SNP Links for Gene (Select 80264) - SNP

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Select item 14915230411.

rs1491523041 has merged into rs112328192 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT [Show Flanks]
Chromosome:: 19:21034552 (GRCh38)
19:21217358 (GRCh37)
Canonical SPDI:: NC_000019.10:21034539:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:21034539:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:21034539:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:21034539:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:21034539:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT
Gene:: ZNF430 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
-=0.1/4 (GENOME_DK)
-=0.11706/70 (NorthernSweden)
HGVS:: NC_000019.10:g.21034552_21034554del, NC_000019.10:g.21034553_21034554del, NC_000019.10:g.21034554del, NC_000019.10:g.21034554dup, NC_000019.10:g.21034553_21034554dup, NC_000019.9:g.21217358_21217360del, NC_000019.9:g.21217359_21217360del, NC_000019.9:g.21217360del, NC_000019.9:g.21217360dup, NC_000019.9:g.21217359_21217360dup, NW_003315962.1:g.377828_377830del, NW_003315962.1:g.377829_377830del, NW_003315962.1:g.377830del, NW_003315962.1:g.377830dup, NW_003315962.1:g.377829_377830dup

Select item 14915038082.

rs1491503808 has merged into rs746043747 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 19:21049185 (GRCh38)
19:21231991 (GRCh37)
Canonical SPDI:: NC_000019.10:21049173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:21049173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:21049173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:21049173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:21049173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:21049173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:21049173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:21049173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:21049173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:21049173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:21049173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:21049173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:21049173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:21049173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:21049173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:21049173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:21049173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:21049173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:21049173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:21049173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:21049173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:21049173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:21049173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:21049173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:21049173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:21049173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:21049173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:21049173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:21049173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:21049173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:21049173:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ZNF430 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000019.10:g.21049185_21049197del, NC_000019.10:g.21049186_21049197del, NC_000019.10:g.21049187_21049197del, NC_000019.10:g.21049188_21049197del, NC_000019.10:g.21049189_21049197del, NC_000019.10:g.21049190_21049197del, NC_000019.10:g.21049191_21049197del, NC_000019.10:g.21049192_21049197del, NC_000019.10:g.21049193_21049197del, NC_000019.10:g.21049194_21049197del, NC_000019.10:g.21049195_21049197del, NC_000019.10:g.21049196_21049197del, NC_000019.10:g.21049197del, NC_000019.10:g.21049197dup, NC_000019.10:g.21049196_21049197dup, NC_000019.10:g.21049195_21049197dup, NC_000019.10:g.21049194_21049197dup, NC_000019.10:g.21049193_21049197dup, NC_000019.10:g.21049192_21049197dup, NC_000019.10:g.21049191_21049197dup, NC_000019.10:g.21049190_21049197dup, NC_000019.10:g.21049189_21049197dup, NC_000019.10:g.21049188_21049197dup, NC_000019.10:g.21049187_21049197dup, NC_000019.10:g.21049186_21049197dup, NC_000019.10:g.21049185_21049197dup, NC_000019.10:g.21049184_21049197dup, NC_000019.10:g.21049180_21049197dup, NC_000019.10:g.21049179_21049197dup, NC_000019.10:g.21049197_21049198insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.10:g.21049174_21049197A[26]TAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000019.9:g.21231991_21232003del, NC_000019.9:g.21231992_21232003del, NC_000019.9:g.21231993_21232003del, NC_000019.9:g.21231994_21232003del, NC_000019.9:g.21231995_21232003del, NC_000019.9:g.21231996_21232003del, NC_000019.9:g.21231997_21232003del, NC_000019.9:g.21231998_21232003del, NC_000019.9:g.21231999_21232003del, NC_000019.9:g.21232000_21232003del, NC_000019.9:g.21232001_21232003del, NC_000019.9:g.21232002_21232003del, NC_000019.9:g.21232003del, NC_000019.9:g.21232003dup, NC_000019.9:g.21232002_21232003dup, NC_000019.9:g.21232001_21232003dup, NC_000019.9:g.21232000_21232003dup, NC_000019.9:g.21231999_21232003dup, NC_000019.9:g.21231998_21232003dup, NC_000019.9:g.21231997_21232003dup, NC_000019.9:g.21231996_21232003dup, NC_000019.9:g.21231995_21232003dup, NC_000019.9:g.21231994_21232003dup, NC_000019.9:g.21231993_21232003dup, NC_000019.9:g.21231992_21232003dup, NC_000019.9:g.21231991_21232003dup, NC_000019.9:g.21231990_21232003dup, NC_000019.9:g.21231986_21232003dup, NC_000019.9:g.21231985_21232003dup, NC_000019.9:g.21232003_21232004insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.21231980_21232003A[26]TAAAAAAAAAAAAAAAAAAAAAAAAAA[1]

Select item 14914927533.

rs1491492753 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 19:21019934 (GRCh38)
19:21202741 (GRCh37)
Canonical SPDI:: NC_000019.10:21019934::T
Gene:: ZNF430 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.00017/6 (GnomAD)
HGVS:: NC_000019.10:g.21019934_21019935insT, NC_000019.9:g.21202740_21202741insT, NW_003315962.1:g.363210_363211insT

Select item 14914855984.

rs1491485598 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 19:21019614 (GRCh38)
19:21202421 (GRCh37)
Canonical SPDI:: NC_000019.10:21019614::T
Gene:: ZNF430 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.00024/4 (GnomAD)
HGVS:: NC_000019.10:g.21019614_21019615insT, NC_000019.9:g.21202420_21202421insT, NW_003315962.1:g.362890_362891insT

Select item 14914818985.

rs1491481898 has merged into rs374578265 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A [Show Flanks]
Chromosome:: 19:21020032 (GRCh38)
19:21202838 (GRCh37)
Canonical SPDI:: NC_000019.10:21020028:AAAAA:AAA,NC_000019.10:21020028:AAAAA:AAAA
Gene:: ZNF430 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAA=0.00037/6 (ALFA)
-=0.00241/40 (TOMMO)
HGVS:: NC_000019.10:g.21020032_21020033del, NC_000019.10:g.21020033del, NC_000019.9:g.21202838_21202839del, NC_000019.9:g.21202839del, NW_003315962.1:g.363308_363309del, NW_003315962.1:g.363309del

Select item 14914752526.

rs1491475252 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 19:21049174 (GRCh38)
19:21231981 (GRCh37)
Canonical SPDI:: NC_000019.10:21049174::G
Gene:: ZNF430 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.21049174_21049175insG, NC_000019.9:g.21231980_21231981insG

Select item 14914699257.

rs1491469925 has merged into rs1467133680 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA [Show Flanks]
Chromosome:: 19:21019607 (GRCh38)
19:21202413 (GRCh37)
Canonical SPDI:: NC_000019.10:21019605:AAA:A,NC_000019.10:21019605:AAA:AA,NC_000019.10:21019605:AAA:AAAA
Gene:: ZNF430 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.00041/4 (GnomAD)
HGVS:: NC_000019.10:g.21019607_21019608del, NC_000019.10:g.21019608del, NC_000019.10:g.21019608dup, NC_000019.9:g.21202413_21202414del, NC_000019.9:g.21202414del, NC_000019.9:g.21202414dup, NW_003315962.1:g.362883_362884del, NW_003315962.1:g.362884del, NW_003315962.1:g.362884dup

Select item 14914312208.

rs1491431220 has merged into rs1555802246 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>-,GTGT,GTGTGT [Show Flanks]
Chromosome:: 19:21036224 (GRCh38)
19:21219030 (GRCh37)
Canonical SPDI:: NC_000019.10:21036212:TGTGTGTGTGTGT:TGTGTGTGTGT,NC_000019.10:21036212:TGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000019.10:21036212:TGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT
Gene:: ZNF430 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGT=0./0 (ALFA)
-=0.000008/2 (TOPMED)
TG=0.000014/2 (GnomAD)
-=0.002854/11 (ALSPAC)
-=0.003236/12 (TWINSUK)
HGVS:: NC_000019.10:g.21036214GT[5], NC_000019.10:g.21036214GT[7], NC_000019.10:g.21036214GT[8], NC_000019.9:g.21219020GT[5], NC_000019.9:g.21219020GT[7], NC_000019.9:g.21219020GT[8], NW_003315962.1:g.379490GT[5], NW_003315962.1:g.379490GT[7], NW_003315962.1:g.379490GT[8]

Select item 14913830459.

rs1491383045 [Homo sapiens]

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

Select item 149136710410.

rs1491367104 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TTAT [Show Flanks]
Chromosome:: 19:21019670 (GRCh38)
19:21202477 (GRCh37)
Canonical SPDI:: NC_000019.10:21019670:TAT:TATTTAT
Gene:: ZNF430 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: TATT=0.10721/1192 (GnomAD)
HGVS:: NC_000019.10:g.21019673_21019674insTTAT, NC_000019.9:g.21202479_21202480insTTAT, NW_003315962.1:g.362949_362950insTTAT

Select item 149136276911.

rs1491362769 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,AAA [Show Flanks]
Chromosome:: 19:21019615 (GRCh38)
19:21202421 (GRCh37)
Canonical SPDI:: NC_000019.10:21019613:AAA:A,NC_000019.10:21019613:AAA:AAAA
Gene:: ZNF430 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00244/29 (ALFA)
-=0.00013/2 (GnomAD)
HGVS:: NC_000019.10:g.21019615_21019616del, NC_000019.10:g.21019616dup, NC_000019.9:g.21202421_21202422del, NC_000019.9:g.21202422dup, NW_003315962.1:g.362891_362892del, NW_003315962.1:g.362892dup

Select item 149135315612.

rs1491353156 has merged into rs71174793 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAATAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 19:21059553 (GRCh38)
19:21242359 (GRCh37)
Canonical SPDI:: NC_000019.10:21059543:AAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000019.10:21059543:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000019.10:21059543:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:21059543:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:21059543:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:21059543:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:21059543:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:21059543:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:21059543:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:21059543:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:21059543:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:21059543:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:21059543:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:21059543:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAA,NC_000019.10:21059543:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAA,NC_000019.10:21059543:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ZNF430 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
AA=0.2175/1089 (1000Genomes)
AA=0.3889/14 (GENOME_DK)
HGVS:: NC_000019.10:g.21059553_21059562del, NC_000019.10:g.21059554_21059562del, NC_000019.10:g.21059556_21059562del, NC_000019.10:g.21059557_21059562del, NC_000019.10:g.21059558_21059562del, NC_000019.10:g.21059559_21059562del, NC_000019.10:g.21059560_21059562del, NC_000019.10:g.21059561_21059562del, NC_000019.10:g.21059562del, NC_000019.10:g.21059562dup, NC_000019.10:g.21059561_21059562dup, NC_000019.10:g.21059560_21059562dup, NC_000019.10:g.21059557_21059562dup, NC_000019.10:g.21059544_21059562A[21]TAAAAAAAAAAAAAAAAAAA[1], NC_000019.10:g.21059544_21059562A[21]TAAAAAAAAAAAAAAAAAAAA[1], NC_000019.10:g.21059544_21059562A[21]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000019.9:g.21242359_21242368del, NC_000019.9:g.21242360_21242368del, NC_000019.9:g.21242362_21242368del, NC_000019.9:g.21242363_21242368del, NC_000019.9:g.21242364_21242368del, NC_000019.9:g.21242365_21242368del, NC_000019.9:g.21242366_21242368del, NC_000019.9:g.21242367_21242368del, NC_000019.9:g.21242368del, NC_000019.9:g.21242368dup, NC_000019.9:g.21242367_21242368dup, NC_000019.9:g.21242366_21242368dup, NC_000019.9:g.21242363_21242368dup, NC_000019.9:g.21242350_21242368A[21]TAAAAAAAAAAAAAAAAAAA[1], NC_000019.9:g.21242350_21242368A[21]TAAAAAAAAAAAAAAAAAAAA[1], NC_000019.9:g.21242350_21242368A[21]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NM_025189.4:c.*1532_*1541del, NM_025189.4:c.*1533_*1541del, NM_025189.4:c.*1535_*1541del, NM_025189.4:c.*1536_*1541del, NM_025189.4:c.*1537_*1541del, NM_025189.4:c.*1538_*1541del, NM_025189.4:c.*1539_*1541del, NM_025189.4:c.*1540_*1541del, NM_025189.4:c.*1541del, NM_025189.4:c.*1541dup, NM_025189.4:c.*1540_*1541dup, NM_025189.4:c.*1539_*1541dup, NM_025189.4:c.*1536_*1541dup, NM_025189.4:c.*1523_*1541A[21]TAAAAAAAAAAAAAAAAAAA[1], NM_025189.4:c.*1523_*1541A[21]TAAAAAAAAAAAAAAAAAAAA[1], NM_025189.4:c.*1523_*1541A[21]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NM_025189.3:c.*1532_*1541del, NM_025189.3:c.*1533_*1541del, NM_025189.3:c.*1535_*1541del, NM_025189.3:c.*1536_*1541del, NM_025189.3:c.*1537_*1541del, NM_025189.3:c.*1538_*1541del, NM_025189.3:c.*1539_*1541del, NM_025189.3:c.*1540_*1541del, NM_025189.3:c.*1541del, NM_025189.3:c.*1541dup, NM_025189.3:c.*1540_*1541dup, NM_025189.3:c.*1539_*1541dup, NM_025189.3:c.*1536_*1541dup, NM_025189.3:c.*1523_*1541A[21]TAAAAAAAAAAAAAAAAAAA[1], NM_025189.3:c.*1523_*1541A[21]TAAAAAAAAAAAAAAAAAAAA[1], NM_025189.3:c.*1523_*1541A[21]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NM_001172671.2:c.*1532_*1541del, NM_001172671.2:c.*1533_*1541del, NM_001172671.2:c.*1535_*1541del, NM_001172671.2:c.*1536_*1541del, NM_001172671.2:c.*1537_*1541del, NM_001172671.2:c.*1538_*1541del, NM_001172671.2:c.*1539_*1541del, NM_001172671.2:c.*1540_*1541del, NM_001172671.2:c.*1541del, NM_001172671.2:c.*1541dup, NM_001172671.2:c.*1540_*1541dup, NM_001172671.2:c.*1539_*1541dup, NM_001172671.2:c.*1536_*1541dup, NM_001172671.2:c.*1523_*1541A[21]TAAAAAAAAAAAAAAAAAAA[1], NM_001172671.2:c.*1523_*1541A[21]TAAAAAAAAAAAAAAAAAAAA[1], NM_001172671.2:c.*1523_*1541A[21]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NM_001172671.1:c.*1532_*1541del, NM_001172671.1:c.*1533_*1541del, NM_001172671.1:c.*1535_*1541del, NM_001172671.1:c.*1536_*1541del, NM_001172671.1:c.*1537_*1541del, NM_001172671.1:c.*1538_*1541del, NM_001172671.1:c.*1539_*1541del, NM_001172671.1:c.*1540_*1541del, NM_001172671.1:c.*1541del, NM_001172671.1:c.*1541dup, NM_001172671.1:c.*1540_*1541dup, NM_001172671.1:c.*1539_*1541dup, NM_001172671.1:c.*1536_*1541dup, NM_001172671.1:c.*1523_*1541A[21]TAAAAAAAAAAAAAAAAAAA[1], NM_001172671.1:c.*1523_*1541A[21]TAAAAAAAAAAAAAAAAAAAA[1], NM_001172671.1:c.*1523_*1541A[21]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], XM_047439464.1:c.*1532_*1541del, XM_047439464.1:c.*1533_*1541del, XM_047439464.1:c.*1535_*1541del, XM_047439464.1:c.*1536_*1541del, XM_047439464.1:c.*1537_*1541del, XM_047439464.1:c.*1538_*1541del, XM_047439464.1:c.*1539_*1541del, XM_047439464.1:c.*1540_*1541del, XM_047439464.1:c.*1541del, XM_047439464.1:c.*1541dup, XM_047439464.1:c.*1540_*1541dup, XM_047439464.1:c.*1539_*1541dup, XM_047439464.1:c.*1536_*1541dup, XM_047439464.1:c.*1523_*1541A[21]TAAAAAAAAAAAAAAAAAAA[1], XM_047439464.1:c.*1523_*1541A[21]TAAAAAAAAAAAAAAAAAAAA[1], XM_047439464.1:c.*1523_*1541A[21]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], XM_047439465.1:c.*1532_*1541del, XM_047439465.1:c.*1533_*1541del, XM_047439465.1:c.*1535_*1541del, XM_047439465.1:c.*1536_*1541del, XM_047439465.1:c.*1537_*1541del, XM_047439465.1:c.*1538_*1541del, XM_047439465.1:c.*1539_*1541del, XM_047439465.1:c.*1540_*1541del, XM_047439465.1:c.*1541del, XM_047439465.1:c.*1541dup, XM_047439465.1:c.*1540_*1541dup, XM_047439465.1:c.*1539_*1541dup, XM_047439465.1:c.*1536_*1541dup, XM_047439465.1:c.*1523_*1541A[21]TAAAAAAAAAAAAAAAAAAA[1], XM_047439465.1:c.*1523_*1541A[21]TAAAAAAAAAAAAAAAAAAAA[1], XM_047439465.1:c.*1523_*1541A[21]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]

Select item 149135152613.

rs1491351526 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TATAAATATATAAATATATAAATATCAATATATA [Show Flanks]
Chromosome:: 19:21019628 (GRCh38)
19:21202435 (GRCh37)
Canonical SPDI:: NC_000019.10:21019628:AATATATA:AATATATATATAAATATATAAATATATAAATATCAATATATA
Gene:: ZNF430 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: AATATATATATAAATATATAAATATATAAATATC=0.00011/2 (GnomAD)
HGVS:: NC_000019.10:g.21019636_21019637insTATAAATATATAAATATATAAATATCAATATATA, NC_000019.9:g.21202442_21202443insTATAAATATATAAATATATAAATATCAATATATA, NW_003315962.1:g.362912_362913insTATAAATATATAAATATATAAATATCAATATATA

Select item 149133981014.

rs1491339810 [Homo sapiens]

Variant type:: INS
Alleles:: ->T,TAAATACATATATAAATATAT [Show Flanks]
Chromosome:: 19:21020029 (GRCh38)
19:21202836 (GRCh37)
Canonical SPDI:: NC_000019.10:21020029::T,NC_000019.10:21020029::TAAATACATATATAAATATAT
Gene:: ZNF430 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000019.10:g.21020029_21020030insT, NC_000019.10:g.21020029_21020030insTAAATACATATATAAATATAT, NC_000019.9:g.21202835_21202836insT, NC_000019.9:g.21202835_21202836insTAAATACATATATAAATATAT, NW_003315962.1:g.363305_363306insT, NW_003315962.1:g.363305_363306insTAAATACATATATAAATATAT

Select item 149133636815.

rs1491336368 has merged into rs1046406965 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,TT,TTT,TTTTT [Show Flanks]
Chromosome:: 19:21055442 (GRCh38)
19:21238248 (GRCh37)
Canonical SPDI:: NC_000019.10:21055434:TTTTTTTTTTT:TTTTTTT,NC_000019.10:21055434:TTTTTTTTTTT:TTTTTTTTT,NC_000019.10:21055434:TTTTTTTTTTT:TTTTTTTTTT,NC_000019.10:21055434:TTTTTTTTTTT:TTTTTTTTTTTT
Gene:: ZNF430 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
T=0.0016/27 (TOMMO)
T=0.01541/9 (NorthernSweden)
HGVS:: NC_000019.10:g.21055442_21055445del, NC_000019.10:g.21055444_21055445del, NC_000019.10:g.21055445del, NC_000019.10:g.21055445dup, NC_000019.9:g.21238248_21238251del, NC_000019.9:g.21238250_21238251del, NC_000019.9:g.21238251del, NC_000019.9:g.21238251dup

Select item 149132773816.

rs1491327738 [Homo sapiens]

Variant type:: INS
Alleles:: ->TT [Show Flanks]
Chromosome:: 19:21019606 (GRCh38)
19:21202413 (GRCh37)
Canonical SPDI:: NC_000019.10:21019606::TT
Gene:: ZNF430 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
HGVS:: NC_000019.10:g.21019606_21019607insTT, NC_000019.9:g.21202412_21202413insTT, NW_003315962.1:g.362882_362883insTT

Select item 149131320417.

rs1491313204 has merged into rs1379788230 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATA>-,TA,TATATA,TATATATA [Show Flanks]
Chromosome:: 19:21019675 (GRCh38)
19:21202481 (GRCh37)
Canonical SPDI:: NC_000019.10:21019669:ATATATATA:ATATA,NC_000019.10:21019669:ATATATATA:ATATATA,NC_000019.10:21019669:ATATATATA:ATATATATATA,NC_000019.10:21019669:ATATATATA:ATATATATATATA
Gene:: ZNF430 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATA=0./0 (ALFA)
ATAT=0.00022/2 (TOMMO)
HGVS:: NC_000019.10:g.21019671TA[2], NC_000019.10:g.21019671TA[3], NC_000019.10:g.21019671TA[5], NC_000019.10:g.21019671TA[6], NC_000019.9:g.21202477TA[2], NC_000019.9:g.21202477TA[3], NC_000019.9:g.21202477TA[5], NC_000019.9:g.21202477TA[6], NW_003315962.1:g.362947TA[2], NW_003315962.1:g.362947TA[3], NW_003315962.1:g.362947TA[5], NW_003315962.1:g.362947TA[6]

Select item 149130643718.

rs1491306437 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 19:21019796 (GRCh38)
19:21202602 (GRCh37)
Canonical SPDI:: NC_000019.10:21019795:AA:
Gene:: ZNF430 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00034/4 (ALFA)
HGVS:: NC_000019.10:g.21019796_21019797del, NC_000019.9:g.21202602_21202603del, NW_003315962.1:g.363072_363073del

Select item 149130615119.

rs1491306151 has merged into rs1438588294 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATATATA>-,TA,TATA,TATATA,TATATATATA [Show Flanks]
Chromosome:: 19:21019621 (GRCh38)
19:21202427 (GRCh37)
Canonical SPDI:: NC_000019.10:21019615:ATATATATATATA:ATATA,NC_000019.10:21019615:ATATATATATATA:ATATATA,NC_000019.10:21019615:ATATATATATATA:ATATATATA,NC_000019.10:21019615:ATATATATATATA:ATATATATATA,NC_000019.10:21019615:ATATATATATATA:ATATATATATATATA
Gene:: ZNF430 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATA=0./0 (ALFA)
HGVS:: NC_000019.10:g.21019617TA[2], NC_000019.10:g.21019617TA[3], NC_000019.10:g.21019617TA[4], NC_000019.10:g.21019617TA[5], NC_000019.10:g.21019617TA[7], NC_000019.9:g.21202423TA[2], NC_000019.9:g.21202423TA[3], NC_000019.9:g.21202423TA[4], NC_000019.9:g.21202423TA[5], NC_000019.9:g.21202423TA[7], NW_003315962.1:g.362893TA[2], NW_003315962.1:g.362893TA[3], NW_003315962.1:g.362893TA[4], NW_003315962.1:g.362893TA[5], NW_003315962.1:g.362893TA[7]

Select item 149128698320.

rs1491286983 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 19:21019616 (GRCh38)
19:21202423 (GRCh37)
Canonical SPDI:: NC_000019.10:21019616::G
Gene:: ZNF430 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.00022/3 (GnomAD)
HGVS:: NC_000019.10:g.21019616_21019617insG, NC_000019.9:g.21202422_21202423insG, NW_003315962.1:g.362892_362893insG

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