SNP Links for Gene (Select 116840) - SNP

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Select item 14915546201.

rs1491554620 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ACCA [Show Flanks]
Chromosome:: 17:7949642 (GRCh38)
17:7852961 (GRCh37)
Canonical SPDI:: NC_000017.11:7949642:AACCA:AACCAACCA
Gene:: CNTROB (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: AACCAACCA=0./0 (ALFA)
AACC=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.7949644_7949647dup, NC_000017.10:g.7852962_7852965dup, NG_029754.1:g.22515_22518dup, NM_001037144.7:c.*134_*137dup, NM_001037144.6:c.*134_*137dup, NM_001037144.5:c.*134_*137dup, NM_053051.5:c.*134_*137dup, NM_053051.4:c.*134_*137dup, NM_053051.3:c.*134_*137dup, NM_001330124.3:c.*134_*137dup, NM_001330124.2:c.*134_*137dup, NM_001330124.1:c.*134_*137dup, NM_001353205.2:c.*134_*137dup, NM_001353205.1:c.*134_*137dup, NM_001353204.2:c.*134_*137dup, NM_001353204.1:c.*134_*137dup, NM_001353202.2:c.*210_*213dup, NM_001353202.1:c.*210_*213dup, NM_001353208.2:c.*134_*137dup, NM_001353208.1:c.*134_*137dup, NM_001353203.2:c.*134_*137dup, NM_001353203.1:c.*134_*137dup, NM_001353206.2:c.*134_*137dup, NM_001353206.1:c.*134_*137dup, NM_001353209.1:c.*134_*137dup, NM_001353207.1:c.*134_*137dup, XM_005256438.4:c.*210_*213dup, XM_017024134.3:c.*210_*213dup, XM_017024137.3:c.*134_*137dup, XM_017024135.2:c.*134_*137dup, XM_017024128.2:c.*134_*137dup, XM_017024129.2:c.*134_*137dup, XM_017024138.2:c.*134_*137dup, XM_017024143.2:c.*134_*137dup, XM_047435305.1:c.*160_*163dup, XM_047435302.1:c.*210_*213dup, XM_047435303.1:c.*210_*213dup, XM_047435304.1:c.*210_*213dup

Select item 14913972792.

rs1491397279 has merged into rs377086554 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAA>-,A,AA,AAAA,AAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:7942606 (GRCh38)
17:7845924 (GRCh37)
Canonical SPDI:: NC_000017.11:7942596:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000017.11:7942596:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000017.11:7942596:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:7942596:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:7942596:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:7942596:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:7942596:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:7942596:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:7942596:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:7942596:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:7942596:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:7942596:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:7942596:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:7942596:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:7942596:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:7942596:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:7942596:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:7942596:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CNTROB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
AAAAAAAAAAAAAA=0./0 (GENOME_DK)
HGVS:: NC_000017.11:g.7942606_7942620del, NC_000017.11:g.7942607_7942620del, NC_000017.11:g.7942608_7942620del, NC_000017.11:g.7942610_7942620del, NC_000017.11:g.7942611_7942620del, NC_000017.11:g.7942614_7942620del, NC_000017.11:g.7942615_7942620del, NC_000017.11:g.7942616_7942620del, NC_000017.11:g.7942617_7942620del, NC_000017.11:g.7942618_7942620del, NC_000017.11:g.7942619_7942620del, NC_000017.11:g.7942620del, NC_000017.11:g.7942620dup, NC_000017.11:g.7942619_7942620dup, NC_000017.11:g.7942618_7942620dup, NC_000017.11:g.7942617_7942620dup, NC_000017.11:g.7942616_7942620dup, NC_000017.11:g.7942615_7942620dup, NC_000017.10:g.7845924_7845938del, NC_000017.10:g.7845925_7845938del, NC_000017.10:g.7845926_7845938del, NC_000017.10:g.7845928_7845938del, NC_000017.10:g.7845929_7845938del, NC_000017.10:g.7845932_7845938del, NC_000017.10:g.7845933_7845938del, NC_000017.10:g.7845934_7845938del, NC_000017.10:g.7845935_7845938del, NC_000017.10:g.7845936_7845938del, NC_000017.10:g.7845937_7845938del, NC_000017.10:g.7845938del, NC_000017.10:g.7845938dup, NC_000017.10:g.7845937_7845938dup, NC_000017.10:g.7845936_7845938dup, NC_000017.10:g.7845935_7845938dup, NC_000017.10:g.7845934_7845938dup, NC_000017.10:g.7845933_7845938dup, NG_029754.1:g.15477_15491del, NG_029754.1:g.15478_15491del, NG_029754.1:g.15479_15491del, NG_029754.1:g.15481_15491del, NG_029754.1:g.15482_15491del, NG_029754.1:g.15485_15491del, NG_029754.1:g.15486_15491del, NG_029754.1:g.15487_15491del, NG_029754.1:g.15488_15491del, NG_029754.1:g.15489_15491del, NG_029754.1:g.15490_15491del, NG_029754.1:g.15491del, NG_029754.1:g.15491dup, NG_029754.1:g.15490_15491dup, NG_029754.1:g.15489_15491dup, NG_029754.1:g.15488_15491dup, NG_029754.1:g.15487_15491dup, NG_029754.1:g.15486_15491dup

Select item 14913170353.

rs1491317035 has merged into rs71159534 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 17:7942800 (GRCh38)
17:7846118 (GRCh37)
Canonical SPDI:: NC_000017.11:7942787:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:7942787:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:7942787:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:7942787:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:7942787:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:7942787:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:7942787:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:7942787:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:7942787:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000017.11:7942787:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000017.11:7942787:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:7942787:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:7942787:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:7942787:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:7942787:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:7942787:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:7942787:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:7942787:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:7942787:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:7942787:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:7942787:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:7942787:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:7942787:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:7942787:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:7942787:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:7942787:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:7942787:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:7942787:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:7942787:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:7942787:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:7942787:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:7942787:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:7942787:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:7942787:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:7942787:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:7942787:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:7942787:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:7942787:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: CNTROB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000017.11:g.7942800_7942819del, NC_000017.11:g.7942801_7942819del, NC_000017.11:g.7942802_7942819del, NC_000017.11:g.7942803_7942819del, NC_000017.11:g.7942804_7942819del, NC_000017.11:g.7942805_7942819del, NC_000017.11:g.7942806_7942819del, NC_000017.11:g.7942807_7942819del, NC_000017.11:g.7942808_7942819del, NC_000017.11:g.7942809_7942819del, NC_000017.11:g.7942810_7942819del, NC_000017.11:g.7942811_7942819del, NC_000017.11:g.7942812_7942819del, NC_000017.11:g.7942813_7942819del, NC_000017.11:g.7942814_7942819del, NC_000017.11:g.7942815_7942819del, NC_000017.11:g.7942816_7942819del, NC_000017.11:g.7942817_7942819del, NC_000017.11:g.7942818_7942819del, NC_000017.11:g.7942819del, NC_000017.11:g.7942819dup, NC_000017.11:g.7942818_7942819dup, NC_000017.11:g.7942817_7942819dup, NC_000017.11:g.7942816_7942819dup, NC_000017.11:g.7942815_7942819dup, NC_000017.11:g.7942814_7942819dup, NC_000017.11:g.7942813_7942819dup, NC_000017.11:g.7942812_7942819dup, NC_000017.11:g.7942811_7942819dup, NC_000017.11:g.7942810_7942819dup, NC_000017.11:g.7942809_7942819dup, NC_000017.11:g.7942808_7942819dup, NC_000017.11:g.7942807_7942819dup, NC_000017.11:g.7942806_7942819dup, NC_000017.11:g.7942805_7942819dup, NC_000017.11:g.7942803_7942819dup, NC_000017.11:g.7942788_7942819dup, NC_000017.11:g.7942819_7942820insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.7846118_7846137del, NC_000017.10:g.7846119_7846137del, NC_000017.10:g.7846120_7846137del, NC_000017.10:g.7846121_7846137del, NC_000017.10:g.7846122_7846137del, NC_000017.10:g.7846123_7846137del, NC_000017.10:g.7846124_7846137del, NC_000017.10:g.7846125_7846137del, NC_000017.10:g.7846126_7846137del, NC_000017.10:g.7846127_7846137del, NC_000017.10:g.7846128_7846137del, NC_000017.10:g.7846129_7846137del, NC_000017.10:g.7846130_7846137del, NC_000017.10:g.7846131_7846137del, NC_000017.10:g.7846132_7846137del, NC_000017.10:g.7846133_7846137del, NC_000017.10:g.7846134_7846137del, NC_000017.10:g.7846135_7846137del, NC_000017.10:g.7846136_7846137del, NC_000017.10:g.7846137del, NC_000017.10:g.7846137dup, NC_000017.10:g.7846136_7846137dup, NC_000017.10:g.7846135_7846137dup, NC_000017.10:g.7846134_7846137dup, NC_000017.10:g.7846133_7846137dup, NC_000017.10:g.7846132_7846137dup, NC_000017.10:g.7846131_7846137dup, NC_000017.10:g.7846130_7846137dup, NC_000017.10:g.7846129_7846137dup, NC_000017.10:g.7846128_7846137dup, NC_000017.10:g.7846127_7846137dup, NC_000017.10:g.7846126_7846137dup, NC_000017.10:g.7846125_7846137dup, NC_000017.10:g.7846124_7846137dup, NC_000017.10:g.7846123_7846137dup, NC_000017.10:g.7846121_7846137dup, NC_000017.10:g.7846106_7846137dup, NC_000017.10:g.7846137_7846138insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_029754.1:g.15671_15690del, NG_029754.1:g.15672_15690del, NG_029754.1:g.15673_15690del, NG_029754.1:g.15674_15690del, NG_029754.1:g.15675_15690del, NG_029754.1:g.15676_15690del, NG_029754.1:g.15677_15690del, NG_029754.1:g.15678_15690del, NG_029754.1:g.15679_15690del, NG_029754.1:g.15680_15690del, NG_029754.1:g.15681_15690del, NG_029754.1:g.15682_15690del, NG_029754.1:g.15683_15690del, NG_029754.1:g.15684_15690del, NG_029754.1:g.15685_15690del, NG_029754.1:g.15686_15690del, NG_029754.1:g.15687_15690del, NG_029754.1:g.15688_15690del, NG_029754.1:g.15689_15690del, NG_029754.1:g.15690del, NG_029754.1:g.15690dup, NG_029754.1:g.15689_15690dup, NG_029754.1:g.15688_15690dup, NG_029754.1:g.15687_15690dup, NG_029754.1:g.15686_15690dup, NG_029754.1:g.15685_15690dup, NG_029754.1:g.15684_15690dup, NG_029754.1:g.15683_15690dup, NG_029754.1:g.15682_15690dup, NG_029754.1:g.15681_15690dup, NG_029754.1:g.15680_15690dup, NG_029754.1:g.15679_15690dup, NG_029754.1:g.15678_15690dup, NG_029754.1:g.15677_15690dup, NG_029754.1:g.15676_15690dup, NG_029754.1:g.15674_15690dup, NG_029754.1:g.15659_15690dup, NG_029754.1:g.15690_15691insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14911376814.

rs1491137681 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 17:7942596 (GRCh38)
17:7845914 (GRCh37)
Canonical SPDI:: NC_000017.11:7942595:CA:
Gene:: CNTROB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000017.11:g.7942596_7942597del, NC_000017.10:g.7845914_7845915del, NG_029754.1:g.15467_15468del

Select item 14911095875.

rs1491109587 [Homo sapiens]

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

Select item 14910746076.

rs1491074607 has merged into rs34778352 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAA>-,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:7941609 (GRCh38)
17:7844927 (GRCh37)
Canonical SPDI:: NC_000017.11:7941598:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000017.11:7941598:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:7941598:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:7941598:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:7941598:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:7941598:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:7941598:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:7941598:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:7941598:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:7941598:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:7941598:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CNTROB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
A=0.2909/1457 (1000Genomes)
HGVS:: NC_000017.11:g.7941609_7941617del, NC_000017.11:g.7941614_7941617del, NC_000017.11:g.7941615_7941617del, NC_000017.11:g.7941616_7941617del, NC_000017.11:g.7941617del, NC_000017.11:g.7941617dup, NC_000017.11:g.7941616_7941617dup, NC_000017.11:g.7941615_7941617dup, NC_000017.11:g.7941614_7941617dup, NC_000017.11:g.7941609_7941617dup, NC_000017.11:g.7941608_7941617dup, NC_000017.10:g.7844927_7844935del, NC_000017.10:g.7844932_7844935del, NC_000017.10:g.7844933_7844935del, NC_000017.10:g.7844934_7844935del, NC_000017.10:g.7844935del, NC_000017.10:g.7844935dup, NC_000017.10:g.7844934_7844935dup, NC_000017.10:g.7844933_7844935dup, NC_000017.10:g.7844932_7844935dup, NC_000017.10:g.7844927_7844935dup, NC_000017.10:g.7844926_7844935dup, NG_029754.1:g.14480_14488del, NG_029754.1:g.14485_14488del, NG_029754.1:g.14486_14488del, NG_029754.1:g.14487_14488del, NG_029754.1:g.14488del, NG_029754.1:g.14488dup, NG_029754.1:g.14487_14488dup, NG_029754.1:g.14486_14488dup, NG_029754.1:g.14485_14488dup, NG_029754.1:g.14480_14488dup, NG_029754.1:g.14479_14488dup

Select item 14909944097.

rs1490994409 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:7930528 (GRCh38)
17:7833846 (GRCh37)
Canonical SPDI:: NC_000017.11:7930527:G:A
Gene:: KCNAB3 (Varview), TRAPPC1 (Varview), CNTROB (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.7930528G>A, NC_000017.10:g.7833846G>A, NG_029754.1:g.3405G>A, NM_021210.5:c.*78C>T, NM_021210.4:c.*78C>T, NR_030684.2:n.562C>T, NR_030684.1:n.565C>T, NM_001166621.1:c.*78C>T, NR_030697.1:n.505C>T

Select item 14906868188.

rs1490686818 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:7930912 (GRCh38)
17:7834230 (GRCh37)
Canonical SPDI:: NC_000017.11:7930911:G:A
Gene:: KCNAB3 (Varview), TRAPPC1 (Varview), CNTROB (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.7930912G>A, NC_000017.10:g.7834230G>A, NG_029754.1:g.3789G>A

Select item 14904859319.

rs1490485931 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:7931816 (GRCh38)
17:7835134 (GRCh37)
Canonical SPDI:: NC_000017.11:7931815:T:G
Gene:: KCNAB3 (Varview), TRAPPC1 (Varview), CNTROB (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,non_coding_transcript_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.7931816T>G, NC_000017.10:g.7835134T>G, NG_029754.1:g.4693T>G, NM_021210.5:c.14A>C, NM_021210.4:c.14A>C, NR_030684.2:n.131A>C, NR_030684.1:n.134A>C, NM_001166621.1:c.14A>C, NR_030697.1:n.74A>C, NP_067033.1:p.Asn5Thr, NP_001160093.1:p.Asn5Thr

Select item 149039771510.

rs1490397715 has merged into rs374816445 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACAG>- [Show Flanks]
Chromosome:: 17:7950174 (GRCh38)
17:7853492 (GRCh37)
Canonical SPDI:: NC_000017.11:7950169:ACAGACAG:ACAG
Gene:: CNTROB (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACAGACAG=0.000071/1 (ALFA)
-=0.00003/8 (TOPMED)
-=0.000035/1 (TOMMO)
-=0.00005/7 (GnomAD)
HGVS:: NC_000017.11:g.7950170ACAG[1], NC_000017.10:g.7853488ACAG[1], NG_029754.1:g.23041ACAG[1]

Select item 149029386311.

rs1490293863 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 17:7938067 (GRCh38)
17:7841385 (GRCh37)
Canonical SPDI:: NC_000017.11:7938066:A:C,NC_000017.11:7938066:A:G
Gene:: CNTROB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.7938067A>C, NC_000017.11:g.7938067A>G, NC_000017.10:g.7841385A>C, NC_000017.10:g.7841385A>G, NG_029754.1:g.10938A>C, NG_029754.1:g.10938A>G

Select item 148972978312.

rs1489729783 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 17:7945923 (GRCh38)
17:7849241 (GRCh37)
Canonical SPDI:: NC_000017.11:7945922:T:A
Gene:: CNTROB (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000017.11:g.7945923T>A, NC_000017.10:g.7849241T>A, NG_029754.1:g.18794T>A, NM_001037144.7:c.1930T>A, NM_001037144.6:c.1930T>A, NM_001037144.5:c.1930T>A, NM_053051.5:c.1930T>A, NM_053051.4:c.1930T>A, NM_053051.3:c.1930T>A, NM_001330124.3:c.1930T>A, NM_001330124.2:c.1930T>A, NM_001330124.1:c.1930T>A, NM_001353205.2:c.1663T>A, NM_001353205.1:c.1663T>A, NM_001353204.2:c.1372T>A, NM_001353204.1:c.1372T>A, NM_001353202.2:c.1930T>A, NM_001353202.1:c.1930T>A, NM_001353208.2:c.1930T>A, NM_001353208.1:c.1930T>A, NM_001353203.2:c.1930T>A, NM_001353203.1:c.1930T>A, NM_001353206.2:c.1930T>A, NM_001353206.1:c.1930T>A, NM_001353209.1:c.1930T>A, NM_001353207.1:c.1930T>A, XM_005256438.4:c.1930T>A, XM_005256438.3:c.1930T>A, XM_005256438.2:c.1930T>A, XM_005256438.1:c.1930T>A, XM_017024134.3:c.1930T>A, XM_017024134.2:c.1930T>A, XM_017024134.1:c.1930T>A, XM_017024137.3:c.1663T>A, XM_017024137.2:c.1663T>A, XM_017024137.1:c.1663T>A, XM_017024135.2:c.1663T>A, XM_017024135.1:c.1663T>A, XM_017024128.2:c.1930T>A, XM_017024128.1:c.1930T>A, XM_017024129.2:c.1930T>A, XM_017024129.1:c.1930T>A, XM_017024141.2:c.1930T>A, XM_017024141.1:c.1930T>A, XM_017024138.2:c.1372T>A, XM_017024138.1:c.1372T>A, XM_017024143.2:c.1066T>A, XM_017024143.1:c.1066T>A, XM_047435305.1:c.1930T>A, XM_047435302.1:c.1930T>A, XM_047435303.1:c.1930T>A, XM_047435304.1:c.1930T>A, NP_001032221.1:p.Ser644Thr, NP_444279.2:p.Ser644Thr, NP_001317053.1:p.Ser644Thr, NP_001340134.1:p.Ser555Thr, NP_001340133.1:p.Ser458Thr, NP_001340131.1:p.Ser644Thr, NP_001340137.1:p.Ser644Thr, NP_001340132.1:p.Ser644Thr, NP_001340135.1:p.Ser644Thr, NP_001340138.1:p.Ser644Thr, NP_001340136.1:p.Ser644Thr, XP_005256495.1:p.Ser644Thr, XP_016879623.1:p.Ser644Thr, XP_016879626.1:p.Ser555Thr, XP_016879624.1:p.Ser555Thr, XP_016879617.1:p.Ser644Thr, XP_016879618.1:p.Ser644Thr, XP_016879630.1:p.Ser644Thr, XP_016879627.1:p.Ser458Thr, XP_016879632.1:p.Ser356Thr, XP_047291261.1:p.Ser644Thr, XP_047291258.1:p.Ser644Thr, XP_047291259.1:p.Ser644Thr, XP_047291260.1:p.Ser644Thr

Select item 148969922513.

rs1489699225 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:7946002 (GRCh38)
17:7849320 (GRCh37)
Canonical SPDI:: NC_000017.11:7946001:A:G
Gene:: CNTROB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.7946002A>G, NC_000017.10:g.7849320A>G, NG_029754.1:g.18873A>G

Select item 148964539314.

rs1489645393 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:7935659 (GRCh38)
17:7838977 (GRCh37)
Canonical SPDI:: NC_000017.11:7935658:C:T
Gene:: CNTROB (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000064/9 (GnomAD)
T=0.000071/1 (TOMMO)
HGVS:: NC_000017.11:g.7935659C>T, NC_000017.10:g.7838977C>T, NG_029754.1:g.8530C>T

Select item 148960817115.

rs1489608171 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:7948519 (GRCh38)
17:7851837 (GRCh37)
Canonical SPDI:: NC_000017.11:7948518:A:G
Gene:: CNTROB (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.7948519A>G, NC_000017.10:g.7851837A>G, NG_029754.1:g.21390A>G, NM_001037144.7:c.2413A>G, NM_001037144.6:c.2413A>G, NM_001037144.5:c.2413A>G, NM_053051.5:c.2413A>G, NM_053051.4:c.2413A>G, NM_053051.3:c.2413A>G, NM_001330124.3:c.2413A>G, NM_001330124.2:c.2413A>G, NM_001330124.1:c.2413A>G, NM_001353205.2:c.2146A>G, NM_001353205.1:c.2146A>G, NM_001353204.2:c.1855A>G, NM_001353204.1:c.1855A>G, NM_001353202.2:c.2413A>G, NM_001353202.1:c.2413A>G, NM_001353208.2:c.2413A>G, NM_001353208.1:c.2413A>G, NM_001353203.2:c.2413A>G, NM_001353203.1:c.2413A>G, NM_001353206.2:c.2413A>G, NM_001353206.1:c.2413A>G, NM_001353209.1:c.2413A>G, NM_001353207.1:c.2413A>G, XM_005256438.4:c.2413A>G, XM_005256438.3:c.2413A>G, XM_005256438.2:c.2413A>G, XM_005256438.1:c.2413A>G, XM_017024134.3:c.2413A>G, XM_017024134.2:c.2413A>G, XM_017024134.1:c.2413A>G, XM_017024137.3:c.2146A>G, XM_017024137.2:c.2146A>G, XM_017024137.1:c.2146A>G, XM_017024135.2:c.2146A>G, XM_017024135.1:c.2146A>G, XM_017024128.2:c.2413A>G, XM_017024128.1:c.2413A>G, XM_017024129.2:c.2413A>G, XM_017024129.1:c.2413A>G, XM_017024138.2:c.1855A>G, XM_017024138.1:c.1855A>G, XM_017024143.2:c.1549A>G, XM_017024143.1:c.1549A>G, XM_047435305.1:c.2413A>G, XM_047435302.1:c.2413A>G, XM_047435303.1:c.2413A>G, XM_047435304.1:c.2413A>G, NP_001032221.1:p.Met805Val, NP_444279.2:p.Met805Val, NP_001317053.1:p.Met805Val, NP_001340134.1:p.Met716Val, NP_001340133.1:p.Met619Val, NP_001340131.1:p.Met805Val, NP_001340137.1:p.Met805Val, NP_001340132.1:p.Met805Val, NP_001340135.1:p.Met805Val, NP_001340138.1:p.Met805Val, NP_001340136.1:p.Met805Val, XP_005256495.1:p.Met805Val, XP_016879623.1:p.Met805Val, XP_016879626.1:p.Met716Val, XP_016879624.1:p.Met716Val, XP_016879617.1:p.Met805Val, XP_016879618.1:p.Met805Val, XP_016879627.1:p.Met619Val, XP_016879632.1:p.Met517Val, XP_047291261.1:p.Met805Val, XP_047291258.1:p.Met805Val, XP_047291259.1:p.Met805Val, XP_047291260.1:p.Met805Val

Select item 148908496616.

rs1489084966 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:7935387 (GRCh38)
17:7838705 (GRCh37)
Canonical SPDI:: NC_000017.11:7935386:A:C
Gene:: CNTROB (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.7935387A>C, NC_000017.10:g.7838705A>C, NG_029754.1:g.8258A>C

Select item 148901206517.

rs1489012065 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:7938481 (GRCh38)
17:7841799 (GRCh37)
Canonical SPDI:: NC_000017.11:7938480:T:C
Gene:: CNTROB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000017.11:g.7938481T>C, NC_000017.10:g.7841799T>C, NG_029754.1:g.11352T>C

Select item 148898185318.

rs1488981853 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:7935727 (GRCh38)
17:7839045 (GRCh37)
Canonical SPDI:: NC_000017.11:7935726:T:C
Gene:: CNTROB (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000017.11:g.7935727T>C, NC_000017.10:g.7839045T>C, NG_029754.1:g.8598T>C

Select item 148896474119.

rs1488964741 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:7932044 (GRCh38)
17:7835362 (GRCh37)
Canonical SPDI:: NC_000017.11:7932043:A:C
Gene:: TRAPPC1 (Varview), CNTROB (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000017.11:g.7932044A>C, NC_000017.10:g.7835362A>C, NG_029754.1:g.4921A>C

Select item 148896246520.

rs1488962465 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 17:7935468 (GRCh38)
17:7838786 (GRCh37)
Canonical SPDI:: NC_000017.11:7935467:C:
Gene:: CNTROB (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.7935468del, NC_000017.10:g.7838786del, NG_029754.1:g.8339del

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