SNP Links for Gene (Select 200373) - SNP

Links from Gene

Items: 1 to 20 of 30977

<< First< Prev

Page of 1549

Next >Last >>

Select item 14915740191.

rs1491574019 has merged into rs11286852 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,A,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:119557967 (GRCh38)
2:120315543 (GRCh37)
Canonical SPDI:: NC_000002.12:119557958:AAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000002.12:119557958:AAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000002.12:119557958:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:119557958:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:119557958:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:119557958:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:119557958:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:119557958:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:119557958:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:119557958:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:119557958:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:119557958:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:119557958:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CFAP221 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
-=0.3316/1278 (ALSPAC)
A=0.3846/1926 (1000Genomes)
HGVS:: NC_000002.12:g.119557967_119557977del, NC_000002.12:g.119557968_119557977del, NC_000002.12:g.119557972_119557977del, NC_000002.12:g.119557973_119557977del, NC_000002.12:g.119557974_119557977del, NC_000002.12:g.119557975_119557977del, NC_000002.12:g.119557976_119557977del, NC_000002.12:g.119557977del, NC_000002.12:g.119557977dup, NC_000002.12:g.119557976_119557977dup, NC_000002.12:g.119557975_119557977dup, NC_000002.12:g.119557973_119557977dup, NC_000002.12:g.119557972_119557977dup, NC_000002.11:g.120315543_120315553del, NC_000002.11:g.120315544_120315553del, NC_000002.11:g.120315548_120315553del, NC_000002.11:g.120315549_120315553del, NC_000002.11:g.120315550_120315553del, NC_000002.11:g.120315551_120315553del, NC_000002.11:g.120315552_120315553del, NC_000002.11:g.120315553del, NC_000002.11:g.120315553dup, NC_000002.11:g.120315552_120315553dup, NC_000002.11:g.120315551_120315553dup, NC_000002.11:g.120315549_120315553dup, NC_000002.11:g.120315548_120315553dup

Select item 14915319282.

rs1491531928 has merged into rs141500583 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>-,GTGT [Show Flanks]
Chromosome:: 2:119685454 (GRCh38)
2:120443030 (GRCh37)
Canonical SPDI:: NC_000002.12:119685446:TGTGTGTGT:TGTGTGT,NC_000002.12:119685446:TGTGTGTGT:TGTGTGTGTGT
Gene:: TMEM177 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGT=0./0 (ALFA)
HGVS:: NC_000002.12:g.119685448GT[3], NC_000002.12:g.119685448GT[5], NC_000002.11:g.120443024GT[3], NC_000002.11:g.120443024GT[5]

Select item 14913792983.

rs1491379298 has merged into rs5833792 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:119608492 (GRCh38)
2:120366068 (GRCh37)
Canonical SPDI:: NC_000002.12:119608481:TTTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:119608481:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:119608481:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:119608481:TTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:119608481:TTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:119608481:TTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:119608481:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:119608481:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:119608481:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT
Gene:: CFAP221 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
-=0./0 (ALSPAC)
-=0./0 (TWINSUK)
-=0.0153/9 (NorthernSweden)
-=0.0354/17 (1000Genomes)
-=0.05/2 (GENOME_DK)
HGVS:: NC_000002.12:g.119608492_119608493del, NC_000002.12:g.119608493del, NC_000002.12:g.119608493dup, NC_000002.12:g.119608492_119608493dup, NC_000002.12:g.119608491_119608493dup, NC_000002.12:g.119608490_119608493dup, NC_000002.12:g.119608489_119608493dup, NC_000002.12:g.119608488_119608493dup, NC_000002.12:g.119608482_119608493dup, NC_000002.11:g.120366068_120366069del, NC_000002.11:g.120366069del, NC_000002.11:g.120366069dup, NC_000002.11:g.120366068_120366069dup, NC_000002.11:g.120366067_120366069dup, NC_000002.11:g.120366066_120366069dup, NC_000002.11:g.120366065_120366069dup, NC_000002.11:g.120366064_120366069dup, NC_000002.11:g.120366058_120366069dup

Select item 14913300824.

rs1491330082 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 2:119545053 (GRCh38)
2:120302629 (GRCh37)
Canonical SPDI:: NC_000002.12:119545050:AGAG:AG
Gene:: CFAP221 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAG=0.000084/1 (ALFA)
-=0.000037/5 (GnomAD)
HGVS:: NC_000002.12:g.119545051AG[1], NC_000002.11:g.120302627AG[1]

Select item 14913076045.

rs1491307604 has merged into rs60171203 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA [Show Flanks]
Chromosome:: 2:119651505 (GRCh38)
2:120409081 (GRCh37)
Canonical SPDI:: NC_000002.12:119651493:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:119651493:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:119651493:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:119651493:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:119651493:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA
Gene:: CFAP221 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAA=0./0 (ALFA)
AA=0./0 (GENOME_DK)
AA=0.0266/133 (1000Genomes)
HGVS:: NC_000002.12:g.119651505_119651508del, NC_000002.12:g.119651506_119651508del, NC_000002.12:g.119651507_119651508del, NC_000002.12:g.119651508del, NC_000002.12:g.119651508dup, NC_000002.11:g.120409081_120409084del, NC_000002.11:g.120409082_120409084del, NC_000002.11:g.120409083_120409084del, NC_000002.11:g.120409084del, NC_000002.11:g.120409084dup

Select item 14912581346.

rs1491258134 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 2:119685446 (GRCh38)
2:120443022 (GRCh37)
Canonical SPDI:: NC_000002.12:119685445:AT:
Gene:: TMEM177 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000021/3 (GnomAD)
-=0.000312/2 (1000Genomes)
HGVS:: NC_000002.12:g.119685446_119685447del, NC_000002.11:g.120443022_120443023del

Select item 14912379417.

rs1491237941 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 2:119642533 (GRCh38)
2:120400109 (GRCh37)
Canonical SPDI:: NC_000002.12:119642532:CT:
Gene:: CFAP221 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00008/1 (ALFA)
-=0.00016/1 (1000Genomes)
-=0.00021/20 (GnomAD)
HGVS:: NC_000002.12:g.119642533_119642534del, NC_000002.11:g.120400109_120400110del

Select item 14912286688.

rs1491228668 has merged into rs55882416 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>-,GGGG,GGGGGG,GGGGTGTGTGTGTGTGTGTGTGATGATCAAAGACACCGGGGTGGGGG [Show Flanks]
Chromosome:: 2:119678565 (GRCh38)
2:120436141 (GRCh37)
Canonical SPDI:: NC_000002.12:119678563:GGG:G,NC_000002.12:119678563:GGG:GGGGG,NC_000002.12:119678563:GGG:GGGGGGG,NC_000002.12:119678563:GGG:GGGGGTGTGTGTGTGTGTGTGTGATGATCAAAGACACCGGGGTGGGGG
Gene:: TMEM177 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGG=0./0 (ALFA)
GG=0.225/9 (GENOME_DK)
GG=0.27097/1357 (1000Genomes)
-=0.62734/7852 (TOMMO)
HGVS:: NC_000002.12:g.119678565_119678566del, NC_000002.12:g.119678565_119678566dup, NC_000002.12:g.119678566_119678567insGGGG, NC_000002.12:g.119678564_119678566G[5]TG[9]ATGATCAAAGACACCGGGGTGGGGG[1], NC_000002.11:g.120436141_120436142del, NC_000002.11:g.120436141_120436142dup, NC_000002.11:g.120436142_120436143insGGGG, NC_000002.11:g.120436140_120436142G[5]TG[9]ATGATCAAAGACACCGGGGTGGGGG[1]

Select item 14912281939.

rs1491228193 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:119557958 (GRCh38)
2:120315534 (GRCh37)
Canonical SPDI:: NC_000002.12:119557957:CA:
Gene:: CFAP221 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000002.12:g.119557958_119557959del, NC_000002.11:g.120315534_120315535del

Select item 149120289810.

rs1491202898 has merged into rs869219019 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 2:119633731 (GRCh38)
2:120391307 (GRCh37)
Canonical SPDI:: NC_000002.12:119633729:ATA:A
Gene:: CFAP221 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.119633731_119633732del, NC_000002.11:g.120391307_120391308del

Select item 149117915311.

rs1491179153 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 2:119560044 (GRCh38)
2:120317621 (GRCh37)
Canonical SPDI:: NC_000002.12:119560044:C:CC
Gene:: CFAP221 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
C=0.00003/3 (GnomAD)
HGVS:: NC_000002.12:g.119560045dup, NC_000002.11:g.120317621dup

Select item 149116138712.

rs1491161387 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T,TT [Show Flanks]
Chromosome:: 2:119606170 (GRCh38)
2:120363747 (GRCh37)
Canonical SPDI:: NC_000002.12:119606170:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:119606170:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT
Gene:: CFAP221 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0.00188/21 (ALFA)
HGVS:: NC_000002.12:g.119606184dup, NC_000002.12:g.119606183_119606184dup, NC_000002.11:g.120363760dup, NC_000002.11:g.120363759_120363760dup

Select item 149115670313.

rs1491156703 has merged into rs56224952 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTT>-,T,TT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:119642543 (GRCh38)
2:120400119 (GRCh37)
Canonical SPDI:: NC_000002.12:119642533:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000002.12:119642533:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:119642533:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:119642533:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:119642533:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:119642533:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:119642533:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:119642533:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:119642533:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:119642533:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:119642533:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:119642533:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:119642533:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:119642533:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:119642533:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:119642533:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: CFAP221 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
TT=0.15/6 (GENOME_DK)
HGVS:: NC_000002.12:g.119642543_119642559del, NC_000002.12:g.119642544_119642559del, NC_000002.12:g.119642545_119642559del, NC_000002.12:g.119642547_119642559del, NC_000002.12:g.119642549_119642559del, NC_000002.12:g.119642550_119642559del, NC_000002.12:g.119642551_119642559del, NC_000002.12:g.119642553_119642559del, NC_000002.12:g.119642554_119642559del, NC_000002.12:g.119642555_119642559del, NC_000002.12:g.119642556_119642559del, NC_000002.12:g.119642557_119642559del, NC_000002.12:g.119642558_119642559del, NC_000002.12:g.119642559del, NC_000002.12:g.119642559dup, NC_000002.12:g.119642553_119642559dup, NC_000002.11:g.120400119_120400135del, NC_000002.11:g.120400120_120400135del, NC_000002.11:g.120400121_120400135del, NC_000002.11:g.120400123_120400135del, NC_000002.11:g.120400125_120400135del, NC_000002.11:g.120400126_120400135del, NC_000002.11:g.120400127_120400135del, NC_000002.11:g.120400129_120400135del, NC_000002.11:g.120400130_120400135del, NC_000002.11:g.120400131_120400135del, NC_000002.11:g.120400132_120400135del, NC_000002.11:g.120400133_120400135del, NC_000002.11:g.120400134_120400135del, NC_000002.11:g.120400135del, NC_000002.11:g.120400135dup, NC_000002.11:g.120400129_120400135dup

Select item 149107565514.

rs1491075655 has merged into rs10628972 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:119562264 (GRCh38)
2:120319840 (GRCh37)
Canonical SPDI:: NC_000002.12:119562253:AAAAAAAAAAAAA:AAAAAAAAAA,NC_000002.12:119562253:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:119562253:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:119562253:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:119562253:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:119562253:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:119562253:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:119562253:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:119562253:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:119562253:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:119562253:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:119562253:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:119562253:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:119562253:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:119562253:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CFAP221 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000002.12:g.119562264_119562266del, NC_000002.12:g.119562265_119562266del, NC_000002.12:g.119562266del, NC_000002.12:g.119562266dup, NC_000002.12:g.119562265_119562266dup, NC_000002.12:g.119562264_119562266dup, NC_000002.12:g.119562263_119562266dup, NC_000002.12:g.119562262_119562266dup, NC_000002.12:g.119562261_119562266dup, NC_000002.12:g.119562260_119562266dup, NC_000002.12:g.119562259_119562266dup, NC_000002.12:g.119562258_119562266dup, NC_000002.12:g.119562256_119562266dup, NC_000002.12:g.119562255_119562266dup, NC_000002.12:g.119562266_119562267insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.120319840_120319842del, NC_000002.11:g.120319841_120319842del, NC_000002.11:g.120319842del, NC_000002.11:g.120319842dup, NC_000002.11:g.120319841_120319842dup, NC_000002.11:g.120319840_120319842dup, NC_000002.11:g.120319839_120319842dup, NC_000002.11:g.120319838_120319842dup, NC_000002.11:g.120319837_120319842dup, NC_000002.11:g.120319836_120319842dup, NC_000002.11:g.120319835_120319842dup, NC_000002.11:g.120319834_120319842dup, NC_000002.11:g.120319832_120319842dup, NC_000002.11:g.120319831_120319842dup, NC_000002.11:g.120319842_120319843insAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 149106442315.

rs1491064423 [Homo sapiens]

Variant type:: DEL
Alleles:: GC>- [Show Flanks]
Chromosome:: 2:119562267 (GRCh38)
2:120319843 (GRCh37)
Canonical SPDI:: NC_000002.12:119562266:GC:
Gene:: CFAP221 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00559/91 (ALFA)
-=0.00195/33 (TOMMO)
HGVS:: NC_000002.12:g.119562267_119562268del, NC_000002.11:g.120319843_120319844del

Select item 149103285116.

rs1491032851 has merged into rs34072800 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGGG>-,GG,GGGGG,GGGGGG [Show Flanks]
Chromosome:: 2:119628292 (GRCh38)
2:120385868 (GRCh37)
Canonical SPDI:: NC_000002.12:119628289:GGGGGG:GG,NC_000002.12:119628289:GGGGGG:GGGG,NC_000002.12:119628289:GGGGGG:GGGGGGG,NC_000002.12:119628289:GGGGGG:GGGGGGGG
Gene:: CFAP221 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGG=0./0 (ALFA)
-=0.00004/0 (TOMMO)
HGVS:: NC_000002.12:g.119628292_119628295del, NC_000002.12:g.119628294_119628295del, NC_000002.12:g.119628295dup, NC_000002.12:g.119628294_119628295dup, NC_000002.11:g.120385868_120385871del, NC_000002.11:g.120385870_120385871del, NC_000002.11:g.120385871dup, NC_000002.11:g.120385870_120385871dup

Select item 149101923217.

rs1491019232 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 2:119584599 (GRCh38)
2:120342175 (GRCh37)
Canonical SPDI:: NC_000002.12:119584597:AGA:A
Gene:: CFAP221 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.119584599_119584600del, NC_000002.11:g.120342175_120342176del

Select item 149101417018.

rs1491014170 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 2:119668443 (GRCh38)
2:120426019 (GRCh37)
Canonical SPDI:: NC_000002.12:119668441:AGA:A
Validated:: by frequency
MAF:: -=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.119668443_119668444del, NC_000002.11:g.120426019_120426020del

Select item 149101382119.

rs1491013821 has merged into rs148304062 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACACACACACACACACACA>-,CA,CACA,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACA [Show Flanks]
Chromosome:: 2:119663064 (GRCh38)
2:120420640 (GRCh37)
Canonical SPDI:: NC_000002.12:119663048:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACA,NC_000002.12:119663048:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACA,NC_000002.12:119663048:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACA,NC_000002.12:119663048:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACA,NC_000002.12:119663048:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000002.12:119663048:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000002.12:119663048:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000002.12:119663048:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000002.12:119663048:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA,NC_000002.12:119663048:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA,NC_000002.12:119663048:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA,NC_000002.12:119663048:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACA,NC_000002.12:119663048:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:119663048:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:119663048:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:119663048:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:119663048:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:119663048:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:119663048:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:119663048:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:119663048:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:119663048:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACACACA=0./0 (ALFA)
HGVS:: NC_000002.12:g.119663050CA[7], NC_000002.12:g.119663050CA[8], NC_000002.12:g.119663050CA[9], NC_000002.12:g.119663050CA[10], NC_000002.12:g.119663050CA[11], NC_000002.12:g.119663050CA[12], NC_000002.12:g.119663050CA[13], NC_000002.12:g.119663050CA[14], NC_000002.12:g.119663050CA[15], NC_000002.12:g.119663050CA[16], NC_000002.12:g.119663050CA[17], NC_000002.12:g.119663050CA[19], NC_000002.12:g.119663050CA[20], NC_000002.12:g.119663050CA[21], NC_000002.12:g.119663050CA[22], NC_000002.12:g.119663050CA[23], NC_000002.12:g.119663050CA[24], NC_000002.12:g.119663050CA[25], NC_000002.12:g.119663050CA[26], NC_000002.12:g.119663050CA[27], NC_000002.12:g.119663050CA[28], NC_000002.12:g.119663050CA[29], NC_000002.11:g.120420626CA[7], NC_000002.11:g.120420626CA[8], NC_000002.11:g.120420626CA[9], NC_000002.11:g.120420626CA[10], NC_000002.11:g.120420626CA[11], NC_000002.11:g.120420626CA[12], NC_000002.11:g.120420626CA[13], NC_000002.11:g.120420626CA[14], NC_000002.11:g.120420626CA[15], NC_000002.11:g.120420626CA[16], NC_000002.11:g.120420626CA[17], NC_000002.11:g.120420626CA[19], NC_000002.11:g.120420626CA[20], NC_000002.11:g.120420626CA[21], NC_000002.11:g.120420626CA[22], NC_000002.11:g.120420626CA[23], NC_000002.11:g.120420626CA[24], NC_000002.11:g.120420626CA[25], NC_000002.11:g.120420626CA[26], NC_000002.11:g.120420626CA[27], NC_000002.11:g.120420626CA[28], NC_000002.11:g.120420626CA[29]

Select item 149100717820.

rs1491007178 has merged into rs112174494 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA [Show Flanks]
Chromosome:: 2:119666389 (GRCh38)
2:120423965 (GRCh37)
Canonical SPDI:: NC_000002.12:119666377:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:119666377:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:119666377:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:119666377:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:119666377:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:119666377:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:119666377:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:119666377:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.01552/9 (NorthernSweden)
A=0.02168/8 (1000Genomes)
-=0.175/7 (GENOME_DK)
HGVS:: NC_000002.12:g.119666389_119666392del, NC_000002.12:g.119666390_119666392del, NC_000002.12:g.119666391_119666392del, NC_000002.12:g.119666392del, NC_000002.12:g.119666392dup, NC_000002.12:g.119666391_119666392dup, NC_000002.12:g.119666390_119666392dup, NC_000002.12:g.119666388_119666392dup, NC_000002.11:g.120423965_120423968del, NC_000002.11:g.120423966_120423968del, NC_000002.11:g.120423967_120423968del, NC_000002.11:g.120423968del, NC_000002.11:g.120423968dup, NC_000002.11:g.120423967_120423968dup, NC_000002.11:g.120423966_120423968dup, NC_000002.11:g.120423964_120423968dup

<< First< Prev

Page of 1549

Next >Last >>

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 30977

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity