Links from Gene
Items: 1 to 20 of 1000
1.
rs1491558166 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->T,TGTGT,TGTGTGT,TGTGTGTGTGTGTGT,TGTGTGTGTGTGTGTGT,TGTGTGTGTGTGTGTGTGT,TGTGTGTGTGTGTGTGTGTGT,TGTGTGTGTGTGTGTGTGTGTGT,TGTGTGTGTGTGTGTGTGTGTGTGTGT,TTGTGTGTGTGTGTGTGT,TTT
[Show Flanks]
- Chromosome:
- 14:69654790
(GRCh38)
14:70121508
(GRCh37)
- Canonical SPDI:
- NC_000014.9:69654790::T,NC_000014.9:69654790::TGTGT,NC_000014.9:69654790::TGTGTGT,NC_000014.9:69654790::TGTGTGTGTGTGTGT,NC_000014.9:69654790::TGTGTGTGTGTGTGTGT,NC_000014.9:69654790::TGTGTGTGTGTGTGTGTGT,NC_000014.9:69654790::TGTGTGTGTGTGTGTGTGTGT,NC_000014.9:69654790::TGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:69654790::TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:69654790::TTGTGTGTGTGTGTGTGT,NC_000014.9:69654790::TTT
- Gene:
- SUSD6 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGTGT=0./0
(
ALFA)
TGTGTGTGTGTGTGTGTGT=0.000004/1
(TOPMED)
- HGVS:
NC_000014.9:g.69654790_69654791insT, NC_000014.9:g.69654790_69654791insTGTGT, NC_000014.9:g.69654790_69654791insTGTGTGT, NC_000014.9:g.69654790_69654791insTGTGTGTGTGTGTGT, NC_000014.9:g.69654790_69654791insTGTGTGTGTGTGTGTGT, NC_000014.9:g.69654790_69654791insTGTGTGTGTGTGTGTGTGT, NC_000014.9:g.69654790_69654791insTGTGTGTGTGTGTGTGTGTGT, NC_000014.9:g.69654790_69654791insTGTGTGTGTGTGTGTGTGTGTGT, NC_000014.9:g.69654790_69654791insTGTGTGTGTGTGTGTGTGTGTGTGTGT, NC_000014.9:g.69654790_69654791insTTGTGTGTGTGTGTGTGT, NC_000014.9:g.69654790_69654791insTTT, NC_000014.8:g.70121507_70121508insT, NC_000014.8:g.70121507_70121508insTGTGT, NC_000014.8:g.70121507_70121508insTGTGTGT, NC_000014.8:g.70121507_70121508insTGTGTGTGTGTGTGT, NC_000014.8:g.70121507_70121508insTGTGTGTGTGTGTGTGT, NC_000014.8:g.70121507_70121508insTGTGTGTGTGTGTGTGTGT, NC_000014.8:g.70121507_70121508insTGTGTGTGTGTGTGTGTGTGT, NC_000014.8:g.70121507_70121508insTGTGTGTGTGTGTGTGTGTGTGT, NC_000014.8:g.70121507_70121508insTGTGTGTGTGTGTGTGTGTGTGTGTGT, NC_000014.8:g.70121507_70121508insTTGTGTGTGTGTGTGTGT, NC_000014.8:g.70121507_70121508insTTT
2.
rs1491539694 has merged into rs11463756 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 14:69639967
(GRCh38)
14:70106684
(GRCh37)
- Canonical SPDI:
- NC_000014.9:69639956:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000014.9:69639956:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000014.9:69639956:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000014.9:69639956:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000014.9:69639956:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000014.9:69639956:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000014.9:69639956:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000014.9:69639956:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000014.9:69639956:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000014.9:69639956:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000014.9:69639956:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000014.9:69639956:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000014.9:69639956:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:69639956:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:69639956:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:69639956:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:69639956:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:69639956:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:69639956:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:69639956:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:69639956:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:69639956:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:69639956:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:69639956:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:69639956:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:69639956:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:69639956:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:69639956:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:69639956:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:69639956:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:69639956:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:69639956:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:69639956:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- SUSD6 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000014.9:g.69639967_69639979del, NC_000014.9:g.69639968_69639979del, NC_000014.9:g.69639969_69639979del, NC_000014.9:g.69639970_69639979del, NC_000014.9:g.69639971_69639979del, NC_000014.9:g.69639972_69639979del, NC_000014.9:g.69639973_69639979del, NC_000014.9:g.69639974_69639979del, NC_000014.9:g.69639975_69639979del, NC_000014.9:g.69639976_69639979del, NC_000014.9:g.69639977_69639979del, NC_000014.9:g.69639978_69639979del, NC_000014.9:g.69639979del, NC_000014.9:g.69639979dup, NC_000014.9:g.69639978_69639979dup, NC_000014.9:g.69639977_69639979dup, NC_000014.9:g.69639976_69639979dup, NC_000014.9:g.69639975_69639979dup, NC_000014.9:g.69639974_69639979dup, NC_000014.9:g.69639973_69639979dup, NC_000014.9:g.69639972_69639979dup, NC_000014.9:g.69639971_69639979dup, NC_000014.9:g.69639970_69639979dup, NC_000014.9:g.69639969_69639979dup, NC_000014.9:g.69639968_69639979dup, NC_000014.9:g.69639967_69639979dup, NC_000014.9:g.69639966_69639979dup, NC_000014.9:g.69639965_69639979dup, NC_000014.9:g.69639964_69639979dup, NC_000014.9:g.69639963_69639979dup, NC_000014.9:g.69639979_69639980insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.69639979_69639980insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.69639979_69639980insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.70106684_70106696del, NC_000014.8:g.70106685_70106696del, NC_000014.8:g.70106686_70106696del, NC_000014.8:g.70106687_70106696del, NC_000014.8:g.70106688_70106696del, NC_000014.8:g.70106689_70106696del, NC_000014.8:g.70106690_70106696del, NC_000014.8:g.70106691_70106696del, NC_000014.8:g.70106692_70106696del, NC_000014.8:g.70106693_70106696del, NC_000014.8:g.70106694_70106696del, NC_000014.8:g.70106695_70106696del, NC_000014.8:g.70106696del, NC_000014.8:g.70106696dup, NC_000014.8:g.70106695_70106696dup, NC_000014.8:g.70106694_70106696dup, NC_000014.8:g.70106693_70106696dup, NC_000014.8:g.70106692_70106696dup, NC_000014.8:g.70106691_70106696dup, NC_000014.8:g.70106690_70106696dup, NC_000014.8:g.70106689_70106696dup, NC_000014.8:g.70106688_70106696dup, NC_000014.8:g.70106687_70106696dup, NC_000014.8:g.70106686_70106696dup, NC_000014.8:g.70106685_70106696dup, NC_000014.8:g.70106684_70106696dup, NC_000014.8:g.70106683_70106696dup, NC_000014.8:g.70106682_70106696dup, NC_000014.8:g.70106681_70106696dup, NC_000014.8:g.70106680_70106696dup, NC_000014.8:g.70106696_70106697insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.70106696_70106697insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.70106696_70106697insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
4.
rs1491422809 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 14:69677673
(GRCh38)
14:70144391
(GRCh37)
- Canonical SPDI:
- NC_000014.9:69677673:GGGGG:GGGGGG
- Gene:
- SUSD6 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GGGGGG=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000011/3
(TOPMED)
- HGVS:
5.
rs1491420461 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AG>-
[Show Flanks]
- Chromosome:
- 14:69620888
(GRCh38)
14:70087605
(GRCh37)
- Canonical SPDI:
- NC_000014.9:69620885:AGAG:AG
- Gene:
- SUSD6 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AGAG=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
-=0.000014/2
(GnomAD)
- HGVS:
6.
rs1491407429 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TG>-
[Show Flanks]
- Chromosome:
- 14:69653767
(GRCh38)
14:70120484
(GRCh37)
- Canonical SPDI:
- NC_000014.9:69653766:TG:
- Gene:
- SUSD6 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.000084/1
(
ALFA)
-=0.000116/16
(GnomAD)
- HGVS:
7.
rs1491391454 has merged into rs57290539 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 14:69677558
(GRCh38)
14:70144275
(GRCh37)
- Canonical SPDI:
- NC_000014.9:69677546:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000014.9:69677546:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000014.9:69677546:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000014.9:69677546:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000014.9:69677546:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000014.9:69677546:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000014.9:69677546:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000014.9:69677546:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
- Gene:
- SUSD6 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAA=0./0
(
ALFA)
AA=0.1128/565
(1000Genomes)
AA=0.3/12
(GENOME_DK)
- HGVS:
NC_000014.9:g.69677558_69677563del, NC_000014.9:g.69677559_69677563del, NC_000014.9:g.69677560_69677563del, NC_000014.9:g.69677561_69677563del, NC_000014.9:g.69677562_69677563del, NC_000014.9:g.69677563del, NC_000014.9:g.69677563dup, NC_000014.9:g.69677559_69677563dup, NC_000014.8:g.70144275_70144280del, NC_000014.8:g.70144276_70144280del, NC_000014.8:g.70144277_70144280del, NC_000014.8:g.70144278_70144280del, NC_000014.8:g.70144279_70144280del, NC_000014.8:g.70144280del, NC_000014.8:g.70144280dup, NC_000014.8:g.70144276_70144280dup
9.
rs1491353029 has merged into rs58962166 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTT>-,T,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 14:69669071
(GRCh38)
14:70135788
(GRCh37)
- Canonical SPDI:
- NC_000014.9:69669062:TTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000014.9:69669062:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000014.9:69669062:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000014.9:69669062:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000014.9:69669062:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000014.9:69669062:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000014.9:69669062:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000014.9:69669062:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000014.9:69669062:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000014.9:69669062:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000014.9:69669062:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000014.9:69669062:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:69669062:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:69669062:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:69669062:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:69669062:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:69669062:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:69669062:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:69669062:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:69669062:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:69669062:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:69669062:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- SUSD6 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTT=0./0
(
ALFA)
-=0.1079/416
(ALSPAC)
- HGVS:
NC_000014.9:g.69669071_69669082del, NC_000014.9:g.69669072_69669082del, NC_000014.9:g.69669074_69669082del, NC_000014.9:g.69669075_69669082del, NC_000014.9:g.69669077_69669082del, NC_000014.9:g.69669078_69669082del, NC_000014.9:g.69669079_69669082del, NC_000014.9:g.69669080_69669082del, NC_000014.9:g.69669081_69669082del, NC_000014.9:g.69669082del, NC_000014.9:g.69669082dup, NC_000014.9:g.69669081_69669082dup, NC_000014.9:g.69669080_69669082dup, NC_000014.9:g.69669079_69669082dup, NC_000014.9:g.69669078_69669082dup, NC_000014.9:g.69669077_69669082dup, NC_000014.9:g.69669076_69669082dup, NC_000014.9:g.69669075_69669082dup, NC_000014.9:g.69669074_69669082dup, NC_000014.9:g.69669073_69669082dup, NC_000014.9:g.69669072_69669082dup, NC_000014.9:g.69669082_69669083insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.70135788_70135799del, NC_000014.8:g.70135789_70135799del, NC_000014.8:g.70135791_70135799del, NC_000014.8:g.70135792_70135799del, NC_000014.8:g.70135794_70135799del, NC_000014.8:g.70135795_70135799del, NC_000014.8:g.70135796_70135799del, NC_000014.8:g.70135797_70135799del, NC_000014.8:g.70135798_70135799del, NC_000014.8:g.70135799del, NC_000014.8:g.70135799dup, NC_000014.8:g.70135798_70135799dup, NC_000014.8:g.70135797_70135799dup, NC_000014.8:g.70135796_70135799dup, NC_000014.8:g.70135795_70135799dup, NC_000014.8:g.70135794_70135799dup, NC_000014.8:g.70135793_70135799dup, NC_000014.8:g.70135792_70135799dup, NC_000014.8:g.70135791_70135799dup, NC_000014.8:g.70135790_70135799dup, NC_000014.8:g.70135789_70135799dup, NC_000014.8:g.70135799_70135800insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
10.
rs1491287386 has merged into rs10554011 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAA>-,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 14:69619607
(GRCh38)
14:70086324
(GRCh37)
- Canonical SPDI:
- NC_000014.9:69619598:AAAAAAAAAAAAAAAA:AAAAAAAA,NC_000014.9:69619598:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000014.9:69619598:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000014.9:69619598:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000014.9:69619598:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000014.9:69619598:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000014.9:69619598:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000014.9:69619598:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000014.9:69619598:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000014.9:69619598:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
- Gene:
- SUSD6 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAA=0./0
(
ALFA)
- HGVS:
NC_000014.9:g.69619607_69619614del, NC_000014.9:g.69619611_69619614del, NC_000014.9:g.69619612_69619614del, NC_000014.9:g.69619613_69619614del, NC_000014.9:g.69619614del, NC_000014.9:g.69619614dup, NC_000014.9:g.69619613_69619614dup, NC_000014.9:g.69619612_69619614dup, NC_000014.9:g.69619611_69619614dup, NC_000014.9:g.69619610_69619614dup, NC_000014.8:g.70086324_70086331del, NC_000014.8:g.70086328_70086331del, NC_000014.8:g.70086329_70086331del, NC_000014.8:g.70086330_70086331del, NC_000014.8:g.70086331del, NC_000014.8:g.70086331dup, NC_000014.8:g.70086330_70086331dup, NC_000014.8:g.70086329_70086331dup, NC_000014.8:g.70086328_70086331dup, NC_000014.8:g.70086327_70086331dup
11.
rs1491281146 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 14:69620886
(GRCh38)
14:70087604
(GRCh37)
- Canonical SPDI:
- NC_000014.9:69620886:G:GG
- Gene:
- SUSD6 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GG=0./0
(
ALFA)
G=0.0001/14
(GnomAD)
G=0.000136/36
(TOPMED)
- HGVS:
12.
rs1491275463 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 14:69619599
(GRCh38)
14:70086317
(GRCh37)
- Canonical SPDI:
- NC_000014.9:69619599::G
- Gene:
- SUSD6 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000084/1
(
ALFA)
G=0.000009/1
(GnomAD)
- HGVS:
13.
rs1491234512 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 14:69677546
(GRCh38)
14:70144263
(GRCh37)
- Canonical SPDI:
- NC_000014.9:69677545:CA:
- Gene:
- SUSD6 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.01973/234
(
ALFA)
-=0.00124/35
(TOMMO)
- HGVS:
15.
rs1491214087 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 14:69635643
(GRCh38)
14:70102360
(GRCh37)
- Canonical SPDI:
- NC_000014.9:69635642:AT:
- Gene:
- SUSD6 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
- HGVS:
16.
rs1491213227 has merged into rs59195061 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTT>-,T,TT,TTTT,TTTTT
[Show Flanks]
- Chromosome:
- 14:69679590
(GRCh38)
14:70146307
(GRCh37)
- Canonical SPDI:
- NC_000014.9:69679578:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000014.9:69679578:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000014.9:69679578:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000014.9:69679578:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000014.9:69679578:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT
- Gene:
- SUSD6 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTT=0./0
(
ALFA)
- HGVS:
18.
rs1491163957 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 14:69682971
(GRCh38)
14:70149689
(GRCh37)
- Canonical SPDI:
- NC_000014.9:69682971:C:CC
- Gene:
- SUSD6 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CC=0./0
(
ALFA)
C=0.00004/1
(TOMMO)
C=0.00099/94
(GnomAD)
C=0.00172/11
(1000Genomes)
- HGVS:
19.
rs1491150650 has merged into rs57837741 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 14:69639323
(GRCh38)
14:70106040
(GRCh37)
- Canonical SPDI:
- NC_000014.9:69639313:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000014.9:69639313:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000014.9:69639313:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000014.9:69639313:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000014.9:69639313:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000014.9:69639313:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000014.9:69639313:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000014.9:69639313:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000014.9:69639313:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000014.9:69639313:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000014.9:69639313:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000014.9:69639313:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000014.9:69639313:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:69639313:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:69639313:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:69639313:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:69639313:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:69639313:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:69639313:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:69639313:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:69639313:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:69639313:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:69639313:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:69639313:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:69639313:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:69639313:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:69639313:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:69639313:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:69639313:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:69639313:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:69639313:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- SUSD6 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAA=0./0
(
ALFA)
AAAAAAAAAAAAA=0./0
(GENOME_DK)
- HGVS:
NC_000014.9:g.69639323_69639339del, NC_000014.9:g.69639325_69639339del, NC_000014.9:g.69639326_69639339del, NC_000014.9:g.69639327_69639339del, NC_000014.9:g.69639328_69639339del, NC_000014.9:g.69639329_69639339del, NC_000014.9:g.69639330_69639339del, NC_000014.9:g.69639331_69639339del, NC_000014.9:g.69639332_69639339del, NC_000014.9:g.69639333_69639339del, NC_000014.9:g.69639334_69639339del, NC_000014.9:g.69639335_69639339del, NC_000014.9:g.69639336_69639339del, NC_000014.9:g.69639337_69639339del, NC_000014.9:g.69639338_69639339del, NC_000014.9:g.69639339del, NC_000014.9:g.69639339dup, NC_000014.9:g.69639338_69639339dup, NC_000014.9:g.69639337_69639339dup, NC_000014.9:g.69639336_69639339dup, NC_000014.9:g.69639335_69639339dup, NC_000014.9:g.69639334_69639339dup, NC_000014.9:g.69639333_69639339dup, NC_000014.9:g.69639332_69639339dup, NC_000014.9:g.69639331_69639339dup, NC_000014.9:g.69639330_69639339dup, NC_000014.9:g.69639329_69639339dup, NC_000014.9:g.69639328_69639339dup, NC_000014.9:g.69639327_69639339dup, NC_000014.9:g.69639325_69639339dup, NC_000014.9:g.69639339_69639340insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000014.8:g.70106040_70106056del, NC_000014.8:g.70106042_70106056del, NC_000014.8:g.70106043_70106056del, NC_000014.8:g.70106044_70106056del, NC_000014.8:g.70106045_70106056del, NC_000014.8:g.70106046_70106056del, NC_000014.8:g.70106047_70106056del, NC_000014.8:g.70106048_70106056del, NC_000014.8:g.70106049_70106056del, NC_000014.8:g.70106050_70106056del, NC_000014.8:g.70106051_70106056del, NC_000014.8:g.70106052_70106056del, NC_000014.8:g.70106053_70106056del, NC_000014.8:g.70106054_70106056del, NC_000014.8:g.70106055_70106056del, NC_000014.8:g.70106056del, NC_000014.8:g.70106056dup, NC_000014.8:g.70106055_70106056dup, NC_000014.8:g.70106054_70106056dup, NC_000014.8:g.70106053_70106056dup, NC_000014.8:g.70106052_70106056dup, NC_000014.8:g.70106051_70106056dup, NC_000014.8:g.70106050_70106056dup, NC_000014.8:g.70106049_70106056dup, NC_000014.8:g.70106048_70106056dup, NC_000014.8:g.70106047_70106056dup, NC_000014.8:g.70106046_70106056dup, NC_000014.8:g.70106045_70106056dup, NC_000014.8:g.70106044_70106056dup, NC_000014.8:g.70106042_70106056dup, NC_000014.8:g.70106056_70106057insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA