Links from Gene
Items: 1 to 20 of 1003
1.
rs1491384794 has merged into rs57125728 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 5:4772504
(GRCh38)
5:4772617
(GRCh37)
- Canonical SPDI:
- NC_000005.10:4772492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:4772492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:4772492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:4772492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:4772492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:4772492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:4772492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:4772492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:4772492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:4772492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000005.10:4772492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:4772492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:4772492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:4772492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:4772492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:4772492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:4772492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:4772492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:4772492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:4772492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:4772492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:4772492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:4772492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:4772492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- LINC02114 (Varview), LOC107986400 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAA=0./0
(
ALFA)
- HGVS:
NC_000005.10:g.4772504_4772512del, NC_000005.10:g.4772505_4772512del, NC_000005.10:g.4772506_4772512del, NC_000005.10:g.4772507_4772512del, NC_000005.10:g.4772508_4772512del, NC_000005.10:g.4772509_4772512del, NC_000005.10:g.4772510_4772512del, NC_000005.10:g.4772511_4772512del, NC_000005.10:g.4772512del, NC_000005.10:g.4772512dup, NC_000005.10:g.4772511_4772512dup, NC_000005.10:g.4772510_4772512dup, NC_000005.10:g.4772509_4772512dup, NC_000005.10:g.4772508_4772512dup, NC_000005.10:g.4772507_4772512dup, NC_000005.10:g.4772506_4772512dup, NC_000005.10:g.4772505_4772512dup, NC_000005.10:g.4772504_4772512dup, NC_000005.10:g.4772503_4772512dup, NC_000005.10:g.4772502_4772512dup, NC_000005.10:g.4772501_4772512dup, NC_000005.10:g.4772500_4772512dup, NC_000005.10:g.4772499_4772512dup, NC_000005.10:g.4772512_4772513insAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.4772617_4772625del, NC_000005.9:g.4772618_4772625del, NC_000005.9:g.4772619_4772625del, NC_000005.9:g.4772620_4772625del, NC_000005.9:g.4772621_4772625del, NC_000005.9:g.4772622_4772625del, NC_000005.9:g.4772623_4772625del, NC_000005.9:g.4772624_4772625del, NC_000005.9:g.4772625del, NC_000005.9:g.4772625dup, NC_000005.9:g.4772624_4772625dup, NC_000005.9:g.4772623_4772625dup, NC_000005.9:g.4772622_4772625dup, NC_000005.9:g.4772621_4772625dup, NC_000005.9:g.4772620_4772625dup, NC_000005.9:g.4772619_4772625dup, NC_000005.9:g.4772618_4772625dup, NC_000005.9:g.4772617_4772625dup, NC_000005.9:g.4772616_4772625dup, NC_000005.9:g.4772615_4772625dup, NC_000005.9:g.4772614_4772625dup, NC_000005.9:g.4772613_4772625dup, NC_000005.9:g.4772612_4772625dup, NC_000005.9:g.4772625_4772626insAAAAAAAAAAAAAAAAAAAAAAA
3.
rs1491215610 has merged into rs57125728 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 5:4772504
(GRCh38)
5:4772617
(GRCh37)
- Canonical SPDI:
- NC_000005.10:4772492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:4772492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:4772492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:4772492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:4772492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:4772492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:4772492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:4772492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:4772492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:4772492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000005.10:4772492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:4772492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:4772492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:4772492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:4772492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:4772492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:4772492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:4772492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:4772492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:4772492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:4772492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:4772492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:4772492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:4772492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- LINC02114 (Varview), LOC107986400 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAA=0./0
(
ALFA)
- HGVS:
NC_000005.10:g.4772504_4772512del, NC_000005.10:g.4772505_4772512del, NC_000005.10:g.4772506_4772512del, NC_000005.10:g.4772507_4772512del, NC_000005.10:g.4772508_4772512del, NC_000005.10:g.4772509_4772512del, NC_000005.10:g.4772510_4772512del, NC_000005.10:g.4772511_4772512del, NC_000005.10:g.4772512del, NC_000005.10:g.4772512dup, NC_000005.10:g.4772511_4772512dup, NC_000005.10:g.4772510_4772512dup, NC_000005.10:g.4772509_4772512dup, NC_000005.10:g.4772508_4772512dup, NC_000005.10:g.4772507_4772512dup, NC_000005.10:g.4772506_4772512dup, NC_000005.10:g.4772505_4772512dup, NC_000005.10:g.4772504_4772512dup, NC_000005.10:g.4772503_4772512dup, NC_000005.10:g.4772502_4772512dup, NC_000005.10:g.4772501_4772512dup, NC_000005.10:g.4772500_4772512dup, NC_000005.10:g.4772499_4772512dup, NC_000005.10:g.4772512_4772513insAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.4772617_4772625del, NC_000005.9:g.4772618_4772625del, NC_000005.9:g.4772619_4772625del, NC_000005.9:g.4772620_4772625del, NC_000005.9:g.4772621_4772625del, NC_000005.9:g.4772622_4772625del, NC_000005.9:g.4772623_4772625del, NC_000005.9:g.4772624_4772625del, NC_000005.9:g.4772625del, NC_000005.9:g.4772625dup, NC_000005.9:g.4772624_4772625dup, NC_000005.9:g.4772623_4772625dup, NC_000005.9:g.4772622_4772625dup, NC_000005.9:g.4772621_4772625dup, NC_000005.9:g.4772620_4772625dup, NC_000005.9:g.4772619_4772625dup, NC_000005.9:g.4772618_4772625dup, NC_000005.9:g.4772617_4772625dup, NC_000005.9:g.4772616_4772625dup, NC_000005.9:g.4772615_4772625dup, NC_000005.9:g.4772614_4772625dup, NC_000005.9:g.4772613_4772625dup, NC_000005.9:g.4772612_4772625dup, NC_000005.9:g.4772625_4772626insAAAAAAAAAAAAAAAAAAAAAAA
5.
rs1491058811 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- A>-,AA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 5:4772514
(GRCh38)
5:4772627
(GRCh37)
- Canonical SPDI:
- NC_000005.10:4772513:AAAA:AAA,NC_000005.10:4772513:AAAA:AAAAA,NC_000005.10:4772513:AAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- LINC02114 (Varview), LOC107986400 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAA=0./0
(
ALFA)
-=0.00007/1
(TOMMO)
- HGVS:
6.
rs1489305244 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 5:4772253
(GRCh38)
5:4772366
(GRCh37)
- Canonical SPDI:
- NC_000005.10:4772252:A:T
- Gene:
- LINC02114 (Varview), LOC107986400 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000036/5
(GnomAD)
- HGVS:
7.
rs1489292494 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 5:4771838
(GRCh38)
5:4771951
(GRCh37)
- Canonical SPDI:
- NC_000005.10:4771837:G:A
- Gene:
- LINC02114 (Varview), LOC107986400 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
9.
rs1488477425 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 5:4772508
(GRCh38)
5:4772621
(GRCh37)
- Canonical SPDI:
- NC_000005.10:4772507:A:G
- Gene:
- LINC02114 (Varview), LOC107986400 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.00002/1
(GnomAD)
G=0.00004/1
(TOMMO)
- HGVS:
10.
rs1488338014 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 5:4775272
(GRCh38)
5:4775385
(GRCh37)
- Canonical SPDI:
- NC_000005.10:4775271:C:T
- Gene:
- LINC02114 (Varview), LOC107986400 (Varview)
- Functional Consequence:
- 500B_downstream_variant,intron_variant,genic_downstream_transcript_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
- HGVS:
11.
rs1488327239 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 5:4773118
(GRCh38)
5:4773231
(GRCh37)
- Canonical SPDI:
- NC_000005.10:4773117:C:T
- Gene:
- LINC02114 (Varview), LOC107986400 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
12.
rs1488250788 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 5:4773981
(GRCh38)
5:4774094
(GRCh37)
- Canonical SPDI:
- NC_000005.10:4773980:C:T
- Gene:
- LINC02114 (Varview), LOC107986400 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency
- MAF:
T=0.000007/1
(GnomAD)
- HGVS:
14.
rs1485045890 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 5:4772151
(GRCh38)
5:4772264
(GRCh37)
- Canonical SPDI:
- NC_000005.10:4772150:G:A,NC_000005.10:4772150:G:C
- Gene:
- LINC02114 (Varview), LOC107986400 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.0018/8
(
ALFA)
C=0.012/35
(KOREAN)
- HGVS:
15.
rs1485007282 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 5:4775077
(GRCh38)
5:4775190
(GRCh37)
- Canonical SPDI:
- NC_000005.10:4775076:A:T
- Gene:
- LINC02114 (Varview), LOC107986400 (Varview)
- Functional Consequence:
- 500B_downstream_variant,intron_variant,genic_downstream_transcript_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
16.
rs1483398754 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AG>-
[Show Flanks]
- Chromosome:
- 5:4774169
(GRCh38)
5:4774282
(GRCh37)
- Canonical SPDI:
- NC_000005.10:4774167:GAG:G
- Gene:
- LINC02114 (Varview), LOC107986400 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
-=0.000035/1
(TOMMO)
- HGVS:
17.
rs1483229675 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 5:4773786
(GRCh38)
5:4773899
(GRCh37)
- Canonical SPDI:
- NC_000005.10:4773785:T:C,NC_000005.10:4773785:T:G
- Gene:
- LINC02114 (Varview), LOC107986400 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
18.
rs1481247670 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GAA>-
[Show Flanks]
- Chromosome:
- 5:4772518
(GRCh38)
5:4772631
(GRCh37)
- Canonical SPDI:
- NC_000005.10:4772515:AAGAA:AA
- Gene:
- LINC02114 (Varview), LOC107986400 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,genic_downstream_transcript_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
AA=0./0
(
ALFA)
-=0.000008/1
(GnomAD)
- HGVS:
19.
rs1481195934 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 5:4771929
(GRCh38)
5:4772042
(GRCh37)
- Canonical SPDI:
- NC_000005.10:4771928:T:C
- Gene:
- LINC02114 (Varview), LOC107986400 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,genic_downstream_transcript_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
- HGVS:
20.
rs1479563418 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 5:4771526
(GRCh38)
5:4771640
(GRCh37)
- Canonical SPDI:
- NC_000005.10:4771526:AAAAAA:AAAAAAA
- Gene:
- LINC02114 (Varview), LOC107986400 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,genic_downstream_transcript_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
AAAAAAA=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS: