Links from Gene
Items: 1 to 20 of 1000
1.
rs1491582392 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 12:29416079
(GRCh38)
12:29569013
(GRCh37)
- Canonical SPDI:
- NC_000012.12:29416079::G
- Gene:
- OVCH1 (Varview), OVCH1-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
2.
rs1491566535 has merged into rs74937229 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 12:29414031
(GRCh38)
12:29566964
(GRCh37)
- Canonical SPDI:
- NC_000012.12:29414020:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000012.12:29414020:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000012.12:29414020:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:29414020:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:29414020:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:29414020:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000012.12:29414020:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:29414020:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:29414020:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000012.12:29414020:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000012.12:29414020:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000012.12:29414020:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000012.12:29414020:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:29414020:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:29414020:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:29414020:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:29414020:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:29414020:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:29414020:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:29414020:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- OVCH1 (Varview), OVCH1-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000012.12:g.29414031_29414042del, NC_000012.12:g.29414032_29414042del, NC_000012.12:g.29414033_29414042del, NC_000012.12:g.29414034_29414042del, NC_000012.12:g.29414035_29414042del, NC_000012.12:g.29414036_29414042del, NC_000012.12:g.29414037_29414042del, NC_000012.12:g.29414038_29414042del, NC_000012.12:g.29414039_29414042del, NC_000012.12:g.29414040_29414042del, NC_000012.12:g.29414041_29414042del, NC_000012.12:g.29414042del, NC_000012.12:g.29414042dup, NC_000012.12:g.29414041_29414042dup, NC_000012.12:g.29414040_29414042dup, NC_000012.12:g.29414039_29414042dup, NC_000012.12:g.29414037_29414042dup, NC_000012.12:g.29414036_29414042dup, NC_000012.12:g.29414034_29414042dup, NC_000012.12:g.29414042_29414043insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.29566964_29566975del, NC_000012.11:g.29566965_29566975del, NC_000012.11:g.29566966_29566975del, NC_000012.11:g.29566967_29566975del, NC_000012.11:g.29566968_29566975del, NC_000012.11:g.29566969_29566975del, NC_000012.11:g.29566970_29566975del, NC_000012.11:g.29566971_29566975del, NC_000012.11:g.29566972_29566975del, NC_000012.11:g.29566973_29566975del, NC_000012.11:g.29566974_29566975del, NC_000012.11:g.29566975del, NC_000012.11:g.29566975dup, NC_000012.11:g.29566974_29566975dup, NC_000012.11:g.29566973_29566975dup, NC_000012.11:g.29566972_29566975dup, NC_000012.11:g.29566970_29566975dup, NC_000012.11:g.29566969_29566975dup, NC_000012.11:g.29566967_29566975dup, NC_000012.11:g.29566975_29566976insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
3.
rs1491510468 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 12:29455830
(GRCh38)
12:29608763
(GRCh37)
- Canonical SPDI:
- NC_000012.12:29455828:TCT:T
- Gene:
- OVCH1 (Varview), OVCH1-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
-=0.000029/4
(GnomAD)
- HGVS:
4.
rs1491486547 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-
[Show Flanks]
- Chromosome:
- 12:29466803
(GRCh38)
12:29619736
(GRCh37)
- Canonical SPDI:
- NC_000012.12:29466801:AAA:A
- Gene:
- OVCH1 (Varview), OVCH1-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
5.
rs1491479425 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 12:29399695
(GRCh38)
12:29552629
(GRCh37)
- Canonical SPDI:
- NC_000012.12:29399695::C
- Gene:
- OVCH1-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.00008/1
(
ALFA)
C=0.00051/24
(GnomAD)
- HGVS:
6.
rs1491477605 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- 12:29440169
(GRCh38)
12:29593102
(GRCh37)
- Canonical SPDI:
- NC_000012.12:29440167:AGA:A
- Gene:
- OVCH1 (Varview), OVCH1-AS1 (Varview)
- Functional Consequence:
- intron_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
7.
rs1491475384 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TGTT
[Show Flanks]
- Chromosome:
- 12:29399452
(GRCh38)
12:29552386
(GRCh37)
- Canonical SPDI:
- NC_000012.12:29399452:TGTT:TGTTTGTT
- Gene:
- OVCH1-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTTTGTT=0./0
(
ALFA)
TGTT=0.000045/12
(TOPMED)
TGTT=0.000057/8
(GnomAD)
- HGVS:
8.
rs1491460337 has merged into rs35897065 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAA>-,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 12:29416083
(GRCh38)
12:29569016
(GRCh37)
- Canonical SPDI:
- NC_000012.12:29416078:AAAAAAAAAA:AAAA,NC_000012.12:29416078:AAAAAAAAAA:AAAAAAA,NC_000012.12:29416078:AAAAAAAAAA:AAAAAAAA,NC_000012.12:29416078:AAAAAAAAAA:AAAAAAAAA,NC_000012.12:29416078:AAAAAAAAAA:AAAAAAAAAAA,NC_000012.12:29416078:AAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:29416078:AAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:29416078:AAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:29416078:AAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:29416078:AAAAAAAAAA:AAAAAAAAAAAAAAAA
- Gene:
- OVCH1 (Varview), OVCH1-AS1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000012.12:g.29416083_29416088del, NC_000012.12:g.29416086_29416088del, NC_000012.12:g.29416087_29416088del, NC_000012.12:g.29416088del, NC_000012.12:g.29416088dup, NC_000012.12:g.29416087_29416088dup, NC_000012.12:g.29416086_29416088dup, NC_000012.12:g.29416085_29416088dup, NC_000012.12:g.29416084_29416088dup, NC_000012.12:g.29416083_29416088dup, NC_000012.11:g.29569016_29569021del, NC_000012.11:g.29569019_29569021del, NC_000012.11:g.29569020_29569021del, NC_000012.11:g.29569021del, NC_000012.11:g.29569021dup, NC_000012.11:g.29569020_29569021dup, NC_000012.11:g.29569019_29569021dup, NC_000012.11:g.29569018_29569021dup, NC_000012.11:g.29569017_29569021dup, NC_000012.11:g.29569016_29569021dup
9.
rs1491459391 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->ATG
[Show Flanks]
- Chromosome:
- 12:29440168
(GRCh38)
12:29593102
(GRCh37)
- Canonical SPDI:
- NC_000012.12:29440168:GATG:GATGATG
- Gene:
- OVCH1 (Varview), OVCH1-AS1 (Varview)
- Functional Consequence:
- intron_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
GATGATG=0./0
(
ALFA)
GAT=0.000008/2
(TOPMED)
- HGVS:
10.
rs1491458541 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AG>-
[Show Flanks]
- Chromosome:
- 12:29409901
(GRCh38)
12:29562834
(GRCh37)
- Canonical SPDI:
- NC_000012.12:29409900:AG:
- Gene:
- OVCH1 (Varview), OVCH1-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
- HGVS:
11.
rs1491436356 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->TTATATCT
[Show Flanks]
- Chromosome:
- 12:29466377
(GRCh38)
12:29619311
(GRCh37)
- Canonical SPDI:
- NC_000012.12:29466377::TTATATCT
- Gene:
- OVCH1 (Varview), OVCH1-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by cluster
- MAF:
TTATATCT=0.00683/114
(TOMMO)
TTATATCT=0.00929/17
(Korea1K)
- HGVS:
12.
rs1491410289 has merged into rs200379417 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CTCTCT>-,CT,CTCT,CTCTCTCT,CTCTCTCTCT
[Show Flanks]
- Chromosome:
- 12:29414016
(GRCh38)
12:29566949
(GRCh37)
- Canonical SPDI:
- NC_000012.12:29414007:CTCTCTCTCTCTCT:CTCTCTCT,NC_000012.12:29414007:CTCTCTCTCTCTCT:CTCTCTCTCT,NC_000012.12:29414007:CTCTCTCTCTCTCT:CTCTCTCTCTCT,NC_000012.12:29414007:CTCTCTCTCTCTCT:CTCTCTCTCTCTCTCT,NC_000012.12:29414007:CTCTCTCTCTCTCT:CTCTCTCTCTCTCTCTCT
- Gene:
- OVCH1 (Varview), OVCH1-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CTCTCTCTCT=0./0
(
ALFA)
-=0.00025/4
(TOMMO)
CTCT=0.48902/2449
(1000Genomes)
- HGVS:
14.
rs1491398384 has merged into rs149871253 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TA>-,TATA
[Show Flanks]
- Chromosome:
- 12:29413669
(GRCh38)
12:29566602
(GRCh37)
- Canonical SPDI:
- NC_000012.12:29413667:ATA:A,NC_000012.12:29413667:ATA:ATATA
- Gene:
- OVCH1 (Varview), OVCH1-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000339/4
(
ALFA)
-=0.000814/14
(TOMMO)
-=0.001639/3
(Korea1K)
-=0.003228/441
(GnomAD)
-=0.133887/516
(ALSPAC)
-=0.13808/512
(TWINSUK)
- HGVS:
15.
rs1491362386 has merged into rs145053170 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GCGCGC>-,GCGC,GCGCGCGC,GCGCGCGCGC,GCGCGCGCGCGC,GCGCGCGCGCGCGC,GCGCGCGCGCGCGCGC,GCGCGCGCGCGCGCGCGC,GCGCGCGCGCGCGCGCGCGC,GCGCGCGCGCGCGCGCGCGCGC,GCGCGCGCGCGCGCGCGCGCGCGC,GCGCGCGCGCGCGCGCGCGCGCGCGC
[Show Flanks]
- Chromosome:
- 12:29476751
(GRCh38)
12:29629684
(GRCh37)
- Canonical SPDI:
- NC_000012.12:29476749:CGCGCGC:C,NC_000012.12:29476749:CGCGCGC:CGCGC,NC_000012.12:29476749:CGCGCGC:CGCGCGCGC,NC_000012.12:29476749:CGCGCGC:CGCGCGCGCGC,NC_000012.12:29476749:CGCGCGC:CGCGCGCGCGCGC,NC_000012.12:29476749:CGCGCGC:CGCGCGCGCGCGCGC,NC_000012.12:29476749:CGCGCGC:CGCGCGCGCGCGCGCGC,NC_000012.12:29476749:CGCGCGC:CGCGCGCGCGCGCGCGCGC,NC_000012.12:29476749:CGCGCGC:CGCGCGCGCGCGCGCGCGCGC,NC_000012.12:29476749:CGCGCGC:CGCGCGCGCGCGCGCGCGCGCGC,NC_000012.12:29476749:CGCGCGC:CGCGCGCGCGCGCGCGCGCGCGCGC,NC_000012.12:29476749:CGCGCGC:CGCGCGCGCGCGCGCGCGCGCGCGCGC
- Gene:
- OVCH1 (Varview), OVCH1-AS1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CGCGC=0./0
(
ALFA)
CGCG=0.00073/3
(Estonian)
CGCGCG=0.15635/783
(1000Genomes)
- HGVS:
NC_000012.12:g.29476751_29476756del, NC_000012.12:g.29476751GC[2], NC_000012.12:g.29476751GC[4], NC_000012.12:g.29476751GC[5], NC_000012.12:g.29476751GC[6], NC_000012.12:g.29476751GC[7], NC_000012.12:g.29476751GC[8], NC_000012.12:g.29476751GC[9], NC_000012.12:g.29476751GC[10], NC_000012.12:g.29476751GC[11], NC_000012.12:g.29476751GC[12], NC_000012.12:g.29476751GC[13], NC_000012.11:g.29629684_29629689del, NC_000012.11:g.29629684GC[2], NC_000012.11:g.29629684GC[4], NC_000012.11:g.29629684GC[5], NC_000012.11:g.29629684GC[6], NC_000012.11:g.29629684GC[7], NC_000012.11:g.29629684GC[8], NC_000012.11:g.29629684GC[9], NC_000012.11:g.29629684GC[10], NC_000012.11:g.29629684GC[11], NC_000012.11:g.29629684GC[12], NC_000012.11:g.29629684GC[13]
16.
rs1491362099 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C,CTC
[Show Flanks]
- Chromosome:
- 12:29414021
(GRCh38)
12:29566955
(GRCh37)
- Canonical SPDI:
- NC_000012.12:29414021::C,NC_000012.12:29414021::CTC
- Gene:
- OVCH1 (Varview), OVCH1-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
CTC=0./0
(
ALFA)
CTC=0.000004/1
(TOPMED)
- HGVS:
18.
rs1491335514 has merged into rs548409739 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CACACACACACACACACACACACACACACACACA>-,CA,CACA,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACA
[Show Flanks]
- Chromosome:
- 12:29476774
(GRCh38)
12:29629707
(GRCh37)
- Canonical SPDI:
- NC_000012.12:29476755:CACACACACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACA,NC_000012.12:29476755:CACACACACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACA,NC_000012.12:29476755:CACACACACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACA,NC_000012.12:29476755:CACACACACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACA,NC_000012.12:29476755:CACACACACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACA,NC_000012.12:29476755:CACACACACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACA,NC_000012.12:29476755:CACACACACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACA,NC_000012.12:29476755:CACACACACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACA,NC_000012.12:29476755:CACACACACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACA,NC_000012.12:29476755:CACACACACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACA,NC_000012.12:29476755:CACACACACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACA,NC_000012.12:29476755:CACACACACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACA,NC_000012.12:29476755:CACACACACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACA,NC_000012.12:29476755:CACACACACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACA,NC_000012.12:29476755:CACACACACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACA,NC_000012.12:29476755:CACACACACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACA,NC_000012.12:29476755:CACACACACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000012.12:29476755:CACACACACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000012.12:29476755:CACACACACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA
- Gene:
- OVCH1 (Varview), OVCH1-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CACACACACACACACACA=0./0
(
ALFA)
- HGVS:
NC_000012.12:g.29476756CA[9], NC_000012.12:g.29476756CA[10], NC_000012.12:g.29476756CA[11], NC_000012.12:g.29476756CA[12], NC_000012.12:g.29476756CA[13], NC_000012.12:g.29476756CA[14], NC_000012.12:g.29476756CA[15], NC_000012.12:g.29476756CA[16], NC_000012.12:g.29476756CA[17], NC_000012.12:g.29476756CA[18], NC_000012.12:g.29476756CA[19], NC_000012.12:g.29476756CA[20], NC_000012.12:g.29476756CA[21], NC_000012.12:g.29476756CA[22], NC_000012.12:g.29476756CA[23], NC_000012.12:g.29476756CA[24], NC_000012.12:g.29476756CA[25], NC_000012.12:g.29476756CA[27], NC_000012.12:g.29476756CA[30], NC_000012.11:g.29629689CA[9], NC_000012.11:g.29629689CA[10], NC_000012.11:g.29629689CA[11], NC_000012.11:g.29629689CA[12], NC_000012.11:g.29629689CA[13], NC_000012.11:g.29629689CA[14], NC_000012.11:g.29629689CA[15], NC_000012.11:g.29629689CA[16], NC_000012.11:g.29629689CA[17], NC_000012.11:g.29629689CA[18], NC_000012.11:g.29629689CA[19], NC_000012.11:g.29629689CA[20], NC_000012.11:g.29629689CA[21], NC_000012.11:g.29629689CA[22], NC_000012.11:g.29629689CA[23], NC_000012.11:g.29629689CA[24], NC_000012.11:g.29629689CA[25], NC_000012.11:g.29629689CA[27], NC_000012.11:g.29629689CA[30]
19.
rs1491331744 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 12:29397800
(GRCh38)
12:29550733
(GRCh37)
- Canonical SPDI:
- NC_000012.12:29397799:CT:
- Gene:
- OVCH1-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
20.
rs1491303855 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 12:29399452
(GRCh38)
12:29552385
(GRCh37)
- Canonical SPDI:
- NC_000012.12:29399451:CT:
- Gene:
- OVCH1-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000011/3
(TOPMED)
-=0.000312/2
(1000Genomes)
-=0.000546/1
(Korea1K)
-=0.001451/24
(TOMMO)
- HGVS: