Links from Gene
Items: 1 to 20 of 5010
2.
rs1491478419 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->CCCA,CCCCA,CCCCCA,CCCCCCA,CCCCCCCA
[Show Flanks]
- Chromosome:
- 12:98502840
(GRCh38)
12:98896619
(GRCh37)
- Canonical SPDI:
- NC_000012.12:98502840::CCCA,NC_000012.12:98502840::CCCCA,NC_000012.12:98502840::CCCCCA,NC_000012.12:98502840::CCCCCCA,NC_000012.12:98502840::CCCCCCCA
- Gene:
- LINC02453 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
3.
rs1491448990 has merged into rs1555200576 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ACACACAC>-,ACAC,ACACAC,ACACACACAC,ACACACACACAC
[Show Flanks]
- Chromosome:
- 12:98502849
(GRCh38)
12:98896627
(GRCh37)
- Canonical SPDI:
- NC_000012.12:98502839:CACACACACACACACAC:CACACACAC,NC_000012.12:98502839:CACACACACACACACAC:CACACACACACAC,NC_000012.12:98502839:CACACACACACACACAC:CACACACACACACAC,NC_000012.12:98502839:CACACACACACACACAC:CACACACACACACACACAC,NC_000012.12:98502839:CACACACACACACACAC:CACACACACACACACACACAC
- Gene:
- LINC02453 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CACACACACACACACACAC=0./0
(
ALFA)
CA=0.00201/20
(TOMMO)
CA=0.0076/13
(Korea1K)
- HGVS:
4.
rs1491441586 has merged into rs34178925 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAA>-,A,AA,AAA,AAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 12:98486791
(GRCh38)
12:98880569
(GRCh37)
- Canonical SPDI:
- NC_000012.12:98486779:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000012.12:98486779:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:98486779:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:98486779:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:98486779:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:98486779:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000012.12:98486779:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000012.12:98486779:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:98486779:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:98486779:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:98486779:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:98486779:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:98486779:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:98486779:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:98486779:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:98486779:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:98486779:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:98486779:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:98486779:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:98486779:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- LINC02453 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAA=0./0
(
ALFA)
AAAAAAA=0.075/3
(GENOME_DK)
- HGVS:
NC_000012.12:g.98486791_98486802del, NC_000012.12:g.98486792_98486802del, NC_000012.12:g.98486793_98486802del, NC_000012.12:g.98486794_98486802del, NC_000012.12:g.98486796_98486802del, NC_000012.12:g.98486800_98486802del, NC_000012.12:g.98486801_98486802del, NC_000012.12:g.98486802del, NC_000012.12:g.98486802dup, NC_000012.12:g.98486801_98486802dup, NC_000012.12:g.98486800_98486802dup, NC_000012.12:g.98486799_98486802dup, NC_000012.12:g.98486797_98486802dup, NC_000012.12:g.98486796_98486802dup, NC_000012.12:g.98486795_98486802dup, NC_000012.12:g.98486791_98486802dup, NC_000012.12:g.98486790_98486802dup, NC_000012.12:g.98486789_98486802dup, NC_000012.12:g.98486782_98486802dup, NC_000012.12:g.98486802_98486803insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.98880569_98880580del, NC_000012.11:g.98880570_98880580del, NC_000012.11:g.98880571_98880580del, NC_000012.11:g.98880572_98880580del, NC_000012.11:g.98880574_98880580del, NC_000012.11:g.98880578_98880580del, NC_000012.11:g.98880579_98880580del, NC_000012.11:g.98880580del, NC_000012.11:g.98880580dup, NC_000012.11:g.98880579_98880580dup, NC_000012.11:g.98880578_98880580dup, NC_000012.11:g.98880577_98880580dup, NC_000012.11:g.98880575_98880580dup, NC_000012.11:g.98880574_98880580dup, NC_000012.11:g.98880573_98880580dup, NC_000012.11:g.98880569_98880580dup, NC_000012.11:g.98880568_98880580dup, NC_000012.11:g.98880567_98880580dup, NC_000012.11:g.98880560_98880580dup, NC_000012.11:g.98880580_98880581insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NR_038383.1:n.578_589del, NR_038383.1:n.579_589del, NR_038383.1:n.580_589del, NR_038383.1:n.581_589del, NR_038383.1:n.583_589del, NR_038383.1:n.587_589del, NR_038383.1:n.588_589del, NR_038383.1:n.589del, NR_038383.1:n.589dup, NR_038383.1:n.588_589dup, NR_038383.1:n.587_589dup, NR_038383.1:n.586_589dup, NR_038383.1:n.584_589dup, NR_038383.1:n.583_589dup, NR_038383.1:n.582_589dup, NR_038383.1:n.578_589dup, NR_038383.1:n.577_589dup, NR_038383.1:n.576_589dup, NR_038383.1:n.569_589dup, NR_038383.1:n.589_590insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
5.
rs1491155319 has merged into rs10558962 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 12:98487986
(GRCh38)
12:98881764
(GRCh37)
- Canonical SPDI:
- NC_000012.12:98487973:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:98487973:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:98487973:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:98487973:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:98487973:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:98487973:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000012.12:98487973:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:98487973:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- LINC02453 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAA=0./0
(
ALFA)
- HGVS:
NC_000012.12:g.98487986_98487990del, NC_000012.12:g.98487987_98487990del, NC_000012.12:g.98487988_98487990del, NC_000012.12:g.98487989_98487990del, NC_000012.12:g.98487990del, NC_000012.12:g.98487990dup, NC_000012.12:g.98487984_98487990dup, NC_000012.12:g.98487982_98487990dup, NC_000012.11:g.98881764_98881768del, NC_000012.11:g.98881765_98881768del, NC_000012.11:g.98881766_98881768del, NC_000012.11:g.98881767_98881768del, NC_000012.11:g.98881768del, NC_000012.11:g.98881768dup, NC_000012.11:g.98881762_98881768dup, NC_000012.11:g.98881760_98881768dup
6.
rs1491090979 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 12:98486779
(GRCh38)
12:98880557
(GRCh37)
- Canonical SPDI:
- NC_000012.12:98486778:CA:
- Gene:
- LINC02453 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.00118/14
(
ALFA)
-=0.00138/39
(TOMMO)
- HGVS:
7.
rs1491045564 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CTT
[Show Flanks]
- Chromosome:
- 12:98491686
(GRCh38)
12:98885465
(GRCh37)
- Canonical SPDI:
- NC_000012.12:98491686:TT:TTCTT
- Gene:
- LINC02453 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TTCTT=0./0
(
ALFA)
TTC=0.0001/3
(GnomAD)
- HGVS:
8.
rs1490960792 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 12:98500878
(GRCh38)
12:98894656
(GRCh37)
- Canonical SPDI:
- NC_000012.12:98500877:A:G
- Gene:
- LINC02453 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
10.
rs1490776315 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CCTG
[Show Flanks]
- Chromosome:
- 12:98491896
(GRCh38)
12:98885675
(GRCh37)
- Canonical SPDI:
- NC_000012.12:98491896:GCCTG:GCCTGCCTG
- Gene:
- LINC02453 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GCCTGCCTG=0./0
(
ALFA)
GCCT=0.000011/3
(TOPMED)
GCCT=0.000021/3
(GnomAD)
- HGVS:
11.
rs1490645492 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 12:98492391
(GRCh38)
12:98886169
(GRCh37)
- Canonical SPDI:
- NC_000012.12:98492390:A:C
- Gene:
- LINC02453 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
12.
rs1490462284 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 12:98495266
(GRCh38)
12:98889044
(GRCh37)
- Canonical SPDI:
- NC_000012.12:98495265:G:
- Gene:
- LINC02453 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000014/2
(GnomAD)
-=0.000015/4
(TOPMED)
- HGVS:
13.
rs1490422564 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 12:98505583
(GRCh38)
12:98899361
(GRCh37)
- Canonical SPDI:
- NC_000012.12:98505582:G:C
- Gene:
- LINC02453 (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=0.000011/3
(TOPMED)
- HGVS:
14.
rs1490132871 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 12:98497309
(GRCh38)
12:98891087
(GRCh37)
- Canonical SPDI:
- NC_000012.12:98497306:CTCT:CT
- Gene:
- LINC02453 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CTCT=0./0
(
ALFA)
-=0.000021/3
(GnomAD)
-=0.000026/7
(TOPMED)
- HGVS:
15.
rs1490030818 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:98498235
(GRCh38)
12:98892013
(GRCh37)
- Canonical SPDI:
- NC_000012.12:98498234:C:T
- Gene:
- LINC02453 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
16.
rs1489971163 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 12:98496323
(GRCh38)
12:98890101
(GRCh37)
- Canonical SPDI:
- NC_000012.12:98496322:A:G
- Gene:
- LINC02453 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000014/2
(GnomAD)
- HGVS:
17.
rs1489919571 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 12:98498829
(GRCh38)
12:98892607
(GRCh37)
- Canonical SPDI:
- NC_000012.12:98498828:T:C
- Gene:
- LINC02453 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
18.
rs1489845157 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 12:98503914
(GRCh38)
12:98897692
(GRCh37)
- Canonical SPDI:
- NC_000012.12:98503913:G:A,NC_000012.12:98503913:G:C
- Gene:
- LINC02453 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
19.
rs1489811829 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 12:98490092
(GRCh38)
12:98883871
(GRCh37)
- Canonical SPDI:
- NC_000012.12:98490092:TTTTTT:TTTTTTT
- Gene:
- LINC02453 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTT=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000026/7
(TOPMED)
T=0.000312/2
(1000Genomes)
- HGVS:
20.
rs1489796133 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 12:98491213
(GRCh38)
12:98884991
(GRCh37)
- Canonical SPDI:
- NC_000012.12:98491212:A:G
- Gene:
- LINC02453 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS: