Links from Protein
Items: 1 to 20 of 352
1.
rs1489877872 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:123940236
(GRCh38)
11:123810943
(GRCh37)
- Canonical SPDI:
- NC_000011.10:123940235:C:T
- Gene:
- OR4D5 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
T=0.000004/1
(GnomAD_exomes)
- HGVS:
2.
rs1485268805 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:123939624
(GRCh38)
11:123810331
(GRCh37)
- Canonical SPDI:
- NC_000011.10:123939623:C:T
- Gene:
- OR4D5 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
- HGVS:
3.
rs1484864222 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 11:123939986
(GRCh38)
11:123810693
(GRCh37)
- Canonical SPDI:
- NC_000011.10:123939985:A:C,NC_000011.10:123939985:A:G
- Gene:
- OR4D5 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000028/1
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
G=0.000008/2
(GnomAD_exomes)
- HGVS:
4.
rs1481990260 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 11:123940424
(GRCh38)
11:123811131
(GRCh37)
- Canonical SPDI:
- NC_000011.10:123940423:G:T
- Gene:
- OR4D5 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
5.
rs1477868626 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 11:123939803
(GRCh38)
11:123810510
(GRCh37)
- Canonical SPDI:
- NC_000011.10:123939802:T:C
- Gene:
- OR4D5 (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
6.
rs1474571495 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 11:123940564
(GRCh38)
11:123811271
(GRCh37)
- Canonical SPDI:
- NC_000011.10:123940563:C:G
- Gene:
- OR4D5 (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)
G=0.000014/2
(GnomAD)
- HGVS:
7.
rs1472901756 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:123940471
(GRCh38)
11:123811178
(GRCh37)
- Canonical SPDI:
- NC_000011.10:123940470:C:T
- Gene:
- OR4D5 (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant
- Validated:
- by frequency
- MAF:
T=0.000004/1
(GnomAD_exomes)
- HGVS:
8.
rs1462390384 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 11:123939808
(GRCh38)
11:123810515
(GRCh37)
- Canonical SPDI:
- NC_000011.10:123939807:C:A
- Gene:
- OR4D5 (Varview)
- Functional Consequence:
- synonymous_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
A=0.000004/1
(GnomAD_exomes)
- HGVS:
9.
rs1461974730 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:123940062
(GRCh38)
11:123810769
(GRCh37)
- Canonical SPDI:
- NC_000011.10:123940061:G:A
- Gene:
- OR4D5 (Varview)
- Functional Consequence:
- coding_sequence_variant,stop_gained
- Validated:
- by frequency,by alfa
- MAF:
A=0.000111/1
(
ALFA)
A=0.000004/1
(GnomAD_exomes)
- HGVS:
10.
rs1458643665 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 11:123940322
(GRCh38)
11:123811029
(GRCh37)
- Canonical SPDI:
- NC_000011.10:123940321:G:A,NC_000011.10:123940321:G:C
- Gene:
- OR4D5 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
12.
rs1452276850 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:123940436
(GRCh38)
11:123811143
(GRCh37)
- Canonical SPDI:
- NC_000011.10:123940435:C:T
- Gene:
- OR4D5 (Varview)
- Functional Consequence:
- synonymous_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
T=0.000004/1
(GnomAD_exomes)
- HGVS:
13.
rs1450930138 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TGAATCAGA
[Show Flanks]
- Chromosome:
- 11:123940021
(GRCh38)
11:123810729
(GRCh37)
- Canonical SPDI:
- NC_000011.10:123940021:ATGAATCAGA:ATGAATCAGATGAATCAGA
- Gene:
- OR4D5 (Varview)
- Functional Consequence:
- inframe_insertion,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATGAATCAGATGAATCAGA=0./0
(
ALFA)
ATGAATCAG=0.000004/1
(TOPMED)
ATGAATCAG=0.000007/1
(GnomAD)
ATGAATCAG=0.000008/2
(GnomAD_exomes)
ATGAATCAG=0.000035/1
(TOMMO)
- HGVS:
14.
rs1449316616 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 11:123940026
(GRCh38)
11:123810733
(GRCh37)
- Canonical SPDI:
- NC_000011.10:123940025:A:T
- Gene:
- OR4D5 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
15.
rs1445425637 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 11:123940006
(GRCh38)
11:123810713
(GRCh37)
- Canonical SPDI:
- NC_000011.10:123940005:G:C
- Gene:
- OR4D5 (Varview)
- Functional Consequence:
- synonymous_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
C=0.000004/1
(GnomAD_exomes)
- HGVS:
16.
rs1444490451 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:123939849
(GRCh38)
11:123810556
(GRCh37)
- Canonical SPDI:
- NC_000011.10:123939848:C:T
- Gene:
- OR4D5 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(GnomAD_exomes)
- HGVS:
18.
rs1436956031 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:123940269
(GRCh38)
11:123810976
(GRCh37)
- Canonical SPDI:
- NC_000011.10:123940268:A:G
- Gene:
- OR4D5 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_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.
rs1427907550 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TG>-
[Show Flanks]
- Chromosome:
- 11:123939804
(GRCh38)
11:123810511
(GRCh37)
- Canonical SPDI:
- NC_000011.10:123939803:TG:
- Gene:
- OR4D5 (Varview)
- Functional Consequence:
- frameshift_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.000071/1
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000011/3
(TOPMED)
- HGVS:
20.
rs1427331299 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 11:123939709
(GRCh38)
11:123810416
(GRCh37)
- Canonical SPDI:
- NC_000011.10:123939708:C:A
- Gene:
- OR4D5 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS: