Links from Nucleotide
Items: 1 to 20 of 155
1.
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:
2.
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:
3.
rs1476564576 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 10:49296622
(GRCh38)
10:50504667
(GRCh37)
- Canonical SPDI:
- NC_000010.11:49296621: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
- MAF:
A=0.000071/1
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
4.
rs1469719750 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 10:49296594
(GRCh38)
10:50504639
(GRCh37)
- Canonical SPDI:
- NC_000010.11:49296593: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,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
C=0.000014/2
(GnomAD)
C=0.000342/1
(KOREAN)
C=0.001345/23
(TOMMO)
- HGVS:
5.
rs1468237796 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 10:49296720
(GRCh38)
10:50504765
(GRCh37)
- Canonical SPDI:
- NC_000010.11:49296719:T:A,NC_000010.11:49296719:T: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:
6.
rs1466465558 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTAG>-
[Show Flanks]
- Chromosome:
- 10:49296303
(GRCh38)
10:50504348
(GRCh37)
- Canonical SPDI:
- NC_000010.11:49296300:AGTTAG:AG
- 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:
AG=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
7.
rs1460197376 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CATTCACAT
[Show Flanks]
- Chromosome:
- 10:49296571
(GRCh38)
10:50504617
(GRCh37)
- Canonical SPDI:
- NC_000010.11:49296571:TCATTCACAT:TCATTCACATCATTCACAT
- 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:
TCATTCACATCATTCACAT=0.000169/2
(
ALFA)
TCATTCACA=0.000135/19
(GnomAD)
TCATTCACA=0.000162/43
(TOPMED)
- HGVS:
8.
rs1457487255 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 10:49298874
(GRCh38)
10:50506919
(GRCh37)
- Canonical SPDI:
- NC_000010.11:49298873:T:C
- Gene:
- C10orf71 (Varview), C10orf71-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
9.
rs1454406299 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 10:49298694
(GRCh38)
10:50506739
(GRCh37)
- Canonical SPDI:
- NC_000010.11:49298693:C:T
- Gene:
- C10orf71 (Varview), C10orf71-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000015/4
(TOPMED)
T=0.000021/3
(GnomAD)
- HGVS:
10.
rs1452831246 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 10:49298826
(GRCh38)
10:50506871
(GRCh37)
- Canonical SPDI:
- NC_000010.11:49298825:C:A,NC_000010.11:49298825:C:T
- Gene:
- C10orf71 (Varview), C10orf71-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.00007/1
(
ALFA)
T=0.00022/1
(Estonian)
- HGVS:
11.
rs1451911795 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 10:49296623
(GRCh38)
10:50504668
(GRCh37)
- Canonical SPDI:
- NC_000010.11:49296622:G:A,NC_000010.11:49296622:G:C
- Gene:
- C10orf71 (Varview), C10orf71-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000014/2
(GnomAD)
C=0.000318/5
(TOMMO)
A=0.000342/1
(KOREAN)
- HGVS:
12.
rs1451308495 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 10:49296333
(GRCh38)
10:50504378
(GRCh37)
- Canonical SPDI:
- NC_000010.11:49296332:G:A
- Gene:
- C10orf71 (Varview), C10orf71-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
13.
rs1446132091 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 10:49296747
(GRCh38)
10:50504792
(GRCh37)
- Canonical SPDI:
- NC_000010.11:49296746:T:A
- Gene:
- C10orf71 (Varview), C10orf71-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
14.
rs1442977313 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 10:49296368
(GRCh38)
10:50504413
(GRCh37)
- Canonical SPDI:
- NC_000010.11:49296367:G:A
- Gene:
- C10orf71 (Varview), C10orf71-AS1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000224/1
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000223/1
(Estonian)
- HGVS:
15.
rs1441136073 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 10:49298811
(GRCh38)
10:50506856
(GRCh37)
- Canonical SPDI:
- NC_000010.11:49298810:G:T
- Gene:
- C10orf71 (Varview), C10orf71-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
- HGVS:
16.
rs1439263764 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 10:49298704
(GRCh38)
10:50506749
(GRCh37)
- Canonical SPDI:
- NC_000010.11:49298703:G:A
- Gene:
- C10orf71 (Varview), C10orf71-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000021/3
(GnomAD)
- HGVS:
17.
rs1437254420 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 10:49296507
(GRCh38)
10:50504552
(GRCh37)
- Canonical SPDI:
- NC_000010.11:49296506:T:C
- Gene:
- C10orf71 (Varview), C10orf71-AS1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,non_coding_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:
18.
rs1434949330 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 10:49298785
(GRCh38)
10:50506830
(GRCh37)
- Canonical SPDI:
- NC_000010.11:49298784:G:T
- Gene:
- C10orf71 (Varview), C10orf71-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
19.
rs1434448541 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 10:49298760
(GRCh38)
10:50506805
(GRCh37)
- Canonical SPDI:
- NC_000010.11:49298759:A:T
- Gene:
- C10orf71 (Varview), C10orf71-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
- HGVS:
20.
rs1426585946 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 10:49296671
(GRCh38)
10:50504716
(GRCh37)
- Canonical SPDI:
- NC_000010.11:49296670:T:G
- Gene:
- C10orf71 (Varview), C10orf71-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000014/2
(GnomAD)
G=0.000015/4
(TOPMED)
T=0.5/1
(SGDP_PRJ)
- HGVS: