SNP Links for Gene (Select 54454) - SNP

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Select item 14915888171.

rs1491588817 has merged into rs6146683 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:23818378 (GRCh38)
2:24041248 (GRCh37)
Canonical SPDI:: NC_000002.12:23818362:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:23818362:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:23818362:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:23818362:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:23818362:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:23818362:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:23818362:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:23818362:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:23818362:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:23818362:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:23818362:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:23818362:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:23818362:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:23818362:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ATAD2B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAA=0./0 (ALFA)
AAAAAAAA=0.0343/172 (1000Genomes)
AAAAAAAA=0.2/8 (GENOME_DK)
HGVS:: NC_000002.12:g.23818378_23818387del, NC_000002.12:g.23818379_23818387del, NC_000002.12:g.23818380_23818387del, NC_000002.12:g.23818381_23818387del, NC_000002.12:g.23818382_23818387del, NC_000002.12:g.23818383_23818387del, NC_000002.12:g.23818384_23818387del, NC_000002.12:g.23818385_23818387del, NC_000002.12:g.23818386_23818387del, NC_000002.12:g.23818387del, NC_000002.12:g.23818387dup, NC_000002.12:g.23818386_23818387dup, NC_000002.12:g.23818385_23818387dup, NC_000002.12:g.23818378_23818387dup, NC_000002.11:g.24041248_24041257del, NC_000002.11:g.24041249_24041257del, NC_000002.11:g.24041250_24041257del, NC_000002.11:g.24041251_24041257del, NC_000002.11:g.24041252_24041257del, NC_000002.11:g.24041253_24041257del, NC_000002.11:g.24041254_24041257del, NC_000002.11:g.24041255_24041257del, NC_000002.11:g.24041256_24041257del, NC_000002.11:g.24041257del, NC_000002.11:g.24041257dup, NC_000002.11:g.24041256_24041257dup, NC_000002.11:g.24041255_24041257dup, NC_000002.11:g.24041248_24041257dup, NG_029017.2:g.113695_113704del, NG_029017.2:g.113696_113704del, NG_029017.2:g.113697_113704del, NG_029017.2:g.113698_113704del, NG_029017.2:g.113699_113704del, NG_029017.2:g.113700_113704del, NG_029017.2:g.113701_113704del, NG_029017.2:g.113702_113704del, NG_029017.2:g.113703_113704del, NG_029017.2:g.113704del, NG_029017.2:g.113704dup, NG_029017.2:g.113703_113704dup, NG_029017.2:g.113702_113704dup, NG_029017.2:g.113695_113704dup

Select item 14915876132.

rs1491587613 has merged into rs1553394964 [Homo sapiens]

Variant type:: DELINS
Alleles:: GC>-,GCGC,GCGCGC [Show Flanks]
Chromosome:: 2:23803342 (GRCh38)
2:24026212 (GRCh37)
Canonical SPDI:: NC_000002.12:23803338:CGCGC:CGC,NC_000002.12:23803338:CGCGC:CGCGCGC,NC_000002.12:23803338:CGCGC:CGCGCGCGC
Gene:: ATAD2B (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CGCGCGCGC=0./0 (ALFA)
CG=0.00109/2 (Korea1K)
-=0.01333/8 (NorthernSweden)
HGVS:: NC_000002.12:g.23803340GC[1], NC_000002.12:g.23803340GC[3], NC_000002.12:g.23803340GC[4], NC_000002.11:g.24026210GC[1], NC_000002.11:g.24026210GC[3], NC_000002.11:g.24026210GC[4], NG_029017.2:g.128725CG[1], NG_029017.2:g.128725CG[3], NG_029017.2:g.128725CG[4]

Select item 14915527983.

rs1491552798 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 2:23845597 (GRCh38)
2:24068468 (GRCh37)
Canonical SPDI:: NC_000002.12:23845597:G:GG
Gene:: ATAD2B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
G=0.000087/10 (GnomAD)
HGVS:: NC_000002.12:g.23845598dup, NC_000002.11:g.24068468dup, NG_029017.2:g.86469dup

Select item 14915462754.

rs1491546275 has merged into rs36015161 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:23792976 (GRCh38)
2:24015846 (GRCh37)
Canonical SPDI:: NC_000002.12:23792962:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:23792962:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:23792962:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:23792962:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:23792962:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:23792962:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:23792962:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:23792962:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:23792962:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:23792962:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:23792962:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:23792962:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:23792962:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:23792962:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:23792962:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:23792962:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:23792962:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:23792962:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:23792962:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:23792962:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:23792962:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:23792962:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:23792962:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:23792962:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:23792962:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:23792962:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:23792962:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:23792962:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:23792962:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:23792962:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:23792962:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:23792962:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:23792962:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:23792962:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:23792962:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:23792962:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:23792962:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ATAD2B (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
-=0.1316/5 (GENOME_DK)
HGVS:: NC_000002.12:g.23792976_23792990del, NC_000002.12:g.23792977_23792990del, NC_000002.12:g.23792978_23792990del, NC_000002.12:g.23792979_23792990del, NC_000002.12:g.23792980_23792990del, NC_000002.12:g.23792981_23792990del, NC_000002.12:g.23792982_23792990del, NC_000002.12:g.23792983_23792990del, NC_000002.12:g.23792984_23792990del, NC_000002.12:g.23792985_23792990del, NC_000002.12:g.23792986_23792990del, NC_000002.12:g.23792987_23792990del, NC_000002.12:g.23792988_23792990del, NC_000002.12:g.23792989_23792990del, NC_000002.12:g.23792990del, NC_000002.12:g.23792990dup, NC_000002.12:g.23792989_23792990dup, NC_000002.12:g.23792988_23792990dup, NC_000002.12:g.23792987_23792990dup, NC_000002.12:g.23792986_23792990dup, NC_000002.12:g.23792985_23792990dup, NC_000002.12:g.23792984_23792990dup, NC_000002.12:g.23792983_23792990dup, NC_000002.12:g.23792982_23792990dup, NC_000002.12:g.23792981_23792990dup, NC_000002.12:g.23792980_23792990dup, NC_000002.12:g.23792979_23792990dup, NC_000002.12:g.23792978_23792990dup, NC_000002.12:g.23792977_23792990dup, NC_000002.12:g.23792976_23792990dup, NC_000002.12:g.23792975_23792990dup, NC_000002.12:g.23792972_23792990dup, NC_000002.12:g.23792971_23792990dup, NC_000002.12:g.23792970_23792990dup, NC_000002.12:g.23792990_23792991insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.23792990_23792991insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.23792990_23792991insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.24015846_24015860del, NC_000002.11:g.24015847_24015860del, NC_000002.11:g.24015848_24015860del, NC_000002.11:g.24015849_24015860del, NC_000002.11:g.24015850_24015860del, NC_000002.11:g.24015851_24015860del, NC_000002.11:g.24015852_24015860del, NC_000002.11:g.24015853_24015860del, NC_000002.11:g.24015854_24015860del, NC_000002.11:g.24015855_24015860del, NC_000002.11:g.24015856_24015860del, NC_000002.11:g.24015857_24015860del, NC_000002.11:g.24015858_24015860del, NC_000002.11:g.24015859_24015860del, NC_000002.11:g.24015860del, NC_000002.11:g.24015860dup, NC_000002.11:g.24015859_24015860dup, NC_000002.11:g.24015858_24015860dup, NC_000002.11:g.24015857_24015860dup, NC_000002.11:g.24015856_24015860dup, NC_000002.11:g.24015855_24015860dup, NC_000002.11:g.24015854_24015860dup, NC_000002.11:g.24015853_24015860dup, NC_000002.11:g.24015852_24015860dup, NC_000002.11:g.24015851_24015860dup, NC_000002.11:g.24015850_24015860dup, NC_000002.11:g.24015849_24015860dup, NC_000002.11:g.24015848_24015860dup, NC_000002.11:g.24015847_24015860dup, NC_000002.11:g.24015846_24015860dup, NC_000002.11:g.24015845_24015860dup, NC_000002.11:g.24015842_24015860dup, NC_000002.11:g.24015841_24015860dup, NC_000002.11:g.24015840_24015860dup, NC_000002.11:g.24015860_24015861insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.24015860_24015861insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.24015860_24015861insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_029017.2:g.139090_139104del, NG_029017.2:g.139091_139104del, NG_029017.2:g.139092_139104del, NG_029017.2:g.139093_139104del, NG_029017.2:g.139094_139104del, NG_029017.2:g.139095_139104del, NG_029017.2:g.139096_139104del, NG_029017.2:g.139097_139104del, NG_029017.2:g.139098_139104del, NG_029017.2:g.139099_139104del, NG_029017.2:g.139100_139104del, NG_029017.2:g.139101_139104del, NG_029017.2:g.139102_139104del, NG_029017.2:g.139103_139104del, NG_029017.2:g.139104del, NG_029017.2:g.139104dup, NG_029017.2:g.139103_139104dup, NG_029017.2:g.139102_139104dup, NG_029017.2:g.139101_139104dup, NG_029017.2:g.139100_139104dup, NG_029017.2:g.139099_139104dup, NG_029017.2:g.139098_139104dup, NG_029017.2:g.139097_139104dup, NG_029017.2:g.139096_139104dup, NG_029017.2:g.139095_139104dup, NG_029017.2:g.139094_139104dup, NG_029017.2:g.139093_139104dup, NG_029017.2:g.139092_139104dup, NG_029017.2:g.139091_139104dup, NG_029017.2:g.139090_139104dup, NG_029017.2:g.139089_139104dup, NG_029017.2:g.139086_139104dup, NG_029017.2:g.139085_139104dup, NG_029017.2:g.139084_139104dup, NG_029017.2:g.139104_139105insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_029017.2:g.139104_139105insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_029017.2:g.139104_139105insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14915391095.

rs1491539109 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TACTT [Show Flanks]
Chromosome:: 2:23808171 (GRCh38)
2:24031042 (GRCh37)
Canonical SPDI:: NC_000002.12:23808171:T:TTACTT
Gene:: ATAD2B (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: TTACT=0.001/60 (GnomAD)
HGVS:: NC_000002.12:g.23808172_23808173insTACTT, NC_000002.11:g.24031042_24031043insTACTT, NG_029017.2:g.123895_123896insAGTAA, XM_011532930.4:c.*975_*976insAGTAA, XM_047444805.1:c.*975_*976insAGTAA

Select item 14915381616.

rs1491538161 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 2:23825108 (GRCh38)
2:24047979 (GRCh37)
Canonical SPDI:: NC_000002.12:23825108::T
Gene:: ATAD2B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: T=0.000019/2 (GnomAD)
HGVS:: NC_000002.12:g.23825108_23825109insT, NC_000002.11:g.24047978_24047979insT, NG_029017.2:g.106958_106959insA

Select item 14915257147.

rs1491525714 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 2:23807932 (GRCh38)
2:24030802 (GRCh37)
Canonical SPDI:: NC_000002.12:23807931:AA:
Gene:: ATAD2B (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000008/1 (GnomAD)
HGVS:: NC_000002.12:g.23807932_23807933del, NC_000002.11:g.24030802_24030803del, NG_029017.2:g.124134_124135del, XM_011532930.4:c.*1214_*1215del, XM_047444805.1:c.*1214_*1215del

Select item 14915241688.

rs1491524168 has merged into rs58411558 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,A,AA,AAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAACCAAGAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:23725053 (GRCh38)
2:23947923 (GRCh37)
Canonical SPDI:: NC_000002.12:23725042:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000002.12:23725042:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:23725042:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:23725042:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:23725042:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:23725042:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:23725042:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:23725042:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:23725042:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:23725042:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:23725042:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:23725042:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:23725042:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:23725042:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:23725042:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:23725042:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:23725042:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:23725042:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:23725042:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:23725042:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:23725042:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAACCAAGAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ATAD2B (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000002.12:g.23725053_23725066del, NC_000002.12:g.23725054_23725066del, NC_000002.12:g.23725055_23725066del, NC_000002.12:g.23725056_23725066del, NC_000002.12:g.23725058_23725066del, NC_000002.12:g.23725060_23725066del, NC_000002.12:g.23725061_23725066del, NC_000002.12:g.23725062_23725066del, NC_000002.12:g.23725063_23725066del, NC_000002.12:g.23725064_23725066del, NC_000002.12:g.23725065_23725066del, NC_000002.12:g.23725066del, NC_000002.12:g.23725066dup, NC_000002.12:g.23725065_23725066dup, NC_000002.12:g.23725064_23725066dup, NC_000002.12:g.23725063_23725066dup, NC_000002.12:g.23725062_23725066dup, NC_000002.12:g.23725061_23725066dup, NC_000002.12:g.23725060_23725066dup, NC_000002.12:g.23725059_23725066dup, NC_000002.12:g.23725043_23725066A[25]CCAAGAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000002.11:g.23947923_23947936del, NC_000002.11:g.23947924_23947936del, NC_000002.11:g.23947925_23947936del, NC_000002.11:g.23947926_23947936del, NC_000002.11:g.23947928_23947936del, NC_000002.11:g.23947930_23947936del, NC_000002.11:g.23947931_23947936del, NC_000002.11:g.23947932_23947936del, NC_000002.11:g.23947933_23947936del, NC_000002.11:g.23947934_23947936del, NC_000002.11:g.23947935_23947936del, NC_000002.11:g.23947936del, NC_000002.11:g.23947936dup, NC_000002.11:g.23947935_23947936dup, NC_000002.11:g.23947934_23947936dup, NC_000002.11:g.23947933_23947936dup, NC_000002.11:g.23947932_23947936dup, NC_000002.11:g.23947931_23947936dup, NC_000002.11:g.23947930_23947936dup, NC_000002.11:g.23947929_23947936dup, NC_000002.11:g.23947913_23947936A[25]CCAAGAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]

Select item 14915155009.

rs1491515500 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:23818362 (GRCh38)
2:24041232 (GRCh37)
Canonical SPDI:: NC_000002.12:23818361:CA:
Gene:: ATAD2B (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00017/2 (ALFA)
HGVS:: NC_000002.12:g.23818362_23818363del, NC_000002.11:g.24041232_24041233del, NG_029017.2:g.113704_113705del

Select item 149150444710.

rs1491504447 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:23725042 (GRCh38)
2:23947912 (GRCh37)
Canonical SPDI:: NC_000002.12:23725041:CA:
Gene:: ATAD2B (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.02419/287 (ALFA)
-=0.00083/24 (GnomAD)
-=0.00689/193 (TOMMO)
HGVS:: NC_000002.12:g.23725042_23725043del, NC_000002.11:g.23947912_23947913del

Select item 149150216311.

rs1491502163 [Homo sapiens]

Variant type:: DEL
Alleles:: AC>- [Show Flanks]
Chromosome:: 2:23893666 (GRCh38)
2:24116536 (GRCh37)
Canonical SPDI:: NC_000002.12:23893665:AC:
Gene:: ATAD2B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00093/11 (ALFA)
HGVS:: NC_000002.12:g.23893666_23893667del, NC_000002.11:g.24116536_24116537del, NG_029017.2:g.38400_38401del

Select item 149149266512.

rs1491492665 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TA [Show Flanks]
Chromosome:: 2:23792963 (GRCh38)
2:24015834 (GRCh37)
Canonical SPDI:: NC_000002.12:23792963:A:ATA
Gene:: ATAD2B (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATA=0.00344/38 (ALFA)
AT=0.01619/9 (NorthernSweden)
AT=0.12475/4407 (GnomAD)
HGVS:: NC_000002.12:g.23792964_23792965insTA, NC_000002.11:g.24015834_24015835insTA, NG_029017.2:g.139103_139104insAT

Select item 149148359513.

rs1491483595 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 2:23877085 (GRCh38)
2:24099955 (GRCh37)
Canonical SPDI:: NC_000002.12:23877083:AGA:A
Gene:: ATAD2B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000002.12:g.23877085_23877086del, NC_000002.11:g.24099955_24099956del, NG_029017.2:g.54982_54983del

Select item 149145633414.

rs1491456334 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 2:23893666 (GRCh38)
2:24116537 (GRCh37)
Canonical SPDI:: NC_000002.12:23893666:C:CC
Gene:: ATAD2B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
HGVS:: NC_000002.12:g.23893667dup, NC_000002.11:g.24116537dup, NG_029017.2:g.38400dup

Select item 149144679815.

rs1491446798 [Homo sapiens]

Variant type:: INS
Alleles:: ->ACACACGT [Show Flanks]
Chromosome:: 2:23803339 (GRCh38)
2:24026210 (GRCh37)
Canonical SPDI:: NC_000002.12:23803339::ACACACGT
Gene:: ATAD2B (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACGT=0./0 (ALFA)
ACACACGT=0.000004/1 (TOPMED)
ACACACGT=0.000009/1 (GnomAD)
HGVS:: NC_000002.12:g.23803339_23803340insACACACGT, NC_000002.11:g.24026209_24026210insACACACGT, NG_029017.2:g.128727_128728insACGTGTGT

Select item 149142648216.

rs1491426482 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 2:23892330 (GRCh38)
2:24115200 (GRCh37)
Canonical SPDI:: NC_000002.12:23892329:AT:
Gene:: ATAD2B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000002.12:g.23892330_23892331del, NC_000002.11:g.24115200_24115201del, NG_029017.2:g.39736_39737del

Select item 149141877617.

rs1491418776 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 2:23855428 (GRCh38)
2:24078298 (GRCh37)
Canonical SPDI:: NC_000002.12:23855426:AAA:A
Gene:: ATAD2B (Varview)
Functional Consequence:: intron_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.23855428_23855429del, NC_000002.11:g.24078298_24078299del, NG_029017.2:g.76639_76640del

Select item 149139627318.

rs1491396273 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 2:23808076 (GRCh38)
2:24030946 (GRCh37)
Canonical SPDI:: NC_000002.12:23808075:AG:
Gene:: ATAD2B (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by cluster
MAF:: -=0.000074/9 (GnomAD)
-=0.000312/2 (1000Genomes)
HGVS:: NC_000002.12:g.23808076_23808077del, NC_000002.11:g.24030946_24030947del, NG_029017.2:g.123990_123991del, XM_011532930.4:c.*1070_*1071del, XM_047444805.1:c.*1070_*1071del

Select item 149139537719.

rs1491395377 has merged into rs561379424 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT [Show Flanks]
Chromosome:: 2:23714250 (GRCh38)
2:23937120 (GRCh37)
Canonical SPDI:: NC_000002.12:23714239:TTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:23714239:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:23714239:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:23714239:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:23714239:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:23714239:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:23714239:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:23714239:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:23714239:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT
Gene:: ATAD2B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
-=0.000015/4 (TOPMED)
-=0.121805/610 (1000Genomes)
HGVS:: NC_000002.12:g.23714250_23714257del, NC_000002.12:g.23714253_23714257del, NC_000002.12:g.23714254_23714257del, NC_000002.12:g.23714255_23714257del, NC_000002.12:g.23714256_23714257del, NC_000002.12:g.23714257del, NC_000002.12:g.23714257dup, NC_000002.12:g.23714256_23714257dup, NC_000002.12:g.23714255_23714257dup, NC_000002.11:g.23937120_23937127del, NC_000002.11:g.23937123_23937127del, NC_000002.11:g.23937124_23937127del, NC_000002.11:g.23937125_23937127del, NC_000002.11:g.23937126_23937127del, NC_000002.11:g.23937127del, NC_000002.11:g.23937127dup, NC_000002.11:g.23937126_23937127dup, NC_000002.11:g.23937125_23937127dup

Select item 149139390520.

rs1491393905 has merged into rs1345557258 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>-,CACA [Show Flanks]
Chromosome:: 2:23747445 (GRCh38)
2:23970315 (GRCh37)
Canonical SPDI:: NC_000002.12:23747436:CACACACACA:CACACACA,NC_000002.12:23747436:CACACACACA:CACACACACACA
Gene:: ATAD2B (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACACA=0.000054/1 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000223/1 (Estonian)
HGVS:: NC_000002.12:g.23747437CA[4], NC_000002.12:g.23747437CA[6], NC_000002.11:g.23970307CA[4], NC_000002.11:g.23970307CA[6], NG_029017.2:g.184621TG[4], NG_029017.2:g.184621TG[6]

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