Links from Gene
Items: 1 to 20 of 977
1.
rs1491366627 has merged into rs56111510 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAA>-,A,AA,AAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 19:9215351
(GRCh38)
19:9326027
(GRCh37)
- Canonical SPDI:
- NC_000019.10:9215341:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000019.10:9215341:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000019.10:9215341:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:9215341:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:9215341:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:9215341:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:9215341:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:9215341:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:9215341:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:9215341:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:9215341:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:9215341:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:9215341:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:9215341:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:9215341:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:9215341:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:9215341:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:9215341:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- OR7E24 (Varview), OR7D4 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000019.10:g.9215351_9215365del, NC_000019.10:g.9215352_9215365del, NC_000019.10:g.9215353_9215365del, NC_000019.10:g.9215354_9215365del, NC_000019.10:g.9215358_9215365del, NC_000019.10:g.9215359_9215365del, NC_000019.10:g.9215360_9215365del, NC_000019.10:g.9215361_9215365del, NC_000019.10:g.9215362_9215365del, NC_000019.10:g.9215363_9215365del, NC_000019.10:g.9215364_9215365del, NC_000019.10:g.9215365del, NC_000019.10:g.9215365dup, NC_000019.10:g.9215364_9215365dup, NC_000019.10:g.9215363_9215365dup, NC_000019.10:g.9215361_9215365dup, NC_000019.10:g.9215360_9215365dup, NC_000019.10:g.9215359_9215365dup, NC_000019.9:g.9326027_9326041del, NC_000019.9:g.9326028_9326041del, NC_000019.9:g.9326029_9326041del, NC_000019.9:g.9326030_9326041del, NC_000019.9:g.9326034_9326041del, NC_000019.9:g.9326035_9326041del, NC_000019.9:g.9326036_9326041del, NC_000019.9:g.9326037_9326041del, NC_000019.9:g.9326038_9326041del, NC_000019.9:g.9326039_9326041del, NC_000019.9:g.9326040_9326041del, NC_000019.9:g.9326041del, NC_000019.9:g.9326041dup, NC_000019.9:g.9326040_9326041dup, NC_000019.9:g.9326039_9326041dup, NC_000019.9:g.9326037_9326041dup, NC_000019.9:g.9326036_9326041dup, NC_000019.9:g.9326035_9326041dup, NG_027953.1:g.4516_4530del, NG_027953.1:g.4517_4530del, NG_027953.1:g.4518_4530del, NG_027953.1:g.4519_4530del, NG_027953.1:g.4523_4530del, NG_027953.1:g.4524_4530del, NG_027953.1:g.4525_4530del, NG_027953.1:g.4526_4530del, NG_027953.1:g.4527_4530del, NG_027953.1:g.4528_4530del, NG_027953.1:g.4529_4530del, NG_027953.1:g.4530del, NG_027953.1:g.4530dup, NG_027953.1:g.4529_4530dup, NG_027953.1:g.4528_4530dup, NG_027953.1:g.4526_4530dup, NG_027953.1:g.4525_4530dup, NG_027953.1:g.4524_4530dup
2.
rs1491347156 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 19:9215341
(GRCh38)
19:9326017
(GRCh37)
- Canonical SPDI:
- NC_000019.10:9215340:CA:
- Gene:
- OR7E24 (Varview), OR7D4 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00708/84
(
ALFA)
-=0.00287/81
(TOMMO)
- HGVS:
3.
rs1490474662 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 19:9213669
(GRCh38)
19:9324345
(GRCh37)
- Canonical SPDI:
- NC_000019.10:9213668:T:C,NC_000019.10:9213668:T:G
- Gene:
- OR7E24 (Varview), OR7D4 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by cluster
- MAF:
G=0.0027/5
(Korea1K)
- HGVS:
4.
rs1490264637 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 19:9214101
(GRCh38)
19:9324777
(GRCh37)
- Canonical SPDI:
- NC_000019.10:9214100:C:A
- Gene:
- OR7E24 (Varview), OR7D4 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
5.
rs1490194466 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 19:9213760
(GRCh38)
19:9324436
(GRCh37)
- Canonical SPDI:
- NC_000019.10:9213759:A:C
- Gene:
- OR7E24 (Varview), OR7D4 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
6.
rs1489369366 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 19:9215920
(GRCh38)
19:9326596
(GRCh37)
- Canonical SPDI:
- NC_000019.10:9215919:A:G
- Gene:
- OR7E24 (Varview), OR7D4 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_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:
8.
rs1486646326 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 19:9215019
(GRCh38)
19:9325695
(GRCh37)
- Canonical SPDI:
- NC_000019.10:9215018:A:G
- Gene:
- OR7E24 (Varview), OR7D4 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
9.
rs1484761022 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 19:9216219
(GRCh38)
19:9326895
(GRCh37)
- Canonical SPDI:
- NC_000019.10:9216218:T:C
- Gene:
- OR7E24 (Varview), OR7D4 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
- HGVS:
10.
rs1484673623 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 19:9214127
(GRCh38)
19:9324803
(GRCh37)
- Canonical SPDI:
- NC_000019.10:9214126:G:T
- Gene:
- OR7E24 (Varview), OR7D4 (Varview)
- Functional Consequence:
- synonymous_variant,coding_sequence_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
11.
rs1483624748 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:9214670
(GRCh38)
19:9325346
(GRCh37)
- Canonical SPDI:
- NC_000019.10:9214669:G:A
- Gene:
- OR7E24 (Varview), OR7D4 (Varview)
- Functional Consequence:
- synonymous_variant,coding_sequence_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency
- MAF:
A=0.000004/1
(GnomAD_exomes)
- HGVS:
12.
rs1483321693 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 19:9216791
(GRCh38)
19:9327467
(GRCh37)
- Canonical SPDI:
- NC_000019.10:9216790:C:G
- Gene:
- OR7E24 (Varview), OR7D4 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_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:
13.
rs1482711166 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 19:9213856
(GRCh38)
19:9324532
(GRCh37)
- Canonical SPDI:
- NC_000019.10:9213855:A:C
- Gene:
- OR7E24 (Varview), OR7D4 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by cluster
- MAF:
C=0.000005/1
(GnomAD_exomes)
C=0.00006/1
(TOMMO)
- HGVS:
14.
rs1481628176 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:9214250
(GRCh38)
19:9324926
(GRCh37)
- Canonical SPDI:
- NC_000019.10:9214249:G:A
- Gene:
- OR7E24 (Varview), OR7D4 (Varview)
- Functional Consequence:
- synonymous_variant,coding_sequence_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency
- MAF:
A=0.000004/1
(GnomAD_exomes)
- HGVS:
15.
rs1480918420 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 19:9213736
(GRCh38)
19:9324412
(GRCh37)
- Canonical SPDI:
- NC_000019.10:9213735:T:C
- Gene:
- OR7E24 (Varview), OR7D4 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
16.
rs1478977234 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:9216138
(GRCh38)
19:9326814
(GRCh37)
- Canonical SPDI:
- NC_000019.10:9216137:C:T
- Gene:
- OR7E24 (Varview), OR7D4 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
17.
rs1478634217 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 19:9216525
(GRCh38)
19:9327201
(GRCh37)
- Canonical SPDI:
- NC_000019.10:9216524:T:C
- Gene:
- OR7E24 (Varview), OR7D4 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000019/5
(TOPMED)
- HGVS:
19.
rs1477366061 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 19:9215374
(GRCh38)
19:9326050
(GRCh37)
- Canonical SPDI:
- NC_000019.10:9215373:T:A
- Gene:
- OR7E24 (Varview), OR7D4 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_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: