Links from Protein
Items: 1 to 20 of 255
1.
rs1482446756 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 3:186789155
(GRCh38)
3:186506944
(GRCh37)
- Canonical SPDI:
- NC_000003.12:186789154:A:G
- Gene:
- EIF4A2 (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(GnomAD_exomes)
G=0.000023/6
(TOPMED)
- HGVS:
2.
rs1480206121 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 3:186784970
(GRCh38)
3:186502759
(GRCh37)
- Canonical SPDI:
- NC_000003.12:186784969:G:A
- Gene:
- EIF4A2 (Varview), SNORD2 (Varview), SNORA81 (Varview), MIR1248 (Varview), SNORA63B (Varview)
- Functional Consequence:
- upstream_transcript_variant,coding_sequence_variant,downstream_transcript_variant,missense_variant,500B_downstream_variant,2KB_upstream_variant
- Validated:
- by frequency,by cluster
- MAF:
A=0.000007/1
(GnomAD)
- HGVS:
3.
rs1479988881 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 3:186783639
(GRCh38)
3:186501428
(GRCh37)
- Canonical SPDI:
- NC_000003.12:186783638:G:C
- Gene:
- EIF4A2 (Varview), SNORD2 (Varview)
- Functional Consequence:
- missense_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
4.
rs1468845576 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 3:186787154
(GRCh38)
3:186504943
(GRCh37)
- Canonical SPDI:
- NC_000003.12:186787153:T:C
- Gene:
- EIF4A2 (Varview), SNORA63 (Varview), SNORA4 (Varview), SNORA81 (Varview), MIR1248 (Varview)
- Functional Consequence:
- synonymous_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant,coding_sequence_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
5.
rs1468091044 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 3:186789212
(GRCh38)
3:186507001
(GRCh37)
- Canonical SPDI:
- NC_000003.12:186789211:G:A
- Gene:
- EIF4A2 (Varview)
- Functional Consequence:
- synonymous_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
A=0.000004/1
(GnomAD_exomes)
- HGVS:
6.
rs1446637608 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AGA>-
[Show Flanks]
- Chromosome:
- 3:186789185
(GRCh38)
3:186506974
(GRCh37)
- Canonical SPDI:
- NC_000003.12:186789179:GAAGAAGA:GAAGA
- Gene:
- EIF4A2 (Varview)
- Functional Consequence:
- coding_sequence_variant,inframe_deletion
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GAAGA=0./0
(
ALFA)
-=0.000004/1
(GnomAD_exomes)
-=0.000004/1
(TOPMED)
- HGVS:
7.
rs1434622162 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 3:186787853
(GRCh38)
3:186505642
(GRCh37)
- Canonical SPDI:
- NC_000003.12:186787852:A:C,NC_000003.12:186787852:A:G
- Gene:
- EIF4A2 (Varview), SNORA63 (Varview), SNORA4 (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant,500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000066/2
(
ALFA)
G=0.000004/1
(GnomAD_exomes)
C=0.003275/6
(Korea1K)
- HGVS:
8.
rs1433398821 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 3:186786228
(GRCh38)
3:186504017
(GRCh37)
- Canonical SPDI:
- NC_000003.12:186786227:G:A
- Gene:
- EIF4A2 (Varview), SNORA63 (Varview), SNORA4 (Varview), SNORA81 (Varview), MIR1248 (Varview), SNORA63B (Varview)
- Functional Consequence:
- 2KB_upstream_variant,coding_sequence_variant,synonymous_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
A=0.000008/2
(GnomAD_exomes)
- HGVS:
9.
rs1431248436 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 3:186786050
(GRCh38)
3:186503839
(GRCh37)
- Canonical SPDI:
- NC_000003.12:186786049:T:G
- Gene:
- EIF4A2 (Varview), SNORA63 (Varview), SNORA4 (Varview), SNORA81 (Varview), MIR1248 (Varview), SNORA63B (Varview)
- Functional Consequence:
- 2KB_upstream_variant,coding_sequence_variant,synonymous_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000094/3
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(GnomAD_exomes)
G=0.000008/2
(TOPMED)
- HGVS:
10.
rs1431044103 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 3:186787129
(GRCh38)
3:186504918
(GRCh37)
- Canonical SPDI:
- NC_000003.12:186787128:A:G
- Gene:
- EIF4A2 (Varview), SNORA63 (Varview), SNORA4 (Varview), SNORA81 (Varview), MIR1248 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,downstream_transcript_variant,500B_downstream_variant,upstream_transcript_variant,coding_sequence_variant,synonymous_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(GnomAD_exomes)
G=0.000004/1
(TOPMED)
- HGVS:
11.
rs1427878661 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 3:186789202
(GRCh38)
3:186506991
(GRCh37)
- Canonical SPDI:
- NC_000003.12:186789201:G:A
- Gene:
- EIF4A2 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000066/1
(
ALFA)
A=0.000008/2
(GnomAD_exomes)
A=0.000014/2
(GnomAD)
A=0.000223/1
(Estonian)
- HGVS:
12.
rs1426539966 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 3:186785059
(GRCh38)
3:186502848
(GRCh37)
- Canonical SPDI:
- NC_000003.12:186785058:C:G,NC_000003.12:186785058:C:T
- Gene:
- EIF4A2 (Varview), SNORD2 (Varview), SNORA81 (Varview), MIR1248 (Varview), SNORA63B (Varview)
- Functional Consequence:
- downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,upstream_transcript_variant,coding_sequence_variant,synonymous_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
13.
rs1423569431 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 3:186783631
(GRCh38)
3:186501420
(GRCh37)
- Canonical SPDI:
- NC_000003.12:186783630:T:A
- Gene:
- EIF4A2 (Varview), SNORD2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant,missense_variant
- Validated:
- by frequency
- MAF:
A=0.000004/1
(GnomAD_exomes)
- HGVS:
14.
rs1419265135 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 3:186785924
(GRCh38)
3:186503713
(GRCh37)
- Canonical SPDI:
- NC_000003.12:186785923:C:G,NC_000003.12:186785923:C:T
- Gene:
- EIF4A2 (Varview), SNORA63 (Varview), SNORA4 (Varview), SNORA81 (Varview), MIR1248 (Varview), SNORA63B (Varview)
- Functional Consequence:
- upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant,synonymous_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
15.
rs1418830995 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AA>-
[Show Flanks]
- Chromosome:
- 3:186789189
(GRCh38)
3:186506978
(GRCh37)
- Canonical SPDI:
- NC_000003.12:186789188:AA:
- Gene:
- EIF4A2 (Varview)
- Functional Consequence:
- coding_sequence_variant,frameshift_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(GnomAD_exomes)
-=0.000004/1
(TOPMED)
-=0.000014/2
(GnomAD)
- HGVS:
16.
rs1418086849 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 3:186783636
(GRCh38)
3:186501425
(GRCh37)
- Canonical SPDI:
- NC_000003.12:186783635:A:C,NC_000003.12:186783635:A:G
- Gene:
- EIF4A2 (Varview), SNORD2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
C=0.000004/1
(GnomAD_exomes)
G=0.000007/1
(GnomAD)
- HGVS:
17.
rs1411067027 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 3:186785927
(GRCh38)
3:186503716
(GRCh37)
- Canonical SPDI:
- NC_000003.12:186785926:T:C
- Gene:
- EIF4A2 (Varview), SNORA63 (Varview), SNORA4 (Varview), SNORA81 (Varview), MIR1248 (Varview), SNORA63B (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,synonymous_variant
- Validated:
- by frequency
- MAF:
C=0.000004/1
(GnomAD_exomes)
- HGVS:
18.
rs1407908695 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 3:186785917
(GRCh38)
3:186503706
(GRCh37)
- Canonical SPDI:
- NC_000003.12:186785916:T:C
- Gene:
- EIF4A2 (Varview), SNORA63 (Varview), SNORA4 (Varview), SNORA81 (Varview), MIR1248 (Varview), SNORA63B (Varview)
- Functional Consequence:
- upstream_transcript_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
C=0.000004/1
(GnomAD_exomes)
- HGVS:
19.
rs1406419091 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 3:186789228
(GRCh38)
3:186507017
(GRCh37)
- Canonical SPDI:
- NC_000003.12:186789227:A:G
- Gene:
- EIF4A2 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(GnomAD_exomes)
G=0.000004/1
(TOPMED)
- HGVS:
20.
rs1402198188 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 3:186787153
(GRCh38)
3:186504942
(GRCh37)
- Canonical SPDI:
- NC_000003.12:186787152:C:A,NC_000003.12:186787152:C:T
- Gene:
- EIF4A2 (Varview), SNORA63 (Varview), SNORA4 (Varview), SNORA81 (Varview), MIR1248 (Varview)
- Functional Consequence:
- upstream_transcript_variant,coding_sequence_variant,synonymous_variant,500B_downstream_variant,downstream_transcript_variant,2KB_upstream_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000051/1
(
ALFA)
T=0.000004/1
(GnomAD_exomes)
- HGVS: