Links from Nucleotide
Items: 1 to 20 of 403
1.
rs1490940508 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:6107870
(GRCh38)
11:6129100
(GRCh37)
- Canonical SPDI:
- NC_000011.10:6107869:A:G
- Gene:
- OR56B4 (Varview), LOC124902622 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
2.
rs1490742064 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:6108830
(GRCh38)
11:6130060
(GRCh37)
- Canonical SPDI:
- NC_000011.10:6108829:C:T
- Gene:
- OR56B4 (Varview), LOC124902622 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
T=0.000019/5
(TOPMED)
- HGVS:
3.
rs1487684441 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 11:6108123
(GRCh38)
11:6129353
(GRCh37)
- Canonical SPDI:
- NC_000011.10:6108122:C:A
- Gene:
- OR56B4 (Varview), LOC124902622 (Varview)
- Functional Consequence:
- coding_sequence_variant,intron_variant,stop_gained
- Validated:
- by frequency
- MAF:
A=0.000004/1
(GnomAD_exomes)
- HGVS:
4.
rs1480764215 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 11:6107954
(GRCh38)
11:6129184
(GRCh37)
- Canonical SPDI:
- NC_000011.10:6107953:C:A
- Gene:
- OR56B4 (Varview), LOC124902622 (Varview)
- Functional Consequence:
- intron_variant,coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000021/3
(GnomAD)
A=0.000023/6
(TOPMED)
- HGVS:
5.
rs1478312235 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 11:6108286
(GRCh38)
11:6129516
(GRCh37)
- Canonical SPDI:
- NC_000011.10:6108285:G:T
- Gene:
- OR56B4 (Varview), LOC124902622 (Varview)
- Functional Consequence:
- intron_variant,coding_sequence_variant,missense_variant
- Validated:
- by frequency,by cluster
- MAF:
T=0.000007/1
(GnomAD)
- HGVS:
6.
rs1477694529 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:6107829
(GRCh38)
11:6129059
(GRCh37)
- Canonical SPDI:
- NC_000011.10:6107828:G:A
- Gene:
- OR56B4 (Varview), LOC124902622 (Varview)
- Functional Consequence:
- intron_variant,coding_sequence_variant,synonymous_variant
- Validated:
- by frequency
- MAF:
A=0.000004/1
(GnomAD_exomes)
- HGVS:
7.
rs1466487143 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 11:6107923
(GRCh38)
11:6129153
(GRCh37)
- Canonical SPDI:
- NC_000011.10:6107922:C:G
- Gene:
- OR56B4 (Varview), LOC124902622 (Varview)
- Functional Consequence:
- intron_variant,coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.000021/3
(GnomAD)
- HGVS:
8.
rs1463066751 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GG>-
[Show Flanks]
- Chromosome:
- 11:6108408
(GRCh38)
11:6129638
(GRCh37)
- Canonical SPDI:
- NC_000011.10:6108406:GGG:G
- Gene:
- OR56B4 (Varview), LOC124902622 (Varview)
- Functional Consequence:
- intron_variant,coding_sequence_variant,frameshift_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
-=0.000004/1
(GnomAD_exomes)
-=0.000007/1
(GnomAD)
-=0.000008/2
(TOPMED)
- HGVS:
9.
rs1460926243 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 11:6107724
(GRCh38)
11:6128954
(GRCh37)
- Canonical SPDI:
- NC_000011.10:6107723:T:C
- Gene:
- OR56B4 (Varview), LOC124902622 (Varview)
- Functional Consequence:
- intron_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
10.
rs1458346261 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:6108280
(GRCh38)
11:6129510
(GRCh37)
- Canonical SPDI:
- NC_000011.10:6108279:C:T
- Gene:
- OR56B4 (Varview), LOC124902622 (Varview)
- Functional Consequence:
- intron_variant,synonymous_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(GnomAD_exomes)
T=0.000008/2
(TOPMED)
- HGVS:
11.
rs1456269100 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C,T
[Show Flanks]
- Chromosome:
- 11:6108234
(GRCh38)
11:6129464
(GRCh37)
- Canonical SPDI:
- NC_000011.10:6108233:G:C,NC_000011.10:6108233:G:T
- Gene:
- OR56B4 (Varview), LOC124902622 (Varview)
- Functional Consequence:
- intron_variant,synonymous_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
C=0.000004/1
(GnomAD_exomes)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
12.
rs1446487378 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 11:6107931
(GRCh38)
11:6129161
(GRCh37)
- Canonical SPDI:
- NC_000011.10:6107930:C:G
- Gene:
- OR56B4 (Varview), LOC124902622 (Varview)
- Functional Consequence:
- intron_variant,missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(GnomAD_exomes)
G=0.000007/1
(GnomAD)
- HGVS:
13.
rs1445875363 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:6108627
(GRCh38)
11:6129857
(GRCh37)
- Canonical SPDI:
- NC_000011.10:6108626:G:A
- Gene:
- OR56B4 (Varview), LOC124902622 (Varview)
- Functional Consequence:
- intron_variant,synonymous_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
A=0.000004/1
(GnomAD_exomes)
- HGVS:
14.
rs1445496212 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 11:6107711
(GRCh38)
11:6128941
(GRCh37)
- Canonical SPDI:
- NC_000011.10:6107710:CT:
- Gene:
- OR56B4 (Varview), LOC124902622 (Varview)
- Functional Consequence:
- intron_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.000071/1
(
ALFA)
-=0.000008/2
(TOPMED)
- HGVS:
15.
rs1444139711 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:6107841
(GRCh38)
11:6129071
(GRCh37)
- Canonical SPDI:
- NC_000011.10:6107840:G:A
- Gene:
- OR56B4 (Varview), LOC124902622 (Varview)
- Functional Consequence:
- intron_variant,missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
16.
rs1442213067 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 11:6107729
(GRCh38)
11:6128959
(GRCh37)
- Canonical SPDI:
- NC_000011.10:6107728:C:A,NC_000011.10:6107728:C:T
- Gene:
- OR56B4 (Varview), LOC124902622 (Varview)
- Functional Consequence:
- intron_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000005/1
(GnomAD_exomes)
T=0.000011/3
(TOPMED)
T=0.000021/3
(GnomAD)
- HGVS:
17.
rs1442091173 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:6108549
(GRCh38)
11:6129779
(GRCh37)
- Canonical SPDI:
- NC_000011.10:6108548:C:T
- Gene:
- OR56B4 (Varview), LOC124902622 (Varview)
- Functional Consequence:
- intron_variant,synonymous_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(GnomAD_exomes)
- HGVS:
18.
rs1441992118 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:6108567
(GRCh38)
11:6129797
(GRCh37)
- Canonical SPDI:
- NC_000011.10:6108566:G:A
- Gene:
- OR56B4 (Varview), LOC124902622 (Varview)
- Functional Consequence:
- intron_variant,synonymous_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
20.
rs1436773542 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 11:6108139
(GRCh38)
11:6129369
(GRCh37)
- Canonical SPDI:
- NC_000011.10:6108138:T:A
- Gene:
- OR56B4 (Varview), LOC124902622 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant,intron_variant
- Validated:
- by frequency
- MAF:
A=0.000004/1
(GnomAD_exomes)
- HGVS: