Links from Gene
Items: 1 to 20 of 539
1.
rs1490213301 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 7:65753876
(GRCh38)
7:65218863
(GRCh37)
- Canonical SPDI:
- NC_000007.14:65753875:A:G
- Gene:
- LINC03006 (Varview), CCT6P1 (Varview), SNORA22 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
2.
rs1490187313 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 7:65754774
(GRCh38)
7:65219761
(GRCh37)
- Canonical SPDI:
- NC_000007.14:65754773:A:C
- Gene:
- LINC03006 (Varview), CCT6P1 (Varview), SNORA22 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant,genic_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:
3.
rs1489706317 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 7:65756036
(GRCh38)
7:65221023
(GRCh37)
- Canonical SPDI:
- NC_000007.14:65756035:A:G
- Gene:
- LINC03006 (Varview), CCT6P1 (Varview), SNORA22 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000021/3
(GnomAD)
G=0.000026/7
(TOPMED)
- HGVS:
4.
rs1489657161 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 7:65754230
(GRCh38)
7:65219217
(GRCh37)
- Canonical SPDI:
- NC_000007.14:65754229:C:A,NC_000007.14:65754229:C:T
- Gene:
- LINC03006 (Varview), CCT6P1 (Varview), SNORA22 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.00003/8
(TOPMED)
- HGVS:
5.
rs1489605304 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 7:65755077
(GRCh38)
7:65220064
(GRCh37)
- Canonical SPDI:
- NC_000007.14:65755076:G:A
- Gene:
- LINC03006 (Varview), CCT6P1 (Varview), SNORA22 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000019/5
(TOPMED)
- HGVS:
6.
rs1489237792 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 7:65755108
(GRCh38)
7:65220095
(GRCh37)
- Canonical SPDI:
- NC_000007.14:65755107:A:G,NC_000007.14:65755107:A:T
- Gene:
- LINC03006 (Varview), CCT6P1 (Varview), SNORA22 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
7.
rs1488981150 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 7:65756141
(GRCh38)
7:65221128
(GRCh37)
- Canonical SPDI:
- NC_000007.14:65756140:G:A
- Gene:
- LINC03006 (Varview), CCT6P1 (Varview), SNORA22 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000069/1
(
ALFA)
A=0.000098/26
(TOPMED)
A=0.000143/20
(GnomAD)
- HGVS:
8.
rs1487642735 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 7:65756015
(GRCh38)
7:65221002
(GRCh37)
- Canonical SPDI:
- NC_000007.14:65756014:G:A
- Gene:
- LINC03006 (Varview), CCT6P1 (Varview), SNORA22 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000015/4
(TOPMED)
A=0.000029/4
(GnomAD)
- HGVS:
9.
rs1485529928 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 7:65754137
(GRCh38)
7:65219124
(GRCh37)
- Canonical SPDI:
- NC_000007.14:65754136:A:G,NC_000007.14:65754136:A:T
- Gene:
- LINC03006 (Varview), CCT6P1 (Varview), SNORA22 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000064/9
(GnomAD)
- HGVS:
10.
rs1482076758 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 7:65753967
(GRCh38)
7:65218954
(GRCh37)
- Canonical SPDI:
- NC_000007.14:65753966:C:T
- Gene:
- LINC03006 (Varview), CCT6P1 (Varview), SNORA22 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000035/1
(TOMMO)
T=0.000051/7
(GnomAD)
T=0.000072/19
(TOPMED)
- HGVS:
11.
rs1481771799 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 7:65754014
(GRCh38)
7:65219001
(GRCh37)
- Canonical SPDI:
- NC_000007.14:65754013:C:T
- Gene:
- LINC03006 (Varview), CCT6P1 (Varview), SNORA22 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,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:
12.
rs1481142209 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- T>-
[Show Flanks]
- Chromosome:
- 7:65754397
(GRCh38)
7:65219384
(GRCh37)
- Canonical SPDI:
- NC_000007.14:65754396:TTT:TT
- Gene:
- LINC03006 (Varview), CCT6P1 (Varview), SNORA22 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
13.
rs1480419480 has merged into rs1270203492 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- T>-,TT
[Show Flanks]
- Chromosome:
- 7:65753959
(GRCh38)
7:65218946
(GRCh37)
- Canonical SPDI:
- NC_000007.14:65753958:TTTTTTT:TTTTTT,NC_000007.14:65753958:TTTTTTT:TTTTTTTT
- Gene:
- LINC03006 (Varview), CCT6P1 (Varview), SNORA22 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTT=0./0
(
ALFA)
-=0.000015/2
(GnomAD)
-=0.000035/1
(TOMMO)
- HGVS:
14.
rs1479444826 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 7:65754307
(GRCh38)
7:65219294
(GRCh37)
- Canonical SPDI:
- NC_000007.14:65754306:T:G
- Gene:
- LINC03006 (Varview), CCT6P1 (Varview), SNORA22 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_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:
15.
rs1479187622 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 7:65755179
(GRCh38)
7:65220166
(GRCh37)
- Canonical SPDI:
- NC_000007.14:65755178:T:C,NC_000007.14:65755178:T:G
- Gene:
- LINC03006 (Varview), CCT6P1 (Varview), SNORA22 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
16.
rs1478688884 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 7:65755278
(GRCh38)
7:65220265
(GRCh37)
- Canonical SPDI:
- NC_000007.14:65755277:C:G,NC_000007.14:65755277:C:T
- Gene:
- LINC03006 (Varview), CCT6P1 (Varview), SNORA22 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
G=0.000057/8
(GnomAD)
- HGVS:
17.
rs1477229049 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 7:65756105
(GRCh38)
7:65221092
(GRCh37)
- Canonical SPDI:
- NC_000007.14:65756104:T:G
- Gene:
- LINC03006 (Varview), CCT6P1 (Varview), SNORA22 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.00003/8
(TOPMED)
G=0.000043/6
(GnomAD)
- HGVS:
18.
rs1476053280 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 7:65754759
(GRCh38)
7:65219746
(GRCh37)
- Canonical SPDI:
- NC_000007.14:65754758:T:C
- Gene:
- LINC03006 (Varview), CCT6P1 (Varview), SNORA22 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000019/5
(TOPMED)
C=0.000035/1
(TOMMO)
C=0.000036/5
(GnomAD)
- HGVS:
19.
rs1475942130 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 7:65753867
(GRCh38)
7:65218854
(GRCh37)
- Canonical SPDI:
- NC_000007.14:65753866:A:G
- Gene:
- LINC03006 (Varview), CCT6P1 (Varview), SNORA22 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000038/10
(TOPMED)
G=0.000043/6
(GnomAD)
- HGVS:
20.
rs1473942479 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 7:65754687
(GRCh38)
7:65219674
(GRCh37)
- Canonical SPDI:
- NC_000007.14:65754686:T:C
- Gene:
- LINC03006 (Varview), CCT6P1 (Varview), SNORA22 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS: