Links from Nucleotide
Items: 1 to 20 of 216
1.
rs1489154607 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 2:16085688
(GRCh38)
2:16225810
(GRCh37)
- Canonical SPDI:
- NC_000002.12:16085687:C:G,NC_000002.12:16085687:C:T
- Gene:
- GACAT3 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
2.
rs1487299215 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:16085589
(GRCh38)
2:16225711
(GRCh37)
- Canonical SPDI:
- NC_000002.12:16085588:A:G
- Gene:
- GACAT3 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000015/4
(TOPMED)
G=0.000021/3
(GnomAD)
- HGVS:
3.
rs1482452512 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 2:16085322
(GRCh38)
2:16225444
(GRCh37)
- Canonical SPDI:
- NC_000002.12:16085321:A:C
- Gene:
- GACAT3 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000019/5
(TOPMED)
- HGVS:
4.
rs1477724155 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:16081006
(GRCh38)
2:16221128
(GRCh37)
- Canonical SPDI:
- NC_000002.12:16081005:A:G
- Gene:
- GACAT3 (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=0.000014/2
(GnomAD)
- HGVS:
5.
rs1477611219 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 2:16085296
(GRCh38)
2:16225418
(GRCh37)
- Canonical SPDI:
- NC_000002.12:16085295:C:G,NC_000002.12:16085295:C:T
- Gene:
- GACAT3 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
6.
rs1476170384 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:16085386
(GRCh38)
2:16225508
(GRCh37)
- Canonical SPDI:
- NC_000002.12:16085385:A:G
- Gene:
- GACAT3 (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:
7.
rs1475311780 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:16081084
(GRCh38)
2:16221206
(GRCh37)
- Canonical SPDI:
- NC_000002.12:16081083:C:T
- Gene:
- GACAT3 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
8.
rs1467287389 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:16050513
(GRCh38)
2:16190635
(GRCh37)
- Canonical SPDI:
- NC_000002.12:16050512:G:A
- Gene:
- GACAT3 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000011/3
(TOPMED)
A=0.000035/1
(TOMMO)
- HGVS:
9.
rs1465339405 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:16085381
(GRCh38)
2:16225503
(GRCh37)
- Canonical SPDI:
- NC_000002.12:16085380:A:G
- Gene:
- GACAT3 (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:
10.
rs1461136984 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:16050548
(GRCh38)
2:16190670
(GRCh37)
- Canonical SPDI:
- NC_000002.12:16050547:G:A
- Gene:
- GACAT3 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
11.
rs1456793210 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 2:16050677
(GRCh38)
2:16190799
(GRCh37)
- Canonical SPDI:
- NC_000002.12:16050676:G:T
- Gene:
- GACAT3 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
12.
rs1451310725 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 2:16080904
(GRCh38)
2:16221026
(GRCh37)
- Canonical SPDI:
- NC_000002.12:16080903:A:C
- Gene:
- GACAT3 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000342/1
(KOREAN)
- HGVS:
13.
rs1448382816 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 2:16080917
(GRCh38)
2:16221039
(GRCh37)
- Canonical SPDI:
- NC_000002.12:16080916:A:T
- Gene:
- GACAT3 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000224/1
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000223/1
(Estonian)
- HGVS:
14.
rs1448249115 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:16085605
(GRCh38)
2:16225727
(GRCh37)
- Canonical SPDI:
- NC_000002.12:16085604:T:C
- Gene:
- GACAT3 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
15.
rs1446169805 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 2:16085509
(GRCh38)
2:16225631
(GRCh37)
- Canonical SPDI:
- NC_000002.12:16085508:A:T
- Gene:
- GACAT3 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000156/1
(1000Genomes)
- HGVS:
16.
rs1443406841 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:16050454
(GRCh38)
2:16190576
(GRCh37)
- Canonical SPDI:
- NC_000002.12:16050453:A:G
- Gene:
- GACAT3 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
17.
rs1443202070 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 2:16081037
(GRCh38)
2:16221160
(GRCh37)
- Canonical SPDI:
- NC_000002.12:16081037::A
- Gene:
- GACAT3 (Varview)
- Functional Consequence:
- 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:
18.
rs1434357934 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:16085430
(GRCh38)
2:16225552
(GRCh37)
- Canonical SPDI:
- NC_000002.12:16085429:C:T
- Gene:
- GACAT3 (Varview)
- Functional Consequence:
- non_coding_transcript_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.
rs1432495288 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 2:16081071
(GRCh38)
2:16221193
(GRCh37)
- Canonical SPDI:
- NC_000002.12:16081070:G:T
- Gene:
- GACAT3 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
20.
rs1431145779 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:16085671
(GRCh38)
2:16225793
(GRCh37)
- Canonical SPDI:
- NC_000002.12:16085670:T:C
- Gene:
- GACAT3 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS: