Links from Nucleotide
Items: 1 to 20 of 129
1.
rs1482546620 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 8:79780109
(GRCh38)
8:80692344
(GRCh37)
- Canonical SPDI:
- NC_000008.11:79780108:A:G
- Gene:
- LOC101927040 (Varview), LINC01607 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000023/6
(TOPMED)
- HGVS:
2.
rs1481054260 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 8:79777395
(GRCh38)
8:80689630
(GRCh37)
- Canonical SPDI:
- NC_000008.11:79777394:T:A
- Gene:
- LOC101927040 (Varview), LINC01607 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.00025/4
(TOMMO)
- HGVS:
3.
rs1478518724 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 8:79802788
(GRCh38)
8:80715023
(GRCh37)
- Canonical SPDI:
- NC_000008.11:79802787:T:A
- Gene:
- LOC101927040 (Varview), LINC01607 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000021/3
(GnomAD)
- HGVS:
4.
rs1477858837 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 8:79768142
(GRCh38)
8:80680377
(GRCh37)
- Canonical SPDI:
- NC_000008.11:79768141:G:A
- Gene:
- HEY1 (Varview), LINC01607 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000071/1
(
ALFA)
A=0.000022/3
(GnomAD)
- HGVS:
5.
rs1476830050 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 8:79802582
(GRCh38)
8:80714817
(GRCh37)
- Canonical SPDI:
- NC_000008.11:79802581:A:T
- Gene:
- LOC101927040 (Varview), LINC01607 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
6.
rs1468953910 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 8:79802621
(GRCh38)
8:80714856
(GRCh37)
- Canonical SPDI:
- NC_000008.11:79802620:G:A
- Gene:
- LOC101927040 (Varview), LINC01607 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
7.
rs1468062143 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 8:79802799
(GRCh38)
8:80715034
(GRCh37)
- Canonical SPDI:
- NC_000008.11:79802798:A:G
- Gene:
- LOC101927040 (Varview), LINC01607 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000142/2
(
ALFA)
G=0.000014/2
(GnomAD)
G=0.000023/6
(TOPMED)
- HGVS:
8.
rs1460420523 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 8:79802517
(GRCh38)
8:80714752
(GRCh37)
- Canonical SPDI:
- NC_000008.11:79802516:T:G
- Gene:
- LOC101927040 (Varview), LINC01607 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000142/2
(
ALFA)
G=0.000036/5
(GnomAD)
G=0.000049/13
(TOPMED)
- HGVS:
10.
rs1442488348 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 8:79768188
(GRCh38)
8:80680423
(GRCh37)
- Canonical SPDI:
- NC_000008.11:79768187:G:A
- Gene:
- HEY1 (Varview), LINC01607 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
11.
rs1437908187 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 8:79768218
(GRCh38)
8:80680453
(GRCh37)
- Canonical SPDI:
- NC_000008.11:79768217:G:A,NC_000008.11:79768217:G:T
- Gene:
- HEY1 (Varview), LINC01607 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000071/2
(TOMMO)
- HGVS:
12.
rs1433363668 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->ATCCTGTG
[Show Flanks]
- Chromosome:
- 8:79802550
(GRCh38)
8:80714786
(GRCh37)
- Canonical SPDI:
- NC_000008.11:79802550:ATCCTGTG:ATCCTGTGATCCTGTG
- Gene:
- LOC101927040 (Varview), LINC01607 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
ATCCTGTGATCCTGTG=0./0
(
ALFA)
ATCCTGTG=0.000004/1
(TOPMED)
- HGVS:
14.
rs1429408753 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CTG
[Show Flanks]
- Chromosome:
- 8:79780036
(GRCh38)
8:80692272
(GRCh37)
- Canonical SPDI:
- NC_000008.11:79780036:TGCTGCTGCTG:TGCTGCTGCTGCTG
- Gene:
- LOC101927040 (Varview), LINC01607 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGCTGCTGCTGCTG=0./0
(
ALFA)
TGC=0.000021/3
(GnomAD)
TGC=0.000023/6
(TOPMED)
- HGVS:
15.
rs1426178923 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 8:79768217
(GRCh38)
8:80680452
(GRCh37)
- Canonical SPDI:
- NC_000008.11:79768216:C:A,NC_000008.11:79768216:C:T
- Gene:
- HEY1 (Varview), LINC01607 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
16.
rs1418036170 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 8:79802576
(GRCh38)
8:80714811
(GRCh37)
- Canonical SPDI:
- NC_000008.11:79802575:T:C
- Gene:
- LOC101927040 (Varview), LINC01607 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
17.
rs1414092182 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 8:79768212
(GRCh38)
8:80680447
(GRCh37)
- Canonical SPDI:
- NC_000008.11:79768211:G:T
- Gene:
- HEY1 (Varview), LINC01607 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
18.
rs1409818801 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 8:79780015
(GRCh38)
8:80692250
(GRCh37)
- Canonical SPDI:
- NC_000008.11:79780014:C:G
- Gene:
- LOC101927040 (Varview), LINC01607 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
19.
rs1405340250 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 8:79780017
(GRCh38)
8:80692252
(GRCh37)
- Canonical SPDI:
- NC_000008.11:79780016:G:C
- Gene:
- LOC101927040 (Varview), LINC01607 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000011/3
(TOPMED)
C=0.000029/4
(GnomAD)
- HGVS:
20.
rs1405112409 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 8:79802825
(GRCh38)
8:80715060
(GRCh37)
- Canonical SPDI:
- NC_000008.11:79802824:A:G
- Gene:
- LOC101927040 (Varview), LINC01607 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS: