SNP Links for Gene (Select 8626) - SNP

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Select item 14915711491.

rs1491571149 has merged into rs1252694245 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATATAAATA>-,TATATAAATATATATAAATA [Show Flanks]
Chromosome:: 3:189677347 (GRCh38)
3:189395136 (GRCh37)
Canonical SPDI:: NC_000003.12:189677333:ATATATATAAATATATATAAATA:ATATATATAAATA,NC_000003.12:189677333:ATATATATAAATATATATAAATA:ATATATATAAATATATATAAATATATATAAATA
Gene:: TP63 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATAAATATATATAAATATATATAAATA=0./0 (ALFA)
HGVS:: NC_000003.12:g.189677337TATATAAATA[1], NC_000003.12:g.189677337TATATAAATA[3], NC_000003.11:g.189395126TATATAAATA[1], NC_000003.11:g.189395126TATATAAATA[3], NG_007550.3:g.85592TATATAAATA[1], NG_007550.3:g.85592TATATAAATA[3]

Select item 14915687922.

rs1491568792 has merged into rs576530590 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 3:189765446 (GRCh38)
3:189483235 (GRCh37)
Canonical SPDI:: NC_000003.12:189765433:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:189765433:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:189765433:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:189765433:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:189765433:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:189765433:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:189765433:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:189765433:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:189765433:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000003.12:189765433:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:189765433:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:189765433:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:189765433:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:189765433:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:189765433:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:189765433:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:189765433:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:189765433:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:189765433:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:189765433:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:189765433:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:189765433:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:189765433:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:189765433:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:189765433:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:189765433:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:189765433:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:189765433:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:189765433:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:189765433:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:189765433:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:189765433:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:189765433:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:189765433:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:189765433:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:189765433:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: TP63 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
-=0.0202/101 (1000Genomes)
HGVS:: NC_000003.12:g.189765446_189765454del, NC_000003.12:g.189765447_189765454del, NC_000003.12:g.189765448_189765454del, NC_000003.12:g.189765449_189765454del, NC_000003.12:g.189765450_189765454del, NC_000003.12:g.189765451_189765454del, NC_000003.12:g.189765452_189765454del, NC_000003.12:g.189765453_189765454del, NC_000003.12:g.189765454del, NC_000003.12:g.189765454dup, NC_000003.12:g.189765434_189765454T[22]ATTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.12:g.189765453_189765454dup, NC_000003.12:g.189765452_189765454dup, NC_000003.12:g.189765451_189765454dup, NC_000003.12:g.189765434_189765454T[25]CTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.12:g.189765450_189765454dup, NC_000003.12:g.189765449_189765454dup, NC_000003.12:g.189765448_189765454dup, NC_000003.12:g.189765447_189765454dup, NC_000003.12:g.189765434_189765454T[29]ATTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.12:g.189765446_189765454dup, NC_000003.12:g.189765445_189765454dup, NC_000003.12:g.189765444_189765454dup, NC_000003.12:g.189765443_189765454dup, NC_000003.12:g.189765442_189765454dup, NC_000003.12:g.189765441_189765454dup, NC_000003.12:g.189765440_189765454dup, NC_000003.12:g.189765439_189765454dup, NC_000003.12:g.189765438_189765454dup, NC_000003.12:g.189765437_189765454dup, NC_000003.12:g.189765436_189765454dup, NC_000003.12:g.189765435_189765454dup, NC_000003.12:g.189765434_189765454dup, NC_000003.12:g.189765454_189765455insTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.189765454_189765455insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.189765454_189765455insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.189483235_189483243del, NC_000003.11:g.189483236_189483243del, NC_000003.11:g.189483237_189483243del, NC_000003.11:g.189483238_189483243del, NC_000003.11:g.189483239_189483243del, NC_000003.11:g.189483240_189483243del, NC_000003.11:g.189483241_189483243del, NC_000003.11:g.189483242_189483243del, NC_000003.11:g.189483243del, NC_000003.11:g.189483243dup, NC_000003.11:g.189483223_189483243T[22]ATTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.11:g.189483242_189483243dup, NC_000003.11:g.189483241_189483243dup, NC_000003.11:g.189483240_189483243dup, NC_000003.11:g.189483223_189483243T[25]CTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.11:g.189483239_189483243dup, NC_000003.11:g.189483238_189483243dup, NC_000003.11:g.189483237_189483243dup, NC_000003.11:g.189483236_189483243dup, NC_000003.11:g.189483223_189483243T[29]ATTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.11:g.189483235_189483243dup, NC_000003.11:g.189483234_189483243dup, NC_000003.11:g.189483233_189483243dup, NC_000003.11:g.189483232_189483243dup, NC_000003.11:g.189483231_189483243dup, NC_000003.11:g.189483230_189483243dup, NC_000003.11:g.189483229_189483243dup, NC_000003.11:g.189483228_189483243dup, NC_000003.11:g.189483227_189483243dup, NC_000003.11:g.189483226_189483243dup, NC_000003.11:g.189483225_189483243dup, NC_000003.11:g.189483224_189483243dup, NC_000003.11:g.189483223_189483243dup, NC_000003.11:g.189483243_189483244insTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.189483243_189483244insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.189483243_189483244insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_007550.3:g.173701_173709del, NG_007550.3:g.173702_173709del, NG_007550.3:g.173703_173709del, NG_007550.3:g.173704_173709del, NG_007550.3:g.173705_173709del, NG_007550.3:g.173706_173709del, NG_007550.3:g.173707_173709del, NG_007550.3:g.173708_173709del, NG_007550.3:g.173709del, NG_007550.3:g.173709dup, NG_007550.3:g.173689_173709T[22]ATTTTTTTTTTTTTTTTTTTTTT[1], NG_007550.3:g.173708_173709dup, NG_007550.3:g.173707_173709dup, NG_007550.3:g.173706_173709dup, NG_007550.3:g.173689_173709T[25]CTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_007550.3:g.173705_173709dup, NG_007550.3:g.173704_173709dup, NG_007550.3:g.173703_173709dup, NG_007550.3:g.173702_173709dup, NG_007550.3:g.173689_173709T[29]ATTTTTTTTTTTTTTTTTTTTTTTT[1], NG_007550.3:g.173701_173709dup, NG_007550.3:g.173700_173709dup, NG_007550.3:g.173699_173709dup, NG_007550.3:g.173698_173709dup, NG_007550.3:g.173697_173709dup, NG_007550.3:g.173696_173709dup, NG_007550.3:g.173695_173709dup, NG_007550.3:g.173694_173709dup, NG_007550.3:g.173693_173709dup, NG_007550.3:g.173692_173709dup, NG_007550.3:g.173691_173709dup, NG_007550.3:g.173690_173709dup, NG_007550.3:g.173689_173709dup, NG_007550.3:g.173709_173710insTTTTTTTTTTTTTTTTTTTTTT, NG_007550.3:g.173709_173710insTTTTTTTTTTTTTTTTTTTTTTTT, NG_007550.3:g.173709_173710insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14915629713.

rs1491562971 has merged into rs56288032 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAGAAAGAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 3:189775229 (GRCh38)
3:189493018 (GRCh37)
Canonical SPDI:: NC_000003.12:189775220:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000003.12:189775220:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000003.12:189775220:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000003.12:189775220:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000003.12:189775220:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:189775220:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:189775220:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:189775220:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:189775220:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:189775220:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:189775220:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:189775220:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:189775220:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:189775220:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:189775220:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:189775220:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:189775220:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:189775220:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:189775220:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:189775220:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:189775220:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:189775220:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:189775220:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:189775220:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:189775220:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:189775220:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:189775220:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAGAAAGAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: TP63 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
HGVS:: NC_000003.12:g.189775229_189775242del, NC_000003.12:g.189775230_189775242del, NC_000003.12:g.189775231_189775242del, NC_000003.12:g.189775232_189775242del, NC_000003.12:g.189775233_189775242del, NC_000003.12:g.189775234_189775242del, NC_000003.12:g.189775235_189775242del, NC_000003.12:g.189775236_189775242del, NC_000003.12:g.189775237_189775242del, NC_000003.12:g.189775238_189775242del, NC_000003.12:g.189775239_189775242del, NC_000003.12:g.189775240_189775242del, NC_000003.12:g.189775241_189775242del, NC_000003.12:g.189775242del, NC_000003.12:g.189775242dup, NC_000003.12:g.189775241_189775242dup, NC_000003.12:g.189775240_189775242dup, NC_000003.12:g.189775239_189775242dup, NC_000003.12:g.189775238_189775242dup, NC_000003.12:g.189775237_189775242dup, NC_000003.12:g.189775236_189775242dup, NC_000003.12:g.189775235_189775242dup, NC_000003.12:g.189775234_189775242dup, NC_000003.12:g.189775233_189775242dup, NC_000003.12:g.189775232_189775242dup, NC_000003.12:g.189775231_189775242dup, NC_000003.12:g.189775221_189775242A[25]GAAA[2]A[22], NC_000003.11:g.189493018_189493031del, NC_000003.11:g.189493019_189493031del, NC_000003.11:g.189493020_189493031del, NC_000003.11:g.189493021_189493031del, NC_000003.11:g.189493022_189493031del, NC_000003.11:g.189493023_189493031del, NC_000003.11:g.189493024_189493031del, NC_000003.11:g.189493025_189493031del, NC_000003.11:g.189493026_189493031del, NC_000003.11:g.189493027_189493031del, NC_000003.11:g.189493028_189493031del, NC_000003.11:g.189493029_189493031del, NC_000003.11:g.189493030_189493031del, NC_000003.11:g.189493031del, NC_000003.11:g.189493031dup, NC_000003.11:g.189493030_189493031dup, NC_000003.11:g.189493029_189493031dup, NC_000003.11:g.189493028_189493031dup, NC_000003.11:g.189493027_189493031dup, NC_000003.11:g.189493026_189493031dup, NC_000003.11:g.189493025_189493031dup, NC_000003.11:g.189493024_189493031dup, NC_000003.11:g.189493023_189493031dup, NC_000003.11:g.189493022_189493031dup, NC_000003.11:g.189493021_189493031dup, NC_000003.11:g.189493020_189493031dup, NC_000003.11:g.189493010_189493031A[25]GAAA[2]A[22], NG_007550.3:g.183484_183497del, NG_007550.3:g.183485_183497del, NG_007550.3:g.183486_183497del, NG_007550.3:g.183487_183497del, NG_007550.3:g.183488_183497del, NG_007550.3:g.183489_183497del, NG_007550.3:g.183490_183497del, NG_007550.3:g.183491_183497del, NG_007550.3:g.183492_183497del, NG_007550.3:g.183493_183497del, NG_007550.3:g.183494_183497del, NG_007550.3:g.183495_183497del, NG_007550.3:g.183496_183497del, NG_007550.3:g.183497del, NG_007550.3:g.183497dup, NG_007550.3:g.183496_183497dup, NG_007550.3:g.183495_183497dup, NG_007550.3:g.183494_183497dup, NG_007550.3:g.183493_183497dup, NG_007550.3:g.183492_183497dup, NG_007550.3:g.183491_183497dup, NG_007550.3:g.183490_183497dup, NG_007550.3:g.183489_183497dup, NG_007550.3:g.183488_183497dup, NG_007550.3:g.183487_183497dup, NG_007550.3:g.183486_183497dup, NG_007550.3:g.183476_183497A[25]GAAA[2]A[22]

Select item 14915578394.

rs1491557839 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 3:189669030 (GRCh38)
3:189386820 (GRCh37)
Canonical SPDI:: NC_000003.12:189669030::C
Gene:: TP63 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.189669030_189669031insC, NC_000003.11:g.189386819_189386820insC, NG_007550.3:g.77285_77286insC

Select item 14915500555.

rs1491550055 [Homo sapiens]

Variant type:: INS
Alleles:: ->ATAAATATA [Show Flanks]
Chromosome:: 3:189771323 (GRCh38)
3:189489113 (GRCh37)
Canonical SPDI:: NC_000003.12:189771323::ATAAATATA
Gene:: TP63 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: ATAAATATA=0.00021/4 (TOMMO)
HGVS:: NC_000003.12:g.189771323_189771324insATAAATATA, NC_000003.11:g.189489112_189489113insATAAATATA, NG_007550.3:g.179578_179579insATAAATATA

Select item 14915428726.

rs1491542872 has merged into rs5855270 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,AA,AAA,AAAAA,AAAAAA [Show Flanks]
Chromosome:: 3:189688008 (GRCh38)
3:189405797 (GRCh37)
Canonical SPDI:: NC_000003.12:189687999:AAAAAAAAAAAA:AAAAAAAA,NC_000003.12:189687999:AAAAAAAAAAAA:AAAAAAAAAA,NC_000003.12:189687999:AAAAAAAAAAAA:AAAAAAAAAAA,NC_000003.12:189687999:AAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:189687999:AAAAAAAAAAAA:AAAAAAAAAAAAAA
Gene:: TP63 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
-=0.21685/1086 (1000Genomes)
-=0.22418/864 (ALSPAC)
-=0.23786/882 (TWINSUK)
HGVS:: NC_000003.12:g.189688008_189688011del, NC_000003.12:g.189688010_189688011del, NC_000003.12:g.189688011del, NC_000003.12:g.189688011dup, NC_000003.12:g.189688010_189688011dup, NC_000003.11:g.189405797_189405800del, NC_000003.11:g.189405799_189405800del, NC_000003.11:g.189405800del, NC_000003.11:g.189405800dup, NC_000003.11:g.189405799_189405800dup, NG_007550.3:g.96263_96266del, NG_007550.3:g.96265_96266del, NG_007550.3:g.96266del, NG_007550.3:g.96266dup, NG_007550.3:g.96265_96266dup

Select item 14915297077.

rs1491529707 has merged into rs749445372 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCTCTCTC>-,TCTCTC,TCTCTCTCTC [Show Flanks]
Chromosome:: 3:189837226 (GRCh38)
3:189555015 (GRCh37)
Canonical SPDI:: NC_000003.12:189837217:TCTCTCTCTCTCTCTC:TCTCTCTC,NC_000003.12:189837217:TCTCTCTCTCTCTCTC:TCTCTCTCTCTCTC,NC_000003.12:189837217:TCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTC
Gene:: TP63 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTCTCTCTCTCTC=0./0 (ALFA)
-=0.000223/59 (TOPMED)
-=0.007642/14 (Korea1K)
HGVS:: NC_000003.12:g.189837218TC[4], NC_000003.12:g.189837218TC[7], NC_000003.12:g.189837218TC[9], NC_000003.11:g.189555007TC[4], NC_000003.11:g.189555007TC[7], NC_000003.11:g.189555007TC[9], NG_007550.3:g.245473TC[4], NG_007550.3:g.245473TC[7], NG_007550.3:g.245473TC[9]

Select item 14915046498.

rs1491504649 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 3:189846706 (GRCh38)
3:189564495 (GRCh37)
Canonical SPDI:: NC_000003.12:189846705:TG:
Gene:: TP63 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00236/28 (ALFA)
-=0.000303/35 (GnomAD)
-=0.003089/52 (TOMMO)
HGVS:: NC_000003.12:g.189846706_189846707del, NC_000003.11:g.189564495_189564496del, NG_007550.3:g.254961_254962del

Select item 14914973149.

rs1491497314 has merged into rs140413709 [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 [Show Flanks]
Chromosome:: 3:189742256 (GRCh38)
3:189460045 (GRCh37)
Canonical SPDI:: NC_000003.12:189742243:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:189742243:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:189742243:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:189742243:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:189742243:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:189742243:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:189742243:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:189742243:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:189742243:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:189742243:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:189742243:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:189742243:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:189742243:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:189742243:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:189742243:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:189742243:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:189742243:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:189742243:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:189742243:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:189742243:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: TP63 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000003.12:g.189742256_189742270del, NC_000003.12:g.189742257_189742270del, NC_000003.12:g.189742258_189742270del, NC_000003.12:g.189742259_189742270del, NC_000003.12:g.189742260_189742270del, NC_000003.12:g.189742261_189742270del, NC_000003.12:g.189742262_189742270del, NC_000003.12:g.189742263_189742270del, NC_000003.12:g.189742264_189742270del, NC_000003.12:g.189742265_189742270del, NC_000003.12:g.189742266_189742270del, NC_000003.12:g.189742267_189742270del, NC_000003.12:g.189742268_189742270del, NC_000003.12:g.189742269_189742270del, NC_000003.12:g.189742270del, NC_000003.12:g.189742270dup, NC_000003.12:g.189742269_189742270dup, NC_000003.12:g.189742268_189742270dup, NC_000003.12:g.189742267_189742270dup, NC_000003.12:g.189742266_189742270dup, NC_000003.11:g.189460045_189460059del, NC_000003.11:g.189460046_189460059del, NC_000003.11:g.189460047_189460059del, NC_000003.11:g.189460048_189460059del, NC_000003.11:g.189460049_189460059del, NC_000003.11:g.189460050_189460059del, NC_000003.11:g.189460051_189460059del, NC_000003.11:g.189460052_189460059del, NC_000003.11:g.189460053_189460059del, NC_000003.11:g.189460054_189460059del, NC_000003.11:g.189460055_189460059del, NC_000003.11:g.189460056_189460059del, NC_000003.11:g.189460057_189460059del, NC_000003.11:g.189460058_189460059del, NC_000003.11:g.189460059del, NC_000003.11:g.189460059dup, NC_000003.11:g.189460058_189460059dup, NC_000003.11:g.189460057_189460059dup, NC_000003.11:g.189460056_189460059dup, NC_000003.11:g.189460055_189460059dup, NG_007550.3:g.150511_150525del, NG_007550.3:g.150512_150525del, NG_007550.3:g.150513_150525del, NG_007550.3:g.150514_150525del, NG_007550.3:g.150515_150525del, NG_007550.3:g.150516_150525del, NG_007550.3:g.150517_150525del, NG_007550.3:g.150518_150525del, NG_007550.3:g.150519_150525del, NG_007550.3:g.150520_150525del, NG_007550.3:g.150521_150525del, NG_007550.3:g.150522_150525del, NG_007550.3:g.150523_150525del, NG_007550.3:g.150524_150525del, NG_007550.3:g.150525del, NG_007550.3:g.150525dup, NG_007550.3:g.150524_150525dup, NG_007550.3:g.150523_150525dup, NG_007550.3:g.150522_150525dup, NG_007550.3:g.150521_150525dup

Select item 149149051410.

rs1491490514 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 3:189637223 (GRCh38)
3:189355013 (GRCh37)
Canonical SPDI:: NC_000003.12:189637223:T:TT
Gene:: TP63 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.189637224dup, NC_000003.11:g.189355013dup, NG_007550.3:g.45479dup

Select item 149148868711.

rs1491488687 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 3:189775220 (GRCh38)
3:189493009 (GRCh37)
Canonical SPDI:: NC_000003.12:189775219:CA:
Gene:: TP63 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00295/35 (ALFA)
-=0.0021/59 (TOMMO)
HGVS:: NC_000003.12:g.189775220_189775221del, NC_000003.11:g.189493009_189493010del, NG_007550.3:g.183475_183476del

Select item 149146217112.

rs1491462171 has merged into rs5855269 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA [Show Flanks]
Chromosome:: 3:189669030 (GRCh38)
3:189386819 (GRCh37)
Canonical SPDI:: NC_000003.12:189669021:AAAAAAAAAA:AAAAAAAA,NC_000003.12:189669021:AAAAAAAAAA:AAAAAAAAA,NC_000003.12:189669021:AAAAAAAAAA:AAAAAAAAAAA,NC_000003.12:189669021:AAAAAAAAAA:AAAAAAAAAAAA
Gene:: TP63 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0.0005/3 (ALFA)
-=0.4301/1487 (1000Genomes)
HGVS:: NC_000003.12:g.189669030_189669031del, NC_000003.12:g.189669031del, NC_000003.12:g.189669031dup, NC_000003.12:g.189669030_189669031dup, NC_000003.11:g.189386819_189386820del, NC_000003.11:g.189386820del, NC_000003.11:g.189386820dup, NC_000003.11:g.189386819_189386820dup, NG_007550.3:g.77285_77286del, NG_007550.3:g.77286del, NG_007550.3:g.77286dup, NG_007550.3:g.77285_77286dup

Select item 149145108113.

rs1491451081 has merged into rs1484082829 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT [Show Flanks]
Chromosome:: 3:189896977 (GRCh38)
3:189614766 (GRCh37)
Canonical SPDI:: NC_000003.12:189896976:TTTTTTTTTT:TTTTTTTTT,NC_000003.12:189896976:TTTTTTTTTT:TTTTTTTTTTT
Gene:: TP63 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0.000071/1 (ALFA)
-=0.000035/1 (TOMMO)
-=0.000121/32 (TOPMED)
-=0.003821/7 (Korea1K)
HGVS:: NC_000003.12:g.189896986del, NC_000003.12:g.189896986dup, NC_000003.11:g.189614775del, NC_000003.11:g.189614775dup, NG_007550.3:g.305241del, NG_007550.3:g.305241dup, NM_003722.5:c.*2484del, NM_003722.5:c.*2484dup, NM_003722.4:c.*2484del, NM_003722.4:c.*2484dup, NM_001329964.2:c.*2484del, NM_001329964.2:c.*2484dup, NM_001329964.1:c.*2484del, NM_001329964.1:c.*2484dup, NM_001329148.2:c.*2484del, NM_001329148.2:c.*2484dup, NM_001329148.1:c.*2484del, NM_001329148.1:c.*2484dup, NM_001114978.2:c.*2765del, NM_001114978.2:c.*2765dup, NM_001114978.1:c.*2765del, NM_001114978.1:c.*2765dup, NM_001329144.2:c.*2755del, NM_001329144.2:c.*2755dup, NM_001329144.1:c.*2755del, NM_001329144.1:c.*2755dup, NM_001114980.2:c.*2484del, NM_001114980.2:c.*2484dup, NM_001114980.1:c.*2484del, NM_001114980.1:c.*2484dup, NM_001114981.2:c.*2765del, NM_001114981.2:c.*2765dup, NM_001114981.1:c.*2765del, NM_001114981.1:c.*2765dup, NM_001329145.2:c.*2755del, NM_001329145.2:c.*2755dup, NM_001329145.1:c.*2755del, NM_001329145.1:c.*2755dup, NM_001329149.2:c.*2755del, NM_001329149.2:c.*2755dup, NM_001329149.1:c.*2755del, NM_001329149.1:c.*2755dup, NM_001329146.2:c.*2484del, NM_001329146.2:c.*2484dup, NM_001329146.1:c.*2484del, NM_001329146.1:c.*2484dup, NM_001329150.2:c.*2755del, NM_001329150.2:c.*2755dup, NM_001329150.1:c.*2755del, NM_001329150.1:c.*2755dup

Select item 149144303414.

rs1491443034 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 3:189771332 (GRCh38)
3:189489122 (GRCh37)
Canonical SPDI:: NC_000003.12:189771332::T
Gene:: TP63 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: T=0.000167/21 (GnomAD)
HGVS:: NC_000003.12:g.189771332_189771333insT, NC_000003.11:g.189489121_189489122insT, NG_007550.3:g.179587_179588insT

Select item 149142412315.

rs1491424123 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 3:189765454 (GRCh38)
3:189483243 (GRCh37)
Canonical SPDI:: NC_000003.12:189765453:TG:
Gene:: TP63 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000003.12:g.189765454_189765455del, NC_000003.11:g.189483243_189483244del, NG_007550.3:g.173709_173710del

Select item 149142008216.

rs1491420082 has merged into rs10524434 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACACACACA>-,CACACA,CACACACA,CACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA [Show Flanks]
Chromosome:: 3:189743511 (GRCh38)
3:189461300 (GRCh37)
Canonical SPDI:: NC_000003.12:189743503:ACACACACACACACACACA:ACACACA,NC_000003.12:189743503:ACACACACACACACACACA:ACACACACACACA,NC_000003.12:189743503:ACACACACACACACACACA:ACACACACACACACA,NC_000003.12:189743503:ACACACACACACACACACA:ACACACACACACACACA,NC_000003.12:189743503:ACACACACACACACACACA:ACACACACACACACACACACA,NC_000003.12:189743503:ACACACACACACACACACA:ACACACACACACACACACACACA,NC_000003.12:189743503:ACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000003.12:189743503:ACACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000003.12:189743503:ACACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000003.12:189743503:ACACACACACACACACACA:ACACACACACACACACACACACACACACACA
Gene:: TP63 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACACA=0./0 (ALFA)
-=0.000015/4 (TOPMED)
ACAC=0.190695/955 (1000Genomes)
ACAC=0.225/9 (GENOME_DK)
ACACAC=0.25/2 (KOREAN)
HGVS:: NC_000003.12:g.189743505CA[3], NC_000003.12:g.189743505CA[6], NC_000003.12:g.189743505CA[7], NC_000003.12:g.189743505CA[8], NC_000003.12:g.189743505CA[10], NC_000003.12:g.189743505CA[11], NC_000003.12:g.189743505CA[12], NC_000003.12:g.189743505CA[13], NC_000003.12:g.189743505CA[14], NC_000003.12:g.189743505CA[15], NC_000003.11:g.189461294CA[3], NC_000003.11:g.189461294CA[6], NC_000003.11:g.189461294CA[7], NC_000003.11:g.189461294CA[8], NC_000003.11:g.189461294CA[10], NC_000003.11:g.189461294CA[11], NC_000003.11:g.189461294CA[12], NC_000003.11:g.189461294CA[13], NC_000003.11:g.189461294CA[14], NC_000003.11:g.189461294CA[15], NG_007550.3:g.151760CA[3], NG_007550.3:g.151760CA[6], NG_007550.3:g.151760CA[7], NG_007550.3:g.151760CA[8], NG_007550.3:g.151760CA[10], NG_007550.3:g.151760CA[11], NG_007550.3:g.151760CA[12], NG_007550.3:g.151760CA[13], NG_007550.3:g.151760CA[14], NG_007550.3:g.151760CA[15]

Select item 149141398217.

rs1491413982 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 3:189745708 (GRCh38)
3:189463497 (GRCh37)
Canonical SPDI:: NC_000003.12:189745707:CA:
Gene:: TP63 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000003.12:g.189745708_189745709del, NC_000003.11:g.189463497_189463498del, NG_007550.3:g.153963_153964del

Select item 149140962418.

rs1491409624 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>- [Show Flanks]
Chromosome:: 3:189771324 (GRCh38)
3:189489113 (GRCh37)
Canonical SPDI:: NC_000003.12:189771322:TTT:T
Gene:: TP63 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
-=0.000024/3 (GnomAD)
HGVS:: NC_000003.12:g.189771324_189771325del, NC_000003.11:g.189489113_189489114del, NG_007550.3:g.179579_179580del

Select item 149139724819.

rs1491397248 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 3:189691338 (GRCh38)
3:189409127 (GRCh37)
Canonical SPDI:: NC_000003.12:189691337:CA:
Gene:: TP63 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00017/2 (ALFA)
HGVS:: NC_000003.12:g.189691338_189691339del, NC_000003.11:g.189409127_189409128del, NG_007550.3:g.99593_99594del

Select item 149139633120.

rs1491396331 [Homo sapiens]

Variant type:: SNV:
Alleles:: TA>-
Chromosome:: no mapping
Canonical SPDI:

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