Links from Gene
Items: 1 to 20 of 1120
1.
rs1491064199 has merged into rs60669434 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 10:49300471
(GRCh38)
10:50508516
(GRCh37)
- Canonical SPDI:
- NC_000010.11:49300461:AAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000010.11:49300461:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000010.11:49300461:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000010.11:49300461:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000010.11:49300461:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000010.11:49300461:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:49300461:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000010.11:49300461:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000010.11:49300461:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000010.11:49300461:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000010.11:49300461:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000010.11:49300461:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000010.11:49300461:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:49300461:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:49300461:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:49300461:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:49300461:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- C10orf71 (Varview), C10orf71-AS1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAA=0./0
(
ALFA)
-=0.2496/1250
(1000Genomes)
- HGVS:
NC_000010.11:g.49300471_49300480del, NC_000010.11:g.49300472_49300480del, NC_000010.11:g.49300473_49300480del, NC_000010.11:g.49300474_49300480del, NC_000010.11:g.49300475_49300480del, NC_000010.11:g.49300476_49300480del, NC_000010.11:g.49300477_49300480del, NC_000010.11:g.49300478_49300480del, NC_000010.11:g.49300479_49300480del, NC_000010.11:g.49300480del, NC_000010.11:g.49300480dup, NC_000010.11:g.49300479_49300480dup, NC_000010.11:g.49300478_49300480dup, NC_000010.11:g.49300477_49300480dup, NC_000010.11:g.49300476_49300480dup, NC_000010.11:g.49300475_49300480dup, NC_000010.11:g.49300474_49300480dup, NC_000010.10:g.50508516_50508525del, NC_000010.10:g.50508517_50508525del, NC_000010.10:g.50508518_50508525del, NC_000010.10:g.50508519_50508525del, NC_000010.10:g.50508520_50508525del, NC_000010.10:g.50508521_50508525del, NC_000010.10:g.50508522_50508525del, NC_000010.10:g.50508523_50508525del, NC_000010.10:g.50508524_50508525del, NC_000010.10:g.50508525del, NC_000010.10:g.50508525dup, NC_000010.10:g.50508524_50508525dup, NC_000010.10:g.50508523_50508525dup, NC_000010.10:g.50508522_50508525dup, NC_000010.10:g.50508521_50508525dup, NC_000010.10:g.50508520_50508525dup, NC_000010.10:g.50508519_50508525dup
2.
rs1490642510 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 10:49299495
(GRCh38)
10:50507540
(GRCh37)
- Canonical SPDI:
- NC_000010.11:49299494:G:A
- Gene:
- C10orf71 (Varview), C10orf71-AS1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000094/1
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
3.
rs1490320085 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GAA>-
[Show Flanks]
- Chromosome:
- 10:49296089
(GRCh38)
10:50504134
(GRCh37)
- Canonical SPDI:
- NC_000010.11:49296085:GAAGAA:GAA
- Gene:
- C10orf71 (Varview), C10orf71-AS1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
GAAGAA=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
4.
rs1489857642 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 10:49295857
(GRCh38)
10:50503902
(GRCh37)
- Canonical SPDI:
- NC_000010.11:49295856:T:G
- Gene:
- C10orf71 (Varview), C10orf71-AS1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
6.
rs1489386500 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 10:49300222
(GRCh38)
10:50508267
(GRCh37)
- Canonical SPDI:
- NC_000010.11:49300221:T:A
- Gene:
- C10orf71 (Varview), C10orf71-AS1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
7.
rs1488318081 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 10:49298193
(GRCh38)
10:50506238
(GRCh37)
- Canonical SPDI:
- NC_000010.11:49298192:A:G
- Gene:
- C10orf71 (Varview), C10orf71-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
8.
rs1487922598 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 10:49298148
(GRCh38)
10:50506193
(GRCh37)
- Canonical SPDI:
- NC_000010.11:49298147:G:A
- Gene:
- C10orf71 (Varview), C10orf71-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000071/1
(
ALFA)
A=0.000011/3
(TOPMED)
- HGVS:
9.
rs1487438969 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 10:49298438
(GRCh38)
10:50506483
(GRCh37)
- Canonical SPDI:
- NC_000010.11:49298437:T:A,NC_000010.11:49298437:T:C
- Gene:
- C10orf71 (Varview), C10orf71-AS1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
10.
rs1486911644 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 10:49297987
(GRCh38)
10:50506032
(GRCh37)
- Canonical SPDI:
- NC_000010.11:49297986:T:C
- Gene:
- C10orf71 (Varview), C10orf71-AS1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
C=0.000029/4
(GnomAD)
- HGVS:
12.
rs1485101389 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 10:49300341
(GRCh38)
10:50508386
(GRCh37)
- Canonical SPDI:
- NC_000010.11:49300340:T:C
- Gene:
- C10orf71 (Varview), C10orf71-AS1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000015/4
(TOPMED)
C=0.000342/1
(KOREAN)
- HGVS:
13.
rs1483977034 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 10:49296523
(GRCh38)
10:50504568
(GRCh37)
- Canonical SPDI:
- NC_000010.11:49296522:G:A
- Gene:
- C10orf71 (Varview), C10orf71-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000015/4
(TOPMED)
- HGVS:
14.
rs1483966004 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 10:49295904
(GRCh38)
10:50503949
(GRCh37)
- Canonical SPDI:
- NC_000010.11:49295903:G:A
- Gene:
- C10orf71 (Varview), C10orf71-AS1 (Varview)
- Functional Consequence:
- downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
15.
rs1482886567 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 10:49297335
(GRCh38)
10:50505380
(GRCh37)
- Canonical SPDI:
- NC_000010.11:49297334:A:G
- Gene:
- C10orf71 (Varview), C10orf71-AS1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
16.
rs1482466296 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 10:49298944
(GRCh38)
10:50506989
(GRCh37)
- Canonical SPDI:
- NC_000010.11:49298943:T:A
- Gene:
- C10orf71 (Varview), C10orf71-AS1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0./0
(GnomAD)
- HGVS:
17.
rs1481934442 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 10:49298509
(GRCh38)
10:50506554
(GRCh37)
- Canonical SPDI:
- NC_000010.11:49298508:C:A
- Gene:
- C10orf71 (Varview), C10orf71-AS1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
18.
rs1480428347 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 10:49296154
(GRCh38)
10:50504199
(GRCh37)
- Canonical SPDI:
- NC_000010.11:49296153:C:T
- Gene:
- C10orf71 (Varview), C10orf71-AS1 (Varview)
- Functional Consequence:
- downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
19.
rs1479384801 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 10:49300446
(GRCh38)
10:50508491
(GRCh37)
- Canonical SPDI:
- NC_000010.11:49300445:T:A
- Gene:
- C10orf71 (Varview), C10orf71-AS1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000084/1
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
20.
rs1478253650 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 10:49296732
(GRCh38)
10:50504777
(GRCh37)
- Canonical SPDI:
- NC_000010.11:49296731:G:A,NC_000010.11:49296731:G:C
- Gene:
- C10orf71 (Varview), C10orf71-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS: