Links from Gene
Items: 1 to 20 of 1000
1.
rs1491464719 has merged into rs1166517767 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAAAAAAA>-,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 15:41329071
(GRCh38)
15:41621269
(GRCh37)
- Canonical SPDI:
- NC_000015.10:41329063:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAA,NC_000015.10:41329063:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000015.10:41329063:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000015.10:41329063:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000015.10:41329063:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000015.10:41329063:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000015.10:41329063:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000015.10:41329063:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000015.10:41329063:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000015.10:41329063:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000015.10:41329063:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000015.10:41329063:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000015.10:41329063:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:41329063:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:41329063:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:41329063:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:41329063:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:41329063:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:41329063:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:41329063:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:41329063:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:41329063:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:41329063:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:41329063:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:41329063:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:41329063:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:41329063:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:41329063:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:41329063:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:41329063:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:41329063:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:41329063:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:41329063:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- OIP5 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000015.10:g.41329071_41329091del, NC_000015.10:g.41329074_41329091del, NC_000015.10:g.41329076_41329091del, NC_000015.10:g.41329077_41329091del, NC_000015.10:g.41329078_41329091del, NC_000015.10:g.41329079_41329091del, NC_000015.10:g.41329080_41329091del, NC_000015.10:g.41329081_41329091del, NC_000015.10:g.41329082_41329091del, NC_000015.10:g.41329083_41329091del, NC_000015.10:g.41329084_41329091del, NC_000015.10:g.41329085_41329091del, NC_000015.10:g.41329086_41329091del, NC_000015.10:g.41329087_41329091del, NC_000015.10:g.41329088_41329091del, NC_000015.10:g.41329089_41329091del, NC_000015.10:g.41329090_41329091del, NC_000015.10:g.41329091del, NC_000015.10:g.41329091dup, NC_000015.10:g.41329090_41329091dup, NC_000015.10:g.41329089_41329091dup, NC_000015.10:g.41329088_41329091dup, NC_000015.10:g.41329087_41329091dup, NC_000015.10:g.41329086_41329091dup, NC_000015.10:g.41329085_41329091dup, NC_000015.10:g.41329084_41329091dup, NC_000015.10:g.41329083_41329091dup, NC_000015.10:g.41329082_41329091dup, NC_000015.10:g.41329081_41329091dup, NC_000015.10:g.41329080_41329091dup, NC_000015.10:g.41329076_41329091dup, NC_000015.10:g.41329073_41329091dup, NC_000015.10:g.41329071_41329091dup, NC_000015.9:g.41621269_41621289del, NC_000015.9:g.41621272_41621289del, NC_000015.9:g.41621274_41621289del, NC_000015.9:g.41621275_41621289del, NC_000015.9:g.41621276_41621289del, NC_000015.9:g.41621277_41621289del, NC_000015.9:g.41621278_41621289del, NC_000015.9:g.41621279_41621289del, NC_000015.9:g.41621280_41621289del, NC_000015.9:g.41621281_41621289del, NC_000015.9:g.41621282_41621289del, NC_000015.9:g.41621283_41621289del, NC_000015.9:g.41621284_41621289del, NC_000015.9:g.41621285_41621289del, NC_000015.9:g.41621286_41621289del, NC_000015.9:g.41621287_41621289del, NC_000015.9:g.41621288_41621289del, NC_000015.9:g.41621289del, NC_000015.9:g.41621289dup, NC_000015.9:g.41621288_41621289dup, NC_000015.9:g.41621287_41621289dup, NC_000015.9:g.41621286_41621289dup, NC_000015.9:g.41621285_41621289dup, NC_000015.9:g.41621284_41621289dup, NC_000015.9:g.41621283_41621289dup, NC_000015.9:g.41621282_41621289dup, NC_000015.9:g.41621281_41621289dup, NC_000015.9:g.41621280_41621289dup, NC_000015.9:g.41621279_41621289dup, NC_000015.9:g.41621278_41621289dup, NC_000015.9:g.41621274_41621289dup, NC_000015.9:g.41621271_41621289dup, NC_000015.9:g.41621269_41621289dup
3.
rs1491357872 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 15:41323985
(GRCh38)
15:41616183
(GRCh37)
- Canonical SPDI:
- NC_000015.10:41323984:CT:
- Gene:
- OIP5 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.000123/2
(
ALFA)
-=0.000019/2
(GnomAD)
- HGVS:
4.
rs1491203910 has merged into rs869073906 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 15:41323997
(GRCh38)
15:41616195
(GRCh37)
- Canonical SPDI:
- NC_000015.10:41323985:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000015.10:41323985:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000015.10:41323985:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000015.10:41323985:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000015.10:41323985:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000015.10:41323985:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000015.10:41323985:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000015.10:41323985:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000015.10:41323985:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000015.10:41323985:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:41323985:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:41323985:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:41323985:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:41323985:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:41323985:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:41323985:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:41323985:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- OIP5 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
NC_000015.10:g.41323997_41324007del, NC_000015.10:g.41324000_41324007del, NC_000015.10:g.41324001_41324007del, NC_000015.10:g.41324002_41324007del, NC_000015.10:g.41324003_41324007del, NC_000015.10:g.41324004_41324007del, NC_000015.10:g.41324005_41324007del, NC_000015.10:g.41324006_41324007del, NC_000015.10:g.41324007del, NC_000015.10:g.41324007dup, NC_000015.10:g.41324006_41324007dup, NC_000015.10:g.41324005_41324007dup, NC_000015.10:g.41324004_41324007dup, NC_000015.10:g.41324003_41324007dup, NC_000015.10:g.41324002_41324007dup, NC_000015.10:g.41324001_41324007dup, NC_000015.10:g.41324007_41324008insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.9:g.41616195_41616205del, NC_000015.9:g.41616198_41616205del, NC_000015.9:g.41616199_41616205del, NC_000015.9:g.41616200_41616205del, NC_000015.9:g.41616201_41616205del, NC_000015.9:g.41616202_41616205del, NC_000015.9:g.41616203_41616205del, NC_000015.9:g.41616204_41616205del, NC_000015.9:g.41616205del, NC_000015.9:g.41616205dup, NC_000015.9:g.41616204_41616205dup, NC_000015.9:g.41616203_41616205dup, NC_000015.9:g.41616202_41616205dup, NC_000015.9:g.41616201_41616205dup, NC_000015.9:g.41616200_41616205dup, NC_000015.9:g.41616199_41616205dup, NC_000015.9:g.41616205_41616206insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
5.
rs1491030558 has merged into rs140711980 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTT>-,T,TT,TTT,TTTTT,TTTTTT
[Show Flanks]
- Chromosome:
- 15:41334106
(GRCh38)
15:41626304
(GRCh37)
- Canonical SPDI:
- NC_000015.10:41334099:TTTTTTTTTT:TTTTTT,NC_000015.10:41334099:TTTTTTTTTT:TTTTTTT,NC_000015.10:41334099:TTTTTTTTTT:TTTTTTTT,NC_000015.10:41334099:TTTTTTTTTT:TTTTTTTTT,NC_000015.10:41334099:TTTTTTTTTT:TTTTTTTTTTT,NC_000015.10:41334099:TTTTTTTTTT:TTTTTTTTTTTT
- Gene:
- OIP5 (Varview), NUSAP1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTT=0./0
(
ALFA)
-=0.00493/19
(ALSPAC)
-=0.025/1
(GENOME_DK)
-=0.028333/17
(NorthernSweden)
-=0.046092/46
(GoNL)
-=0.092833/24572
(TOPMED)
-=0.099572/489
(1000Genomes)
-=0.176671/2961
(TOMMO)
- HGVS:
NC_000015.10:g.41334106_41334109del, NC_000015.10:g.41334107_41334109del, NC_000015.10:g.41334108_41334109del, NC_000015.10:g.41334109del, NC_000015.10:g.41334109dup, NC_000015.10:g.41334108_41334109dup, NC_000015.9:g.41626304_41626307del, NC_000015.9:g.41626305_41626307del, NC_000015.9:g.41626306_41626307del, NC_000015.9:g.41626307del, NC_000015.9:g.41626307dup, NC_000015.9:g.41626306_41626307dup
6.
rs1490995860 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 15:41318971
(GRCh38)
15:41611169
(GRCh37)
- Canonical SPDI:
- NC_000015.10:41318970:G:A
- Gene:
- OIP5 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000011/3
(TOPMED)
- HGVS:
7.
rs1490981053 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 15:41320790
(GRCh38)
15:41612988
(GRCh37)
- Canonical SPDI:
- NC_000015.10:41320789:A:G
- Gene:
- OIP5 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000084/1
(
ALFA)
G=0.000096/13
(GnomAD)
- HGVS:
8.
rs1490905035 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 15:41333489
(GRCh38)
15:41625687
(GRCh37)
- Canonical SPDI:
- NC_000015.10:41333488:T:A
- Gene:
- OIP5 (Varview), NUSAP1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_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:
9.
rs1490558276 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 15:41331607
(GRCh38)
15:41623805
(GRCh37)
- Canonical SPDI:
- NC_000015.10:41331606:T:C
- Gene:
- OIP5 (Varview), NUSAP1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
10.
rs1490505201 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 15:41317856
(GRCh38)
15:41610054
(GRCh37)
- Canonical SPDI:
- NC_000015.10:41317855:T:A,NC_000015.10:41317855:T:C
- Gene:
- OIP5 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
A=0.000071/2
(TOMMO)
A=0.000684/2
(KOREAN)
- HGVS:
11.
rs1490489400 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 15:41320160
(GRCh38)
15:41612358
(GRCh37)
- Canonical SPDI:
- NC_000015.10:41320159:A:G
- Gene:
- OIP5 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000066/1
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
G=0.000223/1
(Estonian)
- HGVS:
12.
rs1490428906 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 15:41325849
(GRCh38)
15:41618047
(GRCh37)
- Canonical SPDI:
- NC_000015.10:41325848:C:A
- Gene:
- OIP5 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.00354/42
(
ALFA)
A=0.00081/23
(TOMMO)
A=0.15311/448
(KOREAN)
C=0.5/3
(SGDP_PRJ)
- HGVS:
13.
rs1490342776 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 15:41328650
(GRCh38)
15:41620848
(GRCh37)
- Canonical SPDI:
- NC_000015.10:41328649:C:G
- Gene:
- OIP5 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
14.
rs1490234468 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 15:41315804
(GRCh38)
15:41608002
(GRCh37)
- Canonical SPDI:
- NC_000015.10:41315802:ACA:A
- Gene:
- OIP5 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
-=0.000011/3
(TOPMED)
- HGVS:
15.
rs1490060374 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 15:41330770
(GRCh38)
15:41622968
(GRCh37)
- Canonical SPDI:
- NC_000015.10:41330769:G:A
- Gene:
- OIP5 (Varview)
- Functional Consequence:
- 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:
17.
rs1490013354 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 15:41316816
(GRCh38)
15:41609014
(GRCh37)
- Canonical SPDI:
- NC_000015.10:41316815:G:A
- Gene:
- OIP5 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
A=0.00035/6
(TOMMO)
- HGVS:
18.
rs1489998059 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 15:41319180
(GRCh38)
15:41611378
(GRCh37)
- Canonical SPDI:
- NC_000015.10:41319179:C:A
- Gene:
- OIP5 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000023/6
(TOPMED)
A=0.000036/5
(GnomAD)
- HGVS:
19.
rs1489928848 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G
[Show Flanks]
- Chromosome:
- 15:41322795
(GRCh38)
15:41614993
(GRCh37)
- Canonical SPDI:
- NC_000015.10:41322794:C:A,NC_000015.10:41322794:C:G
- Gene:
- OIP5 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
20.
rs1489927894 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CCT>-
[Show Flanks]
- Chromosome:
- 15:41334228
(GRCh38)
15:41626426
(GRCh37)
- Canonical SPDI:
- NC_000015.10:41334225:CTCCT:CT
- Gene:
- OIP5 (Varview), NUSAP1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
CT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS: