Links from Gene
Items: 1 to 20 of 3090
1.
rs1490730505 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 8:21307561
(GRCh38)
8:21165072
(GRCh37)
- Canonical SPDI:
- NC_000008.11:21307560:C:T
- Gene:
- LOC101929172 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
2.
rs1490653472 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C,G
[Show Flanks]
- Chromosome:
- 8:21305210
(GRCh38)
8:21162721
(GRCh37)
- Canonical SPDI:
- NC_000008.11:21305209:T:A,NC_000008.11:21305209:T:C,NC_000008.11:21305209:T:G
- Gene:
- LOC101929172 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000015/4
(TOPMED)
G=0.000212/4
(TOMMO)
- HGVS:
3.
rs1490536793 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 8:21306224
(GRCh38)
8:21163735
(GRCh37)
- Canonical SPDI:
- NC_000008.11:21306223:G:A
- Gene:
- LOC101929172 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
4.
rs1489971962 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 8:21297705
(GRCh38)
8:21155216
(GRCh37)
- Canonical SPDI:
- NC_000008.11:21297704:G:A,NC_000008.11:21297704:G:T
- Gene:
- LOC101929172 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
5.
rs1489835858 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 8:21304720
(GRCh38)
8:21162231
(GRCh37)
- Canonical SPDI:
- NC_000008.11:21304719:C:G
- Gene:
- LOC101929172 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000071/1
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
6.
rs1489742688 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 8:21300400
(GRCh38)
8:21157911
(GRCh37)
- Canonical SPDI:
- NC_000008.11:21300399:A:G
- Gene:
- LOC101929172 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
7.
rs1489484888 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 8:21301407
(GRCh38)
8:21158918
(GRCh37)
- Canonical SPDI:
- NC_000008.11:21301406:A:T
- Gene:
- LOC101929172 (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:
8.
rs1489380670 has merged into rs139117262 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GAGAGA>-,GA,GAGA
[Show Flanks]
- Chromosome:
- 8:21299761
(GRCh38)
8:21157272
(GRCh37)
- Canonical SPDI:
- NC_000008.11:21299757:AGAGAGAGA:AGA,NC_000008.11:21299757:AGAGAGAGA:AGAGA,NC_000008.11:21299757:AGAGAGAGA:AGAGAGA
- Gene:
- LOC101929172 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AGAGA=0.000062/1
(
ALFA)
-=0.076597/343
(Estonian)
-=0.110673/29294
(TOPMED)
-=0.115741/25
(Vietnamese)
-=0.11717/1964
(TOMMO)
-=0.126198/632
(1000Genomes)
-=0.15/6
(GENOME_DK)
-=0.168333/101
(NorthernSweden)
- HGVS:
9.
rs1489133720 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 8:21300065
(GRCh38)
8:21157576
(GRCh37)
- Canonical SPDI:
- NC_000008.11:21300064:C:A,NC_000008.11:21300064:C:T
- Gene:
- LOC101929172 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0./0
(KOREAN)
A=0.000035/1
(TOMMO)
T=0.000043/6
(GnomAD)
T=0.000057/15
(TOPMED)
T=0.004673/1
(Vietnamese)
- HGVS:
10.
rs1489123089 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTAT>-
[Show Flanks]
- Chromosome:
- 8:21300861
(GRCh38)
8:21158372
(GRCh37)
- Canonical SPDI:
- NC_000008.11:21300857:TATTTAT:TAT
- Gene:
- LOC101929172 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TAT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
12.
rs1488257151 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 8:21297075
(GRCh38)
8:21154586
(GRCh37)
- Canonical SPDI:
- NC_000008.11:21297074:C:T
- Gene:
- LOC101929172 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
13.
rs1488204970 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 8:21296435
(GRCh38)
8:21153946
(GRCh37)
- Canonical SPDI:
- NC_000008.11:21296434:T:C
- Gene:
- LOC101929172 (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=0.000008/2
(TOPMED)
- HGVS:
14.
rs1487740744 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 8:21299323
(GRCh38)
8:21156834
(GRCh37)
- Canonical SPDI:
- NC_000008.11:21299322:C:G,NC_000008.11:21299322:C:T
- Gene:
- LOC101929172 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
15.
rs1487490429 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 8:21303542
(GRCh38)
8:21161053
(GRCh37)
- Canonical SPDI:
- NC_000008.11:21303541:A:G
- Gene:
- LOC101929172 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
17.
rs1487156436 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 8:21299872
(GRCh38)
8:21157383
(GRCh37)
- Canonical SPDI:
- NC_000008.11:21299871:G:A
- Gene:
- LOC101929172 (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:
18.
rs1487082427 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C,T
[Show Flanks]
- Chromosome:
- 8:21309610
(GRCh38)
8:21167121
(GRCh37)
- Canonical SPDI:
- NC_000008.11:21309609:G:C,NC_000008.11:21309609:G:T
- Gene:
- LOC101929172 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
19.
rs1486938226 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 8:21305234
(GRCh38)
8:21162745
(GRCh37)
- Canonical SPDI:
- NC_000008.11:21305233:C:T
- Gene:
- LOC101929172 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
20.
rs1486909410 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 8:21297966
(GRCh38)
8:21155477
(GRCh37)
- Canonical SPDI:
- NC_000008.11:21297965:C:T
- Gene:
- LOC101929172 (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=0.000007/1
(GnomAD)
- HGVS: