Links from Gene
Items: 1 to 20 of 12067
1.
rs1491553805 has merged into rs140642017 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CACACACACACACA>-,CA,CACA,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACA
[Show Flanks]
- Chromosome:
- 8:48813011
(GRCh38)
8:49725570
(GRCh37)
- Canonical SPDI:
- NC_000008.11:48812993:ACACACACACACACACACACACACACACACA:ACACACACACACACACA,NC_000008.11:48812993:ACACACACACACACACACACACACACACACA:ACACACACACACACACACA,NC_000008.11:48812993:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACA,NC_000008.11:48812993:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000008.11:48812993:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000008.11:48812993:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000008.11:48812993:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000008.11:48812993:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA,NC_000008.11:48812993:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA,NC_000008.11:48812993:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACA,NC_000008.11:48812993:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACA,NC_000008.11:48812993:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACA,NC_000008.11:48812993:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACA,NC_000008.11:48812993:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACA,NC_000008.11:48812993:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACA,NC_000008.11:48812993:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000008.11:48812993:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACA
- Gene:
- LOC105375825 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACACACACACACACACACA=0./0
(
ALFA)
- HGVS:
NC_000008.11:g.48812995CA[8], NC_000008.11:g.48812995CA[9], NC_000008.11:g.48812995CA[10], NC_000008.11:g.48812995CA[11], NC_000008.11:g.48812995CA[12], NC_000008.11:g.48812995CA[13], NC_000008.11:g.48812995CA[14], NC_000008.11:g.48812995CA[16], NC_000008.11:g.48812995CA[17], NC_000008.11:g.48812995CA[18], NC_000008.11:g.48812995CA[19], NC_000008.11:g.48812995CA[20], NC_000008.11:g.48812995CA[21], NC_000008.11:g.48812995CA[22], NC_000008.11:g.48812995CA[23], NC_000008.11:g.48812995CA[24], NC_000008.11:g.48812995CA[25], NC_000008.10:g.49725554CA[8], NC_000008.10:g.49725554CA[9], NC_000008.10:g.49725554CA[10], NC_000008.10:g.49725554CA[11], NC_000008.10:g.49725554CA[12], NC_000008.10:g.49725554CA[13], NC_000008.10:g.49725554CA[14], NC_000008.10:g.49725554CA[16], NC_000008.10:g.49725554CA[17], NC_000008.10:g.49725554CA[18], NC_000008.10:g.49725554CA[19], NC_000008.10:g.49725554CA[20], NC_000008.10:g.49725554CA[21], NC_000008.10:g.49725554CA[22], NC_000008.10:g.49725554CA[23], NC_000008.10:g.49725554CA[24], NC_000008.10:g.49725554CA[25]
2.
rs1491386685 has merged into rs34669810 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,A,AAA,AAAA,AAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 8:48810125
(GRCh38)
8:49722684
(GRCh37)
- Canonical SPDI:
- NC_000008.11:48810112:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000008.11:48810112:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000008.11:48810112:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000008.11:48810112:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000008.11:48810112:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- LOC105375825 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAAA=0./0
(
ALFA)
- HGVS:
3.
rs1491371754 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-
[Show Flanks]
- Chromosome:
- 8:48796804
(GRCh38)
8:49709363
(GRCh37)
- Canonical SPDI:
- NC_000008.11:48796798:TTTTTTT:TTTTT
- Gene:
- LOC105375825 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTT=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000008/2
(TOPMED)
- HGVS:
4.
rs1491306294 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 8:48796799
(GRCh38)
8:49709359
(GRCh37)
- Canonical SPDI:
- NC_000008.11:48796799::C
- Gene:
- LOC105375825 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000043/6
(GnomAD)
- HGVS:
5.
rs1491003878 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 8:48827298
(GRCh38)
8:49739857
(GRCh37)
- Canonical SPDI:
- NC_000008.11:48827297:A:G
- Gene:
- LOC105375825 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000295/78
(TOPMED)
G=0.000335/47
(GnomAD)
- HGVS:
6.
rs1490956998 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 8:48779214
(GRCh38)
8:49691773
(GRCh37)
- Canonical SPDI:
- NC_000008.11:48779213:T:C
- Gene:
- LOC105375825 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
7.
rs1490841784 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 8:48794290
(GRCh38)
8:49706849
(GRCh37)
- Canonical SPDI:
- NC_000008.11:48794289:T:A
- Gene:
- LOC105375825 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
8.
rs1490760075 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 8:48817660
(GRCh38)
8:49730219
(GRCh37)
- Canonical SPDI:
- NC_000008.11:48817659:G:
- Gene:
- LOC105375825 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
-=0.000015/2
(GnomAD)
- HGVS:
9.
rs1490615691 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 8:48799910
(GRCh38)
8:49712469
(GRCh37)
- Canonical SPDI:
- NC_000008.11:48799909:G:A,NC_000008.11:48799909:G:T
- Gene:
- LOC105375825 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.00007/1
(TOMMO)
T=0.00016/1
(1000Genomes)
T=0.00068/2
(KOREAN)
- HGVS:
10.
rs1490536828 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TTT
[Show Flanks]
- Chromosome:
- 8:48785616
(GRCh38)
8:49698176
(GRCh37)
- Canonical SPDI:
- NC_000008.11:48785616:TTT:TTTTTT
- Gene:
- LOC105375825 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TTTTTT=0.000071/1
(
ALFA)
TTT=0.000004/1
(TOPMED)
- HGVS:
12.
rs1490466666 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 8:48778681
(GRCh38)
8:49691240
(GRCh37)
- Canonical SPDI:
- NC_000008.11:48778680:C:T
- Gene:
- LOC105375825 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000019/5
(TOPMED)
T=0.000057/8
(GnomAD)
- HGVS:
13.
rs1490421750 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 8:48786535
(GRCh38)
8:49699094
(GRCh37)
- Canonical SPDI:
- NC_000008.11:48786534:A:G
- Gene:
- LOC105375825 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000014/2
(GnomAD)
- HGVS:
14.
rs1490360596 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 8:48789088
(GRCh38)
8:49701647
(GRCh37)
- Canonical SPDI:
- NC_000008.11:48789087:A:T
- Gene:
- LOC105375825 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000021/3
(GnomAD)
- HGVS:
15.
rs1490352050 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 8:48793999
(GRCh38)
8:49706558
(GRCh37)
- Canonical SPDI:
- NC_000008.11:48793998:G:A
- Gene:
- LOC105375825 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
- HGVS:
16.
rs1490343722 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 8:48786216
(GRCh38)
8:49698775
(GRCh37)
- Canonical SPDI:
- NC_000008.11:48786215:A:G
- Gene:
- LOC105375825 (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:
17.
rs1490298008 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- A>-
[Show Flanks]
- Chromosome:
- 8:48798544
(GRCh38)
8:49711103
(GRCh37)
- Canonical SPDI:
- NC_000008.11:48798543:AA:A
- Gene:
- LOC105375825 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
AA=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
18.
rs1490285830 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 8:48811089
(GRCh38)
8:49723648
(GRCh37)
- Canonical SPDI:
- NC_000008.11:48811088:A:T
- Gene:
- LOC105375825 (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:
19.
rs1490259373 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 8:48812183
(GRCh38)
8:49724742
(GRCh37)
- Canonical SPDI:
- NC_000008.11:48812182:C:T
- Gene:
- LOC105375825 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
20.
rs1490237085 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 8:48825949
(GRCh38)
8:49738508
(GRCh37)
- Canonical SPDI:
- NC_000008.11:48825948:A:G
- Gene:
- LOC105375825 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS: