Links from Protein
Items: 1 to 20 of 758
1.
rs1490089314 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 1:182887232
(GRCh38)
1:182856367
(GRCh37)
- Canonical SPDI:
- NC_000001.11:182887231:A:C,NC_000001.11:182887231:A:G
- Gene:
- DHX9 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(GnomAD_exomes)
C=0.000011/3
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
NC_000001.11:g.182887232A>C, NC_000001.11:g.182887232A>G, NC_000001.10:g.182856367A>C, NC_000001.10:g.182856367A>G, NG_029930.1:g.52929A>C, NG_029930.1:g.52929A>G, NM_001357.5:c.3611A>C, NM_001357.5:c.3611A>G, NM_001357.4:c.3611A>C, NM_001357.4:c.3611A>G, NR_033302.2:n.3880A>C, NR_033302.2:n.3880A>G, NR_033302.1:n.3923A>C, NR_033302.1:n.3923A>G, NM_030588.1:c.506A>C, NM_030588.1:c.506A>G, NP_001348.2:p.Asn1204Thr, NP_001348.2:p.Asn1204Ser
2.
rs1489516275 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 1:182883302
(GRCh38)
1:182852437
(GRCh37)
- Canonical SPDI:
- NC_000001.11:182883301:T:A
- Gene:
- DHX9 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
3.
rs1489229467 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:182859085
(GRCh38)
1:182828220
(GRCh37)
- Canonical SPDI:
- NC_000001.11:182859084:T:C
- Gene:
- DHX9 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(GnomAD_exomes)
C=0.000007/1
(GnomAD)
- HGVS:
5.
rs1488133847 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:182879250
(GRCh38)
1:182848385
(GRCh37)
- Canonical SPDI:
- NC_000001.11:182879249:A:G
- Gene:
- DHX9 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
G=0.000005/1
(GnomAD_exomes)
- HGVS:
6.
rs1487248115 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 1:182876101
(GRCh38)
1:182845236
(GRCh37)
- Canonical SPDI:
- NC_000001.11:182876100:A:C
- Gene:
- DHX9 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.000111/1
(
ALFA)
C=0.000004/1
(GnomAD_exomes)
- HGVS:
7.
rs1484442459 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 1:182860044
(GRCh38)
1:182829179
(GRCh37)
- Canonical SPDI:
- NC_000001.11:182860043:C:A,NC_000001.11:182860043:C:T
- Gene:
- DHX9 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,synonymous_variant,missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000012/3
(GnomAD_exomes)
T=0.000014/2
(GnomAD)
- HGVS:
NC_000001.11:g.182860044C>A, NC_000001.11:g.182860044C>T, NC_000001.10:g.182829179C>A, NC_000001.10:g.182829179C>T, NG_029930.1:g.25741C>A, NG_029930.1:g.25741C>T, NM_001357.5:c.1192C>A, NM_001357.5:c.1192C>T, NM_001357.4:c.1192C>A, NM_001357.4:c.1192C>T, NR_033302.2:n.1461C>A, NR_033302.2:n.1461C>T, NR_033302.1:n.1504C>A, NR_033302.1:n.1504C>T, NP_001348.2:p.Leu398Met
8.
rs1481818505 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:182852238
(GRCh38)
1:182821373
(GRCh37)
- Canonical SPDI:
- NC_000001.11:182852237:A:G
- Gene:
- DHX9 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000111/1
(
ALFA)
G=0.000004/1
(GnomAD_exomes)
- HGVS:
9.
rs1481090375 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:182853306
(GRCh38)
1:182822441
(GRCh37)
- Canonical SPDI:
- NC_000001.11:182853305:A:G
- Gene:
- DHX9 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,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:
10.
rs1479754425 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 1:182858762
(GRCh38)
1:182827897
(GRCh37)
- Canonical SPDI:
- NC_000001.11:182858761:C:G,NC_000001.11:182858761:C:T
- Gene:
- DHX9 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000001.11:g.182858762C>G, NC_000001.11:g.182858762C>T, NC_000001.10:g.182827897C>G, NC_000001.10:g.182827897C>T, NG_029930.1:g.24459C>G, NG_029930.1:g.24459C>T, NM_001357.5:c.930C>G, NM_001357.5:c.930C>T, NM_001357.4:c.930C>G, NM_001357.4:c.930C>T, NR_033302.2:n.1199C>G, NR_033302.2:n.1199C>T, NR_033302.1:n.1242C>G, NR_033302.1:n.1242C>T
11.
rs1475560063 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:182853373
(GRCh38)
1:182822508
(GRCh37)
- Canonical SPDI:
- NC_000001.11:182853372:C:T
- Gene:
- DHX9 (Varview)
- Functional Consequence:
- synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
- Validated:
- by frequency
- MAF:
T=0.000004/1
(GnomAD_exomes)
- HGVS:
12.
rs1475345085 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:182883269
(GRCh38)
1:182852404
(GRCh37)
- Canonical SPDI:
- NC_000001.11:182883268:T:C
- Gene:
- DHX9 (Varview)
- Functional Consequence:
- synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
13.
rs1474434369 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 1:182859109
(GRCh38)
1:182828244
(GRCh37)
- Canonical SPDI:
- NC_000001.11:182859108:T:A
- Gene:
- DHX9 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant,non_coding_transcript_variant
- Validated:
- by frequency
- MAF:
A=0.000004/1
(GnomAD_exomes)
- HGVS:
14.
rs1473434792 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:182860012
(GRCh38)
1:182829147
(GRCh37)
- Canonical SPDI:
- NC_000001.11:182860011:T:C
- Gene:
- DHX9 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
15.
rs1470862871 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 1:182884749
(GRCh38)
1:182853884
(GRCh37)
- Canonical SPDI:
- NC_000001.11:182884748:A:C
- Gene:
- DHX9 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
17.
rs1466131207 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:182842609
(GRCh38)
1:182811744
(GRCh37)
- Canonical SPDI:
- NC_000001.11:182842608:A:G
- Gene:
- DHX9 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
18.
rs1465314699 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:182887430
(GRCh38)
1:182856565
(GRCh37)
- Canonical SPDI:
- NC_000001.11:182887429:A:G
- Gene:
- DHX9 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant,non_coding_transcript_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.
rs1462955792 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:182883227
(GRCh38)
1:182852362
(GRCh37)
- Canonical SPDI:
- NC_000001.11:182883226:C:T
- Gene:
- DHX9 (Varview)
- Functional Consequence:
- synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(GnomAD_exomes)
T=0.000004/1
(TOPMED)
- HGVS:
20.
rs1461417525 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 1:182880520
(GRCh38)
1:182849655
(GRCh37)
- Canonical SPDI:
- NC_000001.11:182880519:G:C
- Gene:
- DHX9 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(GnomAD_exomes)
C=0.000042/11
(TOPMED)
- HGVS: