merged into rs34903480 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,T,TTT,TTTT,TTTTT
[Show Flanks]
- Chromosome:
- 12:113756223
(GRCh38)
12:114194028
(GRCh37)
- Canonical SPDI:
- NC_000012.12:113756209:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:113756209:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:113756209:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:113756209:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:113756209:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT
- Gene:
- LINC01234 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTTT=0./0
(
ALFA)
T=0.25/10
(GENOME_DK)
T=0.4265/2136
(1000Genomes)
- HGVS:
2.
rs1491051309 has merged into rs10622864 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAA>-,AAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 12:113773283
(GRCh38)
12:114211088
(GRCh37)
- Canonical SPDI:
- NC_000012.12:113773272:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000012.12:113773272:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:113773272:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000012.12:113773272:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000012.12:113773272:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000012.12:113773272:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:113773272:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:113773272:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:113773272:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:113773272:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:113773272:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:113773272:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:113773272:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:113773272:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- LINC01234 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAA=0./0
(
ALFA)
A=0.2979/1492
(1000Genomes)
- HGVS:
NC_000012.12:g.113773283_113773293del, NC_000012.12:g.113773288_113773293del, NC_000012.12:g.113773291_113773293del, NC_000012.12:g.113773292_113773293del, NC_000012.12:g.113773293del, NC_000012.12:g.113773293dup, NC_000012.12:g.113773292_113773293dup, NC_000012.12:g.113773291_113773293dup, NC_000012.12:g.113773290_113773293dup, NC_000012.12:g.113773289_113773293dup, NC_000012.12:g.113773288_113773293dup, NC_000012.12:g.113773287_113773293dup, NC_000012.12:g.113773286_113773293dup, NC_000012.12:g.113773278_113773293dup, NC_000012.11:g.114211088_114211098del, NC_000012.11:g.114211093_114211098del, NC_000012.11:g.114211096_114211098del, NC_000012.11:g.114211097_114211098del, NC_000012.11:g.114211098del, NC_000012.11:g.114211098dup, NC_000012.11:g.114211097_114211098dup, NC_000012.11:g.114211096_114211098dup, NC_000012.11:g.114211095_114211098dup, NC_000012.11:g.114211094_114211098dup, NC_000012.11:g.114211093_114211098dup, NC_000012.11:g.114211092_114211098dup, NC_000012.11:g.114211091_114211098dup, NC_000012.11:g.114211083_114211098dup
3.
rs1491014105 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GC
[Show Flanks]
- Chromosome:
- 12:113763357
(GRCh38)
12:114201163
(GRCh37)
- Canonical SPDI:
- NC_000012.12:113763357:GC:GCGC
- Gene:
- LINC01234 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GCGC=0./0
(
ALFA)
GC=0.000007/1
(GnomAD)
GC=0.000011/3
(TOPMED)
- HGVS:
4.
rs1490986799 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:113760713
(GRCh38)
12:114198518
(GRCh37)
- Canonical SPDI:
- NC_000012.12:113760712:G:A
- Gene:
- LINC01234 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
5.
rs1490864240 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 12:113762913
(GRCh38)
12:114200718
(GRCh37)
- Canonical SPDI:
- NC_000012.12:113762912:A:G,NC_000012.12:113762912:A:T
- Gene:
- LINC01234 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
6.
rs1490849449 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:113760521
(GRCh38)
12:114198326
(GRCh37)
- Canonical SPDI:
- NC_000012.12:113760520:G:A
- Gene:
- LINC01234 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
7.
rs1490720132 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:113753422
(GRCh38)
12:114191227
(GRCh37)
- Canonical SPDI:
- NC_000012.12:113753421:G:A
- Gene:
- LINC01234 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000021/3
(GnomAD)
- HGVS:
8.
rs1490619683 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 12:113768394
(GRCh38)
12:114206199
(GRCh37)
- Canonical SPDI:
- NC_000012.12:113768393:A:T
- Gene:
- LINC01234 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
9.
rs1490614692 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 12:113769476
(GRCh38)
12:114207281
(GRCh37)
- Canonical SPDI:
- NC_000012.12:113769475:C:A
- Gene:
- LINC01234 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
10.
rs1490556401 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 12:113753855
(GRCh38)
12:114191660
(GRCh37)
- Canonical SPDI:
- NC_000012.12:113753854:T:C
- Gene:
- LINC01234 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000014/2
(GnomAD)
C=0.00003/8
(TOPMED)
- HGVS:
11.
rs1490530734 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:113752783
(GRCh38)
12:114190588
(GRCh37)
- Canonical SPDI:
- NC_000012.12:113752782:C:T
- Gene:
- LINC01234 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
12.
rs1490383571 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:113761785
(GRCh38)
12:114199590
(GRCh37)
- Canonical SPDI:
- NC_000012.12:113761784:G:A
- Gene:
- LINC01234 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
13.
rs1490222137 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 12:113762262
(GRCh38)
12:114200067
(GRCh37)
- Canonical SPDI:
- NC_000012.12:113762261:T:C
- Gene:
- LINC01234 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
15.
rs1490111502 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 12:113745254
(GRCh38)
12:114183059
(GRCh37)
- Canonical SPDI:
- NC_000012.12:113745253:T:C
- Gene:
- LINC01234 (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:
16.
rs1490104176 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:113774193
(GRCh38)
12:114211998
(GRCh37)
- Canonical SPDI:
- NC_000012.12:113774192:C:T
- Gene:
- LINC01234 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000106/2
(TOMMO)
- HGVS:
17.
rs1490000308 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 12:113746953
(GRCh38)
12:114184758
(GRCh37)
- Canonical SPDI:
- NC_000012.12:113746952:T:C
- Gene:
- LINC01234 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000015/4
(TOPMED)
C=0.000021/3
(GnomAD)
- HGVS:
18.
rs1489776220 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:113745941
(GRCh38)
12:114183746
(GRCh37)
- Canonical SPDI:
- NC_000012.12:113745940:C:T
- Gene:
- LINC01234 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
19.
rs1489686434 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 12:113754189
(GRCh38)
12:114191994
(GRCh37)
- Canonical SPDI:
- NC_000012.12:113754188:GGGGG:GGGG
- Gene:
- LINC01234 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
GGGG=0./0
(
ALFA)
-=0.00022/4
(GnomAD)
- HGVS: