Links from Nucleotide
Items: 1 to 20 of 2894
1.
rs1491056611 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CA,CACA
[Show Flanks]
- Chromosome:
- 1:22643378
(GRCh38)
1:22969872
(GRCh37)
- Canonical SPDI:
- NC_000001.11:22643378:A:ACA,NC_000001.11:22643378:A:ACACA
- Gene:
- C1QC (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACA=0./0
(
ALFA)
AC=0.00031/2
(1000Genomes)
- HGVS:
2.
rs1490703705 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:22646361
(GRCh38)
1:22972854
(GRCh37)
- Canonical SPDI:
- NC_000001.11:22646360:A:G
- Gene:
- C1QC (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
4.
rs1490212439 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 1:22645831
(GRCh38)
1:22972324
(GRCh37)
- Canonical SPDI:
- NC_000001.11:22645830:C:G
- Gene:
- C1QC (Varview)
- Functional Consequence:
- 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:
5.
rs1489976751 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 1:22638772
(GRCh38)
1:22965265
(GRCh37)
- Canonical SPDI:
- NC_000001.11:22638771:C:G,NC_000001.11:22638771:C:T
- Gene:
- C1QA (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
G=0.000035/1
(TOMMO)
G=0.000684/2
(KOREAN)
- HGVS:
6.
rs1489752808 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 1:22641656
(GRCh38)
1:22968149
(GRCh37)
- Canonical SPDI:
- NC_000001.11:22641655:A:C
- Gene:
- C1QC (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000108/2
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000036/5
(GnomAD)
C=0.000223/1
(Estonian)
- HGVS:
7.
rs1489102612 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:22639633
(GRCh38)
1:22966126
(GRCh37)
- Canonical SPDI:
- NC_000001.11:22639632:G:A
- Gene:
- C1QA (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
NC_000001.11:g.22639633G>A, NC_000001.10:g.22966126G>A, NG_007565.1:g.1009G>A, NG_007282.1:g.8009G>A, NM_015991.4:c.*226G>A, NM_015991.3:c.*226G>A, NM_015991.2:c.*226G>A, NM_001347466.2:c.*226G>A, NM_001347466.1:c.*226G>A, NM_001347465.2:c.*226G>A, NM_001347465.1:c.*226G>A
8.
rs1489030018 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 1:22643825
(GRCh38)
1:22970318
(GRCh37)
- Canonical SPDI:
- NC_000001.11:22643824:G:T
- Gene:
- C1QC (Varview)
- Functional Consequence:
- intron_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
9.
rs1488680948 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:22644948
(GRCh38)
1:22971441
(GRCh37)
- Canonical SPDI:
- NC_000001.11:22644947:T:C
- Gene:
- C1QC (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
10.
rs1488446734 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 1:22643480
(GRCh38)
1:22969973
(GRCh37)
- Canonical SPDI:
- NC_000001.11:22643479:G:C
- Gene:
- C1QC (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
11.
rs1488313678 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:22644387
(GRCh38)
1:22970880
(GRCh37)
- Canonical SPDI:
- NC_000001.11:22644386:G:A
- Gene:
- C1QC (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000019/5
(TOPMED)
- HGVS:
12.
rs1488313264 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 1:22643918
(GRCh38)
1:22970411
(GRCh37)
- Canonical SPDI:
- NC_000001.11:22643917:C:A,NC_000001.11:22643917:C:T
- Gene:
- C1QC (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000021/3
(GnomAD)
- HGVS:
13.
rs1488016057 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:22642902
(GRCh38)
1:22969395
(GRCh37)
- Canonical SPDI:
- NC_000001.11:22642901:G:A
- Gene:
- C1QC (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
14.
rs1487638947 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 1:22640772
(GRCh38)
1:22967265
(GRCh37)
- Canonical SPDI:
- NC_000001.11:22640771:C:A
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
15.
rs1487467114 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:22643187
(GRCh38)
1:22969680
(GRCh37)
- Canonical SPDI:
- NC_000001.11:22643186:C:T
- Gene:
- C1QC (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
- HGVS:
17.
rs1486867307 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 1:22642359
(GRCh38)
1:22968852
(GRCh37)
- Canonical SPDI:
- NC_000001.11:22642358:G:T
- Gene:
- C1QC (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
18.
rs1486724018 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 1:22645856
(GRCh38)
1:22972349
(GRCh37)
- Canonical SPDI:
- NC_000001.11:22645855:A:T
- Gene:
- C1QC (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
19.
rs1486665638 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- A>-
[Show Flanks]
- Chromosome:
- 1:22643261
(GRCh38)
1:22969754
(GRCh37)
- Canonical SPDI:
- NC_000001.11:22643260:AA:A
- Gene:
- C1QC (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AA=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
-=0.000014/2
(GnomAD)
- HGVS:
20.
rs1486595229 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:22648978
(GRCh38)
1:22975471
(GRCh37)
- Canonical SPDI:
- NC_000001.11:22648977:T:C
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000014/2
(GnomAD)
C=0.000156/1
(1000Genomes)
- HGVS: