Links from Gene
Items: 1 to 20 of 1000
1.
rs1491072281 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 18:12201719
(GRCh38)
18:12201718
(GRCh37)
- Canonical SPDI:
- NC_000018.10:12201717:ATA:A
- Gene:
- C18orf61 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
-=0.00005/7
(GnomAD)
- HGVS:
2.
rs1490952553 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 18:12222797
(GRCh38)
18:12222796
(GRCh37)
- Canonical SPDI:
- NC_000018.10:12222796:C:T
- Gene:
- C18orf61 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000015/2
(GnomAD)
- HGVS:
3.
rs1490935743 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 18:12216978
(GRCh38)
18:12216977
(GRCh37)
- Canonical SPDI:
- NC_000018.10:12216977:T:C
- Gene:
- C18orf61 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.00011/2
(TOMMO)
C=0.00055/1
(Korea1K)
C=0.00069/2
(KOREAN)
- HGVS:
4.
rs1490886594 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 18:12223767
(GRCh38)
18:12223766
(GRCh37)
- Canonical SPDI:
- NC_000018.10:12223766:C:G
- Gene:
- C18orf61 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
5.
rs1490773315 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G,T
[Show Flanks]
- Chromosome:
- 18:12221804
(GRCh38)
18:12221803
(GRCh37)
- Canonical SPDI:
- NC_000018.10:12221803:C:A,NC_000018.10:12221803:C:G,NC_000018.10:12221803:C:T
- Gene:
- C18orf61 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000019/5
(TOPMED)
C=0.5/1
(SGDP_PRJ)
- HGVS:
7.
rs1490558783 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 18:12201610
(GRCh38)
18:12201609
(GRCh37)
- Canonical SPDI:
- NC_000018.10:12201609:C:T
- Gene:
- C18orf61 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000029/4
(GnomAD)
T=0.000156/1
(1000Genomes)
- HGVS:
8.
rs1490513648 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 18:12221609
(GRCh38)
18:12221608
(GRCh37)
- Canonical SPDI:
- NC_000018.10:12221608:C:G
- Gene:
- C18orf61 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000015/4
(TOPMED)
- HGVS:
11.
rs1490179677 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G
[Show Flanks]
- Chromosome:
- 18:12208407
(GRCh38)
18:12208406
(GRCh37)
- Canonical SPDI:
- NC_000018.10:12208406:C:A,NC_000018.10:12208406:C:G
- Gene:
- C18orf61 (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)
G=0.000343/1
(KOREAN)
- HGVS:
12.
rs1490131338 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 18:12223151
(GRCh38)
18:12223150
(GRCh37)
- Canonical SPDI:
- NC_000018.10:12223150:T:G
- Gene:
- C18orf61 (Varview)
- Functional Consequence:
- non_coding_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:
13.
rs1490121703 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 18:12209243
(GRCh38)
18:12209242
(GRCh37)
- Canonical SPDI:
- NC_000018.10:12209242:G:A
- Gene:
- C18orf61 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
14.
rs1490064733 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 18:12224041
(GRCh38)
18:12224040
(GRCh37)
- Canonical SPDI:
- NC_000018.10:12224040:T:A,NC_000018.10:12224040:T:C
- Gene:
- C18orf61 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
15.
rs1490001863 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 18:12216899
(GRCh38)
18:12216898
(GRCh37)
- Canonical SPDI:
- NC_000018.10:12216898:A:G
- Gene:
- C18orf61 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000014/2
(GnomAD)
- HGVS:
16.
rs1489972410 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 18:12212937
(GRCh38)
18:12212936
(GRCh37)
- Canonical SPDI:
- NC_000018.10:12212936:C:A
- Gene:
- C18orf61 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000014/2
(GnomAD)
A=0.00463/1
(Vietnamese)
- HGVS:
17.
rs1489549271 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 18:12209849
(GRCh38)
18:12209848
(GRCh37)
- Canonical SPDI:
- NC_000018.10:12209848:C:G
- Gene:
- C18orf61 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
18.
rs1489527496 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 18:12224299
(GRCh38)
18:12224298
(GRCh37)
- Canonical SPDI:
- NC_000018.10:12224298:C:T
- Gene:
- C18orf61 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
T=0.000342/1
(KOREAN)
T=0.000568/1
(Korea1K)
- HGVS:
19.
rs1489329755 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,G
[Show Flanks]
- Chromosome:
- 18:12203442
(GRCh38)
18:12203441
(GRCh37)
- Canonical SPDI:
- NC_000018.10:12203441:T:A,NC_000018.10:12203441:T:G
- Gene:
- C18orf61 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
G=0.000266/15
(GnomAD)
G=0.000312/2
(1000Genomes)
- HGVS:
20.
rs1489010116 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 18:12203036
(GRCh38)
18:12203035
(GRCh37)
- Canonical SPDI:
- NC_000018.10:12203035:G:A
- Gene:
- C18orf61 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.00003/2
(GnomAD)
- HGVS: