Links from Nucleotide
Items: 1 to 20 of 411
1.
rs1490296880 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 7:64863927
(GRCh38)
7:64324305
(GRCh37)
- Canonical SPDI:
- NC_000007.14:64863926:G:A
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.00003/8
(TOPMED)
A=0.000036/5
(GnomAD)
- HGVS:
2.
rs1489032634 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 7:64862944
(GRCh38)
7:64323322
(GRCh37)
- Canonical SPDI:
- NC_000007.14:64862943:C:A
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
3.
rs1488373584 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AG>-,AGAG
[Show Flanks]
- Chromosome:
- 7:64864383
(GRCh38)
7:64324761
(GRCh37)
- Canonical SPDI:
- NC_000007.14:64864381:GAG:G,NC_000007.14:64864381:GAG:GAGAG
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.00042/5
(
ALFA)
-=0.00654/92
(GnomAD)
-=0.00656/42
(1000Genomes)
-=0.00879/16
(Korea1K)
-=0.01055/146
(TOMMO)
- HGVS:
4.
rs1487798802 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 7:64862963
(GRCh38)
7:64323341
(GRCh37)
- Canonical SPDI:
- NC_000007.14:64862962:C:A,NC_000007.14:64862962:C:T
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000019/5
(TOPMED)
- HGVS:
5.
rs1487556261 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 7:64863814
(GRCh38)
7:64324192
(GRCh37)
- Canonical SPDI:
- NC_000007.14:64863813:C:T
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
6.
rs1487524604 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GAA>-
[Show Flanks]
- Chromosome:
- 7:64864468
(GRCh38)
7:64324846
(GRCh37)
- Canonical SPDI:
- NC_000007.14:64864465:AAGAA:AA
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AA=0./0
(
ALFA)
-=0.00026/4
(TOMMO)
- HGVS:
7.
rs1483961014 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 7:64864520
(GRCh38)
7:64324898
(GRCh37)
- Canonical SPDI:
- NC_000007.14:64864519:CA:
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000022/3
(GnomAD)
-=0.000026/7
(TOPMED)
- HGVS:
8.
rs1480401503 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 7:64862903
(GRCh38)
7:64323281
(GRCh37)
- Canonical SPDI:
- NC_000007.14:64862902:G:C
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
9.
rs1480360676 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 7:64864029
(GRCh38)
7:64324407
(GRCh37)
- Canonical SPDI:
- NC_000007.14:64864028:A:G
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
11.
rs1478069412 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 7:64864379
(GRCh38)
7:64324757
(GRCh37)
- Canonical SPDI:
- NC_000007.14:64864378:T:A
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.01472/43
(KOREAN)
- HGVS:
12.
rs1477485112 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 7:64864300
(GRCh38)
7:64324678
(GRCh37)
- Canonical SPDI:
- NC_000007.14:64864299:T:C
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
13.
rs1477089191 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 7:64864532
(GRCh38)
7:64324910
(GRCh37)
- Canonical SPDI:
- NC_000007.14:64864531:T:C
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000014/2
(GnomAD)
C=0.000015/4
(TOPMED)
- HGVS:
14.
rs1474087918 has merged into rs59110165 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GAAAA>-,GAAAAGAAAA,GAAAAGAAAAGAAAA
[Show Flanks]
- Chromosome:
- 7:64864478
(GRCh38)
7:64324856
(GRCh37)
- Canonical SPDI:
- NC_000007.14:64864463:AAAAGAAAAGAAAAGAAAA:AAAAGAAAAGAAAA,NC_000007.14:64864463:AAAAGAAAAGAAAAGAAAA:AAAAGAAAAGAAAAGAAAAGAAAA,NC_000007.14:64864463:AAAAGAAAAGAAAAGAAAA:AAAAGAAAAGAAAAGAAAAGAAAAGAAAA
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAGAAAAGAAAAGAAAAGAAAAGAAAA=0./0
(
ALFA)
AAAAG=0.09167/55
(NorthernSweden)
AAAAG=0.1/4
(GENOME_DK)
AAAAG=0.22162/406
(Korea1K)
- HGVS:
15.
rs1471897017 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 7:64863477
(GRCh38)
7:64323855
(GRCh37)
- Canonical SPDI:
- NC_000007.14:64863476:G:T
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
16.
rs1471081919 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 7:64863160
(GRCh38)
7:64323538
(GRCh37)
- Canonical SPDI:
- NC_000007.14:64863159:C:T
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000066/1
(
ALFA)
T=0.000021/3
(GnomAD)
T=0.000223/1
(Estonian)
- HGVS:
17.
rs1470555550 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 7:64863790
(GRCh38)
7:64324168
(GRCh37)
- Canonical SPDI:
- NC_000007.14:64863789:TA:
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
-=0.000035/1
(TOMMO)
- HGVS:
18.
rs1467735016 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- 7:64863009
(GRCh38)
7:64323387
(GRCh37)
- Canonical SPDI:
- NC_000007.14:64863008:C:
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000029/4
(GnomAD)
-=0.000068/18
(TOPMED)
-=0.000468/3
(1000Genomes)
-=0.000546/1
(Korea1K)
-=0.000885/15
(TOMMO)
- HGVS:
20.
rs1466180158 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTGGCCCCAAAACTGGCCATAAA>-
[Show Flanks]
- Chromosome:
- 7:64863526
(GRCh38)
7:64323904
(GRCh37)
- Canonical SPDI:
- NC_000007.14:64863514:CTGGCCATAAATTGGCCCCAAAACTGGCCATAAA:CTGGCCATAAA
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CTGGCCATAAA=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS: