Links from Nucleotide
Items: 1 to 20 of 756
2.
rs1488211637 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 22:18637477
(GRCh38)
22:20487344
(GRCh37)
- Canonical SPDI:
- NC_000022.11:18637476:T:C
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
3.
rs1487401410 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 22:18638609
(GRCh38)
22:20488476
(GRCh37)
- Canonical SPDI:
- NC_000022.11:18638608:G:A,NC_000022.11:18638608:G:C
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
A=0.00009/8
(GnomAD)
- HGVS:
5.
rs1486321419 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 22:18639134
(GRCh38)
22:20489001
(GRCh37)
- Canonical SPDI:
- NC_000022.11:18639133:G:A
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
8.
rs1485955633 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 22:18637117
(GRCh38)
22:20486984
(GRCh37)
- Canonical SPDI:
- NC_000022.11:18637116:C:T
- Validated:
- by frequency,by alfa
- MAF:
T=0.000084/1
(
ALFA)
T=0.000059/8
(GnomAD)
- HGVS:
9.
rs1485729122 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 22:18638830
(GRCh38)
22:20488697
(GRCh37)
- Canonical SPDI:
- NC_000022.11:18638829:C:T
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.00005/7
(GnomAD)
- HGVS:
10.
rs1485443746 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 22:18636939
(GRCh38)
22:20486806
(GRCh37)
- Canonical SPDI:
- NC_000022.11:18636938:C:T
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000337/4
(
ALFA)
T=0.000226/24
(GnomAD)
T=0.000625/4
(1000Genomes)
- HGVS:
12.
rs1484689659 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AGTC>-
[Show Flanks]
- Chromosome:
- 22:18638814
(GRCh38)
22:20488681
(GRCh37)
- Canonical SPDI:
- NC_000022.11:18638808:CAGTCAGTC:CAGTC
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CAGTC=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
13.
rs1484168036 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 22:18638736
(GRCh38)
22:20488603
(GRCh37)
- Canonical SPDI:
- NC_000022.11:18638735:G:A
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.00031/2
(1000Genomes)
- HGVS:
14.
rs1484118647 has merged into rs1258507624 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CC>-,C,CCC,CCCC,CCCCCCCC,CCCCCCCCC
[Show Flanks]
- Chromosome:
- 22:18637555
(GRCh38)
22:20487422
(GRCh37)
- Canonical SPDI:
- NC_000022.11:18637546:CCCCCCCCCC:CCCCCCCC,NC_000022.11:18637546:CCCCCCCCCC:CCCCCCCCC,NC_000022.11:18637546:CCCCCCCCCC:CCCCCCCCCCC,NC_000022.11:18637546:CCCCCCCCCC:CCCCCCCCCCCC,NC_000022.11:18637546:CCCCCCCCCC:CCCCCCCCCCCCCCCC,NC_000022.11:18637546:CCCCCCCCCC:CCCCCCCCCCCCCCCCC
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CCCCCCCCC=0./0
(
ALFA)
-=0.0408/32
(Korea1K)
- HGVS:
NC_000022.11:g.18637555_18637556del, NC_000022.11:g.18637556del, NC_000022.11:g.18637556dup, NC_000022.11:g.18637555_18637556dup, NC_000022.11:g.18637551_18637556dup, NC_000022.11:g.18637550_18637556dup, NC_000022.10:g.20487422_20487423del, NC_000022.10:g.20487423del, NC_000022.10:g.20487423dup, NC_000022.10:g.20487422_20487423dup, NC_000022.10:g.20487418_20487423dup, NC_000022.10:g.20487417_20487423dup, NG_029357.2:g.1919_1920del, NG_029357.2:g.1920del, NG_029357.2:g.1920dup, NG_029357.2:g.1919_1920dup, NG_029357.2:g.1915_1920dup, NG_029357.2:g.1914_1920dup
19.
rs1480319184 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 22:18636606
(GRCh38)
22:20486473
(GRCh37)
- Canonical SPDI:
- NC_000022.11:18636605:C:G,NC_000022.11:18636605:C:T
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
C=0.25/1
(SGDP_PRJ)
- HGVS: