Links from Nucleotide
Items: 1 to 20 of 516
1.
rs1490686932 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 8:101994307
(GRCh38)
8:103006535
(GRCh37)
- Canonical SPDI:
- NC_000008.11:101994306:G:A
- Gene:
- NCALD (Varview), LOC104054148 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
2.
rs1490561915 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 8:101985110
(GRCh38)
8:102997338
(GRCh37)
- Canonical SPDI:
- NC_000008.11:101985109:C:A
- Gene:
- NCALD (Varview), LOC104054148 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000094/1
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
3.
rs1490241261 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- T>-
[Show Flanks]
- Chromosome:
- 8:101987410
(GRCh38)
8:102999638
(GRCh37)
- Canonical SPDI:
- NC_000008.11:101987409:T:
- Gene:
- NCALD (Varview), LOC104054148 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
-=0.000029/4
(GnomAD)
- HGVS:
4.
rs1489516505 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TATC
[Show Flanks]
- Chromosome:
- 8:101987513
(GRCh38)
8:102999742
(GRCh37)
- Canonical SPDI:
- NC_000008.11:101987513:TATC:TATCTATC
- Gene:
- NCALD (Varview), LOC104054148 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
TATCTATC=0./0
(
ALFA)
TATC=0.000004/1
(TOPMED)
- HGVS:
5.
rs1487974833 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 8:101994817
(GRCh38)
8:103007045
(GRCh37)
- Canonical SPDI:
- NC_000008.11:101994816:C:G
- Gene:
- NCALD (Varview), LOC104054148 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
6.
rs1487355371 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 8:101985282
(GRCh38)
8:102997511
(GRCh37)
- Canonical SPDI:
- NC_000008.11:101985282:CCCCCC:CCCCCCC
- Gene:
- NCALD (Varview), LOC104054148 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CCCCCCC=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000022/3
(GnomAD)
- HGVS:
7.
rs1481200885 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 8:101994399
(GRCh38)
8:103006627
(GRCh37)
- Canonical SPDI:
- NC_000008.11:101994398:C:T
- Gene:
- NCALD (Varview), LOC104054148 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
C=0.5/1
(SGDP_PRJ)
- HGVS:
8.
rs1480597176 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 8:101984966
(GRCh38)
8:102997194
(GRCh37)
- Canonical SPDI:
- NC_000008.11:101984965:A:T
- Gene:
- NCALD (Varview), LOC104054148 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000015/4
(TOPMED)
- HGVS:
9.
rs1478428697 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 8:101987466
(GRCh38)
8:102999694
(GRCh37)
- Canonical SPDI:
- NC_000008.11:101987465:G:C
- Gene:
- NCALD (Varview), LOC104054148 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
10.
rs1476957917 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 8:101984799
(GRCh38)
8:102997027
(GRCh37)
- Canonical SPDI:
- NC_000008.11:101984798:T:C
- Gene:
- NCALD (Varview), LOC104054148 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
11.
rs1476358271 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 8:101984475
(GRCh38)
8:102996703
(GRCh37)
- Canonical SPDI:
- NC_000008.11:101984474:T:C
- Gene:
- NCALD (Varview), LOC104054148 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
12.
rs1476309331 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 8:101987216
(GRCh38)
8:102999444
(GRCh37)
- Canonical SPDI:
- NC_000008.11:101987215:T:G
- Gene:
- NCALD (Varview), LOC104054148 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
13.
rs1473273673 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 8:101987500
(GRCh38)
8:102999728
(GRCh37)
- Canonical SPDI:
- NC_000008.11:101987499:C:A,NC_000008.11:101987499:C:T
- Gene:
- NCALD (Varview), LOC104054148 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
T=0.000035/1
(TOMMO)
- HGVS:
14.
rs1472651034 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 8:101994194
(GRCh38)
8:103006422
(GRCh37)
- Canonical SPDI:
- NC_000008.11:101994193:A:T
- Gene:
- NCALD (Varview), LOC104054148 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
15.
rs1471431602 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 8:101987716
(GRCh38)
8:102999944
(GRCh37)
- Canonical SPDI:
- NC_000008.11:101987715:T:C
- Gene:
- NCALD (Varview), LOC104054148 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000011/3
(TOPMED)
- HGVS:
16.
rs1471200051 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTGAAGCTTCT>-
[Show Flanks]
- Chromosome:
- 8:101994522
(GRCh38)
8:103006750
(GRCh37)
- Canonical SPDI:
- NC_000008.11:101994516:CTTCTGTGAAGCTTCT:CTTCT
- Gene:
- NCALD (Varview), LOC104054148 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
CTTCT=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
- HGVS:
17.
rs1470378595 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 8:101984598
(GRCh38)
8:102996826
(GRCh37)
- Canonical SPDI:
- NC_000008.11:101984597:T:G
- Gene:
- NCALD (Varview), LOC104054148 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
18.
rs1469455365 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- 8:101984482
(GRCh38)
8:102996710
(GRCh37)
- Canonical SPDI:
- NC_000008.11:101984481:C:
- Gene:
- NCALD (Varview), LOC104054148 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
19.
rs1469130991 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 8:101994836
(GRCh38)
8:103007064
(GRCh37)
- Canonical SPDI:
- NC_000008.11:101994835:T:C
- Gene:
- NCALD (Varview), LOC104054148 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency
- MAF:
C=0.000007/1
(GnomAD)
- HGVS:
20.
rs1468517175 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 8:101985165
(GRCh38)
8:102997393
(GRCh37)
- Canonical SPDI:
- NC_000008.11:101985164:A:G
- Gene:
- NCALD (Varview), LOC104054148 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS: