SNP Links for Gene (Select 286148) - SNP

Links from Gene

Items: 1 to 20 of 16780

<< First< Prev

Page of 839

Next >Last >>

Select item 14914852541.

rs1491485254 has merged into rs71567097 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCC>-,C,CC,CCCC,CCCCC,CCCCCC,CCCCCCCCCCCCC [Show Flanks]
Chromosome:: 8:94719276 (GRCh38)
8:95731504 (GRCh37)
Canonical SPDI:: NC_000008.11:94719267:CCCCCCCCCCC:CCCCCCCC,NC_000008.11:94719267:CCCCCCCCCCC:CCCCCCCCC,NC_000008.11:94719267:CCCCCCCCCCC:CCCCCCCCCC,NC_000008.11:94719267:CCCCCCCCCCC:CCCCCCCCCCCC,NC_000008.11:94719267:CCCCCCCCCCC:CCCCCCCCCCCCC,NC_000008.11:94719267:CCCCCCCCCCC:CCCCCCCCCCCCCC,NC_000008.11:94719267:CCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCC
Gene:: DPY19L4 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCCC=0./0 (ALFA)
-=0.15/6 (GENOME_DK)
HGVS:: NC_000008.11:g.94719276_94719278del, NC_000008.11:g.94719277_94719278del, NC_000008.11:g.94719278del, NC_000008.11:g.94719278dup, NC_000008.11:g.94719277_94719278dup, NC_000008.11:g.94719276_94719278dup, NC_000008.11:g.94719269_94719278dup, NC_000008.10:g.95731504_95731506del, NC_000008.10:g.95731505_95731506del, NC_000008.10:g.95731506del, NC_000008.10:g.95731506dup, NC_000008.10:g.95731505_95731506dup, NC_000008.10:g.95731504_95731506dup, NC_000008.10:g.95731497_95731506dup

Select item 14914565152.

rs1491456515 has merged into rs36116205 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTT>-,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 8:94781066 (GRCh38)
8:95793294 (GRCh37)
Canonical SPDI:: NC_000008.11:94781056:TTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000008.11:94781056:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000008.11:94781056:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000008.11:94781056:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000008.11:94781056:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000008.11:94781056:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000008.11:94781056:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000008.11:94781056:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000008.11:94781056:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000008.11:94781056:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:94781056:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:94781056:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:94781056:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:94781056:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:94781056:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:94781056:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:94781056:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: DPY19L4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTTTTTTT=0./0 (ALFA)
T=0.4253/2130 (1000Genomes)
HGVS:: NC_000008.11:g.94781066_94781074del, NC_000008.11:g.94781069_94781074del, NC_000008.11:g.94781071_94781074del, NC_000008.11:g.94781072_94781074del, NC_000008.11:g.94781073_94781074del, NC_000008.11:g.94781074del, NC_000008.11:g.94781074dup, NC_000008.11:g.94781073_94781074dup, NC_000008.11:g.94781072_94781074dup, NC_000008.11:g.94781071_94781074dup, NC_000008.11:g.94781070_94781074dup, NC_000008.11:g.94781069_94781074dup, NC_000008.11:g.94781068_94781074dup, NC_000008.11:g.94781066_94781074dup, NC_000008.11:g.94781062_94781074dup, NC_000008.11:g.94781057_94781074T[35]GTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.11:g.94781074_94781075insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.95793294_95793302del, NC_000008.10:g.95793297_95793302del, NC_000008.10:g.95793299_95793302del, NC_000008.10:g.95793300_95793302del, NC_000008.10:g.95793301_95793302del, NC_000008.10:g.95793302del, NC_000008.10:g.95793302dup, NC_000008.10:g.95793301_95793302dup, NC_000008.10:g.95793300_95793302dup, NC_000008.10:g.95793299_95793302dup, NC_000008.10:g.95793298_95793302dup, NC_000008.10:g.95793297_95793302dup, NC_000008.10:g.95793296_95793302dup, NC_000008.10:g.95793294_95793302dup, NC_000008.10:g.95793290_95793302dup, NC_000008.10:g.95793285_95793302T[35]GTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.10:g.95793302_95793303insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14914189163.

rs1491418916 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,ATA,ATATA,ATATATA,ATATATATA,ATATATATATA,ATATATATATATA,ATATATATATATATA [Show Flanks]
Chromosome:: 8:94764718 (GRCh38)
8:95776947 (GRCh37)
Canonical SPDI:: NC_000008.11:94764718::A,NC_000008.11:94764718::ATA,NC_000008.11:94764718::ATATA,NC_000008.11:94764718::ATATATA,NC_000008.11:94764718::ATATATATA,NC_000008.11:94764718::ATATATATATA,NC_000008.11:94764718::ATATATATATATA,NC_000008.11:94764718::ATATATATATATATA
Gene:: DPY19L4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATA=0./0 (ALFA)
A=0.01646/8 (NorthernSweden)
HGVS:: NC_000008.11:g.94764718_94764719insA, NC_000008.11:g.94764718_94764719insATA, NC_000008.11:g.94764718_94764719insATATA, NC_000008.11:g.94764718_94764719insATATATA, NC_000008.11:g.94764718_94764719insATATATATA, NC_000008.11:g.94764718_94764719insATATATATATA, NC_000008.11:g.94764718_94764719insATATATATATATA, NC_000008.11:g.94764718_94764719insATATATATATATATA, NC_000008.10:g.95776946_95776947insA, NC_000008.10:g.95776946_95776947insATA, NC_000008.10:g.95776946_95776947insATATA, NC_000008.10:g.95776946_95776947insATATATA, NC_000008.10:g.95776946_95776947insATATATATA, NC_000008.10:g.95776946_95776947insATATATATATA, NC_000008.10:g.95776946_95776947insATATATATATATA, NC_000008.10:g.95776946_95776947insATATATATATATATA

Select item 14914156484.

rs1491415648 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 8:94769062 (GRCh38)
8:95781290 (GRCh37)
Canonical SPDI:: NC_000008.11:94769060:TGT:T
Gene:: DPY19L4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.00018/3 (TOMMO)
-=0.00109/2 (Korea1K)
HGVS:: NC_000008.11:g.94769062_94769063del, NC_000008.10:g.95781290_95781291del

Select item 14913699535.

rs1491369953 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTGTGT [Show Flanks]
Chromosome:: 8:94764667 (GRCh38)
8:95776896 (GRCh37)
Canonical SPDI:: NC_000008.11:94764667:TGTGT:TGTGTCTGTGT
Gene:: DPY19L4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TGTGTCTGTGT=0.00034/4 (ALFA)
HGVS:: NC_000008.11:g.94764668_94764672TG[2]TCTGTGT[1], NC_000008.10:g.95776896_95776900TG[2]TCTGTGT[1]

Select item 14913540946.

rs1491354094 [Homo sapiens]

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

Select item 14913232347.

rs1491323234 has merged into rs1319486647 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 8:94773224 (GRCh38)
8:95785452 (GRCh37)
Canonical SPDI:: NC_000008.11:94773213:AAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000008.11:94773213:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000008.11:94773213:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000008.11:94773213:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000008.11:94773213:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000008.11:94773213:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000008.11:94773213:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000008.11:94773213:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000008.11:94773213:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000008.11:94773213:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000008.11:94773213:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:94773213:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:94773213:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: DPY19L4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.94773224_94773231del, NC_000008.11:g.94773226_94773231del, NC_000008.11:g.94773227_94773231del, NC_000008.11:g.94773228_94773231del, NC_000008.11:g.94773229_94773231del, NC_000008.11:g.94773230_94773231del, NC_000008.11:g.94773231del, NC_000008.11:g.94773231dup, NC_000008.11:g.94773230_94773231dup, NC_000008.11:g.94773229_94773231dup, NC_000008.11:g.94773226_94773231dup, NC_000008.11:g.94773222_94773231dup, NC_000008.11:g.94773231_94773232insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.95785452_95785459del, NC_000008.10:g.95785454_95785459del, NC_000008.10:g.95785455_95785459del, NC_000008.10:g.95785456_95785459del, NC_000008.10:g.95785457_95785459del, NC_000008.10:g.95785458_95785459del, NC_000008.10:g.95785459del, NC_000008.10:g.95785459dup, NC_000008.10:g.95785458_95785459dup, NC_000008.10:g.95785457_95785459dup, NC_000008.10:g.95785454_95785459dup, NC_000008.10:g.95785450_95785459dup, NC_000008.10:g.95785459_95785460insAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14913170258.

rs1491317025 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,ACCA,G,T [Show Flanks]
Chromosome:: 8:94719268 (GRCh38)
8:95731497 (GRCh37)
Canonical SPDI:: NC_000008.11:94719268::A,NC_000008.11:94719268::ACCA,NC_000008.11:94719268::G,NC_000008.11:94719268::T
Gene:: DPY19L4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACCA=0./0 (ALFA)
HGVS:: NC_000008.11:g.94719268_94719269insA, NC_000008.11:g.94719268_94719269insACCA, NC_000008.11:g.94719268_94719269insG, NC_000008.11:g.94719268_94719269insT, NC_000008.10:g.95731496_95731497insA, NC_000008.10:g.95731496_95731497insACCA, NC_000008.10:g.95731496_95731497insG, NC_000008.10:g.95731496_95731497insT

Select item 14912640259.

rs1491264025 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 8:94773213 (GRCh38)
8:95785441 (GRCh37)
Canonical SPDI:: NC_000008.11:94773212:CA:
Gene:: DPY19L4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000008.11:g.94773213_94773214del, NC_000008.10:g.95785441_95785442del

Select item 149126325910.

rs1491263259 has merged into rs201694887 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGT>-,GT,GTGTGT,GTGTGTCTGTGTGTGTGTGTGT,GTGTGTCTGTGTGTGTGTGTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 8:94764677 (GRCh38)
8:95776905 (GRCh37)
Canonical SPDI:: NC_000008.11:94764666:GTGTGTGTGTGTGT:GTGTGTGTGT,NC_000008.11:94764666:GTGTGTGTGTGTGT:GTGTGTGTGTGT,NC_000008.11:94764666:GTGTGTGTGTGTGT:GTGTGTGTGTGTGTGT,NC_000008.11:94764666:GTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTCTGTGTGTGTGTGTGT,NC_000008.11:94764666:GTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTCTGTGTGTGTGTGTGTGT,NC_000008.11:94764666:GTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGT,NC_000008.11:94764666:GTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGT,NC_000008.11:94764666:GTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:94764666:GTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:94764666:GTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:94764666:GTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: DPY19L4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGT=0./0 (ALFA)
GTGTGTGTGTGT=0.000004/1 (TOPMED)
-=0.00024/4 (TOMMO)
GTGTGT=0.001198/6 (1000Genomes)
GTGTGT=0.010453/6 (NorthernSweden)
HGVS:: NC_000008.11:g.94764667GT[5], NC_000008.11:g.94764667GT[6], NC_000008.11:g.94764667GT[8], NC_000008.11:g.94764667_94764680GT[8]CTGTGTGTGTGTGTGT[1], NC_000008.11:g.94764667_94764680GT[8]CTGTGTGTGTGTGTGTGT[1], NC_000008.11:g.94764667GT[9], NC_000008.11:g.94764667GT[10], NC_000008.11:g.94764667GT[11], NC_000008.11:g.94764667GT[12], NC_000008.11:g.94764667GT[13], NC_000008.11:g.94764667GT[14], NC_000008.10:g.95776895GT[5], NC_000008.10:g.95776895GT[6], NC_000008.10:g.95776895GT[8], NC_000008.10:g.95776895_95776908GT[8]CTGTGTGTGTGTGTGT[1], NC_000008.10:g.95776895_95776908GT[8]CTGTGTGTGTGTGTGTGT[1], NC_000008.10:g.95776895GT[9], NC_000008.10:g.95776895GT[10], NC_000008.10:g.95776895GT[11], NC_000008.10:g.95776895GT[12], NC_000008.10:g.95776895GT[13], NC_000008.10:g.95776895GT[14]

Select item 149125421211.

rs1491254212 has merged into rs758246219 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,TT,TTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT [Show Flanks]
Chromosome:: 8:94788102 (GRCh38)
8:95800330 (GRCh37)
Canonical SPDI:: NC_000008.11:94788095:TTTTTTTTTT:TTTTTT,NC_000008.11:94788095:TTTTTTTTTT:TTTTTTTT,NC_000008.11:94788095:TTTTTTTTTT:TTTTTTTTT,NC_000008.11:94788095:TTTTTTTTTT:TTTTTTTTTTT,NC_000008.11:94788095:TTTTTTTTTT:TTTTTTTTTTTT,NC_000008.11:94788095:TTTTTTTTTT:TTTTTTTTTTTTTT,NC_000008.11:94788095:TTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000008.11:94788095:TTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000008.11:94788095:TTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000008.11:94788095:TTTTTTTTTT:TTTTTTTTTTTTTTTTTT
Gene:: DPY19L4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
-=0.00057/9 (TOMMO)
HGVS:: NC_000008.11:g.94788102_94788105del, NC_000008.11:g.94788104_94788105del, NC_000008.11:g.94788105del, NC_000008.11:g.94788105dup, NC_000008.11:g.94788104_94788105dup, NC_000008.11:g.94788102_94788105dup, NC_000008.11:g.94788101_94788105dup, NC_000008.11:g.94788100_94788105dup, NC_000008.11:g.94788099_94788105dup, NC_000008.11:g.94788098_94788105dup, NC_000008.10:g.95800330_95800333del, NC_000008.10:g.95800332_95800333del, NC_000008.10:g.95800333del, NC_000008.10:g.95800333dup, NC_000008.10:g.95800332_95800333dup, NC_000008.10:g.95800330_95800333dup, NC_000008.10:g.95800329_95800333dup, NC_000008.10:g.95800328_95800333dup, NC_000008.10:g.95800327_95800333dup, NC_000008.10:g.95800326_95800333dup

Select item 149123623912.

rs1491236239 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 8:94742559 (GRCh38)
8:95754787 (GRCh37)
Canonical SPDI:: NC_000008.11:94742558:AT:
Gene:: DPY19L4 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000095/10 (GnomAD)
HGVS:: NC_000008.11:g.94742559_94742560del, NC_000008.10:g.95754787_95754788del

Select item 149118994113.

rs1491189941 has merged into rs869220296 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTT>-,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 8:94764726 (GRCh38)
8:95776954 (GRCh37)
Canonical SPDI:: NC_000008.11:94764717:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000008.11:94764717:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000008.11:94764717:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000008.11:94764717:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000008.11:94764717:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000008.11:94764717:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000008.11:94764717:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000008.11:94764717:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000008.11:94764717:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000008.11:94764717:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000008.11:94764717:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:94764717:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:94764717:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:94764717:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:94764717:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:94764717:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:94764717:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:94764717:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:94764717:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:94764717:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:94764717:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:94764717:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:94764717:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:94764717:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:94764717:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:94764717:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:94764717:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:94764717:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: DPY19L4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
HGVS:: NC_000008.11:g.94764726_94764742del, NC_000008.11:g.94764731_94764742del, NC_000008.11:g.94764732_94764742del, NC_000008.11:g.94764733_94764742del, NC_000008.11:g.94764734_94764742del, NC_000008.11:g.94764735_94764742del, NC_000008.11:g.94764736_94764742del, NC_000008.11:g.94764737_94764742del, NC_000008.11:g.94764738_94764742del, NC_000008.11:g.94764739_94764742del, NC_000008.11:g.94764740_94764742del, NC_000008.11:g.94764741_94764742del, NC_000008.11:g.94764742del, NC_000008.11:g.94764742dup, NC_000008.11:g.94764741_94764742dup, NC_000008.11:g.94764740_94764742dup, NC_000008.11:g.94764739_94764742dup, NC_000008.11:g.94764738_94764742dup, NC_000008.11:g.94764737_94764742dup, NC_000008.11:g.94764736_94764742dup, NC_000008.11:g.94764735_94764742dup, NC_000008.11:g.94764734_94764742dup, NC_000008.11:g.94764733_94764742dup, NC_000008.11:g.94764732_94764742dup, NC_000008.11:g.94764731_94764742dup, NC_000008.11:g.94764730_94764742dup, NC_000008.11:g.94764729_94764742dup, NC_000008.11:g.94764728_94764742dup, NC_000008.10:g.95776954_95776970del, NC_000008.10:g.95776959_95776970del, NC_000008.10:g.95776960_95776970del, NC_000008.10:g.95776961_95776970del, NC_000008.10:g.95776962_95776970del, NC_000008.10:g.95776963_95776970del, NC_000008.10:g.95776964_95776970del, NC_000008.10:g.95776965_95776970del, NC_000008.10:g.95776966_95776970del, NC_000008.10:g.95776967_95776970del, NC_000008.10:g.95776968_95776970del, NC_000008.10:g.95776969_95776970del, NC_000008.10:g.95776970del, NC_000008.10:g.95776970dup, NC_000008.10:g.95776969_95776970dup, NC_000008.10:g.95776968_95776970dup, NC_000008.10:g.95776967_95776970dup, NC_000008.10:g.95776966_95776970dup, NC_000008.10:g.95776965_95776970dup, NC_000008.10:g.95776964_95776970dup, NC_000008.10:g.95776963_95776970dup, NC_000008.10:g.95776962_95776970dup, NC_000008.10:g.95776961_95776970dup, NC_000008.10:g.95776960_95776970dup, NC_000008.10:g.95776959_95776970dup, NC_000008.10:g.95776958_95776970dup, NC_000008.10:g.95776957_95776970dup, NC_000008.10:g.95776956_95776970dup

Select item 149117624114.

rs1491176241 has merged into rs10601540 [Homo sapiens]

Variant type:: DELINS
Alleles:: GCGCGC>-,GC,GCGC,GCGCGCGC,GCGCGCGCGC [Show Flanks]
Chromosome:: 8:94788647 (GRCh38)
8:95800875 (GRCh37)
Canonical SPDI:: NC_000008.11:94788641:CGCGCGCGCGC:CGCGC,NC_000008.11:94788641:CGCGCGCGCGC:CGCGCGC,NC_000008.11:94788641:CGCGCGCGCGC:CGCGCGCGC,NC_000008.11:94788641:CGCGCGCGCGC:CGCGCGCGCGCGC,NC_000008.11:94788641:CGCGCGCGCGC:CGCGCGCGCGCGCGC
Gene:: DPY19L4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CGCGCGC=0./0 (ALFA)
HGVS:: NC_000008.11:g.94788643GC[2], NC_000008.11:g.94788643GC[3], NC_000008.11:g.94788643GC[4], NC_000008.11:g.94788643GC[6], NC_000008.11:g.94788643GC[7], NC_000008.10:g.95800871GC[2], NC_000008.10:g.95800871GC[3], NC_000008.10:g.95800871GC[4], NC_000008.10:g.95800871GC[6], NC_000008.10:g.95800871GC[7]

Select item 149117065615.

rs1491170656 [Homo sapiens]

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

Select item 149116811216.

rs1491168112 has merged into rs34777022 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT [Show Flanks]
Chromosome:: 8:94742574 (GRCh38)
8:95754802 (GRCh37)
Canonical SPDI:: NC_000008.11:94742559:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000008.11:94742559:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000008.11:94742559:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000008.11:94742559:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000008.11:94742559:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
Gene:: DPY19L4 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.17287/641 (TWINSUK)
-=0.17748/684 (ALSPAC)
-=0.21306/1067 (1000Genomes)
HGVS:: NC_000008.11:g.94742574_94742576del, NC_000008.11:g.94742575_94742576del, NC_000008.11:g.94742576del, NC_000008.11:g.94742576dup, NC_000008.11:g.94742575_94742576dup, NC_000008.10:g.95754802_95754804del, NC_000008.10:g.95754803_95754804del, NC_000008.10:g.95754804del, NC_000008.10:g.95754804dup, NC_000008.10:g.95754803_95754804dup

Select item 149115920417.

rs1491159204 has merged into rs374208413 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 8:94763265 (GRCh38)
8:95775493 (GRCh37)
Canonical SPDI:: NC_000008.11:94763254:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000008.11:94763254:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000008.11:94763254:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000008.11:94763254:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000008.11:94763254:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000008.11:94763254:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000008.11:94763254:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000008.11:94763254:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000008.11:94763254:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000008.11:94763254:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000008.11:94763254:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000008.11:94763254:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:94763254:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:94763254:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: DPY19L4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.273/1367 (1000Genomes)
HGVS:: NC_000008.11:g.94763265_94763276del, NC_000008.11:g.94763266_94763276del, NC_000008.11:g.94763267_94763276del, NC_000008.11:g.94763269_94763276del, NC_000008.11:g.94763270_94763276del, NC_000008.11:g.94763271_94763276del, NC_000008.11:g.94763272_94763276del, NC_000008.11:g.94763273_94763276del, NC_000008.11:g.94763274_94763276del, NC_000008.11:g.94763275_94763276del, NC_000008.11:g.94763276del, NC_000008.11:g.94763276dup, NC_000008.11:g.94763275_94763276dup, NC_000008.11:g.94763274_94763276dup, NC_000008.10:g.95775493_95775504del, NC_000008.10:g.95775494_95775504del, NC_000008.10:g.95775495_95775504del, NC_000008.10:g.95775497_95775504del, NC_000008.10:g.95775498_95775504del, NC_000008.10:g.95775499_95775504del, NC_000008.10:g.95775500_95775504del, NC_000008.10:g.95775501_95775504del, NC_000008.10:g.95775502_95775504del, NC_000008.10:g.95775503_95775504del, NC_000008.10:g.95775504del, NC_000008.10:g.95775504dup, NC_000008.10:g.95775503_95775504dup, NC_000008.10:g.95775502_95775504dup

Select item 149114596718.

rs1491145967 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 8:94731055 (GRCh38)
8:95743283 (GRCh37)
Canonical SPDI:: NC_000008.11:94731054:CA:
Gene:: DPY19L4 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000008.11:g.94731055_94731056del, NC_000008.10:g.95743283_95743284del

Select item 149110946319.

rs1491109463 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTC [Show Flanks]
Chromosome:: 8:94734091 (GRCh38)
8:95746320 (GRCh37)
Canonical SPDI:: NC_000008.11:94734091:CTC:CTCCTC
Gene:: DPY19L4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CTCCTC=0./0 (ALFA)
HGVS:: NC_000008.11:g.94734092_94734094dup, NC_000008.10:g.95746320_95746322dup

Select item 149110057320.

rs1491100573 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GC [Show Flanks]
Chromosome:: 8:94719263 (GRCh38)
8:95731492 (GRCh37)
Canonical SPDI:: NC_000008.11:94719263:C:CGC
Gene:: DPY19L4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CGC=0./0 (ALFA)
CG=0.00002/1 (GnomAD)
HGVS:: NC_000008.11:g.94719264_94719265insGC, NC_000008.10:g.95731492_95731493insGC

<< First< Prev

Page of 839

Next >Last >>

dbSNP

Result Filters

Clinical Significance

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 16780

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity