Links from Nucleotide
Items: 1 to 20 of 412
1.
rs1488444672 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AGA>-
[Show Flanks]
- Chromosome:
- 10:87844222
(GRCh38)
10:89603979
(GRCh37)
- Canonical SPDI:
- NC_000010.11:87844220:AAGA:A
- Gene:
- CFL1P1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency
- MAF:
-=0.000007/1
(GnomAD)
- HGVS:
2.
rs1487853332 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 10:87844940
(GRCh38)
10:89604697
(GRCh37)
- Canonical SPDI:
- NC_000010.11:87844939:T:C
- Gene:
- CFL1P1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000014/2
(GnomAD)
C=0.000015/4
(TOPMED)
- HGVS:
4.
rs1485945940 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 10:87844978
(GRCh38)
10:89604735
(GRCh37)
- Canonical SPDI:
- NC_000010.11:87844977:T:C
- Gene:
- CFL1P1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency
- MAF:
C=0.000007/1
(GnomAD)
- HGVS:
5.
rs1484623201 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 10:87843882
(GRCh38)
10:89603639
(GRCh37)
- Canonical SPDI:
- NC_000010.11:87843881:G:A
- Gene:
- CFL1P1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
6.
rs1483052108 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TATAGAAAA>-
[Show Flanks]
- Chromosome:
- 10:87845333
(GRCh38)
10:89605090
(GRCh37)
- Canonical SPDI:
- NC_000010.11:87845329:AAATATAGAAAA:AAA
- Gene:
- CFL1P1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAA=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
7.
rs1481217801 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 10:87845201
(GRCh38)
10:89604958
(GRCh37)
- Canonical SPDI:
- NC_000010.11:87845200:C:T
- Gene:
- CFL1P1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
8.
rs1480688872 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 10:87844927
(GRCh38)
10:89604684
(GRCh37)
- Canonical SPDI:
- NC_000010.11:87844926:C:A
- Gene:
- CFL1P1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
9.
rs1479705616 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 10:87844370
(GRCh38)
10:89604127
(GRCh37)
- Canonical SPDI:
- NC_000010.11:87844369:A:G
- Gene:
- CFL1P1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
10.
rs1476799470 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 10:87832209
(GRCh38)
10:89591966
(GRCh37)
- Canonical SPDI:
- NC_000010.11:87832208:A:G
- Gene:
- ATAD1 (Varview), CFL1P1 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.00007/1
(
ALFA)
G=0.00022/1
(Estonian)
- HGVS:
11.
rs1476706697 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 10:87844480
(GRCh38)
10:89604237
(GRCh37)
- Canonical SPDI:
- NC_000010.11:87844479:C:T
- Gene:
- CFL1P1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
12.
rs1475056630 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,G
[Show Flanks]
- Chromosome:
- 10:87818913
(GRCh38)
10:89578670
(GRCh37)
- Canonical SPDI:
- NC_000010.11:87818912:T:A,NC_000010.11:87818912:T:G
- Gene:
- ATAD1 (Varview), CFL1P1 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000007/1
(GnomAD)
A=0.000156/1
(1000Genomes)
- HGVS:
13.
rs1468396849 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 10:87818315
(GRCh38)
10:89578072
(GRCh37)
- Canonical SPDI:
- NC_000010.11:87818314:C:A,NC_000010.11:87818314:C:T
- Gene:
- ATAD1 (Varview), CFL1P1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
14.
rs1465998209 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 10:87818946
(GRCh38)
10:89578703
(GRCh37)
- Canonical SPDI:
- NC_000010.11:87818945:A:C
- Gene:
- ATAD1 (Varview), CFL1P1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.000071/1
(
ALFA)
C=0.000015/4
(TOPMED)
- HGVS:
16.
rs1463226700 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 10:87845032
(GRCh38)
10:89604789
(GRCh37)
- Canonical SPDI:
- NC_000010.11:87845031:C:G
- Gene:
- CFL1P1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
17.
rs1462332016 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 10:87844037
(GRCh38)
10:89603794
(GRCh37)
- Canonical SPDI:
- NC_000010.11:87844036:G:A
- Gene:
- CFL1P1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
18.
rs1457490968 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 10:87844839
(GRCh38)
10:89604596
(GRCh37)
- Canonical SPDI:
- NC_000010.11:87844838:A:C,NC_000010.11:87844838:A:G
- Gene:
- CFL1P1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000014/2
(GnomAD)
G=0.000015/4
(TOPMED)
C=0.000546/1
(Korea1K)
- HGVS:
19.
rs1456375843 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 10:87844440
(GRCh38)
10:89604197
(GRCh37)
- Canonical SPDI:
- NC_000010.11:87844439:C:G
- Gene:
- CFL1P1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
20.
rs1456296752 has merged into rs1022805381 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- A>-,AA
[Show Flanks]
- Chromosome:
- 10:87832236
(GRCh38)
10:89591993
(GRCh37)
- Canonical SPDI:
- NC_000010.11:87832235:AAAAAA:AAAAA,NC_000010.11:87832235:AAAAAA:AAAAAAA
- Gene:
- ATAD1 (Varview), CFL1P1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAA=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS: