Links from Protein
Items: 1 to 20 of 262
1.
rs1487140356 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 19:39539768
(GRCh38)
19:40030408
(GRCh37)
- Canonical SPDI:
- NC_000019.10:39539767:C:G,NC_000019.10:39539767:C:T
- Gene:
- EID2 (Varview)
- Functional Consequence:
- synonymous_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
3.
rs1485225755 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:39540001
(GRCh38)
19:40030641
(GRCh37)
- Canonical SPDI:
- NC_000019.10:39540000:C:T
- Gene:
- EID2 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
T=0.000005/1
(GnomAD_exomes)
- HGVS:
4.
rs1482995992 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 19:39540041
(GRCh38)
19:40030681
(GRCh37)
- Canonical SPDI:
- NC_000019.10:39540040:T:A
- Gene:
- EID2 (Varview)
- Functional Consequence:
- synonymous_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
6.
rs1482362233 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 19:39540054
(GRCh38)
19:40030694
(GRCh37)
- Canonical SPDI:
- NC_000019.10:39540053:C:G
- Gene:
- EID2 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
7.
rs1482051554 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:39540071
(GRCh38)
19:40030711
(GRCh37)
- Canonical SPDI:
- NC_000019.10:39540070:C:T
- Gene:
- EID2 (Varview)
- Functional Consequence:
- synonymous_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
T=0.000009/2
(GnomAD_exomes)
- HGVS:
12.
rs1473281896 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:39539723
(GRCh38)
19:40030363
(GRCh37)
- Canonical SPDI:
- NC_000019.10:39539722:C:T
- Gene:
- EID2 (Varview)
- Functional Consequence:
- synonymous_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
T=0.000012/3
(GnomAD_exomes)
- HGVS:
13.
rs1473095060 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 19:39539427
(GRCh38)
19:40030067
(GRCh37)
- Canonical SPDI:
- NC_000019.10:39539426:T:C
- Gene:
- EID2 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
C=0.000004/1
(GnomAD_exomes)
- HGVS:
14.
rs1468059012 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 19:39539563
(GRCh38)
19:40030203
(GRCh37)
- Canonical SPDI:
- NC_000019.10:39539562:C:G
- Gene:
- EID2 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by cluster
- MAF:
G=0.0005/1
(Korea1K)
- HGVS:
15.
rs1466564766 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:39539498
(GRCh38)
19:40030138
(GRCh37)
- Canonical SPDI:
- NC_000019.10:39539497:G:A
- Gene:
- EID2 (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
17.
rs1462453328 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 19:39539383
(GRCh38)
19:40030023
(GRCh37)
- Canonical SPDI:
- NC_000019.10:39539382:T:A
- Gene:
- EID2 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
18.
rs1449702870 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 19:39539800
(GRCh38)
19:40030440
(GRCh37)
- Canonical SPDI:
- NC_000019.10:39539799:T:G
- Gene:
- EID2 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
19.
rs1449284181 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 19:39539507
(GRCh38)
19:40030147
(GRCh37)
- Canonical SPDI:
- NC_000019.10:39539506:C:A
- Gene:
- EID2 (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
20.
rs1447778803 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 19:39539968
(GRCh38)
19:40030608
(GRCh37)
- Canonical SPDI:
- NC_000019.10:39539967:G:C
- Gene:
- EID2 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS: