Links from Gene
Items: 1 to 20 of 1027
1.
rs1491407603 has merged into rs71570470 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTT>-,T,TTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 1:248695240
(GRCh38)
1:248858541
(GRCh37)
- Canonical SPDI:
- NC_000001.11:248695228:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:248695228:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:248695228:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:248695228:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:248695228:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:248695228:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:248695228:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:248695228:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:248695228:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:248695228:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:248695228:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:248695228:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:248695228:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:248695228:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:248695228:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:248695228:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- OR14I1 (Varview), LYPD9P (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTT=0./0
(
ALFA)
- HGVS:
NC_000001.11:g.248695240_248695251del, NC_000001.11:g.248695241_248695251del, NC_000001.11:g.248695245_248695251del, NC_000001.11:g.248695249_248695251del, NC_000001.11:g.248695250_248695251del, NC_000001.11:g.248695251del, NC_000001.11:g.248695251dup, NC_000001.11:g.248695250_248695251dup, NC_000001.11:g.248695249_248695251dup, NC_000001.11:g.248695248_248695251dup, NC_000001.11:g.248695247_248695251dup, NC_000001.11:g.248695246_248695251dup, NC_000001.11:g.248695245_248695251dup, NC_000001.11:g.248695244_248695251dup, NC_000001.11:g.248695238_248695251dup, NC_000001.11:g.248695251_248695252insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.248858541_248858552del, NC_000001.10:g.248858542_248858552del, NC_000001.10:g.248858546_248858552del, NC_000001.10:g.248858550_248858552del, NC_000001.10:g.248858551_248858552del, NC_000001.10:g.248858552del, NC_000001.10:g.248858552dup, NC_000001.10:g.248858551_248858552dup, NC_000001.10:g.248858550_248858552dup, NC_000001.10:g.248858549_248858552dup, NC_000001.10:g.248858548_248858552dup, NC_000001.10:g.248858547_248858552dup, NC_000001.10:g.248858546_248858552dup, NC_000001.10:g.248858545_248858552dup, NC_000001.10:g.248858539_248858552dup, NC_000001.10:g.248858552_248858553insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
2.
rs1491358973 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GTTTT
[Show Flanks]
- Chromosome:
- 1:248695229
(GRCh38)
1:248858531
(GRCh37)
- Canonical SPDI:
- NC_000001.11:248695229:TTTT:TTTTGTTTT
- Gene:
- OR14I1 (Varview), LYPD9P (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTGTTTT=0.00295/35
(
ALFA)
TTTTG=0.01075/792
(GnomAD)
- HGVS:
3.
rs1491018458 has merged into rs11296697 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAA>-,A,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 1:248697486
(GRCh38)
1:248860787
(GRCh37)
- Canonical SPDI:
- NC_000001.11:248697477:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000001.11:248697477:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000001.11:248697477:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:248697477:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:248697477:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:248697477:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:248697477:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:248697477:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:248697477:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:248697477:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:248697477:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:248697477:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:248697477:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:248697477:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:248697477:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:248697477:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:248697477:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:248697477:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:248697477:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:248697477:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- OR14I1 (Varview), LYPD9P (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAA=0./0
(
ALFA)
-=0.10982/550
(1000Genomes)
- HGVS:
NC_000001.11:g.248697486_248697499del, NC_000001.11:g.248697487_248697499del, NC_000001.11:g.248697490_248697499del, NC_000001.11:g.248697491_248697499del, NC_000001.11:g.248697492_248697499del, NC_000001.11:g.248697493_248697499del, NC_000001.11:g.248697494_248697499del, NC_000001.11:g.248697495_248697499del, NC_000001.11:g.248697496_248697499del, NC_000001.11:g.248697497_248697499del, NC_000001.11:g.248697498_248697499del, NC_000001.11:g.248697499del, NC_000001.11:g.248697499dup, NC_000001.11:g.248697498_248697499dup, NC_000001.11:g.248697497_248697499dup, NC_000001.11:g.248697496_248697499dup, NC_000001.11:g.248697495_248697499dup, NC_000001.11:g.248697494_248697499dup, NC_000001.11:g.248697493_248697499dup, NC_000001.11:g.248697489_248697499dup, NC_000001.10:g.248860787_248860800del, NC_000001.10:g.248860788_248860800del, NC_000001.10:g.248860791_248860800del, NC_000001.10:g.248860792_248860800del, NC_000001.10:g.248860793_248860800del, NC_000001.10:g.248860794_248860800del, NC_000001.10:g.248860795_248860800del, NC_000001.10:g.248860796_248860800del, NC_000001.10:g.248860797_248860800del, NC_000001.10:g.248860798_248860800del, NC_000001.10:g.248860799_248860800del, NC_000001.10:g.248860800del, NC_000001.10:g.248860800dup, NC_000001.10:g.248860799_248860800dup, NC_000001.10:g.248860798_248860800dup, NC_000001.10:g.248860797_248860800dup, NC_000001.10:g.248860796_248860800dup, NC_000001.10:g.248860795_248860800dup, NC_000001.10:g.248860794_248860800dup, NC_000001.10:g.248860790_248860800dup
4.
rs1490988589 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:248695867
(GRCh38)
1:248859168
(GRCh37)
- Canonical SPDI:
- NC_000001.11:248695866:C:T
- Gene:
- OR14I1 (Varview), LYPD9P (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000177/3
(TOMMO)
T=0.001092/2
(Korea1K)
- HGVS:
5.
rs1490732313 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 1:248695200
(GRCh38)
1:248858502
(GRCh37)
- Canonical SPDI:
- NC_000001.11:248695200:TTTTT:TTTTTT
- Gene:
- OR14I1 (Varview), LYPD9P (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
TTTTTT=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
7.
rs1490434544 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:248699067
(GRCh38)
1:248862368
(GRCh37)
- Canonical SPDI:
- NC_000001.11:248699066:C:T
- Gene:
- OR14I1 (Varview), LYPD9P (Varview)
- Functional Consequence:
- non_coding_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by cluster
- MAF:
T=0.012/22
(Korea1K)
- HGVS:
8.
rs1490267321 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:248697654
(GRCh38)
1:248860955
(GRCh37)
- Canonical SPDI:
- NC_000001.11:248697653:A:G
- Gene:
- OR14I1 (Varview), LYPD9P (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by cluster
- MAF:
G=0.0003/1
(KOREAN)
- HGVS:
9.
rs1490168823 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:248696434
(GRCh38)
1:248859735
(GRCh37)
- Canonical SPDI:
- NC_000001.11:248696433:G:A
- Gene:
- OR14I1 (Varview), LYPD9P (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
10.
rs1489753829 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:248696879
(GRCh38)
1:248860180
(GRCh37)
- Canonical SPDI:
- NC_000001.11:248696878:G:A
- Gene:
- OR14I1 (Varview), LYPD9P (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
12.
rs1488916895 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:248696801
(GRCh38)
1:248860102
(GRCh37)
- Canonical SPDI:
- NC_000001.11:248696800:T:C
- Gene:
- OR14I1 (Varview), LYPD9P (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
13.
rs1488780701 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 1:248697797
(GRCh38)
1:248861098
(GRCh37)
- Canonical SPDI:
- NC_000001.11:248697796:A:T
- Gene:
- OR14I1 (Varview), LYPD9P (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000021/3
(GnomAD)
- HGVS:
14.
rs1488730715 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 1:248695308
(GRCh38)
1:248858609
(GRCh37)
- Canonical SPDI:
- NC_000001.11:248695307:A:C
- Gene:
- OR14I1 (Varview), LYPD9P (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000016/2
(GnomAD)
- HGVS:
15.
rs1488213787 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:248698678
(GRCh38)
1:248861979
(GRCh37)
- Canonical SPDI:
- NC_000001.11:248698677:A:G
- Gene:
- OR14I1 (Varview), LYPD9P (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000045/12
(TOPMED)
- HGVS:
16.
rs1487974269 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 1:248698208
(GRCh38)
1:248861509
(GRCh37)
- Canonical SPDI:
- NC_000001.11:248698207:A:G,NC_000001.11:248698207:A:T
- Gene:
- OR14I1 (Varview), LYPD9P (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
T=0.000011/3
(TOPMED)
G=0.000312/2
(1000Genomes)
- HGVS:
17.
rs1486914497 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:248696273
(GRCh38)
1:248859574
(GRCh37)
- Canonical SPDI:
- NC_000001.11:248696272:G:A
- Gene:
- OR14I1 (Varview), LYPD9P (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
A=0.000342/1
(KOREAN)
- HGVS:
18.
rs1486773385 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- ACCAGCC>-
[Show Flanks]
- Chromosome:
- 1:248697586
(GRCh38)
1:248860887
(GRCh37)
- Canonical SPDI:
- NC_000001.11:248697585:ACCAGCC:
- Gene:
- OR14I1 (Varview), LYPD9P (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000086/12
(GnomAD)
- HGVS:
19.
rs1485995911 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 1:248695126
(GRCh38)
1:248858427
(GRCh37)
- Canonical SPDI:
- NC_000001.11:248695125:T:C,NC_000001.11:248695125:T:G
- Gene:
- OR14I1 (Varview), LYPD9P (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
G=0.001092/2
(Korea1K)
- HGVS: