Links from Protein
Items: 1 to 20 of 47
1.
rs1489374998 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 22:40953620
(GRCh38)
22:41349624
(GRCh37)
- Canonical SPDI:
- NC_000022.11:40953619:C:T
- Gene:
- RBX1 (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_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:
2.
rs1465910648 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 22:40967813
(GRCh38)
22:41363817
(GRCh37)
- Canonical SPDI:
- NC_000022.11:40967812:C:T
- Gene:
- RBX1 (Varview)
- Functional Consequence:
- synonymous_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
T=0.000012/3
(GnomAD_exomes)
- HGVS:
3.
rs1444711209 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 22:40967840
(GRCh38)
22:41363844
(GRCh37)
- Canonical SPDI:
- NC_000022.11:40967839:A:G
- Gene:
- RBX1 (Varview)
- Functional Consequence:
- synonymous_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000047/1
(
ALFA)
G=0.000004/1
(GnomAD_exomes)
- HGVS:
4.
rs1438650404 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 22:40972485
(GRCh38)
22:41368489
(GRCh37)
- Canonical SPDI:
- NC_000022.11:40972484:C:T
- Gene:
- RBX1 (Varview)
- Functional Consequence:
- synonymous_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000004/1
(GnomAD_exomes)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
5.
rs1404244041 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 22:40951431
(GRCh38)
22:41347435
(GRCh37)
- Canonical SPDI:
- NC_000022.11:40951430:C:A
- Gene:
- RBX1 (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:
6.
rs1397998246 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 22:40967834
(GRCh38)
22:41363838
(GRCh37)
- Canonical SPDI:
- NC_000022.11:40967833:C:G
- Gene:
- RBX1 (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=0.000008/2
(TOPMED)
- HGVS:
7.
rs1396037011 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 22:40967858
(GRCh38)
22:41363862
(GRCh37)
- Canonical SPDI:
- NC_000022.11:40967857:G:A
- Gene:
- RBX1 (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
8.
rs1390102491 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 22:40964060
(GRCh38)
22:41360064
(GRCh37)
- Canonical SPDI:
- NC_000022.11:40964059:A:G
- Gene:
- RBX1 (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
9.
rs1368648213 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 22:40967876
(GRCh38)
22:41363880
(GRCh37)
- Canonical SPDI:
- NC_000022.11:40967875:A:G
- Gene:
- RBX1 (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=0.000008/2
(TOPMED)
- HGVS:
10.
rs1349859516 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 22:40964111
(GRCh38)
22:41360115
(GRCh37)
- Canonical SPDI:
- NC_000022.11:40964110:C:G
- Gene:
- RBX1 (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
11.
rs1332943521 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 22:40967852
(GRCh38)
22:41363856
(GRCh37)
- Canonical SPDI:
- NC_000022.11:40967851:T:C
- Gene:
- RBX1 (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
12.
rs1273433902 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 22:40951425
(GRCh38)
22:41347429
(GRCh37)
- Canonical SPDI:
- NC_000022.11:40951424:C:T
- Gene:
- RBX1 (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(GnomAD_exomes)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
13.
rs1264230640 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 22:40953593
(GRCh38)
22:41349597
(GRCh37)
- Canonical SPDI:
- NC_000022.11:40953592:T:C
- Gene:
- RBX1 (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant
- Validated:
- by frequency
- MAF:
C=0.000004/1
(GnomAD_exomes)
- HGVS:
14.
rs1263532749 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 22:40953562
(GRCh38)
22:41349566
(GRCh37)
- Canonical SPDI:
- NC_000022.11:40953561:C:T
- Gene:
- RBX1 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency
- MAF:
T=0.000004/1
(GnomAD_exomes)
- HGVS:
15.
rs1237450416 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 22:40951443
(GRCh38)
22:41347447
(GRCh37)
- Canonical SPDI:
- NC_000022.11:40951442:C:T
- Gene:
- RBX1 (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_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:
16.
rs1233710085 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 22:40951414
(GRCh38)
22:41347418
(GRCh37)
- Canonical SPDI:
- NC_000022.11:40951413:G:C
- Gene:
- RBX1 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
17.
rs1209264381 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 22:40953572
(GRCh38)
22:41349576
(GRCh37)
- Canonical SPDI:
- NC_000022.11:40953571:C:T
- Gene:
- RBX1 (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant
- Validated:
- by frequency
- MAF:
T=0.000004/1
(GnomAD_exomes)
- HGVS:
19.
rs1199647062 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 22:40951449
(GRCh38)
22:41347453
(GRCh37)
- Canonical SPDI:
- NC_000022.11:40951448:G:C
- Gene:
- RBX1 (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000004/1
(GnomAD_exomes)
C=0.000007/1
(GnomAD)
- HGVS: