Links from Nucleotide
Items: 1 to 20 of 1826
2.
rs1490611018 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 8:7891505
(GRCh38)
8:7749027
(GRCh37)
- Canonical SPDI:
- NC_000008.11:7891504:A:T
- Validated:
- by frequency,by alfa
- MAF:
T=0.00008/1
(
ALFA)
T=0.00001/1
(GnomAD)
- HGVS:
6.
rs1489273113 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 8:7895083
(GRCh38)
8:7752605
(GRCh37)
- Canonical SPDI:
- NC_000008.11:7895082:A:G
- Gene:
- DEFB4A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000011/1
(GnomAD)
- HGVS:
13.
rs1487605405 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 8:7890132
(GRCh38)
8:7747654
(GRCh37)
- Canonical SPDI:
- NC_000008.11:7890131:T:C,NC_000008.11:7890131:T:G
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.00001/1
(GnomAD)
- HGVS:
14.
rs1487392634 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 8:7894182
(GRCh38)
8:7751704
(GRCh37)
- Canonical SPDI:
- NC_000008.11:7894181:C:T
- Gene:
- DEFB4A (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.00051/6
(
ALFA)
T=0.00034/32
(GnomAD)
- HGVS:
15.
rs1487235585 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 8:7898094
(GRCh38)
8:7755616
(GRCh37)
- Canonical SPDI:
- NC_000008.11:7898093:G:A
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.00002/2
(GnomAD)
- HGVS:
16.
rs1487194594 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 8:7893695
(GRCh38)
8:7751217
(GRCh37)
- Canonical SPDI:
- NC_000008.11:7893694:GGG:GG
- Gene:
- DEFB4A (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GG=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.00001/1
(GnomAD)
- HGVS:
17.
rs1487177565 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 8:7892523
(GRCh38)
8:7750045
(GRCh37)
- Canonical SPDI:
- NC_000008.11:7892522:T:G
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.00001/1
(GnomAD)
- HGVS:
18.
rs1487138259 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 8:7896904
(GRCh38)
8:7754426
(GRCh37)
- Canonical SPDI:
- NC_000008.11:7896903:C:T
- Gene:
- DEFB4A (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.00012/7
(GnomAD)
- HGVS: