Links from Nucleotide
Items: 1 to 20 of 3547
1.
rs1491564498 has merged into rs57176480 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CC>-,C,CCC,CCCC,CCCCC,CCCCCC
[Show Flanks]
- Chromosome:
- 1:26040925
(GRCh38)
1:26367416
(GRCh37)
- Canonical SPDI:
- NC_000001.11:26040916:CCCCCCCCCC:CCCCCCCC,NC_000001.11:26040916:CCCCCCCCCC:CCCCCCCCC,NC_000001.11:26040916:CCCCCCCCCC:CCCCCCCCCCC,NC_000001.11:26040916:CCCCCCCCCC:CCCCCCCCCCCC,NC_000001.11:26040916:CCCCCCCCCC:CCCCCCCCCCCCC,NC_000001.11:26040916:CCCCCCCCCC:CCCCCCCCCCCCCC
- Gene:
- SLC30A2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CCCCCCCCCCC=0.0002/1
(
ALFA)
C=0.1863/933
(1000Genomes)
- HGVS:
NC_000001.11:g.26040925_26040926del, NC_000001.11:g.26040926del, NC_000001.11:g.26040926dup, NC_000001.11:g.26040925_26040926dup, NC_000001.11:g.26040924_26040926dup, NC_000001.11:g.26040923_26040926dup, NC_000001.10:g.26367416_26367417del, NC_000001.10:g.26367417del, NC_000001.10:g.26367417dup, NC_000001.10:g.26367416_26367417dup, NC_000001.10:g.26367415_26367417dup, NC_000001.10:g.26367414_26367417dup, NG_042808.1:g.10221_10222del, NG_042808.1:g.10222del, NG_042808.1:g.10222dup, NG_042808.1:g.10221_10222dup, NG_042808.1:g.10220_10222dup, NG_042808.1:g.10219_10222dup
2.
rs1491341443 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->ACC,GCC
[Show Flanks]
- Chromosome:
- 1:26040916
(GRCh38)
1:26367408
(GRCh37)
- Canonical SPDI:
- NC_000001.11:26040916:C:CACC,NC_000001.11:26040916:C:CGCC
- Gene:
- SLC30A2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
CGCC=0./0
(
ALFA)
CGC=0.000059/8
(GnomAD)
- HGVS:
3.
rs1491278393 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A,G
[Show Flanks]
- Chromosome:
- 1:26040919
(GRCh38)
1:26367411
(GRCh37)
- Canonical SPDI:
- NC_000001.11:26040919::A,NC_000001.11:26040919::G
- Gene:
- SLC30A2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
A=0.000029/4
(GnomAD)
- HGVS:
4.
rs1491009596 has merged into rs35565258 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA
[Show Flanks]
- Chromosome:
- 1:26048323
(GRCh38)
1:26374814
(GRCh37)
- Canonical SPDI:
- NC_000001.11:26048307:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:26048307:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:26048307:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:26048307:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:26048307:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:26048307:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:26048307:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:26048307:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- LOC105376910 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAAA=0./0
(
ALFA)
-=0.16693/836
(1000Genomes)
- HGVS:
NC_000001.11:g.26048323_26048326del, NC_000001.11:g.26048324_26048326del, NC_000001.11:g.26048325_26048326del, NC_000001.11:g.26048326del, NC_000001.11:g.26048326dup, NC_000001.11:g.26048325_26048326dup, NC_000001.11:g.26048324_26048326dup, NC_000001.11:g.26048323_26048326dup, NC_000001.10:g.26374814_26374817del, NC_000001.10:g.26374815_26374817del, NC_000001.10:g.26374816_26374817del, NC_000001.10:g.26374817del, NC_000001.10:g.26374817dup, NC_000001.10:g.26374816_26374817dup, NC_000001.10:g.26374815_26374817dup, NC_000001.10:g.26374814_26374817dup, NG_042808.1:g.2828_2831del, NG_042808.1:g.2829_2831del, NG_042808.1:g.2830_2831del, NG_042808.1:g.2831del, NG_042808.1:g.2831dup, NG_042808.1:g.2830_2831dup, NG_042808.1:g.2829_2831dup, NG_042808.1:g.2828_2831dup, XR_001737948.2:n.66_69del, XR_001737948.2:n.67_69del, XR_001737948.2:n.68_69del, XR_001737948.2:n.69del, XR_001737948.2:n.69dup, XR_001737948.2:n.68_69dup, XR_001737948.2:n.67_69dup, XR_001737948.2:n.66_69dup, XR_001737948.1:n.66_69del, XR_001737948.1:n.67_69del, XR_001737948.1:n.68_69del, XR_001737948.1:n.69del, XR_001737948.1:n.69dup, XR_001737948.1:n.68_69dup, XR_001737948.1:n.67_69dup, XR_001737948.1:n.66_69dup
5.
