Links from Gene
Items: 1 to 20 of 769
1.
rs1490706949 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 7:56484975
(GRCh38)
7:56552668
(GRCh37)
- Canonical SPDI:
- NC_000007.14:56484974:T:C
- Gene:
- LOC100240728 (Varview), LOC124901640 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000071/1
(TOMMO)
C=0.000684/2
(KOREAN)
- HGVS:
3.
rs1488223860 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 7:56483965
(GRCh38)
7:56551658
(GRCh37)
- Canonical SPDI:
- NC_000007.14:56483964:G:T
- Gene:
- LOC100240728 (Varview), LOC124901640 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000035/1
(TOMMO)
- HGVS:
4.
rs1485113451 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 7:56482298
(GRCh38)
7:56549991
(GRCh37)
- Canonical SPDI:
- NC_000007.14:56482297:G:A
- Gene:
- LOC100240728 (Varview), LOC124901640 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000019/5
(TOPMED)
A=0.000021/3
(GnomAD)
- HGVS:
5.
rs1485019619 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 7:56484163
(GRCh38)
7:56551856
(GRCh37)
- Canonical SPDI:
- NC_000007.14:56484162:G:A,NC_000007.14:56484162:G:C
- Gene:
- LOC100240728 (Varview), LOC124901640 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
6.
rs1484998665 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 7:56485314
(GRCh38)
7:56553007
(GRCh37)
- Canonical SPDI:
- NC_000007.14:56485313:G:A
- Gene:
- LOC100240728 (Varview), LOC124901640 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.00003/8
(TOPMED)
A=0.000036/5
(GnomAD)
- HGVS:
7.
rs1484989492 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 7:56481803
(GRCh38)
7:56549496
(GRCh37)
- Canonical SPDI:
- NC_000007.14:56481802:T:A
- Gene:
- LOC100240728 (Varview), LOC124901640 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency
- MAF:
A=0.000007/1
(GnomAD)
- HGVS:
8.
rs1484168664 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 7:56483718
(GRCh38)
7:56551411
(GRCh37)
- Canonical SPDI:
- NC_000007.14:56483717:G:C
- Gene:
- LOC100240728 (Varview), LOC124901640 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
9.
rs1484133212 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 7:56482822
(GRCh38)
7:56550515
(GRCh37)
- Canonical SPDI:
- NC_000007.14:56482821:C:T
- Gene:
- LOC100240728 (Varview), LOC124901640 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
10.
rs1481886503 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATT>-
[Show Flanks]
- Chromosome:
- 7:56484605
(GRCh38)
7:56552298
(GRCh37)
- Canonical SPDI:
- NC_000007.14:56484601:ATTATT:ATT
- Gene:
- LOC100240728 (Varview), LOC124901640 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATTATT=0./0
(
ALFA)
-=0.000014/2
(GnomAD)
-=0.000026/7
(TOPMED)
- HGVS:
12.
rs1481778391 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 7:56484564
(GRCh38)
7:56552257
(GRCh37)
- Canonical SPDI:
- NC_000007.14:56484563:G:A
- Gene:
- LOC100240728 (Varview), LOC124901640 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.00005/7
(GnomAD)
A=0.000072/19
(TOPMED)
A=0.000156/1
(1000Genomes)
A=0.001097/18
(TOMMO)
A=0.002053/6
(KOREAN)
- HGVS:
13.
rs1481766930 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TAG>-
[Show Flanks]
- Chromosome:
- 7:56481657
(GRCh38)
7:56549350
(GRCh37)
- Canonical SPDI:
- NC_000007.14:56481654:AGTAG:AG
- Gene:
- LOC100240728 (Varview), LOC124901640 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AG=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000034/9
(TOPMED)
- HGVS:
14.
rs1481253388 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 7:56484211
(GRCh38)
7:56551904
(GRCh37)
- Canonical SPDI:
- NC_000007.14:56484210:T:C
- Gene:
- LOC100240728 (Varview), LOC124901640 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
15.
rs1479218791 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 7:56483291
(GRCh38)
7:56550984
(GRCh37)
- Canonical SPDI:
- NC_000007.14:56483290:T:G
- Gene:
- LOC100240728 (Varview), LOC124901640 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_upstream_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000011/3
(TOPMED)
- HGVS:
16.
rs1478157153 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 7:56482692
(GRCh38)
7:56550385
(GRCh37)
- Canonical SPDI:
- NC_000007.14:56482691:G:A
- Gene:
- LOC100240728 (Varview), LOC124901640 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000014/2
(GnomAD)
A=0.000015/4
(TOPMED)
- HGVS:
17.
rs1475186527 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- C>-,CC
[Show Flanks]
- Chromosome:
- 7:56482032
(GRCh38)
7:56549725
(GRCh37)
- Canonical SPDI:
- NC_000007.14:56482031:CCCCCC:CCCCC,NC_000007.14:56482031:CCCCCC:CCCCCCC
- Gene:
- LOC100240728 (Varview), LOC124901640 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CCCCCCC=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
18.
rs1474700278 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 7:56482385
(GRCh38)
7:56550078
(GRCh37)
- Canonical SPDI:
- NC_000007.14:56482384:C:T
- Gene:
- LOC100240728 (Varview), LOC124901640 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
19.
rs1474377269 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 7:56481881
(GRCh38)
7:56549574
(GRCh37)
- Canonical SPDI:
- NC_000007.14:56481880:T:C
- Gene:
- LOC100240728 (Varview), LOC124901640 (Varview)
- Functional Consequence:
- 500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
20.
rs1473428331 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 7:56484383
(GRCh38)
7:56552077
(GRCh37)
- Canonical SPDI:
- NC_000007.14:56484383:A:AA
- Gene:
- LOC100240728 (Varview), LOC124901640 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AA=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000086/12
(GnomAD)
- HGVS: