Links from Nucleotide
Items: 1 to 20 of 444
1.
rs1491528925 has merged into rs60004852 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CC>-,C,CCC,CCCC,CCCCC,CCCCCC,CCCCCCC,CCCCCCCC
[Show Flanks]
- Chromosome:
- 3:114232900
(GRCh38)
3:113951747
(GRCh37)
- Canonical SPDI:
- NC_000003.12:114232891:CCCCCCCCCC:CCCCCCCC,NC_000003.12:114232891:CCCCCCCCCC:CCCCCCCCC,NC_000003.12:114232891:CCCCCCCCCC:CCCCCCCCCCC,NC_000003.12:114232891:CCCCCCCCCC:CCCCCCCCCCCC,NC_000003.12:114232891:CCCCCCCCCC:CCCCCCCCCCCCC,NC_000003.12:114232891:CCCCCCCCCC:CCCCCCCCCCCCCC,NC_000003.12:114232891:CCCCCCCCCC:CCCCCCCCCCCCCCC,NC_000003.12:114232891:CCCCCCCCCC:CCCCCCCCCCCCCCCC
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CCCCCCCCCCCCCC=0./0
(
ALFA)
C=0.4906/2457
(1000Genomes)
- HGVS:
NC_000003.12:g.114232900_114232901del, NC_000003.12:g.114232901del, NC_000003.12:g.114232901dup, NC_000003.12:g.114232900_114232901dup, NC_000003.12:g.114232899_114232901dup, NC_000003.12:g.114232898_114232901dup, NC_000003.12:g.114232897_114232901dup, NC_000003.12:g.114232896_114232901dup, NC_000003.11:g.113951747_113951748del, NC_000003.11:g.113951748del, NC_000003.11:g.113951748dup, NC_000003.11:g.113951747_113951748dup, NC_000003.11:g.113951746_113951748dup, NC_000003.11:g.113951745_113951748dup, NC_000003.11:g.113951744_113951748dup, NC_000003.11:g.113951743_113951748dup, NG_022216.2:g.329_330del, NG_022216.2:g.330del, NG_022216.2:g.330dup, NG_022216.2:g.329_330dup, NG_022216.2:g.328_330dup, NG_022216.2:g.327_330dup, NG_022216.2:g.326_330dup, NG_022216.2:g.325_330dup
2.
rs1491486944 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GC,TC
[Show Flanks]
- Chromosome:
- 3:114232900
(GRCh38)
3:113951748
(GRCh37)
- Canonical SPDI:
- NC_000003.12:114232900:C:CGC,NC_000003.12:114232900:C:CTC
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CTC=0./0
(
ALFA)
CG=0.000004/1
(TOPMED)
- HGVS:
3.
rs1490831200 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 3:114232458
(GRCh38)
3:113951305
(GRCh37)
- Canonical SPDI:
- NC_000003.12:114232457:T:C
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
4.
rs1489904357 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 3:114232498
(GRCh38)
3:113951345
(GRCh37)
- Canonical SPDI:
- NC_000003.12:114232497:A:T
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
5.
rs1489001422 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 3:114231932
(GRCh38)
3:113950779
(GRCh37)
- Canonical SPDI:
- NC_000003.12:114231931:C:G,NC_000003.12:114231931:C:T
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
6.
rs1488189258 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 3:114232749
(GRCh38)
3:113951596
(GRCh37)
- Canonical SPDI:
- NC_000003.12:114232748:C:T
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000011/3
(TOPMED)
T=0.000342/1
(KOREAN)
- HGVS:
7.
rs1487534222 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 3:114232902
(GRCh38)
3:113951749
(GRCh37)
- Canonical SPDI:
- NC_000003.12:114232901:A:C,NC_000003.12:114232901:A:G
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.00044/7
(
ALFA)
G=0.00001/1
(GnomAD)
C=0.00492/78
(TOMMO)
C=0.04825/141
(KOREAN)
A=0.5/2
(SGDP_PRJ)
- HGVS:
8.
rs1487209434 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 3:114231644
(GRCh38)
3:113950491
(GRCh37)
- Canonical SPDI:
- NC_000003.12:114231643:G:A,NC_000003.12:114231643:G:C
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000015/4
(TOPMED)
A=0.000029/4
(GnomAD)
C=0.000106/2
(TOMMO)
- HGVS:
9.
rs1486443855 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 3:114232774
(GRCh38)
3:113951621
(GRCh37)
- Canonical SPDI:
- NC_000003.12:114232773:C:T
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000036/5
(GnomAD)
- HGVS:
10.
rs1485924275 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 3:114232565
(GRCh38)
3:113951412
(GRCh37)
- Canonical SPDI:
- NC_000003.12:114232564:T:A
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
11.
rs1482056361 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 3:114233101
(GRCh38)
3:113951948
(GRCh37)
- Canonical SPDI:
- NC_000003.12:114233100:G:A
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
12.
rs1481652649 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CCTT>-
[Show Flanks]
- Chromosome:
- 3:114232242
(GRCh38)
3:113951089
(GRCh37)
- Canonical SPDI:
- NC_000003.12:114232238:CTTCCTT:CTT
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CTT=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000156/1
(1000Genomes)
- HGVS:
13.
rs1481287024 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 3:114232553
(GRCh38)
3:113951400
(GRCh37)
- Canonical SPDI:
- NC_000003.12:114232552:G:C
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000036/5
(GnomAD)
C=0.000072/19
(TOPMED)
- HGVS:
15.
rs1478021054 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G
[Show Flanks]
- Chromosome:
- 3:114231675
(GRCh38)
3:113950522
(GRCh37)
- Canonical SPDI:
- NC_000003.12:114231674:C:A,NC_000003.12:114231674:C:G
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
17.
rs1477690875 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 3:114232539
(GRCh38)
3:113951386
(GRCh37)
- Canonical SPDI:
- NC_000003.12:114232538:T:C
- Validated:
- by frequency,by alfa
- MAF:
C=0.000071/1
(
ALFA)
C=0.000011/3
(TOPMED)
- HGVS:
18.
rs1476725348 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 3:114231387
(GRCh38)
3:113950234
(GRCh37)
- Canonical SPDI:
- NC_000003.12:114231386:A:G
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
19.
rs1474034142 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 3:114231346
(GRCh38)
3:113950193
(GRCh37)
- Canonical SPDI:
- NC_000003.12:114231345:G:A
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
20.
rs1472491615 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 3:114231450
(GRCh38)
3:113950297
(GRCh37)
- Canonical SPDI:
- NC_000003.12:114231449:A:G
- Validated:
- by frequency
- MAF:
G=0.000007/1
(GnomAD)
- HGVS: