SNP Links for Gene (Select 55683) - SNP

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Select item 14915598301.

rs1491559830 has merged into rs1187630286 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>-,ATAT,ATATAT,ATATATAT [Show Flanks]
Chromosome:: 2:96611903 (GRCh38)
2:97277640 (GRCh37)
Canonical SPDI:: NC_000002.12:96611900:ATAT:AT,NC_000002.12:96611900:ATAT:ATATAT,NC_000002.12:96611900:ATAT:ATATATAT,NC_000002.12:96611900:ATAT:ATATATATAT
Gene:: KANSL3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATAT=0./0 (ALFA)
-=0.00109/7 (1000Genomes)
-=0.00437/8 (Korea1K)
HGVS:: NC_000002.12:g.96611901AT[1], NC_000002.12:g.96611901AT[3], NC_000002.12:g.96611901AT[4], NC_000002.12:g.96611901AT[5], NC_000002.11:g.97277638AT[1], NC_000002.11:g.97277638AT[3], NC_000002.11:g.97277638AT[4], NC_000002.11:g.97277638AT[5]

Select item 14915509672.

rs1491550967 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:96605561 (GRCh38)
2:97271298 (GRCh37)
Canonical SPDI:: NC_000002.12:96605559:ACA:A
Gene:: KANSL3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0./0 (TWINSUK)
-=0.000004/1 (GnomAD_exomes)
-=0.000008/1 (ExAC)
-=0.000008/2 (TOPMED)
-=0.000259/1 (ALSPAC)
HGVS:: NC_000002.12:g.96605561_96605562del, NC_000002.11:g.97271298_97271299del

Select item 14915205773.

rs1491520577 [Homo sapiens]

Variant type:: INS
Alleles:: ->ATAC,ATATATGG [Show Flanks]
Chromosome:: 2:96611904 (GRCh38)
2:97277642 (GRCh37)
Canonical SPDI:: NC_000002.12:96611904::ATAC,NC_000002.12:96611904::ATATATGG
Gene:: KANSL3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ATATATGG=0./0 (ALFA)
ATATATGG=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.96611904_96611905insATAC, NC_000002.12:g.96611904_96611905insATATATGG, NC_000002.11:g.97277641_97277642insATAC, NC_000002.11:g.97277641_97277642insATATATGG

Select item 14914039794.

rs1491403979 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 2:96611901 (GRCh38)
2:97277639 (GRCh37)
Canonical SPDI:: NC_000002.12:96611901:T:TGT,NC_000002.12:96611901:T:TGTGT,NC_000002.12:96611901:T:TGTGTGT,NC_000002.12:96611901:T:TGTGTGTGT,NC_000002.12:96611901:T:TGTGTGTGTGT,NC_000002.12:96611901:T:TGTGTGTGTGTGT,NC_000002.12:96611901:T:TGTGTGTGTGTGTGT,NC_000002.12:96611901:T:TGTGTGTGTGTGTGTGT,NC_000002.12:96611901:T:TGTGTGTGTGTGTGTGTGT,NC_000002.12:96611901:T:TGTGTGTGTGTGTGTGTGTGT,NC_000002.12:96611901:T:TGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:96611901:T:TGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: KANSL3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGT=0./0 (ALFA)
TGTG=0.00006/1 (TOMMO)
TG=0.00055/1 (Korea1K)
HGVS:: NC_000002.12:g.96611902_96611903insGT, NC_000002.12:g.96611902_96611903insGTGT, NC_000002.12:g.96611903GT[3], NC_000002.12:g.96611903GT[4], NC_000002.12:g.96611903GT[5], NC_000002.12:g.96611903GT[6], NC_000002.12:g.96611903GT[7], NC_000002.12:g.96611903GT[8], NC_000002.12:g.96611903GT[9], NC_000002.12:g.96611903GT[10], NC_000002.12:g.96611903GT[11], NC_000002.12:g.96611903GT[12], NC_000002.11:g.97277639_97277640insGT, NC_000002.11:g.97277639_97277640insGTGT, NC_000002.11:g.97277640GT[3], NC_000002.11:g.97277640GT[4], NC_000002.11:g.97277640GT[5], NC_000002.11:g.97277640GT[6], NC_000002.11:g.97277640GT[7], NC_000002.11:g.97277640GT[8], NC_000002.11:g.97277640GT[9], NC_000002.11:g.97277640GT[10], NC_000002.11:g.97277640GT[11], NC_000002.11:g.97277640GT[12]

Select item 14913456745.

rs1491345674 has merged into rs571521172 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA [Show Flanks]
Chromosome:: 2:96617570 (GRCh38)
2:97283307 (GRCh37)
Canonical SPDI:: NC_000002.12:96617557:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:96617557:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:96617557:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:96617557:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:96617557:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:96617557:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:96617557:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
Gene:: KANSL3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
A=0.005/3 (NorthernSweden)
A=0.15/6 (GENOME_DK)
HGVS:: NC_000002.12:g.96617570_96617573del, NC_000002.12:g.96617571_96617573del, NC_000002.12:g.96617572_96617573del, NC_000002.12:g.96617573del, NC_000002.12:g.96617573dup, NC_000002.12:g.96617572_96617573dup, NC_000002.12:g.96617571_96617573dup, NC_000002.11:g.97283307_97283310del, NC_000002.11:g.97283308_97283310del, NC_000002.11:g.97283309_97283310del, NC_000002.11:g.97283310del, NC_000002.11:g.97283310dup, NC_000002.11:g.97283309_97283310dup, NC_000002.11:g.97283308_97283310dup

Select item 14912788486.

rs1491278848 has merged into rs59217274 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGTGTGTGTGTGTGT>-,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 2:96611917 (GRCh38)
2:97277654 (GRCh37)
Canonical SPDI:: NC_000002.12:96611903:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGT,NC_000002.12:96611903:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000002.12:96611903:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000002.12:96611903:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:96611903:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:96611903:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:96611903:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:96611903:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:96611903:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:96611903:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:96611903:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:96611903:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:96611903:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:96611903:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:96611903:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:96611903:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:96611903:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:96611903:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:96611903:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:96611903:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:96611903:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:96611903:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:96611903:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:96611903:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:96611903:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: KANSL3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGTGTGT=0./0 (ALFA)
TGTGTGTGTG=0.11105/428 (ALSPAC)
TGTGTGTGTG=0.11354/421 (TWINSUK)
TGTGTG=0.20975/5918 (TOMMO)
HGVS:: NC_000002.12:g.96611905GT[6], NC_000002.12:g.96611905GT[9], NC_000002.12:g.96611905GT[10], NC_000002.12:g.96611905GT[11], NC_000002.12:g.96611905GT[12], NC_000002.12:g.96611905GT[13], NC_000002.12:g.96611905GT[14], NC_000002.12:g.96611905GT[15], NC_000002.12:g.96611905GT[16], NC_000002.12:g.96611905GT[18], NC_000002.12:g.96611905GT[19], NC_000002.12:g.96611905GT[20], NC_000002.12:g.96611905GT[21], NC_000002.12:g.96611905GT[22], NC_000002.12:g.96611905GT[23], NC_000002.12:g.96611905GT[24], NC_000002.12:g.96611905GT[25], NC_000002.12:g.96611905GT[26], NC_000002.12:g.96611905GT[27], NC_000002.12:g.96611905GT[28], NC_000002.12:g.96611905GT[29], NC_000002.12:g.96611905GT[30], NC_000002.12:g.96611905GT[31], NC_000002.12:g.96611905GT[32], NC_000002.12:g.96611905GT[34], NC_000002.11:g.97277642GT[6], NC_000002.11:g.97277642GT[9], NC_000002.11:g.97277642GT[10], NC_000002.11:g.97277642GT[11], NC_000002.11:g.97277642GT[12], NC_000002.11:g.97277642GT[13], NC_000002.11:g.97277642GT[14], NC_000002.11:g.97277642GT[15], NC_000002.11:g.97277642GT[16], NC_000002.11:g.97277642GT[18], NC_000002.11:g.97277642GT[19], NC_000002.11:g.97277642GT[20], NC_000002.11:g.97277642GT[21], NC_000002.11:g.97277642GT[22], NC_000002.11:g.97277642GT[23], NC_000002.11:g.97277642GT[24], NC_000002.11:g.97277642GT[25], NC_000002.11:g.97277642GT[26], NC_000002.11:g.97277642GT[27], NC_000002.11:g.97277642GT[28], NC_000002.11:g.97277642GT[29], NC_000002.11:g.97277642GT[30], NC_000002.11:g.97277642GT[31], NC_000002.11:g.97277642GT[32], NC_000002.11:g.97277642GT[34]

Select item 14911781397.

rs1491178139 has merged into rs35960339 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:96615177 (GRCh38)
2:97280914 (GRCh37)
Canonical SPDI:: NC_000002.12:96615165:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:96615165:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:96615165:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:96615165:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:96615165:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:96615165:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:96615165:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:96615165:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:96615165:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:96615165:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:96615165:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:96615165:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:96615165:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:96615165:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:96615165:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:96615165:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:96615165:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:96615165:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:96615165:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:96615165:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:96615165:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:96615165:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:96615165:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:96615165:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:96615165:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:96615165:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:96615165:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:96615165:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:96615165:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:96615165:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:96615165:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:96615165:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:96615165:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:96615165:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:96615165:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:96615165:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:96615165:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:96615165:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:96615165:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:96615165:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:96615165:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:96615165:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:96615165:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:96615165:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:96615165:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:96615165:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:96615165:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:96615165:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:96615165:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:96615165:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:96615165:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:96615165:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:96615165:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:96615165:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:96615165:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:96615165:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:96615165:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:96615165:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: KANSL3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000002.12:g.96615177_96615188del, NC_000002.12:g.96615178_96615188del, NC_000002.12:g.96615179_96615188del, NC_000002.12:g.96615180_96615188del, NC_000002.12:g.96615181_96615188del, NC_000002.12:g.96615182_96615188del, NC_000002.12:g.96615183_96615188del, NC_000002.12:g.96615184_96615188del, NC_000002.12:g.96615185_96615188del, NC_000002.12:g.96615186_96615188del, NC_000002.12:g.96615187_96615188del, NC_000002.12:g.96615188del, NC_000002.12:g.96615188dup, NC_000002.12:g.96615187_96615188dup, NC_000002.12:g.96615186_96615188dup, NC_000002.12:g.96615185_96615188dup, NC_000002.12:g.96615184_96615188dup, NC_000002.12:g.96615183_96615188dup, NC_000002.12:g.96615182_96615188dup, NC_000002.12:g.96615181_96615188dup, NC_000002.12:g.96615180_96615188dup, NC_000002.12:g.96615179_96615188dup, NC_000002.12:g.96615178_96615188dup, NC_000002.12:g.96615177_96615188dup, NC_000002.12:g.96615176_96615188dup, NC_000002.12:g.96615175_96615188dup, NC_000002.12:g.96615174_96615188dup, NC_000002.12:g.96615173_96615188dup, NC_000002.12:g.96615172_96615188dup, NC_000002.12:g.96615171_96615188dup, NC_000002.12:g.96615170_96615188dup, NC_000002.12:g.96615169_96615188dup, NC_000002.12:g.96615168_96615188dup, NC_000002.12:g.96615167_96615188dup, NC_000002.12:g.96615166_96615188dup, NC_000002.12:g.96615188_96615189insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.96615188_96615189insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.96615188_96615189insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.96615188_96615189insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.96615188_96615189insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.96615188_96615189insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.96615188_96615189insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.96615188_96615189insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.96615188_96615189insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.96615188_96615189insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.96615188_96615189insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.96615188_96615189insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.96615188_96615189insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.96615188_96615189insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.96615188_96615189insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.96615188_96615189insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.96615188_96615189insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.96615188_96615189insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.96615188_96615189insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.96615188_96615189insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.96615188_96615189insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.96615188_96615189insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.96615166_96615188A[28]TAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000002.11:g.97280914_97280925del, NC_000002.11:g.97280915_97280925del, NC_000002.11:g.97280916_97280925del, NC_000002.11:g.97280917_97280925del, NC_000002.11:g.97280918_97280925del, NC_000002.11:g.97280919_97280925del, NC_000002.11:g.97280920_97280925del, NC_000002.11:g.97280921_97280925del, NC_000002.11:g.97280922_97280925del, NC_000002.11:g.97280923_97280925del, NC_000002.11:g.97280924_97280925del, NC_000002.11:g.97280925del, NC_000002.11:g.97280925dup, NC_000002.11:g.97280924_97280925dup, NC_000002.11:g.97280923_97280925dup, NC_000002.11:g.97280922_97280925dup, NC_000002.11:g.97280921_97280925dup, NC_000002.11:g.97280920_97280925dup, NC_000002.11:g.97280919_97280925dup, NC_000002.11:g.97280918_97280925dup, NC_000002.11:g.97280917_97280925dup, NC_000002.11:g.97280916_97280925dup, NC_000002.11:g.97280915_97280925dup, NC_000002.11:g.97280914_97280925dup, NC_000002.11:g.97280913_97280925dup, NC_000002.11:g.97280912_97280925dup, NC_000002.11:g.97280911_97280925dup, NC_000002.11:g.97280910_97280925dup, NC_000002.11:g.97280909_97280925dup, NC_000002.11:g.97280908_97280925dup, NC_000002.11:g.97280907_97280925dup, NC_000002.11:g.97280906_97280925dup, NC_000002.11:g.97280905_97280925dup, NC_000002.11:g.97280904_97280925dup, NC_000002.11:g.97280903_97280925dup, NC_000002.11:g.97280925_97280926insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.97280925_97280926insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.97280925_97280926insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.97280925_97280926insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.97280925_97280926insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.97280925_97280926insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.97280925_97280926insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.97280925_97280926insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.97280925_97280926insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.97280925_97280926insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.97280925_97280926insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.97280925_97280926insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.97280925_97280926insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.97280925_97280926insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.97280925_97280926insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.97280925_97280926insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.97280925_97280926insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.97280925_97280926insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.97280925_97280926insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.97280925_97280926insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.97280925_97280926insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.97280925_97280926insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.97280903_97280925A[28]TAAAAAAAAAAAAAAAAAAAAAAAAA[1]

Select item 14911622838.

rs1491162283 has merged into rs10551331 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:96598920 (GRCh38)
2:97264657 (GRCh37)
Canonical SPDI:: NC_000002.12:96598908:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:96598908:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:96598908:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:96598908:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:96598908:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:96598908:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:96598908:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:96598908:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:96598908:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:96598908:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:96598908:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:96598908:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:96598908:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:96598908:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:96598908:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:96598908:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:96598908:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:96598908:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:96598908:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:96598908:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:96598908:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:96598908:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:96598908:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:96598908:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:96598908:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:96598908:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:96598908:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: KANSL3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.96598920_96598935del, NC_000002.12:g.96598922_96598935del, NC_000002.12:g.96598923_96598935del, NC_000002.12:g.96598924_96598935del, NC_000002.12:g.96598925_96598935del, NC_000002.12:g.96598926_96598935del, NC_000002.12:g.96598927_96598935del, NC_000002.12:g.96598928_96598935del, NC_000002.12:g.96598929_96598935del, NC_000002.12:g.96598930_96598935del, NC_000002.12:g.96598931_96598935del, NC_000002.12:g.96598932_96598935del, NC_000002.12:g.96598933_96598935del, NC_000002.12:g.96598934_96598935del, NC_000002.12:g.96598935del, NC_000002.12:g.96598935dup, NC_000002.12:g.96598934_96598935dup, NC_000002.12:g.96598933_96598935dup, NC_000002.12:g.96598932_96598935dup, NC_000002.12:g.96598931_96598935dup, NC_000002.12:g.96598930_96598935dup, NC_000002.12:g.96598929_96598935dup, NC_000002.12:g.96598928_96598935dup, NC_000002.12:g.96598935_96598936insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.96598935_96598936insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.96598935_96598936insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.96598935_96598936insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.97264657_97264672del, NC_000002.11:g.97264659_97264672del, NC_000002.11:g.97264660_97264672del, NC_000002.11:g.97264661_97264672del, NC_000002.11:g.97264662_97264672del, NC_000002.11:g.97264663_97264672del, NC_000002.11:g.97264664_97264672del, NC_000002.11:g.97264665_97264672del, NC_000002.11:g.97264666_97264672del, NC_000002.11:g.97264667_97264672del, NC_000002.11:g.97264668_97264672del, NC_000002.11:g.97264669_97264672del, NC_000002.11:g.97264670_97264672del, NC_000002.11:g.97264671_97264672del, NC_000002.11:g.97264672del, NC_000002.11:g.97264672dup, NC_000002.11:g.97264671_97264672dup, NC_000002.11:g.97264670_97264672dup, NC_000002.11:g.97264669_97264672dup, NC_000002.11:g.97264668_97264672dup, NC_000002.11:g.97264667_97264672dup, NC_000002.11:g.97264666_97264672dup, NC_000002.11:g.97264665_97264672dup, NC_000002.11:g.97264672_97264673insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.97264672_97264673insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.97264672_97264673insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.97264672_97264673insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14911509159.

rs1491150915 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:96598908 (GRCh38)
2:97264645 (GRCh37)
Canonical SPDI:: NC_000002.12:96598907:CA:
Gene:: KANSL3 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00118/14 (ALFA)
-=0.00044/12 (TOMMO)
HGVS:: NC_000002.12:g.96598908_96598909del, NC_000002.11:g.97264645_97264646del

Select item 149112600010.

rs1491126000 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:96615165 (GRCh38)
2:97280902 (GRCh37)
Canonical SPDI:: NC_000002.12:96615164:CA:
Gene:: KANSL3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00008/1 (ALFA)
-=0.00013/2 (GnomAD)
HGVS:: NC_000002.12:g.96615165_96615166del, NC_000002.11:g.97280902_97280903del

Select item 149108658711.

rs1491086587 has merged into rs35175492 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:96609963 (GRCh38)
2:97275700 (GRCh37)
Canonical SPDI:: NC_000002.12:96609950:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:96609950:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:96609950:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:96609950:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:96609950:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:96609950:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:96609950:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:96609950:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:96609950:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:96609950:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:96609950:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:96609950:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:96609950:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:96609950:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:96609950:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:96609950:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:96609950:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:96609950:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:96609950:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:96609950:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:96609950:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:96609950:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:96609950:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:96609950:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:96609950:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:96609950:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:96609950:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:96609950:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:96609950:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:96609950:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:96609950:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:96609950:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:96609950:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:96609950:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: KANSL3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
AAAA=0.281/1407 (1000Genomes)
HGVS:: NC_000002.12:g.96609963_96609980del, NC_000002.12:g.96609964_96609980del, NC_000002.12:g.96609965_96609980del, NC_000002.12:g.96609966_96609980del, NC_000002.12:g.96609967_96609980del, NC_000002.12:g.96609968_96609980del, NC_000002.12:g.96609969_96609980del, NC_000002.12:g.96609970_96609980del, NC_000002.12:g.96609971_96609980del, NC_000002.12:g.96609972_96609980del, NC_000002.12:g.96609973_96609980del, NC_000002.12:g.96609974_96609980del, NC_000002.12:g.96609975_96609980del, NC_000002.12:g.96609976_96609980del, NC_000002.12:g.96609977_96609980del, NC_000002.12:g.96609978_96609980del, NC_000002.12:g.96609979_96609980del, NC_000002.12:g.96609980del, NC_000002.12:g.96609980dup, NC_000002.12:g.96609979_96609980dup, NC_000002.12:g.96609978_96609980dup, NC_000002.12:g.96609977_96609980dup, NC_000002.12:g.96609976_96609980dup, NC_000002.12:g.96609975_96609980dup, NC_000002.12:g.96609974_96609980dup, NC_000002.12:g.96609973_96609980dup, NC_000002.12:g.96609971_96609980dup, NC_000002.12:g.96609969_96609980dup, NC_000002.12:g.96609968_96609980dup, NC_000002.12:g.96609967_96609980dup, NC_000002.12:g.96609964_96609980dup, NC_000002.12:g.96609958_96609980dup, NC_000002.12:g.96609980_96609981insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.96609980_96609981insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.97275700_97275717del, NC_000002.11:g.97275701_97275717del, NC_000002.11:g.97275702_97275717del, NC_000002.11:g.97275703_97275717del, NC_000002.11:g.97275704_97275717del, NC_000002.11:g.97275705_97275717del, NC_000002.11:g.97275706_97275717del, NC_000002.11:g.97275707_97275717del, NC_000002.11:g.97275708_97275717del, NC_000002.11:g.97275709_97275717del, NC_000002.11:g.97275710_97275717del, NC_000002.11:g.97275711_97275717del, NC_000002.11:g.97275712_97275717del, NC_000002.11:g.97275713_97275717del, NC_000002.11:g.97275714_97275717del, NC_000002.11:g.97275715_97275717del, NC_000002.11:g.97275716_97275717del, NC_000002.11:g.97275717del, NC_000002.11:g.97275717dup, NC_000002.11:g.97275716_97275717dup, NC_000002.11:g.97275715_97275717dup, NC_000002.11:g.97275714_97275717dup, NC_000002.11:g.97275713_97275717dup, NC_000002.11:g.97275712_97275717dup, NC_000002.11:g.97275711_97275717dup, NC_000002.11:g.97275710_97275717dup, NC_000002.11:g.97275708_97275717dup, NC_000002.11:g.97275706_97275717dup, NC_000002.11:g.97275705_97275717dup, NC_000002.11:g.97275704_97275717dup, NC_000002.11:g.97275701_97275717dup, NC_000002.11:g.97275695_97275717dup, NC_000002.11:g.97275717_97275718insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.97275717_97275718insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 149085245512.

rs1490852455 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:96639477 (GRCh38)
2:97305214 (GRCh37)
Canonical SPDI:: NC_000002.12:96639476:C:A
Gene:: KANSL3 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000021/3 (GnomAD)
A=0.00003/8 (TOPMED)
HGVS:: NC_000002.12:g.96639477C>A, NC_000002.11:g.97305214C>A

Select item 149080891613.

rs1490808916 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:96616245 (GRCh38)
2:97281982 (GRCh37)
Canonical SPDI:: NC_000002.12:96616244:G:A
Gene:: KANSL3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000019/5 (TOPMED)
A=0.000043/6 (GnomAD)
HGVS:: NC_000002.12:g.96616245G>A, NC_000002.11:g.97281982G>A

Select item 149080056914.

rs1490800569 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:96617019 (GRCh38)
2:97282756 (GRCh37)
Canonical SPDI:: NC_000002.12:96617018:C:T
Gene:: KANSL3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.96617019C>T, NC_000002.11:g.97282756C>T

Select item 149078777415.

rs1490787774 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:96609602 (GRCh38)
2:97275339 (GRCh37)
Canonical SPDI:: NC_000002.12:96609601:T:C
Gene:: KANSL3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.96609602T>C, NC_000002.11:g.97275339T>C

Select item 149078135216.

rs1490781352 has merged into rs1203356042 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,AAAAA,AAAAAAA [Show Flanks]
Chromosome:: 2:96633260 (GRCh38)
2:97298997 (GRCh37)
Canonical SPDI:: NC_000002.12:96633253:AAAAAAAAAAAA:AAAAAA,NC_000002.12:96633253:AAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:96633253:AAAAAAAAAAAA:AAAAAAAAAAAAA
Gene:: KANSL3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0.000054/1 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.96633260_96633265del, NC_000002.12:g.96633265del, NC_000002.12:g.96633265dup, NC_000002.11:g.97298997_97299002del, NC_000002.11:g.97299002del, NC_000002.11:g.97299002dup

Select item 149068585917.

rs1490685859 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 2:96599364 (GRCh38)
2:97265101 (GRCh37)
Canonical SPDI:: NC_000002.12:96599363:T:C,NC_000002.12:96599363:T:G
Gene:: KANSL3 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
G=0.000035/1 (TOMMO)
HGVS:: NC_000002.12:g.96599364T>C, NC_000002.12:g.96599364T>G, NC_000002.11:g.97265101T>C, NC_000002.11:g.97265101T>G

Select item 149064638818.

rs1490646388 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:96615076 (GRCh38)
2:97280813 (GRCh37)
Canonical SPDI:: NC_000002.12:96615075:G:A
Gene:: KANSL3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00003/8 (TOPMED)
A=0.000052/7 (GnomAD)
A=0.001667/1 (NorthernSweden)
HGVS:: NC_000002.12:g.96615076G>A, NC_000002.11:g.97280813G>A

Select item 149032938319.

rs1490329383 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:96617532 (GRCh38)
2:97283269 (GRCh37)
Canonical SPDI:: NC_000002.12:96617531:C:T
Gene:: KANSL3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.96617532C>T, NC_000002.11:g.97283269C>T

Select item 149023990420.

rs1490239904 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:96598828 (GRCh38)
2:97264565 (GRCh37)
Canonical SPDI:: NC_000002.12:96598827:T:A
Gene:: KANSL3 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.96598828T>A, NC_000002.11:g.97264565T>A

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