rs1490962410 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 1:26038571
(GRCh38)
1:26365062
(GRCh37)
- Canonical SPDI:
- NC_000001.11:26038570:C:A
- Gene:
- SLC30A2 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
6.
rs1490554952 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:26046250
(GRCh38)
1:26372741
(GRCh37)
- Canonical SPDI:
- NC_000001.11:26046249:G:A
- Gene:
- SLC30A2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
7.
rs1490497704 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 1:26039814
(GRCh38)
1:26366305
(GRCh37)
- Canonical SPDI:
- NC_000001.11:26039813:C:A,NC_000001.11:26039813:C:T
- Gene:
- SLC30A2 (Varview)
- Functional Consequence:
- synonymous_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
NC_000001.11:g.26039814C>A, NC_000001.11:g.26039814C>T, NC_000001.10:g.26366305C>A, NC_000001.10:g.26366305C>T, NG_042808.1:g.11325G>T, NG_042808.1:g.11325G>A, NM_032513.5:c.789G>T, NM_032513.5:c.789G>A, NM_032513.4:c.789G>T, NM_032513.4:c.789G>A, NM_032513.3:c.789G>T, NM_032513.3:c.789G>A, NM_001004434.3:c.936G>T, NM_001004434.3:c.936G>A, NM_001004434.2:c.936G>T, NM_001004434.2:c.936G>A, NM_001004434.1:c.936G>T, NM_001004434.1:c.936G>A
8.
rs1490479579 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:26037682
(GRCh38)
1:26364173
(GRCh37)
- Canonical SPDI:
- NC_000001.11:26037681:C:T
- Gene:
- SLC30A2 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
- HGVS:
9.
rs1490442546 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 1:26047155
(GRCh38)
1:26373646
(GRCh37)
- Canonical SPDI:
- NC_000001.11:26047154:T:C,NC_000001.11:26047154:T:G
- Gene:
- SLC30A2 (Varview), LOC105376910 (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)
G=0.008734/16
(Korea1K)
- HGVS:
10.
rs1490123286 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:26042359
(GRCh38)
1:26368850
(GRCh37)
- Canonical SPDI:
- NC_000001.11:26042358:C:T
- Gene:
- SLC30A2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
11.
rs1490119601 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:26038193
(GRCh38)
1:26364684
(GRCh37)
- Canonical SPDI:
- NC_000001.11:26038192:A:G
- Gene:
- SLC30A2 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
13.
rs1489956518 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:26037652
(GRCh38)
1:26364143
(GRCh37)
- Canonical SPDI:
- NC_000001.11:26037651:C:T
- Gene:
- SLC30A2 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
14.
rs1489444594 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 1:26044856
(GRCh38)
1:26371347
(GRCh37)
- Canonical SPDI:
- NC_000001.11:26044855:G:T
- Gene:
- SLC30A2 (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:
16.
rs1488920449 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 1:26042502
(GRCh38)
1:26368993
(GRCh37)
- Canonical SPDI:
- NC_000001.11:26042501:G:T
- Gene:
- SLC30A2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(GnomAD_exomes)
T=0.000004/1
(TOPMED)
- HGVS:
17.
rs1488896219 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:26040827
(GRCh38)
1:26367318
(GRCh37)
- Canonical SPDI:
- NC_000001.11:26040826:C:T
- Gene:
- SLC30A2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
18.
rs1488879311 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 1:26044336
(GRCh38)
1:26370827
(GRCh37)
- Canonical SPDI:
- NC_000001.11:26044335:G:T
- Gene:
- SLC30A2 (Varview)
- Functional Consequence:
- intron_variant,missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
19.
rs1488388788 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 1:26047635
(GRCh38)
1:26374126
(GRCh37)
- Canonical SPDI:
- NC_000001.11:26047634:G:C
- Gene:
- SLC30A2 (Varview), LOC105376910 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.00003/8
(TOPMED)
- HGVS: