Links from Nucleotide
Items: 1 to 20 of 152
1.
rs1490891570 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 2:179400378
(GRCh38)
2:180265106
(GRCh37)
- Canonical SPDI:
- NC_000002.12:179400378:T:TT
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TT=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
2.
rs1490415879 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:179400928
(GRCh38)
2:180265655
(GRCh37)
- Canonical SPDI:
- NC_000002.12:179400927: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:
3.
rs1490196886 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:179400549
(GRCh38)
2:180265276
(GRCh37)
- Canonical SPDI:
- NC_000002.12:179400548:C:T
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000019/5
(TOPMED)
T=0.000029/4
(GnomAD)
- HGVS:
4.
rs1489924662 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 2:179400471
(GRCh38)
2:180265198
(GRCh37)
- Canonical SPDI:
- NC_000002.12:179400470:G:C
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000011/3
(TOPMED)
- HGVS:
5.
rs1485799004 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- 2:179400478
(GRCh38)
2:180265205
(GRCh37)
- Canonical SPDI:
- NC_000002.12:179400477:CC:C
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CC=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
-=0.000014/2
(GnomAD)
- HGVS:
6.
rs1477140215 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:179400555
(GRCh38)
2:180265282
(GRCh37)
- Canonical SPDI:
- NC_000002.12:179400554:C:T
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
7.
rs1454192953 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 2:179400445
(GRCh38)
2:180265172
(GRCh37)
- Canonical SPDI:
- NC_000002.12:179400444:C:A
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
8.
rs1446950746 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 2:179400603
(GRCh38)
2:180265330
(GRCh37)
- Canonical SPDI:
- NC_000002.12:179400602:C:A
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
- HGVS:
10.
rs1440261381 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:179400673
(GRCh38)
2:180265400
(GRCh37)
- Canonical SPDI:
- NC_000002.12:179400672:A:G
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
- HGVS:
11.
rs1436345189 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:179400569
(GRCh38)
2:180265296
(GRCh37)
- Canonical SPDI:
- NC_000002.12:179400568:T:C
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
12.
rs1428335285 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:179400576
(GRCh38)
2:180265303
(GRCh37)
- Canonical SPDI:
- NC_000002.12:179400575: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.
rs1425747249 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:179400754
(GRCh38)
2:180265481
(GRCh37)
- Canonical SPDI:
- NC_000002.12:179400753: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:
14.
rs1409381073 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 2:179400913
(GRCh38)
2:180265640
(GRCh37)
- Canonical SPDI:
- NC_000002.12:179400912:A:C
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000019/5
(TOPMED)
C=0.000036/5
(GnomAD)
- HGVS:
15.
rs1407856868 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 2:179400936
(GRCh38)
2:180265663
(GRCh37)
- Canonical SPDI:
- NC_000002.12:179400935:A:G,NC_000002.12:179400935:A:T
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000011/3
(TOPMED)
- HGVS:
16.
rs1405914712 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 2:179400868
(GRCh38)
2:180265595
(GRCh37)
- Canonical SPDI:
- NC_000002.12:179400867:C:G
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
17.
rs1398870762 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C,T
[Show Flanks]
- Chromosome:
- 2:179400626
(GRCh38)
2:180265353
(GRCh37)
- Canonical SPDI:
- NC_000002.12:179400625:G:C,NC_000002.12:179400625:G:T
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
C=0.002183/4
(Korea1K)
- HGVS:
18.
rs1390502988 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:179400653
(GRCh38)
2:180265380
(GRCh37)
- Canonical SPDI:
- NC_000002.12:179400652:T:C
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000162/3
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000014/2
(GnomAD)
C=0.00067/3
(Estonian)
- HGVS:
19.
rs1386286270 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:179400601
(GRCh38)
2:180265328
(GRCh37)
- Canonical SPDI:
- NC_000002.12:179400600:C:T
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
20.
rs1385149552 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 2:179400759
(GRCh38)
2:180265486
(GRCh37)
- Canonical SPDI:
- NC_000002.12:179400758:C:A
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS: