Links from Gene
Items: 1 to 20 of 1000
1.
rs1491455089 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A,ATA,ATATATATATA,ATATATATATATATA,ATATATG,ATATG,ATG,ATGTTTTG,C,G,GTTTTG
[Show Flanks]
- Chromosome:
- 19:15085177
(GRCh38)
19:15195989
(GRCh37)
- Canonical SPDI:
- NC_000019.10:15085177::A,NC_000019.10:15085177::ATA,NC_000019.10:15085177::ATATATATATA,NC_000019.10:15085177::ATATATATATATATA,NC_000019.10:15085177::ATATATG,NC_000019.10:15085177::ATATG,NC_000019.10:15085177::ATG,NC_000019.10:15085177::ATGTTTTG,NC_000019.10:15085177::C,NC_000019.10:15085177::G,NC_000019.10:15085177::GTTTTG
- Gene:
- OR1I1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000019.10:g.15085177_15085178insA, NC_000019.10:g.15085177_15085178insATA, NC_000019.10:g.15085177_15085178insATATATATATA, NC_000019.10:g.15085177_15085178insATATATATATATATA, NC_000019.10:g.15085177_15085178insATATATG, NC_000019.10:g.15085177_15085178insATATG, NC_000019.10:g.15085177_15085178insATG, NC_000019.10:g.15085177_15085178insATGTTTTG, NC_000019.10:g.15085177_15085178insC, NC_000019.10:g.15085177_15085178insG, NC_000019.10:g.15085177_15085178insGTTTTG, NC_000019.9:g.15195988_15195989insA, NC_000019.9:g.15195988_15195989insATA, NC_000019.9:g.15195988_15195989insATATATATATA, NC_000019.9:g.15195988_15195989insATATATATATATATA, NC_000019.9:g.15195988_15195989insATATATG, NC_000019.9:g.15195988_15195989insATATG, NC_000019.9:g.15195988_15195989insATG, NC_000019.9:g.15195988_15195989insATGTTTTG, NC_000019.9:g.15195988_15195989insC, NC_000019.9:g.15195988_15195989insG, NC_000019.9:g.15195988_15195989insGTTTTG
2.
rs1491304652 has merged into rs757508009 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 19:15085184
(GRCh38)
19:15195995
(GRCh37)
- Canonical SPDI:
- NC_000019.10:15085176:TTTTTTTTTTT:TTTTTTT,NC_000019.10:15085176:TTTTTTTTTTT:TTTTTTTT,NC_000019.10:15085176:TTTTTTTTTTT:TTTTTTTTT,NC_000019.10:15085176:TTTTTTTTTTT:TTTTTTTTTT,NC_000019.10:15085176:TTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:15085176:TTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:15085176:TTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:15085176:TTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:15085176:TTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:15085176:TTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:15085176:TTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:15085176:TTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:15085176:TTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:15085176:TTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:15085176:TTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:15085176:TTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:15085176:TTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:15085176:TTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:15085176:TTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:15085176:TTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:15085176:TTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- OR1I1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTT=0./0
(
ALFA)
-=0.375/15
(GENOME_DK)
- HGVS:
NC_000019.10:g.15085184_15085187del, NC_000019.10:g.15085185_15085187del, NC_000019.10:g.15085186_15085187del, NC_000019.10:g.15085187del, NC_000019.10:g.15085187dup, NC_000019.10:g.15085186_15085187dup, NC_000019.10:g.15085185_15085187dup, NC_000019.10:g.15085184_15085187dup, NC_000019.10:g.15085183_15085187dup, NC_000019.10:g.15085182_15085187dup, NC_000019.10:g.15085181_15085187dup, NC_000019.10:g.15085180_15085187dup, NC_000019.10:g.15085179_15085187dup, NC_000019.10:g.15085178_15085187dup, NC_000019.10:g.15085177_15085187dup, NC_000019.10:g.15085187_15085188insTTTTTTTTTTTT, NC_000019.10:g.15085187_15085188insTTTTTTTTTTTTT, NC_000019.10:g.15085187_15085188insTTTTTTTTTTTTTT, NC_000019.10:g.15085187_15085188insTTTTTTTTTTTTTTT, NC_000019.10:g.15085187_15085188insTTTTTTTTTTTTTTTT, NC_000019.10:g.15085187_15085188insTTTTTTTTTTTTTTTTT, NC_000019.9:g.15195995_15195998del, NC_000019.9:g.15195996_15195998del, NC_000019.9:g.15195997_15195998del, NC_000019.9:g.15195998del, NC_000019.9:g.15195998dup, NC_000019.9:g.15195997_15195998dup, NC_000019.9:g.15195996_15195998dup, NC_000019.9:g.15195995_15195998dup, NC_000019.9:g.15195994_15195998dup, NC_000019.9:g.15195993_15195998dup, NC_000019.9:g.15195992_15195998dup, NC_000019.9:g.15195991_15195998dup, NC_000019.9:g.15195990_15195998dup, NC_000019.9:g.15195989_15195998dup, NC_000019.9:g.15195988_15195998dup, NC_000019.9:g.15195998_15195999insTTTTTTTTTTTT, NC_000019.9:g.15195998_15195999insTTTTTTTTTTTTT, NC_000019.9:g.15195998_15195999insTTTTTTTTTTTTTT, NC_000019.9:g.15195998_15195999insTTTTTTTTTTTTTTT, NC_000019.9:g.15195998_15195999insTTTTTTTTTTTTTTTT, NC_000019.9:g.15195998_15195999insTTTTTTTTTTTTTTTTT
3.
rs1490848532 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 19:15088090
(GRCh38)
19:15198901
(GRCh37)
- Canonical SPDI:
- NC_000019.10:15088089:C:A
- Gene:
- OR1I1 (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:
4.
rs1490351652 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 19:15088594
(GRCh38)
19:15199405
(GRCh37)
- Canonical SPDI:
- NC_000019.10:15088593:T:G
- Gene:
- OR1I1 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
5.
rs1489230167 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 19:15086373
(GRCh38)
19:15197184
(GRCh37)
- Canonical SPDI:
- NC_000019.10:15086372:A:G
- Gene:
- OR1I1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
7.
rs1488097156 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 19:15088088
(GRCh38)
19:15198899
(GRCh37)
- Canonical SPDI:
- NC_000019.10:15088087:C:G
- Gene:
- OR1I1 (Varview)
- Functional Consequence:
- stop_gained,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:
8.
rs1487341683 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:15086671
(GRCh38)
19:15197482
(GRCh37)
- Canonical SPDI:
- NC_000019.10:15086670:G:A
- Gene:
- OR1I1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
9.
rs1486371703 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AGG>-
[Show Flanks]
- Chromosome:
- 19:15086025
(GRCh38)
19:15196836
(GRCh37)
- Canonical SPDI:
- NC_000019.10:15086023:GAGG:G
- Gene:
- OR1I1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000015/4
(TOPMED)
- HGVS:
10.
rs1485950706 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 19:15085370
(GRCh38)
19:15196181
(GRCh37)
- Canonical SPDI:
- NC_000019.10:15085369:T:G
- Gene:
- OR1I1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000023/6
(TOPMED)
- HGVS:
11.
rs1485894187 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 19:15088385
(GRCh38)
19:15199196
(GRCh37)
- Canonical SPDI:
- NC_000019.10:15088384:T:C
- Gene:
- OR1I1 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000011/3
(TOPMED)
C=0.000546/1
(Korea1K)
- HGVS:
12.
rs1485389378 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:15086509
(GRCh38)
19:15197320
(GRCh37)
- Canonical SPDI:
- NC_000019.10:15086508:C:T
- Gene:
- OR1I1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
13.
rs1485077853 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 19:15085221
(GRCh38)
19:15196032
(GRCh37)
- Canonical SPDI:
- NC_000019.10:15085220:A:G
- Gene:
- OR1I1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/1
(GnomAD)
- HGVS:
14.
rs1483628408 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TG>-
[Show Flanks]
- Chromosome:
- 19:15085073
(GRCh38)
19:15195884
(GRCh37)
- Canonical SPDI:
- NC_000019.10:15085071:GTG:G
- Gene:
- OR1I1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
-=0.000011/3
(TOPMED)
- HGVS:
15.
rs1483564813 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- ATATATATATATATATATATATA>-
[Show Flanks]
- Chromosome:
- 19:15085148
(GRCh38)
19:15195959
(GRCh37)
- Canonical SPDI:
- NC_000019.10:15085147:ATATATATATATATATATATATA:
- Gene:
- OR1I1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00177/21
(
ALFA)
-=0.01341/408
(GnomAD)
- HGVS:
16.
rs1483162820 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:15088340
(GRCh38)
19:15199151
(GRCh37)
- Canonical SPDI:
- NC_000019.10:15088339:G:A
- Gene:
- OR1I1 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000015/4
(TOPMED)
A=0.000021/3
(GnomAD)
A=0.000035/1
(TOMMO)
- HGVS:
17.
rs1482828758 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 19:15087133
(GRCh38)
19:15197944
(GRCh37)
- Canonical SPDI:
- NC_000019.10:15087132:A:C
- Gene:
- OR1I1 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
C=0.000004/1
(GnomAD_exomes)
- HGVS:
18.
rs1481360984 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:15088445
(GRCh38)
19:15199256
(GRCh37)
- Canonical SPDI:
- NC_000019.10:15088444:G:A
- Gene:
- OR1I1 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
19.
rs1478760349 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:15087491
(GRCh38)
19:15198302
(GRCh37)
- Canonical SPDI:
- NC_000019.10:15087490:G:A
- Gene:
- OR1I1 (Varview)
- Functional Consequence:
- synonymous_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:
20.
rs1478563704 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 19:15086791
(GRCh38)
19:15197602
(GRCh37)
- Canonical SPDI:
- NC_000019.10:15086790:G:
- Gene:
- OR1I1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000014/2
(GnomAD)
- HGVS: