Links from Gene
Items: 1 to 20 of 6447
1.
rs1491130709 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 16:49375341
(GRCh38)
16:49409252
(GRCh37)
- Canonical SPDI:
- NC_000016.10:49375339:ATA:A
- Gene:
- C16orf78 (Varview), LOC105371244 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
2.
rs1490904492 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 16:49382696
(GRCh38)
16:49416607
(GRCh37)
- Canonical SPDI:
- NC_000016.10:49382695:T:G
- Gene:
- C16orf78 (Varview), LOC105371244 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000546/1
(Korea1K)
- HGVS:
3.
rs1490785991 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 16:49388699
(GRCh38)
16:49422610
(GRCh37)
- Canonical SPDI:
- NC_000016.10:49388698:A:G
- Gene:
- C16orf78 (Varview), LOC105371244 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000019/5
(TOPMED)
G=0.000106/2
(TOMMO)
G=0.000342/1
(KOREAN)
- HGVS:
4.
rs1490708969 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 16:49399796
(GRCh38)
16:49433707
(GRCh37)
- Canonical SPDI:
- NC_000016.10:49399795:G:A,NC_000016.10:49399795:G:C
- Gene:
- C16orf78 (Varview), LOC105371244 (Varview)
- Functional Consequence:
- 500B_downstream_variant,intron_variant,downstream_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
5.
rs1490703872 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 16:49387398
(GRCh38)
16:49421309
(GRCh37)
- Canonical SPDI:
- NC_000016.10:49387397:G:A
- Gene:
- C16orf78 (Varview), LOC105371244 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,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:
7.
rs1490389216 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 16:49381112
(GRCh38)
16:49415023
(GRCh37)
- Canonical SPDI:
- NC_000016.10:49381111:G:A
- Gene:
- C16orf78 (Varview), LOC105371244 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
8.
rs1490254817 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- 16:49380582
(GRCh38)
16:49414493
(GRCh37)
- Canonical SPDI:
- NC_000016.10:49380581:C:
- Gene:
- C16orf78 (Varview), LOC105371244 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000014/2
(GnomAD)
-=0.000019/5
(TOPMED)
- HGVS:
9.
rs1490228300 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 16:49381519
(GRCh38)
16:49415430
(GRCh37)
- Canonical SPDI:
- NC_000016.10:49381518:A:G
- Gene:
- C16orf78 (Varview), LOC105371244 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
10.
rs1490021982 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 16:49374550
(GRCh38)
16:49408461
(GRCh37)
- Canonical SPDI:
- NC_000016.10:49374549:C:G
- Gene:
- C16orf78 (Varview), LOC105371244 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
11.
rs1490011223 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 16:49389220
(GRCh38)
16:49423131
(GRCh37)
- Canonical SPDI:
- NC_000016.10:49389219:C:G,NC_000016.10:49389219:C:T
- Gene:
- C16orf78 (Varview), LOC105371244 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000019/5
(TOPMED)
T=0.000029/4
(GnomAD)
T=0.000035/1
(TOMMO)
- HGVS:
12.
rs1489800043 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 16:49390305
(GRCh38)
16:49424216
(GRCh37)
- Canonical SPDI:
- NC_000016.10:49390304:G:T
- Gene:
- C16orf78 (Varview), LOC105371244 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
14.
rs1489631254 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 16:49397857
(GRCh38)
16:49431768
(GRCh37)
- Canonical SPDI:
- NC_000016.10:49397856:C:T
- Gene:
- C16orf78 (Varview), LOC105371244 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
T=0.000019/5
(TOPMED)
- HGVS:
15.
rs1489394194 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 16:49390375
(GRCh38)
16:49424286
(GRCh37)
- Canonical SPDI:
- NC_000016.10:49390374:G:C
- Gene:
- C16orf78 (Varview), LOC105371244 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
17.
rs1489139602 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 16:49386217
(GRCh38)
16:49420128
(GRCh37)
- Canonical SPDI:
- NC_000016.10:49386216:G:T
- Gene:
- C16orf78 (Varview), LOC105371244 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
T=0.000546/1
(Korea1K)
T=0.000708/12
(TOMMO)
T=0.002396/7
(KOREAN)
- HGVS:
18.
rs1488969471 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 16:49373055
(GRCh38)
16:49406966
(GRCh37)
- Canonical SPDI:
- NC_000016.10:49373054:C:T
- Gene:
- C16orf78 (Varview), LOC105371244 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
19.
rs1488818472 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 16:49390714
(GRCh38)
16:49424625
(GRCh37)
- Canonical SPDI:
- NC_000016.10:49390713:T:A
- Gene:
- C16orf78 (Varview), LOC105371244 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
20.
rs1488767949 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 16:49389625
(GRCh38)
16:49423536
(GRCh37)
- Canonical SPDI:
- NC_000016.10:49389624:C:G
- Gene:
- C16orf78 (Varview), LOC105371244 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,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: