Links from Nucleotide
Items: 1 to 20 of 593
1.
rs1489598048 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:157099200
(GRCh38)
1:157068992
(GRCh37)
- Canonical SPDI:
- NC_000001.11:157099199:G:A
- Gene:
- ETV3L (Varview)
- Functional Consequence:
- synonymous_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
2.
rs1489506569 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 1:157099345
(GRCh38)
1:157069137
(GRCh37)
- Canonical SPDI:
- NC_000001.11:157099344:T:A
- Gene:
- ETV3L (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
3.
rs1489276638 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:157093039
(GRCh38)
1:157062831
(GRCh37)
- Canonical SPDI:
- NC_000001.11:157093038:G:A
- Gene:
- ETV3L (Varview)
- Functional Consequence:
- synonymous_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
4.
rs1487741772 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 1:157098718
(GRCh38)
1:157068510
(GRCh37)
- Canonical SPDI:
- NC_000001.11:157098717:A:T
- Gene:
- ETV3L (Varview)
- Functional Consequence:
- synonymous_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
T=0.000004/1
(GnomAD_exomes)
- HGVS:
5.
rs1487129525 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:157092308
(GRCh38)
1:157062100
(GRCh37)
- Canonical SPDI:
- NC_000001.11:157092307:C:T
- Gene:
- ETV3L (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000053/14
(TOPMED)
T=0.000071/10
(GnomAD)
- HGVS:
6.
rs1484069061 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:157092957
(GRCh38)
1:157062749
(GRCh37)
- Canonical SPDI:
- NC_000001.11:157092956:G:A
- Gene:
- ETV3L (Varview)
- Functional Consequence:
- stop_gained,coding_sequence_variant
- Validated:
- by frequency
- MAF:
A=0.000004/1
(GnomAD_exomes)
- HGVS:
7.
rs1483917535 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:157098869
(GRCh38)
1:157068661
(GRCh37)
- Canonical SPDI:
- NC_000001.11:157098868:T:C
- Gene:
- ETV3L (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000004/1
(GnomAD_exomes)
C=0.000008/2
(TOPMED)
C=0.000021/3
(GnomAD)
- HGVS:
8.
rs1478809532 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:157099183
(GRCh38)
1:157068975
(GRCh37)
- Canonical SPDI:
- NC_000001.11:157099182:C:T
- Gene:
- ETV3L (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency
- MAF:
T=0.000004/1
(GnomAD_exomes)
- HGVS:
9.
rs1478132709 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:157097939
(GRCh38)
1:157067731
(GRCh37)
- Canonical SPDI:
- NC_000001.11:157097938:G:A
- Gene:
- ETV3L (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(GnomAD_exomes)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
10.
rs1478003132 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 1:157099806
(GRCh38)
1:157069598
(GRCh37)
- Canonical SPDI:
- NC_000001.11:157099805:G:T
- Gene:
- ETV3L (Varview)
- Functional Consequence:
- 5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000015/4
(TOPMED)
T=0.000021/3
(GnomAD)
- HGVS:
12.
rs1477263053 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 1:157099325
(GRCh38)
1:157069117
(GRCh37)
- Canonical SPDI:
- NC_000001.11:157099324:G:C
- Gene:
- ETV3L (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency
- MAF:
C=0.000004/1
(GnomAD_exomes)
- HGVS:
13.
rs1476609164 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:157092416
(GRCh38)
1:157062208
(GRCh37)
- Canonical SPDI:
- NC_000001.11:157092415:T:C
- Gene:
- ETV3L (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
15.
rs1469805144 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:157099334
(GRCh38)
1:157069126
(GRCh37)
- Canonical SPDI:
- NC_000001.11:157099333:C:T
- Gene:
- ETV3L (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
T=0.000004/1
(GnomAD_exomes)
- HGVS:
16.
rs1467351670 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 1:157092736
(GRCh38)
1:157062528
(GRCh37)
- Canonical SPDI:
- NC_000001.11:157092735:C:A
- Gene:
- ETV3L (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
17.
rs1467237261 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:157093045
(GRCh38)
1:157062837
(GRCh37)
- Canonical SPDI:
- NC_000001.11:157093044:G:A
- Gene:
- ETV3L (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000006/1
(GnomAD_exomes)
A=0.000026/7
(TOPMED)
A=0.000029/4
(GnomAD)
- HGVS:
18.
rs1465776930 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:157098801
(GRCh38)
1:157068593
(GRCh37)
- Canonical SPDI:
- NC_000001.11:157098800:A:G
- Gene:
- ETV3L (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000008/2
(GnomAD_exomes)
- HGVS:
19.
rs1465545511 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:157092301
(GRCh38)
1:157062093
(GRCh37)
- Canonical SPDI:
- NC_000001.11:157092300:C:T
- Gene:
- ETV3L (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
20.
rs1465255293 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 1:157093057
(GRCh38)
1:157062849
(GRCh37)
- Canonical SPDI:
- NC_000001.11:157093056:C:G
- Gene:
- ETV3L (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS: