Links from Gene
Items: 1 to 20 of 868
2.
rs1491118081 has merged into rs1424413830 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AG>-,AGAG
[Show Flanks]
- Chromosome:
- 9:61854582
(GRCh38)
9:44990734
(GRCh37)
- Canonical SPDI:
- NC_000009.12:61854580:GAG:G,NC_000009.12:61854580:GAG:GAGAG
- Gene:
- FAM27C (Varview), FAM27E4 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GAGAG=0./0
(
ALFA)
-=0.0033/53
(TOMMO)
-=0.01024/18
(Korea1K)
- HGVS:
3.
rs1490750962 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- T>-
[Show Flanks]
- Chromosome:
- 9:61852542
(GRCh38)
9:44988694
(GRCh37)
- Canonical SPDI:
- NC_000009.12:61852541:TT:T
- Gene:
- FAM27C (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
TT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
4.
rs1490682679 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:61854066
(GRCh38)
9:44990218
(GRCh37)
- Canonical SPDI:
- NC_000009.12:61854065:G:A
- Gene:
- FAM27C (Varview), FAM27E4 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.00005/7
(GnomAD)
- HGVS:
5.
rs1489866748 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 9:61854238
(GRCh38)
9:44990390
(GRCh37)
- Canonical SPDI:
- NC_000009.12:61854237:C:A,NC_000009.12:61854237:C:T
- Gene:
- FAM27C (Varview), FAM27E4 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
T=0.000031/4
(GnomAD)
- HGVS:
8.
rs1487049413 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C,T
[Show Flanks]
- Chromosome:
- 9:61854765
(GRCh38)
9:44990917
(GRCh37)
- Canonical SPDI:
- NC_000009.12:61854764:G:C,NC_000009.12:61854764:G:T
- Gene:
- FAM27C (Varview), FAM27E4 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.00043/7
(
ALFA)
C=0.00016/4
(TOMMO)
C=0.00824/24
(KOREAN)
- HGVS:
9.
rs1486553498 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 9:61854820
(GRCh38)
9:44990972
(GRCh37)
- Canonical SPDI:
- NC_000009.12:61854819:T:A,NC_000009.12:61854819:T:C
- Gene:
- FAM27C (Varview), FAM27E4 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.00208/34
(
ALFA)
C=0.00764/22
(KOREAN)
- HGVS:
11.
rs1484808578 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 9:61852313
(GRCh38)
9:44988465
(GRCh37)
- Canonical SPDI:
- NC_000009.12:61852312:A:G
- Gene:
- FAM27C (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000084/1
(
ALFA)
G=0.000038/5
(GnomAD)
- HGVS:
12.
rs1484610343 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 9:61854380
(GRCh38)
9:44990532
(GRCh37)
- Canonical SPDI:
- NC_000009.12:61854379:A:G
- Gene:
- FAM27C (Varview), FAM27E4 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.11024/1482
(
ALFA)
G=0.03919/251
(1000Genomes)
G=0.08478/6368
(GnomAD)
G=0.12176/2041
(TOMMO)
A=0.5/1
(SGDP_PRJ)
- HGVS:
13.
rs1483733429 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CTCTGTGTGTGTGTGTGTGTGT>-
[Show Flanks]
- Chromosome:
- 9:61854555
(GRCh38)
9:44990707
(GRCh37)
- Canonical SPDI:
- NC_000009.12:61854543:TGTGTGTGTGTCTCTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGT
- Gene:
- FAM27C (Varview), FAM27E4 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGTGTGTGT=0.00059/7
(
ALFA)
-=0.00054/47
(GnomAD)
- HGVS:
14.
rs1483609396 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C,T
[Show Flanks]
- Chromosome:
- 9:61854298
(GRCh38)
9:44990450
(GRCh37)
- Canonical SPDI:
- NC_000009.12:61854297:G:A,NC_000009.12:61854297:G:C,NC_000009.12:61854297:G:T
- Gene:
- FAM27C (Varview), FAM27E4 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.0025/4
(Korea1K)
C=0.0628/554
(TOMMO)
A=0.125/2
(SGDP_PRJ)
C=0.2357/568
(KOREAN)
C=0.3436/771
(GnomAD_exomes)
- HGVS:
NC_000009.12:g.61854298G>A, NC_000009.12:g.61854298G>C, NC_000009.12:g.61854298G>T, NC_000009.11:g.44990450G>A, NC_000009.11:g.44990450G>C, NC_000009.11:g.44990450G>T, NR_024060.3:n.215G>A, NR_024060.3:n.215G>C, NR_024060.3:n.215G>T, NR_027421.1:n.215G>A, NR_027421.1:n.215G>C, NR_027421.1:n.215G>T
15.
rs1483201289 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:61853758
(GRCh38)
9:44989910
(GRCh37)
- Canonical SPDI:
- NC_000009.12:61853757:C:T
- Gene:
- FAM27C (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.0016/19
(
ALFA)
T=0.00144/77
(GnomAD)
T=0.00422/27
(1000Genomes)
- HGVS:
16.
rs1482879433 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 9:61852146
(GRCh38)
9:44988298
(GRCh37)
- Canonical SPDI:
- NC_000009.12:61852145:T:C
- Gene:
- FAM27C (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.000084/1
(
ALFA)
C=0.000033/4
(GnomAD)
- HGVS:
17.
rs1482746373 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 9:61853931
(GRCh38)
9:44990083
(GRCh37)
- Canonical SPDI:
- NC_000009.12:61853930:G:C
- Gene:
- FAM27C (Varview), FAM27E4 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000032/4
(GnomAD)
- HGVS:
18.
rs1482138493 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 9:61854214
(GRCh38)
9:44990366
(GRCh37)
- Canonical SPDI:
- NC_000009.12:61854213:C:G,NC_000009.12:61854213:C:T
- Gene:
- FAM27C (Varview), FAM27E4 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.003/49
(
ALFA)
C=0./0
(SGDP_PRJ)
G=0.00112/2
(Korea1K)
T=0.02411/404
(TOMMO)
T=0.02513/70
(KOREAN)
- HGVS:
19.
rs1481234457 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:61854105
(GRCh38)
9:44990257
(GRCh37)
- Canonical SPDI:
- NC_000009.12:61854104:G:A
- Gene:
- FAM27C (Varview), FAM27E4 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
- HGVS: