Links from Gene
Items: 1 to 20 of 1000
1.
rs1491570578 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 7:105966953
(GRCh38)
7:105607400
(GRCh37)
- Canonical SPDI:
- NC_000007.14:105966953::A
- Gene:
- CDHR3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
A=0.00005/1
(GnomAD)
- HGVS:
3.
rs1491567008 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-
[Show Flanks]
- Chromosome:
- 7:106029580
(GRCh38)
7:105670026
(GRCh37)
- Canonical SPDI:
- NC_000007.14:106029578:TTT:T
- Gene:
- CDHR3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.001653/27
(
ALFA)
-=0.00088/123
(GnomAD)
- HGVS:
4.
rs1491510230 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->T,TT
[Show Flanks]
- Chromosome:
- 7:106020049
(GRCh38)
7:105660496
(GRCh37)
- Canonical SPDI:
- NC_000007.14:106020049::T,NC_000007.14:106020049::TT
- Gene:
- CDHR3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TT=0./0
(
ALFA)
T=0.000215/57
(TOPMED)
T=0.004353/73
(TOMMO)
T=0.005459/10
(Korea1K)
- HGVS:
5.
rs1491491483 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 7:105908559
(GRCh38)
7:105549006
(GRCh37)
- Canonical SPDI:
- NC_000007.14:105908559::T
- Validated:
- by frequency,by cluster
- MAF:
T=0.00201/32
(TOMMO)
T=0.0023/4
(Korea1K)
T=0.00519/432
(GnomAD)
- HGVS:
6.
rs1491491472 has merged into rs748203129 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTT>-,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 7:105913088
(GRCh38)
7:105553534
(GRCh37)
- Canonical SPDI:
- NC_000007.14:105913079:TTTTTTTTTTTTTTTT:TTTTTTTT,NC_000007.14:105913079:TTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000007.14:105913079:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:105913079:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:105913079:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:105913079:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000007.14:105913079:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000007.14:105913079:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000007.14:105913079:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000007.14:105913079:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000007.14:105913079:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:105913079:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:105913079:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:105913079:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:105913079:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:105913079:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:105913079:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
NC_000007.14:g.105913088_105913095del, NC_000007.14:g.105913091_105913095del, NC_000007.14:g.105913093_105913095del, NC_000007.14:g.105913094_105913095del, NC_000007.14:g.105913095del, NC_000007.14:g.105913095dup, NC_000007.14:g.105913094_105913095dup, NC_000007.14:g.105913093_105913095dup, NC_000007.14:g.105913092_105913095dup, NC_000007.14:g.105913091_105913095dup, NC_000007.14:g.105913090_105913095dup, NC_000007.14:g.105913089_105913095dup, NC_000007.14:g.105913088_105913095dup, NC_000007.14:g.105913087_105913095dup, NC_000007.14:g.105913086_105913095dup, NC_000007.14:g.105913082_105913095dup, NC_000007.14:g.105913081_105913095dup, NC_000007.13:g.105553534_105553541del, NC_000007.13:g.105553537_105553541del, NC_000007.13:g.105553539_105553541del, NC_000007.13:g.105553540_105553541del, NC_000007.13:g.105553541del, NC_000007.13:g.105553541dup, NC_000007.13:g.105553540_105553541dup, NC_000007.13:g.105553539_105553541dup, NC_000007.13:g.105553538_105553541dup, NC_000007.13:g.105553537_105553541dup, NC_000007.13:g.105553536_105553541dup, NC_000007.13:g.105553535_105553541dup, NC_000007.13:g.105553534_105553541dup, NC_000007.13:g.105553533_105553541dup, NC_000007.13:g.105553532_105553541dup, NC_000007.13:g.105553528_105553541dup, NC_000007.13:g.105553527_105553541dup
8.
rs1491437213 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CG>-
[Show Flanks]
- Chromosome:
- 7:105957956
(GRCh38)
7:105598402
(GRCh37)
- Canonical SPDI:
- NC_000007.14:105957954:GCG:G
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.164377/2680
(
ALFA)
-=0.075/3
(GENOME_DK)
-=0.133363/594
(Estonian)
-=0.193482/23520
(GnomAD)
-=0.377448/6166
(TOMMO)
- HGVS:
9.
rs1491408966 has merged into rs145956122 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GG>-,G,GGG,GGGG,GGGGG,GGGGGG,GGGGGGG
[Show Flanks]
- Chromosome:
- 7:105957954
(GRCh38)
7:105598400
(GRCh37)
- Canonical SPDI:
- NC_000007.14:105957950:GGGGG:GGG,NC_000007.14:105957950:GGGGG:GGGG,NC_000007.14:105957950:GGGGG:GGGGGG,NC_000007.14:105957950:GGGGG:GGGGGGG,NC_000007.14:105957950:GGGGG:GGGGGGGG,NC_000007.14:105957950:GGGGG:GGGGGGGGG,NC_000007.14:105957950:GGGGG:GGGGGGGGGG
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GGGG=0./0
(
ALFA)
G=0.17073/855
(1000Genomes)
G=0.25316/441
(Korea1K)
- HGVS:
NC_000007.14:g.105957954_105957955del, NC_000007.14:g.105957955del, NC_000007.14:g.105957955dup, NC_000007.14:g.105957954_105957955dup, NC_000007.14:g.105957953_105957955dup, NC_000007.14:g.105957952_105957955dup, NC_000007.14:g.105957951_105957955dup, NC_000007.13:g.105598400_105598401del, NC_000007.13:g.105598401del, NC_000007.13:g.105598401dup, NC_000007.13:g.105598400_105598401dup, NC_000007.13:g.105598399_105598401dup, NC_000007.13:g.105598398_105598401dup, NC_000007.13:g.105598397_105598401dup
10.
rs1491386714 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 7:105976983
(GRCh38)
7:105617430
(GRCh37)
- Canonical SPDI:
- NC_000007.14:105976983::C
- Gene:
- CDHR3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
11.
rs1491372745 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 7:105961323
(GRCh38)
7:105601769
(GRCh37)
- Canonical SPDI:
- NC_000007.14:105961322:AT:
- Gene:
- CDHR3 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000008/2
(TOPMED)
- HGVS:
12.
rs1491368571 has merged into rs879388303 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAA>-,A,AA,AAA,AAAAA,AAAAAA
[Show Flanks]
- Chromosome:
- 7:105896651
(GRCh38)
7:105537097
(GRCh37)
- Canonical SPDI:
- NC_000007.14:105896639:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000007.14:105896639:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000007.14:105896639:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:105896639:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:105896639:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:105896639:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAA=0./0
(
ALFA)
-=0.001092/2
(Korea1K)
-=0.002992/792
(TOPMED)
- HGVS:
NC_000007.14:g.105896651_105896654del, NC_000007.14:g.105896652_105896654del, NC_000007.14:g.105896653_105896654del, NC_000007.14:g.105896654del, NC_000007.14:g.105896654dup, NC_000007.14:g.105896653_105896654dup, NC_000007.13:g.105537097_105537100del, NC_000007.13:g.105537098_105537100del, NC_000007.13:g.105537099_105537100del, NC_000007.13:g.105537100del, NC_000007.13:g.105537100dup, NC_000007.13:g.105537099_105537100dup
13.
rs1491335328 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 7:105908710
(GRCh38)
7:105549156
(GRCh37)
- Canonical SPDI:
- NC_000007.14:105908708:ACA:A
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
-=0.00001/1
(GnomAD)
- HGVS:
14.
rs1491327817 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CT,CTCT,CTCTTTCT,CTCTTTCTTTCT,CTCTTTCTTTCTTTCT,CTCTTTCTTTCTTTCTCT,CTCTTTCTTTCTTTCTCTTTCT,CTCTTTCTTTCTTTCTTTCTCT
[Show Flanks]
- Chromosome:
- 7:106028916
(GRCh38)
7:105669363
(GRCh37)
- Canonical SPDI:
- NC_000007.14:106028916:T:TCT,NC_000007.14:106028916:T:TCTCT,NC_000007.14:106028916:T:TCTCTTTCT,NC_000007.14:106028916:T:TCTCTTTCTTTCT,NC_000007.14:106028916:T:TCTCTTTCTTTCTTTCT,NC_000007.14:106028916:T:TCTCTTTCTTTCTTTCTCT,NC_000007.14:106028916:T:TCTCTTTCTTTCTTTCTCTTTCT,NC_000007.14:106028916:T:TCTCTTTCTTTCTTTCTTTCTCT
- Gene:
- CDHR3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000007.14:g.106028917_106028918insCT, NC_000007.14:g.106028917_106028918insCTCT, NC_000007.14:g.106028917TC[2]TTTCT[1], NC_000007.14:g.106028917TC[2]TTTC[2]T[1], NC_000007.14:g.106028917TC[2]TTTC[3]T[1], NC_000007.14:g.106028917TC[2]TTTC[3]TCT[1], NC_000007.14:g.106028917TC[2]TTTC[3]TCTTTCT[1], NC_000007.14:g.106028917TC[2]TTTC[4]TCT[1], NC_000007.13:g.105669363_105669364insCT, NC_000007.13:g.105669363_105669364insCTCT, NC_000007.13:g.105669363TC[2]TTTCT[1], NC_000007.13:g.105669363TC[2]TTTC[2]T[1], NC_000007.13:g.105669363TC[2]TTTC[3]T[1], NC_000007.13:g.105669363TC[2]TTTC[3]TCT[1], NC_000007.13:g.105669363TC[2]TTTC[3]TCTTTCT[1], NC_000007.13:g.105669363TC[2]TTTC[4]TCT[1]
15.
rs1491324757 has merged into rs199774528 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- T>-,TT
[Show Flanks]
- Chromosome:
- 7:105961324
(GRCh38)
7:105601770
(GRCh37)
- Canonical SPDI:
- NC_000007.14:105961323:TTTTTTT:TTTTTT,NC_000007.14:105961323:TTTTTTT:TTTTTTTT
- Gene:
- CDHR3 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTT=0.00005/1
(
ALFA)
-=0.00004/1
(TOMMO)
-=0.00022/1
(Estonian)
- HGVS:
17.
rs1491280425 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CCTTTCTTTCTT
[Show Flanks]
- Chromosome:
- 7:106028935
(GRCh38)
7:105669382
(GRCh37)
- Canonical SPDI:
- NC_000007.14:106028935:CTTTCTTTCTT:CTTTCTTTCTTCCTTTCTTTCTT
- Gene:
- CDHR3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CTTTCTTTCTTCCTTTCTTTCTT=0./0
(
ALFA)
CTTTCTTTCTTC=0.00005/5
(GnomAD)
- HGVS:
18.
rs1491277379 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G,GTG
[Show Flanks]
- Chromosome:
- 7:105937394
(GRCh38)
7:105577841
(GRCh37)
- Canonical SPDI:
- NC_000007.14:105937394::G,NC_000007.14:105937394::GTG
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GTG=0.000071/1
(
ALFA)
GTG=0.000004/1
(TOPMED)
- HGVS:
20.
rs1491268577 has merged into rs11334460 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTT>-,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 7:105976991
(GRCh38)
7:105617437
(GRCh37)
- Canonical SPDI:
- NC_000007.14:105976982:TTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000007.14:105976982:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:105976982:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:105976982:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:105976982:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:105976982:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000007.14:105976982:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000007.14:105976982:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000007.14:105976982:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000007.14:105976982:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:105976982:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:105976982:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:105976982:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:105976982:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- CDHR3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.221446/1109
(1000Genomes)
- HGVS:
NC_000007.14:g.105976991_105977000del, NC_000007.14:g.105976996_105977000del, NC_000007.14:g.105976997_105977000del, NC_000007.14:g.105976998_105977000del, NC_000007.14:g.105976999_105977000del, NC_000007.14:g.105977000del, NC_000007.14:g.105977000dup, NC_000007.14:g.105976999_105977000dup, NC_000007.14:g.105976998_105977000dup, NC_000007.14:g.105976996_105977000dup, NC_000007.14:g.105976995_105977000dup, NC_000007.14:g.105976994_105977000dup, NC_000007.14:g.105976992_105977000dup, NC_000007.14:g.105976991_105977000dup, NC_000007.13:g.105617437_105617446del, NC_000007.13:g.105617442_105617446del, NC_000007.13:g.105617443_105617446del, NC_000007.13:g.105617444_105617446del, NC_000007.13:g.105617445_105617446del, NC_000007.13:g.105617446del, NC_000007.13:g.105617446dup, NC_000007.13:g.105617445_105617446dup, NC_000007.13:g.105617444_105617446dup, NC_000007.13:g.105617442_105617446dup, NC_000007.13:g.105617441_105617446dup, NC_000007.13:g.105617440_105617446dup, NC_000007.13:g.105617438_105617446dup, NC_000007.13:g.105617437_105617446dup