Links from Gene
Items: 1 to 20 of 21557
3.
rs1491537762 has merged into rs145976320 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TCTCTCTCTCTC>-,TCTC,TCTCTCTC,TCTCTCTCTC,TCTCTCTCTCTCTC,TCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTCTCTCTC
[Show Flanks]
- Chromosome:
- 1:158787625
(GRCh38)
1:158757415
(GRCh37)
- Canonical SPDI:
- NC_000001.11:158787620:TCTCTCTCTCTCTCTC:TCTC,NC_000001.11:158787620:TCTCTCTCTCTCTCTC:TCTCTCTC,NC_000001.11:158787620:TCTCTCTCTCTCTCTC:TCTCTCTCTCTC,NC_000001.11:158787620:TCTCTCTCTCTCTCTC:TCTCTCTCTCTCTC,NC_000001.11:158787620:TCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTC,NC_000001.11:158787620:TCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTC,NC_000001.11:158787620:TCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTC,NC_000001.11:158787620:TCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTC,NC_000001.11:158787620:TCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000001.11:158787620:TCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000001.11:158787620:TCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000001.11:158787620:TCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC
- Gene:
- OR6N1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000001.11:g.158787621TC[2], NC_000001.11:g.158787621TC[4], NC_000001.11:g.158787621TC[6], NC_000001.11:g.158787621TC[7], NC_000001.11:g.158787621TC[9], NC_000001.11:g.158787621TC[10], NC_000001.11:g.158787621TC[11], NC_000001.11:g.158787621TC[12], NC_000001.11:g.158787621TC[13], NC_000001.11:g.158787621TC[14], NC_000001.11:g.158787621TC[15], NC_000001.11:g.158787621TC[16], NC_000001.10:g.158757411TC[2], NC_000001.10:g.158757411TC[4], NC_000001.10:g.158757411TC[6], NC_000001.10:g.158757411TC[7], NC_000001.10:g.158757411TC[9], NC_000001.10:g.158757411TC[10], NC_000001.10:g.158757411TC[11], NC_000001.10:g.158757411TC[12], NC_000001.10:g.158757411TC[13], NC_000001.10:g.158757411TC[14], NC_000001.10:g.158757411TC[15], NC_000001.10:g.158757411TC[16]
4.
rs1491508745 has merged into rs11424954 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTT>-,TT,TTTT,TTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 1:158813707
(GRCh38)
1:158783497
(GRCh37)
- Canonical SPDI:
- NC_000001.11:158813697:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000001.11:158813697:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:158813697:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:158813697:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:158813697:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:158813697:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:158813697:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:158813697:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:158813697:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:158813697:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:158813697:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:158813697:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:158813697:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:158813697:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:158813697:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:158813697:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:158813697:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:158813697:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:158813697:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:158813697:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:158813697:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:158813697:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- OR6N1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000001.11:g.158813707_158813720del, NC_000001.11:g.158813709_158813720del, NC_000001.11:g.158813711_158813720del, NC_000001.11:g.158813713_158813720del, NC_000001.11:g.158813715_158813720del, NC_000001.11:g.158813717_158813720del, NC_000001.11:g.158813718_158813720del, NC_000001.11:g.158813719_158813720del, NC_000001.11:g.158813720del, NC_000001.11:g.158813720dup, NC_000001.11:g.158813719_158813720dup, NC_000001.11:g.158813718_158813720dup, NC_000001.11:g.158813717_158813720dup, NC_000001.11:g.158813716_158813720dup, NC_000001.11:g.158813715_158813720dup, NC_000001.11:g.158813714_158813720dup, NC_000001.11:g.158813713_158813720dup, NC_000001.11:g.158813712_158813720dup, NC_000001.11:g.158813711_158813720dup, NC_000001.11:g.158813710_158813720dup, NC_000001.11:g.158813707_158813720dup, NC_000001.11:g.158813703_158813720dup, NC_000001.10:g.158783497_158783510del, NC_000001.10:g.158783499_158783510del, NC_000001.10:g.158783501_158783510del, NC_000001.10:g.158783503_158783510del, NC_000001.10:g.158783505_158783510del, NC_000001.10:g.158783507_158783510del, NC_000001.10:g.158783508_158783510del, NC_000001.10:g.158783509_158783510del, NC_000001.10:g.158783510del, NC_000001.10:g.158783510dup, NC_000001.10:g.158783509_158783510dup, NC_000001.10:g.158783508_158783510dup, NC_000001.10:g.158783507_158783510dup, NC_000001.10:g.158783506_158783510dup, NC_000001.10:g.158783505_158783510dup, NC_000001.10:g.158783504_158783510dup, NC_000001.10:g.158783503_158783510dup, NC_000001.10:g.158783502_158783510dup, NC_000001.10:g.158783501_158783510dup, NC_000001.10:g.158783500_158783510dup, NC_000001.10:g.158783497_158783510dup, NC_000001.10:g.158783493_158783510dup
6.
rs1491471802 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->AGTT
[Show Flanks]
- Chromosome:
- 1:158748171
(GRCh38)
1:158717962
(GRCh37)
- Canonical SPDI:
- NC_000001.11:158748171:AGTT:AGTTAGTT
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AGTTAGTT=0./0
(
ALFA)
AGTT=0.000004/1
(TOPMED)
AGTT=0.000007/1
(GnomAD)
- HGVS:
7.
rs1491436176 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 1:158753929
(GRCh38)
1:158723719
(GRCh37)
- Canonical SPDI:
- NC_000001.11:158753927:ATA:A
- Gene:
- OR6K6 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
- HGVS:
8.
rs1491305337 has merged into rs1202516568 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CACACACACACACACA>-,CA,CACA,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACA
[Show Flanks]
- Chromosome:
- 1:158787656
(GRCh38)
1:158757446
(GRCh37)
- Canonical SPDI:
- NC_000001.11:158787635:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACA,NC_000001.11:158787635:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACA,NC_000001.11:158787635:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACA,NC_000001.11:158787635:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACA,NC_000001.11:158787635:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACA,NC_000001.11:158787635:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACA,NC_000001.11:158787635:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACA,NC_000001.11:158787635:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACA,NC_000001.11:158787635:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACA,NC_000001.11:158787635:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACA,NC_000001.11:158787635:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACA,NC_000001.11:158787635:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACA,NC_000001.11:158787635:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACA,NC_000001.11:158787635:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACA,NC_000001.11:158787635:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000001.11:158787635:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000001.11:158787635:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000001.11:158787635:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACA
- Gene:
- OR6N1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CACACACACACACACACACACA=0./0
(
ALFA)
- HGVS:
NC_000001.11:g.158787636CA[10], NC_000001.11:g.158787636CA[11], NC_000001.11:g.158787636CA[12], NC_000001.11:g.158787636CA[13], NC_000001.11:g.158787636CA[14], NC_000001.11:g.158787636CA[15], NC_000001.11:g.158787636CA[16], NC_000001.11:g.158787636CA[17], NC_000001.11:g.158787636CA[19], NC_000001.11:g.158787636CA[20], NC_000001.11:g.158787636CA[21], NC_000001.11:g.158787636CA[22], NC_000001.11:g.158787636CA[23], NC_000001.11:g.158787636CA[24], NC_000001.11:g.158787636CA[25], NC_000001.11:g.158787636CA[26], NC_000001.11:g.158787636CA[27], NC_000001.11:g.158787636CA[28], NC_000001.10:g.158757426CA[10], NC_000001.10:g.158757426CA[11], NC_000001.10:g.158757426CA[12], NC_000001.10:g.158757426CA[13], NC_000001.10:g.158757426CA[14], NC_000001.10:g.158757426CA[15], NC_000001.10:g.158757426CA[16], NC_000001.10:g.158757426CA[17], NC_000001.10:g.158757426CA[19], NC_000001.10:g.158757426CA[20], NC_000001.10:g.158757426CA[21], NC_000001.10:g.158757426CA[22], NC_000001.10:g.158757426CA[23], NC_000001.10:g.158757426CA[24], NC_000001.10:g.158757426CA[25], NC_000001.10:g.158757426CA[26], NC_000001.10:g.158757426CA[27], NC_000001.10:g.158757426CA[28]
9.
rs1491299430 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 1:158748171
(GRCh38)
1:158717961
(GRCh37)
- Canonical SPDI:
- NC_000001.11:158748170:CA:
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
10.
rs1491255557 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->ATCTCTC
[Show Flanks]
- Chromosome:
- 1:158787619
(GRCh38)
1:158757410
(GRCh37)
- Canonical SPDI:
- NC_000001.11:158787619:ATCTCTC:ATCTCTCATCTCTC
- Gene:
- OR6N1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
ATCTCTCATCTCTC=0.000084/1
(
ALFA)
ATCTCTC=0.000009/1
(GnomAD)
- HGVS:
11.
rs1491236966 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 1:158836151
(GRCh38)
1:158805941
(GRCh37)
- Canonical SPDI:
- NC_000001.11:158836150:AT:
- Gene:
- MNDA (Varview), OR6N1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000038/10
(TOPMED)
- HGVS:
12.
rs1491178704 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 1:158787620
(GRCh38)
1:158757410
(GRCh37)
- Canonical SPDI:
- NC_000001.11:158787618:TAT:T
- Gene:
- OR6N1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000061/1
(
ALFA)
-=0.0006/69
(GnomAD)
- HGVS:
13.
rs1491173360 has merged into rs113289414 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,T,TTT,TTTT,TTTTT,TTTTTT
[Show Flanks]
- Chromosome:
- 1:158761675
(GRCh38)
1:158731465
(GRCh37)
- Canonical SPDI:
- NC_000001.11:158761666:TTTTTTTTTT:TTTTTTTT,NC_000001.11:158761666:TTTTTTTTTT:TTTTTTTTT,NC_000001.11:158761666:TTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:158761666:TTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:158761666:TTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:158761666:TTTTTTTTTT:TTTTTTTTTTTTTT
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTT=0.0004/2
(
ALFA)
-=0.3706/1081
(1000Genomes)
- HGVS:
NC_000001.11:g.158761675_158761676del, NC_000001.11:g.158761676del, NC_000001.11:g.158761676dup, NC_000001.11:g.158761675_158761676dup, NC_000001.11:g.158761674_158761676dup, NC_000001.11:g.158761673_158761676dup, NC_000001.10:g.158731465_158731466del, NC_000001.10:g.158731466del, NC_000001.10:g.158731466dup, NC_000001.10:g.158731465_158731466dup, NC_000001.10:g.158731464_158731466dup, NC_000001.10:g.158731463_158731466dup
14.
rs1491160639 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->T,TT
[Show Flanks]
- Chromosome:
- 1:158787636
(GRCh38)
1:158757427
(GRCh37)
- Canonical SPDI:
- NC_000001.11:158787636::T,NC_000001.11:158787636::TT
- Gene:
- OR6N1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.00009/1
(
ALFA)
T=0.00003/2
(GnomAD)
TT=0.00505/138
(TOMMO)
- HGVS:
15.
rs1491136241 has merged into rs60081425 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 1:158761077
(GRCh38)
1:158730867
(GRCh37)
- Canonical SPDI:
- NC_000001.11:158761064:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:158761064:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:158761064:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:158761064:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:158761064:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:158761064:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:158761064:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:158761064:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:158761064:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:158761064:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:158761064:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:158761064:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:158761064:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:158761064:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:158761064:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:158761064:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:158761064:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:158761064:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:158761064:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:158761064:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:158761064:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:158761064:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:158761064:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:158761064:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000001.11:g.158761077_158761089del, NC_000001.11:g.158761078_158761089del, NC_000001.11:g.158761079_158761089del, NC_000001.11:g.158761080_158761089del, NC_000001.11:g.158761082_158761089del, NC_000001.11:g.158761083_158761089del, NC_000001.11:g.158761084_158761089del, NC_000001.11:g.158761085_158761089del, NC_000001.11:g.158761086_158761089del, NC_000001.11:g.158761087_158761089del, NC_000001.11:g.158761088_158761089del, NC_000001.11:g.158761089del, NC_000001.11:g.158761089dup, NC_000001.11:g.158761088_158761089dup, NC_000001.11:g.158761087_158761089dup, NC_000001.11:g.158761086_158761089dup, NC_000001.11:g.158761085_158761089dup, NC_000001.11:g.158761084_158761089dup, NC_000001.11:g.158761083_158761089dup, NC_000001.11:g.158761082_158761089dup, NC_000001.11:g.158761081_158761089dup, NC_000001.11:g.158761080_158761089dup, NC_000001.11:g.158761077_158761089dup, NC_000001.11:g.158761074_158761089dup, NC_000001.10:g.158730867_158730879del, NC_000001.10:g.158730868_158730879del, NC_000001.10:g.158730869_158730879del, NC_000001.10:g.158730870_158730879del, NC_000001.10:g.158730872_158730879del, NC_000001.10:g.158730873_158730879del, NC_000001.10:g.158730874_158730879del, NC_000001.10:g.158730875_158730879del, NC_000001.10:g.158730876_158730879del, NC_000001.10:g.158730877_158730879del, NC_000001.10:g.158730878_158730879del, NC_000001.10:g.158730879del, NC_000001.10:g.158730879dup, NC_000001.10:g.158730878_158730879dup, NC_000001.10:g.158730877_158730879dup, NC_000001.10:g.158730876_158730879dup, NC_000001.10:g.158730875_158730879dup, NC_000001.10:g.158730874_158730879dup, NC_000001.10:g.158730873_158730879dup, NC_000001.10:g.158730872_158730879dup, NC_000001.10:g.158730871_158730879dup, NC_000001.10:g.158730870_158730879dup, NC_000001.10:g.158730867_158730879dup, NC_000001.10:g.158730864_158730879dup
17.
rs1491022622 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AG>-
[Show Flanks]
- Chromosome:
- 1:158765950
(GRCh38)
1:158735740
(GRCh37)
- Canonical SPDI:
- NC_000001.11:158765949:AG:
- Gene:
- OR6N1 (Varview)
- Functional Consequence:
- frameshift_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000038/10
(TOPMED)
- HGVS:
NC_000001.11:g.158765950_158765951del, NC_000001.10:g.158735740_158735741del, XM_017000326.2:c.732_733del, XM_017000326.1:c.732_733del, XM_017000325.2:c.732_733del, XM_017000325.1:c.732_733del, XM_017000327.2:c.732_733del, XM_017000327.1:c.732_733del, NM_001005185.2:c.732_733del, NM_001005185.1:c.732_733del, XP_016855815.1:p.Phe245fs, XP_016855814.1:p.Phe245fs, XP_016855816.1:p.Phe245fs, NP_001005185.1:p.Phe245fs
18.
rs1491010077 has merged into rs34494971 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,A,AAA,AAAA,AAAAAAAAA
[Show Flanks]
- Chromosome:
- 1:158754688
(GRCh38)
1:158724478
(GRCh37)
- Canonical SPDI:
- NC_000001.11:158754679:AAAAAAAAAA:AAAAAAAA,NC_000001.11:158754679:AAAAAAAAAA:AAAAAAAAA,NC_000001.11:158754679:AAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:158754679:AAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:158754679:AAAAAAAAAA:AAAAAAAAAAAAAAAAA
- Gene:
- OR6K6 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAA=0./0
(
ALFA)
-=0.12391/227
(Korea1K)
-=0.21565/1080
(1000Genomes)
- HGVS:
19.
rs1490959959 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 1:158800342
(GRCh38)
1:158770132
(GRCh37)
- Canonical SPDI:
- NC_000001.11:158800341:C:A
- Gene:
- OR6N1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS: