Links from Gene
Items: 1 to 20 of 1000
1.
rs1491441398 has merged into rs59555267 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTT>-,T,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 9:124805820
(GRCh38)
9:127568099
(GRCh37)
- Canonical SPDI:
- NC_000009.12:124805808:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000009.12:124805808:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000009.12:124805808:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000009.12:124805808:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000009.12:124805808:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000009.12:124805808:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000009.12:124805808:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000009.12:124805808:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000009.12:124805808:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:124805808:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:124805808:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:124805808:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:124805808:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:124805808:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:124805808:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:124805808:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:124805808:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:124805808:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:124805808:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:124805808:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:124805808:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:124805808:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:124805808:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:124805808:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:124805808:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:124805808:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:124805808:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:124805808:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:124805808:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:124805808:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:124805808:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:124805808:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:124805808:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:124805808:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:124805808:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:124805808:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:124805808:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:124805808:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- OLFML2A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTT=0./0
(
ALFA)
-=0.000015/4
(TOPMED)
- HGVS:
NC_000009.12:g.124805820_124805833del, NC_000009.12:g.124805821_124805833del, NC_000009.12:g.124805823_124805833del, NC_000009.12:g.124805825_124805833del, NC_000009.12:g.124805826_124805833del, NC_000009.12:g.124805827_124805833del, NC_000009.12:g.124805829_124805833del, NC_000009.12:g.124805830_124805833del, NC_000009.12:g.124805831_124805833del, NC_000009.12:g.124805832_124805833del, NC_000009.12:g.124805833del, NC_000009.12:g.124805833dup, NC_000009.12:g.124805832_124805833dup, NC_000009.12:g.124805831_124805833dup, NC_000009.12:g.124805830_124805833dup, NC_000009.12:g.124805829_124805833dup, NC_000009.12:g.124805828_124805833dup, NC_000009.12:g.124805827_124805833dup, NC_000009.12:g.124805826_124805833dup, NC_000009.12:g.124805825_124805833dup, NC_000009.12:g.124805824_124805833dup, NC_000009.12:g.124805823_124805833dup, NC_000009.12:g.124805822_124805833dup, NC_000009.12:g.124805821_124805833dup, NC_000009.12:g.124805820_124805833dup, NC_000009.12:g.124805819_124805833dup, NC_000009.12:g.124805818_124805833dup, NC_000009.12:g.124805817_124805833dup, NC_000009.12:g.124805816_124805833dup, NC_000009.12:g.124805815_124805833dup, NC_000009.12:g.124805814_124805833dup, NC_000009.12:g.124805813_124805833dup, NC_000009.12:g.124805812_124805833dup, NC_000009.12:g.124805811_124805833dup, NC_000009.12:g.124805810_124805833dup, NC_000009.12:g.124805809_124805833dup, NC_000009.12:g.124805833_124805834insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.12:g.124805833_124805834insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.127568099_127568112del, NC_000009.11:g.127568100_127568112del, NC_000009.11:g.127568102_127568112del, NC_000009.11:g.127568104_127568112del, NC_000009.11:g.127568105_127568112del, NC_000009.11:g.127568106_127568112del, NC_000009.11:g.127568108_127568112del, NC_000009.11:g.127568109_127568112del, NC_000009.11:g.127568110_127568112del, NC_000009.11:g.127568111_127568112del, NC_000009.11:g.127568112del, NC_000009.11:g.127568112dup, NC_000009.11:g.127568111_127568112dup, NC_000009.11:g.127568110_127568112dup, NC_000009.11:g.127568109_127568112dup, NC_000009.11:g.127568108_127568112dup, NC_000009.11:g.127568107_127568112dup, NC_000009.11:g.127568106_127568112dup, NC_000009.11:g.127568105_127568112dup, NC_000009.11:g.127568104_127568112dup, NC_000009.11:g.127568103_127568112dup, NC_000009.11:g.127568102_127568112dup, NC_000009.11:g.127568101_127568112dup, NC_000009.11:g.127568100_127568112dup, NC_000009.11:g.127568099_127568112dup, NC_000009.11:g.127568098_127568112dup, NC_000009.11:g.127568097_127568112dup, NC_000009.11:g.127568096_127568112dup, NC_000009.11:g.127568095_127568112dup, NC_000009.11:g.127568094_127568112dup, NC_000009.11:g.127568093_127568112dup, NC_000009.11:g.127568092_127568112dup, NC_000009.11:g.127568091_127568112dup, NC_000009.11:g.127568090_127568112dup, NC_000009.11:g.127568089_127568112dup, NC_000009.11:g.127568088_127568112dup, NC_000009.11:g.127568112_127568113insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.127568112_127568113insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
3.
rs1491141586 has merged into rs10553820 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAAAAA>-,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 9:124791741
(GRCh38)
9:127554020
(GRCh37)
- Canonical SPDI:
- NC_000009.12:124791737:AAAAAAAAAAAAAAAAAAAAAA:AAA,NC_000009.12:124791737:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000009.12:124791737:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000009.12:124791737:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000009.12:124791737:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000009.12:124791737:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000009.12:124791737:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000009.12:124791737:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000009.12:124791737:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000009.12:124791737:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000009.12:124791737:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000009.12:124791737:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000009.12:124791737:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000009.12:124791737:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000009.12:124791737:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:124791737:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:124791737:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:124791737:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:124791737:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:124791737:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:124791737:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:124791737:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:124791737:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:124791737:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:124791737:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:124791737:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:124791737:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- OLFML2A (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAA=0./0
(
ALFA)
-=0.000019/5
(TOPMED)
- HGVS:
NC_000009.12:g.124791741_124791759del, NC_000009.12:g.124791746_124791759del, NC_000009.12:g.124791747_124791759del, NC_000009.12:g.124791748_124791759del, NC_000009.12:g.124791749_124791759del, NC_000009.12:g.124791751_124791759del, NC_000009.12:g.124791752_124791759del, NC_000009.12:g.124791753_124791759del, NC_000009.12:g.124791754_124791759del, NC_000009.12:g.124791755_124791759del, NC_000009.12:g.124791756_124791759del, NC_000009.12:g.124791757_124791759del, NC_000009.12:g.124791758_124791759del, NC_000009.12:g.124791759del, NC_000009.12:g.124791759dup, NC_000009.12:g.124791758_124791759dup, NC_000009.12:g.124791757_124791759dup, NC_000009.12:g.124791756_124791759dup, NC_000009.12:g.124791755_124791759dup, NC_000009.12:g.124791754_124791759dup, NC_000009.12:g.124791753_124791759dup, NC_000009.12:g.124791752_124791759dup, NC_000009.12:g.124791751_124791759dup, NC_000009.12:g.124791750_124791759dup, NC_000009.12:g.124791749_124791759dup, NC_000009.12:g.124791748_124791759dup, NC_000009.12:g.124791744_124791759dup, NC_000009.11:g.127554020_127554038del, NC_000009.11:g.127554025_127554038del, NC_000009.11:g.127554026_127554038del, NC_000009.11:g.127554027_127554038del, NC_000009.11:g.127554028_127554038del, NC_000009.11:g.127554030_127554038del, NC_000009.11:g.127554031_127554038del, NC_000009.11:g.127554032_127554038del, NC_000009.11:g.127554033_127554038del, NC_000009.11:g.127554034_127554038del, NC_000009.11:g.127554035_127554038del, NC_000009.11:g.127554036_127554038del, NC_000009.11:g.127554037_127554038del, NC_000009.11:g.127554038del, NC_000009.11:g.127554038dup, NC_000009.11:g.127554037_127554038dup, NC_000009.11:g.127554036_127554038dup, NC_000009.11:g.127554035_127554038dup, NC_000009.11:g.127554034_127554038dup, NC_000009.11:g.127554033_127554038dup, NC_000009.11:g.127554032_127554038dup, NC_000009.11:g.127554031_127554038dup, NC_000009.11:g.127554030_127554038dup, NC_000009.11:g.127554029_127554038dup, NC_000009.11:g.127554028_127554038dup, NC_000009.11:g.127554027_127554038dup, NC_000009.11:g.127554023_127554038dup
4.
rs1491097054 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 9:124791737
(GRCh38)
9:127554016
(GRCh37)
- Canonical SPDI:
- NC_000009.12:124791736:CA:
- Gene:
- OLFML2A (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00135/16
(
ALFA)
-=0.0012/33
(TOMMO)
- HGVS:
5.
rs1490819905 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:124797335
(GRCh38)
9:127559614
(GRCh37)
- Canonical SPDI:
- NC_000009.12:124797334:C:T
- Gene:
- OLFML2A (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
6.
rs1490670137 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 9:124788944
(GRCh38)
9:127551224
(GRCh37)
- Canonical SPDI:
- NC_000009.12:124788944:TTTTTT:TTTTTTT
- Gene:
- OLFML2A (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TTTTTTT=0.000071/1
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
7.
rs1490576105 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 9:124813632
(GRCh38)
9:127575911
(GRCh37)
- Canonical SPDI:
- NC_000009.12:124813631:A:G
- Gene:
- OLFML2A (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
NC_000009.12:g.124813632A>G, NC_000009.11:g.127575911A>G, XM_005251760.6:c.*3220A>G, XM_005251760.5:c.*3220A>G, XM_005251760.4:c.*3220A>G, NM_182487.4:c.*3220A>G, NM_182487.3:c.*3220A>G, NM_182487.2:c.*3220A>G, XM_006716989.3:c.*3220A>G, XM_006716989.2:c.*3220A>G, XM_006716989.1:c.*3220A>G, NM_001282715.2:c.*3220A>G, NM_001282715.1:c.*3220A>G
8.
rs1490555934 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:124782818
(GRCh38)
9:127545097
(GRCh37)
- Canonical SPDI:
- NC_000009.12:124782817:G:A
- Gene:
- OLFML2A (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000021/3
(GnomAD)
- HGVS:
9.
rs1490350192 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 9:124801019
(GRCh38)
9:127563298
(GRCh37)
- Canonical SPDI:
- NC_000009.12:124801018:A:G
- Gene:
- OLFML2A (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000006/1
(GnomAD_exomes)
G=0.000011/3
(TOPMED)
G=0.000021/3
(GnomAD)
- HGVS:
10.
rs1490344989 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 9:124790033
(GRCh38)
9:127552312
(GRCh37)
- Canonical SPDI:
- NC_000009.12:124790032:T:A
- Gene:
- OLFML2A (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
12.
rs1490286689 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 9:124775551
(GRCh38)
9:127537830
(GRCh37)
- Canonical SPDI:
- NC_000009.12:124775550:G:T
- Gene:
- OLFML2A (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
T=0.000011/3
(TOPMED)
- HGVS:
13.
rs1490285563 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 9:124778316
(GRCh38)
9:127540595
(GRCh37)
- Canonical SPDI:
- NC_000009.12:124778315:G:C
- Gene:
- OLFML2A (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.00383/71
(
ALFA)
C=0.00821/24
(KOREAN)
- HGVS:
14.
rs1490048145 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:124804143
(GRCh38)
9:127566422
(GRCh37)
- Canonical SPDI:
- NC_000009.12:124804142:G:A
- Gene:
- OLFML2A (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant,intron_variant
- Validated:
- by frequency
- MAF:
A=0.000004/1
(GnomAD_exomes)
- HGVS:
15.
rs1490025278 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:124805946
(GRCh38)
9:127568225
(GRCh37)
- Canonical SPDI:
- NC_000009.12:124805945:G:A
- Gene:
- OLFML2A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
16.
rs1490001224 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:124796213
(GRCh38)
9:127558492
(GRCh37)
- Canonical SPDI:
- NC_000009.12:124796212:G:A
- Gene:
- OLFML2A (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
17.
rs1489860653 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 9:124801592
(GRCh38)
9:127563871
(GRCh37)
- Canonical SPDI:
- NC_000009.12:124801591:A:G
- Gene:
- OLFML2A (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency
- MAF:
G=0.000004/1
(GnomAD_exomes)
- HGVS:
NC_000009.12:g.124801592A>G, NC_000009.11:g.127563871A>G, XM_005251760.6:c.848A>G, XM_005251760.5:c.848A>G, XM_005251760.4:c.848A>G, XM_005251760.3:c.848A>G, XM_005251760.2:c.848A>G, XM_005251760.1:c.848A>G, NM_182487.4:c.848A>G, NM_182487.3:c.848A>G, NM_182487.2:c.848A>G, XM_006716989.3:c.740A>G, XM_006716989.2:c.740A>G, XM_006716989.1:c.740A>G, NM_001282715.2:c.206A>G, NM_001282715.1:c.206A>G, XP_005251817.1:p.Gln283Arg, NP_872293.2:p.Gln283Arg, XP_006717052.1:p.Gln247Arg, NP_001269644.1:p.Gln69Arg
18.
rs1489848910 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTGT>-
[Show Flanks]
- Chromosome:
- 9:124798911
(GRCh38)
9:127561190
(GRCh37)
- Canonical SPDI:
- NC_000009.12:124798907:TGTGTGT:TGT
- Gene:
- OLFML2A (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
TGT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
19.
rs1489814480 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:124797851
(GRCh38)
9:127560130
(GRCh37)
- Canonical SPDI:
- NC_000009.12:124797850:G:A
- Gene:
- OLFML2A (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
A=0.000019/5
(TOPMED)
- HGVS:
20.
rs1489714321 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:124783565
(GRCh38)
9:127545844
(GRCh37)
- Canonical SPDI:
- NC_000009.12:124783564:C:T
- Gene:
- OLFML2A (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS: