Links from Gene
Items: 1 to 20 of 1607
1.
rs1490856711 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 6:169964844
(GRCh38)
6:-1
(GRCh37)
- Canonical SPDI:
- NC_000006.12:169964843:G:A
- Gene:
- LOC100131532 (Varview), LOC107986675 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
2.
rs1490108324 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 6:169963002
(GRCh38)
6:-1
(GRCh37)
- Canonical SPDI:
- NC_000006.12:169963001:A:G
- Gene:
- LOC100131532 (Varview), LOC107986675 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
G=0.000029/4
(GnomAD)
- HGVS:
3.
rs1490043111 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 6:169964376
(GRCh38)
6:-1
(GRCh37)
- Canonical SPDI:
- NC_000006.12:169964375:A:C
- Gene:
- LOC100131532 (Varview), LOC107986675 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
4.
rs1489944878 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 6:169962585
(GRCh38)
6:-1
(GRCh37)
- Canonical SPDI:
- NC_000006.12:169962584:T:C
- Gene:
- LOC100131532 (Varview), LOC107986675 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000019/5
(TOPMED)
- HGVS:
5.
rs1489508436 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G,T
[Show Flanks]
- Chromosome:
- 6:169965829
(GRCh38)
6:-1
(GRCh37)
- Canonical SPDI:
- NC_000006.12:169965828:C:A,NC_000006.12:169965828:C:G,NC_000006.12:169965828:C:T
- Gene:
- LOC100131532 (Varview), LOC107986675 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
T=0.000035/1
(TOMMO)
T=0.000156/1
(1000Genomes)
- HGVS:
7.
rs1488512416 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C,T
[Show Flanks]
- Chromosome:
- 6:169963079
(GRCh38)
6:-1
(GRCh37)
- Canonical SPDI:
- NC_000006.12:169963078:G:A,NC_000006.12:169963078:G:C,NC_000006.12:169963078:G:T
- Gene:
- LOC100131532 (Varview), LOC107986675 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
8.
rs1488463356 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 6:169962253
(GRCh38)
6:-1
(GRCh37)
- Canonical SPDI:
- NC_000006.12:169962252:T:G
- Gene:
- LOC100131532 (Varview), LOC107986675 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
9.
rs1488172490 has merged into rs878868242 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TGTGTGTG>-,TG,TGTG,TGTGTG,TGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTGTG,TGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTG
[Show Flanks]
- Chromosome:
- 6:169961538
(GRCh38)
6:11
(GRCh37)
- Canonical SPDI:
- NC_000006.12:169961525:TGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTG,NC_000006.12:169961525:TGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTG,NC_000006.12:169961525:TGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTG,NC_000006.12:169961525:TGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTG,NC_000006.12:169961525:TGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTG,NC_000006.12:169961525:TGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTG,NC_000006.12:169961525:TGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000006.12:169961525:TGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000006.12:169961525:TGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000006.12:169961525:TGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000006.12:169961525:TGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000006.12:169961525:TGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000006.12:169961525:TGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
- Gene:
- LOC100131532 (Varview), LOC107986675 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGTGTGTGTGTG=0./0
(
ALFA)
- HGVS:
NC_000006.12:g.169961526TG[6], NC_000006.12:g.169961526TG[7], NC_000006.12:g.169961526TG[8], NC_000006.12:g.169961526TG[9], NC_000006.12:g.169961526TG[11], NC_000006.12:g.169961526TG[12], NC_000006.12:g.169961526TG[13], NC_000006.12:g.169961526TG[14], NC_000006.12:g.169961526TG[15], NC_000006.12:g.169961526TG[16], NC_000006.12:g.169961526TG[17], NC_000006.12:g.169961526TG[18], NC_000006.12:g.169961526TG[19]
10.
rs1488138597 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 6:169961991
(GRCh38)
6:-1
(GRCh37)
- Canonical SPDI:
- NC_000006.12:169961990:G:C
- Gene:
- LOC100131532 (Varview), LOC107986675 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
11.
rs1487552029 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 6:169964906
(GRCh38)
6:-1
(GRCh37)
- Canonical SPDI:
- NC_000006.12:169964905:A:G
- Gene:
- LOC100131532 (Varview), LOC107986675 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
12.
rs1487546314 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 6:169964033
(GRCh38)
6:-1
(GRCh37)
- Canonical SPDI:
- NC_000006.12:169964032:G:A
- Gene:
- LOC100131532 (Varview), LOC107986675 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000019/5
(TOPMED)
- HGVS:
14.
rs1486744250 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 6:169960995
(GRCh38)
6:-1
(GRCh37)
- Canonical SPDI:
- NC_000006.12:169960994:G:A
- Gene:
- LOC100131532 (Varview), LOC107986675 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000142/4
(TOMMO)
- HGVS:
15.
rs1486304670 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 6:169961604
(GRCh38)
6:-1
(GRCh37)
- Canonical SPDI:
- NC_000006.12:169961603:C:A
- Gene:
- LOC100131532 (Varview), LOC107986675 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000011/3
(TOPMED)
- HGVS:
16.
rs1486182668 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 6:169963888
(GRCh38)
6:-1
(GRCh37)
- Canonical SPDI:
- NC_000006.12:169963887:T:C,NC_000006.12:169963887:T:G
- Gene:
- LOC100131532 (Varview), LOC107986675 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.01555/145
(
ALFA)
C=0.00057/16
(TOMMO)
C=0.00391/362
(GnomAD)
- HGVS:
17.
rs1486177180 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 6:169961379
(GRCh38)
6:-1
(GRCh37)
- Canonical SPDI:
- NC_000006.12:169961378:A:G
- Gene:
- LOC100131532 (Varview), LOC107986675 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000071/1
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
18.
rs1485753476 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 6:169968073
(GRCh38)
6:-1
(GRCh37)
- Canonical SPDI:
- NC_000006.12:169968072:G:T
- Gene:
- LOC100131532 (Varview), LOC107986675 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,downstream_transcript_variant,intron_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000036/5
(GnomAD)
T=0.000053/14
(TOPMED)
T=0.000602/17
(TOMMO)
- HGVS:
19.
rs1485701858 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 6:169966960
(GRCh38)
6:-1
(GRCh37)
- Canonical SPDI:
- NC_000006.12:169966959:C:T
- Gene:
- LOC100131532 (Varview), LOC107986675 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000021/3
(GnomAD)
- HGVS:
20.
rs1485596194 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 6:169964081
(GRCh38)
6:-1
(GRCh37)
- Canonical SPDI:
- NC_000006.12:169964080:G:A,NC_000006.12:169964080:G:T
- Gene:
- LOC100131532 (Varview), LOC107986675 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
- HGVS: