SNP Links for Nucleotide (Select 700585325) - SNP

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Select item 14915472741.

rs1491547274 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTCC [Show Flanks]
Chromosome:: 12:89526086 (GRCh38)
12:89919864 (GRCh37)
Canonical SPDI:: NC_000012.12:89526086:C:CGTCC
Gene:: GALNT4 (Varview), POC1B (Varview), POC1B-GALNT4 (Varview), POC1B-AS1 (Varview)
Functional Consequence:: intron_variant,frameshift_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
HGVS:: NC_000012.12:g.89526087_89526088insGTCC, NC_000012.11:g.89919864_89919865insGTCC, NG_041783.1:g.5176_5177insGACG, NG_054725.1:g.5176_5177insGACG, NM_001199782.1:c.69_70insGACG, NG_050753.1:g.3720_3721insGACG, NM_172240.2:c.-192_-191insGACG, NM_001199781.1:c.-192_-191insGACG, NR_037659.1:n.176_177insGACG, NP_001186711.1:p.Ser24fs

Select item 14915105292.

rs1491510529 has merged into rs1163868772 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 12:89473677 (GRCh38)
12:89867454 (GRCh37)
Canonical SPDI:: NC_000012.12:89473666:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000012.12:89473666:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000012.12:89473666:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:89473666:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:89473666:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:89473666:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000012.12:89473666:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000012.12:89473666:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000012.12:89473666:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000012.12:89473666:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:89473666:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:89473666:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:89473666:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:89473666:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:89473666:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:89473666:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:89473666:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:89473666:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:89473666:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:89473666:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: POC1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
-=0.125/1 (KOREAN)
HGVS:: NC_000012.12:g.89473677_89473686del, NC_000012.12:g.89473678_89473686del, NC_000012.12:g.89473680_89473686del, NC_000012.12:g.89473681_89473686del, NC_000012.12:g.89473682_89473686del, NC_000012.12:g.89473684_89473686del, NC_000012.12:g.89473685_89473686del, NC_000012.12:g.89473686del, NC_000012.12:g.89473686dup, NC_000012.12:g.89473685_89473686dup, NC_000012.12:g.89473684_89473686dup, NC_000012.12:g.89473683_89473686dup, NC_000012.12:g.89473682_89473686dup, NC_000012.12:g.89473681_89473686dup, NC_000012.12:g.89473680_89473686dup, NC_000012.12:g.89473679_89473686dup, NC_000012.12:g.89473671_89473686dup, NC_000012.12:g.89473686_89473687insAAAAAAAAAAAAAAAAAAAAA, NC_000012.12:g.89473686_89473687insAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.12:g.89473686_89473687insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.89867454_89867463del, NC_000012.11:g.89867455_89867463del, NC_000012.11:g.89867457_89867463del, NC_000012.11:g.89867458_89867463del, NC_000012.11:g.89867459_89867463del, NC_000012.11:g.89867461_89867463del, NC_000012.11:g.89867462_89867463del, NC_000012.11:g.89867463del, NC_000012.11:g.89867463dup, NC_000012.11:g.89867462_89867463dup, NC_000012.11:g.89867461_89867463dup, NC_000012.11:g.89867460_89867463dup, NC_000012.11:g.89867459_89867463dup, NC_000012.11:g.89867458_89867463dup, NC_000012.11:g.89867457_89867463dup, NC_000012.11:g.89867456_89867463dup, NC_000012.11:g.89867448_89867463dup, NC_000012.11:g.89867463_89867464insAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.89867463_89867464insAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.89867463_89867464insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_041783.1:g.57587_57596del, NG_041783.1:g.57588_57596del, NG_041783.1:g.57590_57596del, NG_041783.1:g.57591_57596del, NG_041783.1:g.57592_57596del, NG_041783.1:g.57594_57596del, NG_041783.1:g.57595_57596del, NG_041783.1:g.57596del, NG_041783.1:g.57596dup, NG_041783.1:g.57595_57596dup, NG_041783.1:g.57594_57596dup, NG_041783.1:g.57593_57596dup, NG_041783.1:g.57592_57596dup, NG_041783.1:g.57591_57596dup, NG_041783.1:g.57590_57596dup, NG_041783.1:g.57589_57596dup, NG_041783.1:g.57581_57596dup, NG_041783.1:g.57596_57597insTTTTTTTTTTTTTTTTTTTTT, NG_041783.1:g.57596_57597insTTTTTTTTTTTTTTTTTTTTTTT, NG_041783.1:g.57596_57597insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14915089993.

rs1491508999 has merged into rs972058107 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 12:89475922 (GRCh38)
12:89869699 (GRCh37)
Canonical SPDI:: NC_000012.12:89475910:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000012.12:89475910:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:89475910:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:89475910:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:89475910:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000012.12:89475910:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:89475910:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:89475910:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000012.12:89475910:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000012.12:89475910:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000012.12:89475910:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000012.12:89475910:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:89475910:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:89475910:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:89475910:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:89475910:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:89475910:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:89475910:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:89475910:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:89475910:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:89475910:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:89475910:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:89475910:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:89475910:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:89475910:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:89475910:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:89475910:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:89475910:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:89475910:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:89475910:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:89475910:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:89475910:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:89475910:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:89475910:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: POC1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000012.12:g.89475922_89475934del, NC_000012.12:g.89475923_89475934del, NC_000012.12:g.89475924_89475934del, NC_000012.12:g.89475925_89475934del, NC_000012.12:g.89475926_89475934del, NC_000012.12:g.89475927_89475934del, NC_000012.12:g.89475928_89475934del, NC_000012.12:g.89475929_89475934del, NC_000012.12:g.89475930_89475934del, NC_000012.12:g.89475931_89475934del, NC_000012.12:g.89475932_89475934del, NC_000012.12:g.89475933_89475934del, NC_000012.12:g.89475934del, NC_000012.12:g.89475934dup, NC_000012.12:g.89475933_89475934dup, NC_000012.12:g.89475932_89475934dup, NC_000012.12:g.89475931_89475934dup, NC_000012.12:g.89475930_89475934dup, NC_000012.12:g.89475929_89475934dup, NC_000012.12:g.89475928_89475934dup, NC_000012.12:g.89475927_89475934dup, NC_000012.12:g.89475926_89475934dup, NC_000012.12:g.89475925_89475934dup, NC_000012.12:g.89475924_89475934dup, NC_000012.12:g.89475923_89475934dup, NC_000012.12:g.89475921_89475934dup, NC_000012.12:g.89475919_89475934dup, NC_000012.12:g.89475911_89475934T[40]CTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000012.12:g.89475917_89475934dup, NC_000012.12:g.89475916_89475934dup, NC_000012.12:g.89475914_89475934dup, NC_000012.12:g.89475913_89475934dup, NC_000012.12:g.89475934_89475935insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.89475934_89475935insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.89869699_89869711del, NC_000012.11:g.89869700_89869711del, NC_000012.11:g.89869701_89869711del, NC_000012.11:g.89869702_89869711del, NC_000012.11:g.89869703_89869711del, NC_000012.11:g.89869704_89869711del, NC_000012.11:g.89869705_89869711del, NC_000012.11:g.89869706_89869711del, NC_000012.11:g.89869707_89869711del, NC_000012.11:g.89869708_89869711del, NC_000012.11:g.89869709_89869711del, NC_000012.11:g.89869710_89869711del, NC_000012.11:g.89869711del, NC_000012.11:g.89869711dup, NC_000012.11:g.89869710_89869711dup, NC_000012.11:g.89869709_89869711dup, NC_000012.11:g.89869708_89869711dup, NC_000012.11:g.89869707_89869711dup, NC_000012.11:g.89869706_89869711dup, NC_000012.11:g.89869705_89869711dup, NC_000012.11:g.89869704_89869711dup, NC_000012.11:g.89869703_89869711dup, NC_000012.11:g.89869702_89869711dup, NC_000012.11:g.89869701_89869711dup, NC_000012.11:g.89869700_89869711dup, NC_000012.11:g.89869698_89869711dup, NC_000012.11:g.89869696_89869711dup, NC_000012.11:g.89869688_89869711T[40]CTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000012.11:g.89869694_89869711dup, NC_000012.11:g.89869693_89869711dup, NC_000012.11:g.89869691_89869711dup, NC_000012.11:g.89869690_89869711dup, NC_000012.11:g.89869711_89869712insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.89869711_89869712insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_041783.1:g.55340_55352del, NG_041783.1:g.55341_55352del, NG_041783.1:g.55342_55352del, NG_041783.1:g.55343_55352del, NG_041783.1:g.55344_55352del, NG_041783.1:g.55345_55352del, NG_041783.1:g.55346_55352del, NG_041783.1:g.55347_55352del, NG_041783.1:g.55348_55352del, NG_041783.1:g.55349_55352del, NG_041783.1:g.55350_55352del, NG_041783.1:g.55351_55352del, NG_041783.1:g.55352del, NG_041783.1:g.55352dup, NG_041783.1:g.55351_55352dup, NG_041783.1:g.55350_55352dup, NG_041783.1:g.55349_55352dup, NG_041783.1:g.55348_55352dup, NG_041783.1:g.55347_55352dup, NG_041783.1:g.55346_55352dup, NG_041783.1:g.55345_55352dup, NG_041783.1:g.55344_55352dup, NG_041783.1:g.55343_55352dup, NG_041783.1:g.55342_55352dup, NG_041783.1:g.55341_55352dup, NG_041783.1:g.55339_55352dup, NG_041783.1:g.55337_55352dup, NG_041783.1:g.55329_55352A[27]TAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_041783.1:g.55335_55352dup, NG_041783.1:g.55334_55352dup, NG_041783.1:g.55332_55352dup, NG_041783.1:g.55331_55352dup, NG_041783.1:g.55352_55353insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_041783.1:g.55352_55353insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14914807894.

rs1491480789 has merged into rs145187641 [Homo sapiens]

Variant type:: DELINS
Alleles:: AC>-,ACAC,ACACAC,ACACACAC [Show Flanks]
Chromosome:: 12:89463443 (GRCh38)
12:89857220 (GRCh37)
Canonical SPDI:: NC_000012.12:89463427:CACACACACACACACAC:CACACACACACACAC,NC_000012.12:89463427:CACACACACACACACAC:CACACACACACACACACAC,NC_000012.12:89463427:CACACACACACACACAC:CACACACACACACACACACAC,NC_000012.12:89463427:CACACACACACACACAC:CACACACACACACACACACACAC
Gene:: POC1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACACACACACACACACACAC=0./0 (ALFA)
CA=0.175/7 (GENOME_DK)
CA=0.17833/107 (NorthernSweden)
CA=0.19585/877 (Estonian)
CA=0.23938/4012 (TOMMO)
CA=0.24181/1211 (1000Genomes)
HGVS:: NC_000012.12:g.89463429AC[7], NC_000012.12:g.89463429AC[9], NC_000012.12:g.89463429AC[10], NC_000012.12:g.89463429AC[11], NC_000012.11:g.89857206AC[7], NC_000012.11:g.89857206AC[9], NC_000012.11:g.89857206AC[10], NC_000012.11:g.89857206AC[11], NG_041783.1:g.67820TG[7], NG_041783.1:g.67820TG[9], NG_041783.1:g.67820TG[10], NG_041783.1:g.67820TG[11]

Select item 14914122195.

rs1491412219 has merged into rs373564620 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGA>-,GA,GAGAGA,GAGAGAGA [Show Flanks]
Chromosome:: 12:89448003 (GRCh38)
12:89841780 (GRCh37)
Canonical SPDI:: NC_000012.12:89447987:AGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGA,NC_000012.12:89447987:AGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGA,NC_000012.12:89447987:AGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGA,NC_000012.12:89447987:AGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGA
Gene:: POC1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGAGAGAGAGAGAGA=0./0 (ALFA)
AG=0.00018/3 (TOMMO)
AG=0.005/3 (NorthernSweden)
-=0.02004/20 (GoNL)
HGVS:: NC_000012.12:g.89447989GA[7], NC_000012.12:g.89447989GA[8], NC_000012.12:g.89447989GA[10], NC_000012.12:g.89447989GA[11], NC_000012.11:g.89841766GA[7], NC_000012.11:g.89841766GA[8], NC_000012.11:g.89841766GA[10], NC_000012.11:g.89841766GA[11], NG_041783.1:g.83258CT[7], NG_041783.1:g.83258CT[8], NG_041783.1:g.83258CT[10], NG_041783.1:g.83258CT[11]

Select item 14914105696.

rs1491410569 has merged into rs373564620 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGA>-,GA,GAGAGA,GAGAGAGA [Show Flanks]
Chromosome:: 12:89448003 (GRCh38)
12:89841780 (GRCh37)
Canonical SPDI:: NC_000012.12:89447987:AGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGA,NC_000012.12:89447987:AGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGA,NC_000012.12:89447987:AGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGA,NC_000012.12:89447987:AGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGA
Gene:: POC1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGAGAGAGAGAGAGA=0./0 (ALFA)
AG=0.00018/3 (TOMMO)
AG=0.005/3 (NorthernSweden)
-=0.02004/20 (GoNL)
HGVS:: NC_000012.12:g.89447989GA[7], NC_000012.12:g.89447989GA[8], NC_000012.12:g.89447989GA[10], NC_000012.12:g.89447989GA[11], NC_000012.11:g.89841766GA[7], NC_000012.11:g.89841766GA[8], NC_000012.11:g.89841766GA[10], NC_000012.11:g.89841766GA[11], NG_041783.1:g.83258CT[7], NG_041783.1:g.83258CT[8], NG_041783.1:g.83258CT[10], NG_041783.1:g.83258CT[11]

Select item 14914092387.

rs1491409238 [Homo sapiens]

Variant type:: DELINS
Alleles:: AC>- [Show Flanks]
Chromosome:: 12:89526088 (GRCh38)
12:89919865 (GRCh37)
Canonical SPDI:: NC_000012.12:89526085:ACAC:AC
Gene:: GALNT4 (Varview), POC1B (Varview), POC1B-GALNT4 (Varview), POC1B-AS1 (Varview)
Functional Consequence:: intron_variant,frameshift_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
HGVS:: NC_000012.12:g.89526086AC[1], NC_000012.11:g.89919863AC[1], NG_041783.1:g.5174GT[1], NG_054725.1:g.5174GT[1], NM_001199782.1:c.69_70del, NG_050753.1:g.3718GT[1], NM_172240.2:c.-194GT[1], NM_001199781.1:c.-194GT[1], NR_037659.1:n.174GT[1], NP_001186711.1:p.Arg25fs

Select item 14913115178.

rs1491311517 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,AA,AAA [Show Flanks]
Chromosome:: 12:89459609 (GRCh38)
12:89853387 (GRCh37)
Canonical SPDI:: NC_000012.12:89459609::A,NC_000012.12:89459609::AA,NC_000012.12:89459609::AAA
Gene:: POC1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.00842/515 (GnomAD)
HGVS:: NC_000012.12:g.89459609_89459610insA, NC_000012.12:g.89459609_89459610insAA, NC_000012.12:g.89459609_89459610insAAA, NC_000012.11:g.89853386_89853387insA, NC_000012.11:g.89853386_89853387insAA, NC_000012.11:g.89853386_89853387insAAA, NG_041783.1:g.71653_71654insT, NG_041783.1:g.71653_71654insTT, NG_041783.1:g.71653_71654insTTT

Select item 14912135939.

rs1491213593 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CCCCACCTCCAACCC [Show Flanks]
Chromosome:: 12:89525854 (GRCh38)
12:89919632 (GRCh37)
Canonical SPDI:: NC_000012.12:89525854:CCCCCCCACCTCCAACCC:CCCCCCCACCTCCAACCCCCCCACCTCCAACCC
Gene:: GALNT4 (Varview), POC1B (Varview), POC1B-GALNT4 (Varview), POC1B-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCACCTCCAACCCCCCCACCTCCAACCC=0./0 (ALFA)
CCCCCCCACCTCCAA=0.00001/1 (GnomAD)
HGVS:: NC_000012.12:g.89525858_89525872dup, NC_000012.11:g.89919635_89919649dup, NG_041783.1:g.5394_5408dup, NG_054725.1:g.5394_5408dup, NG_050753.1:g.3938_3952dup

Select item 149119883210.

rs1491198832 [Homo sapiens]

Variant type:: DEL
Alleles:: TC>- [Show Flanks]
Chromosome:: 12:89459609 (GRCh38)
12:89853386 (GRCh37)
Canonical SPDI:: NC_000012.12:89459608:TC:
Gene:: POC1B (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000012.12:g.89459609_89459610del, NC_000012.11:g.89853386_89853387del, NG_041783.1:g.71653_71654del

Select item 149118648111.

rs1491186481 [Homo sapiens]

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

Select item 149116333312.

rs1491163333 has merged into rs60802036 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT [Show Flanks]
Chromosome:: 12:89529043 (GRCh38)
12:89922820 (GRCh37)
Canonical SPDI:: NC_000012.12:89529031:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000012.12:89529031:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:89529031:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:89529031:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:89529031:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000012.12:89529031:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:89529031:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:89529031:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000012.12:89529031:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000012.12:89529031:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT
Gene:: POC1B-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000012.12:g.89529043_89529049del, NC_000012.12:g.89529044_89529049del, NC_000012.12:g.89529045_89529049del, NC_000012.12:g.89529046_89529049del, NC_000012.12:g.89529047_89529049del, NC_000012.12:g.89529048_89529049del, NC_000012.12:g.89529049del, NC_000012.12:g.89529049dup, NC_000012.12:g.89529048_89529049dup, NC_000012.12:g.89529047_89529049dup, NC_000012.11:g.89922820_89922826del, NC_000012.11:g.89922821_89922826del, NC_000012.11:g.89922822_89922826del, NC_000012.11:g.89922823_89922826del, NC_000012.11:g.89922824_89922826del, NC_000012.11:g.89922825_89922826del, NC_000012.11:g.89922826del, NC_000012.11:g.89922826dup, NC_000012.11:g.89922825_89922826dup, NC_000012.11:g.89922824_89922826dup, NG_041783.1:g.2225_2231del, NG_041783.1:g.2226_2231del, NG_041783.1:g.2227_2231del, NG_041783.1:g.2228_2231del, NG_041783.1:g.2229_2231del, NG_041783.1:g.2230_2231del, NG_041783.1:g.2231del, NG_041783.1:g.2231dup, NG_041783.1:g.2230_2231dup, NG_041783.1:g.2229_2231dup, NG_054725.1:g.2225_2231del, NG_054725.1:g.2226_2231del, NG_054725.1:g.2227_2231del, NG_054725.1:g.2228_2231del, NG_054725.1:g.2229_2231del, NG_054725.1:g.2230_2231del, NG_054725.1:g.2231del, NG_054725.1:g.2231dup, NG_054725.1:g.2230_2231dup, NG_054725.1:g.2229_2231dup, NG_050753.1:g.769_775del, NG_050753.1:g.770_775del, NG_050753.1:g.771_775del, NG_050753.1:g.772_775del, NG_050753.1:g.773_775del, NG_050753.1:g.774_775del, NG_050753.1:g.775del, NG_050753.1:g.775dup, NG_050753.1:g.774_775dup, NG_050753.1:g.773_775dup

Select item 149112840013.

rs1491128400 [Homo sapiens]

Variant type:: DEL
Alleles:: AC>- [Show Flanks]
Chromosome:: 12:89525853 (GRCh38)
12:89919630 (GRCh37)
Canonical SPDI:: NC_000012.12:89525852:AC:
Gene:: GALNT4 (Varview), POC1B (Varview), POC1B-GALNT4 (Varview), POC1B-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00008/1 (ALFA)
-=0.18059/696 (ALSPAC)
-=0.2028/752 (TWINSUK)
HGVS:: NC_000012.12:g.89525853_89525854del, NC_000012.11:g.89919630_89919631del, NG_041783.1:g.5409_5410del, NG_054725.1:g.5409_5410del, NG_050753.1:g.3953_3954del

Select item 149110888214.

rs1491108882 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 12:89459610 (GRCh38)
12:89853387 (GRCh37)
Canonical SPDI:: NC_000012.12:89459609:CA:
Gene:: POC1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: -=0.00001/1 (ExAC)
HGVS:: NC_000012.12:g.89459610_89459611del, NC_000012.11:g.89853387_89853388del, NG_041783.1:g.71652_71653del

Select item 149107516115.

rs1491075161 has merged into rs75294490 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA [Show Flanks]
Chromosome:: 12:89464815 (GRCh38)
12:89858592 (GRCh37)
Canonical SPDI:: NC_000012.12:89464802:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:89464802:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:89464802:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:89464802:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:89464802:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000012.12:89464802:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000012.12:89464802:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
Gene:: POC1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000012.12:g.89464815_89464818del, NC_000012.12:g.89464816_89464818del, NC_000012.12:g.89464817_89464818del, NC_000012.12:g.89464818del, NC_000012.12:g.89464818dup, NC_000012.12:g.89464817_89464818dup, NC_000012.12:g.89464816_89464818dup, NC_000012.11:g.89858592_89858595del, NC_000012.11:g.89858593_89858595del, NC_000012.11:g.89858594_89858595del, NC_000012.11:g.89858595del, NC_000012.11:g.89858595dup, NC_000012.11:g.89858594_89858595dup, NC_000012.11:g.89858593_89858595dup, NG_041783.1:g.66457_66460del, NG_041783.1:g.66458_66460del, NG_041783.1:g.66459_66460del, NG_041783.1:g.66460del, NG_041783.1:g.66460dup, NG_041783.1:g.66459_66460dup, NG_041783.1:g.66458_66460dup

Select item 149106999616.

rs1491069996 has merged into rs370664797 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACACACACAC>-,AC,ACAC,ACACAC,ACACACAC,ACACACACACAC,ACACACACACACAC,ACACACACACACACAC,ACACACACACACACACAC [Show Flanks]
Chromosome:: 12:89431447 (GRCh38)
12:89825224 (GRCh37)
Canonical SPDI:: NC_000012.12:89431434:ACACACACACACACACACACAC:ACACACACACAC,NC_000012.12:89431434:ACACACACACACACACACACAC:ACACACACACACAC,NC_000012.12:89431434:ACACACACACACACACACACAC:ACACACACACACACAC,NC_000012.12:89431434:ACACACACACACACACACACAC:ACACACACACACACACAC,NC_000012.12:89431434:ACACACACACACACACACACAC:ACACACACACACACACACAC,NC_000012.12:89431434:ACACACACACACACACACACAC:ACACACACACACACACACACACAC,NC_000012.12:89431434:ACACACACACACACACACACAC:ACACACACACACACACACACACACAC,NC_000012.12:89431434:ACACACACACACACACACACAC:ACACACACACACACACACACACACACAC,NC_000012.12:89431434:ACACACACACACACACACACAC:ACACACACACACACACACACACACACACAC
Gene:: POC1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACACAC=0./0 (ALFA)
ACACACAC=0.000004/1 (TOPMED)
AC=0.210264/1053 (1000Genomes)
AC=0.243333/146 (NorthernSweden)
AC=0.3/12 (GENOME_DK)
HGVS:: NC_000012.12:g.89431435AC[6], NC_000012.12:g.89431435AC[7], NC_000012.12:g.89431435AC[8], NC_000012.12:g.89431435AC[9], NC_000012.12:g.89431435AC[10], NC_000012.12:g.89431435AC[12], NC_000012.12:g.89431435AC[13], NC_000012.12:g.89431435AC[14], NC_000012.12:g.89431435AC[15], NC_000012.11:g.89825212AC[6], NC_000012.11:g.89825212AC[7], NC_000012.11:g.89825212AC[8], NC_000012.11:g.89825212AC[9], NC_000012.11:g.89825212AC[10], NC_000012.11:g.89825212AC[12], NC_000012.11:g.89825212AC[13], NC_000012.11:g.89825212AC[14], NC_000012.11:g.89825212AC[15], NG_041783.1:g.99807GT[6], NG_041783.1:g.99807GT[7], NG_041783.1:g.99807GT[8], NG_041783.1:g.99807GT[9], NG_041783.1:g.99807GT[10], NG_041783.1:g.99807GT[12], NG_041783.1:g.99807GT[13], NG_041783.1:g.99807GT[14], NG_041783.1:g.99807GT[15]

Select item 149106646717.

rs1491066467 has merged into rs34750133 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 12:89507278 (GRCh38)
12:89901055 (GRCh37)
Canonical SPDI:: NC_000012.12:89507266:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000012.12:89507266:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:89507266:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:89507266:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:89507266:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:89507266:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:89507266:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000012.12:89507266:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000012.12:89507266:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000012.12:89507266:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000012.12:89507266:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:89507266:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:89507266:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:89507266:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:89507266:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:89507266:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:89507266:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:89507266:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:89507266:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:89507266:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: POC1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
-=0.225/9 (GENOME_DK)
HGVS:: NC_000012.12:g.89507278_89507292del, NC_000012.12:g.89507279_89507292del, NC_000012.12:g.89507280_89507292del, NC_000012.12:g.89507281_89507292del, NC_000012.12:g.89507282_89507292del, NC_000012.12:g.89507283_89507292del, NC_000012.12:g.89507284_89507292del, NC_000012.12:g.89507285_89507292del, NC_000012.12:g.89507286_89507292del, NC_000012.12:g.89507287_89507292del, NC_000012.12:g.89507289_89507292del, NC_000012.12:g.89507290_89507292del, NC_000012.12:g.89507291_89507292del, NC_000012.12:g.89507292del, NC_000012.12:g.89507292dup, NC_000012.12:g.89507291_89507292dup, NC_000012.12:g.89507290_89507292dup, NC_000012.12:g.89507289_89507292dup, NC_000012.12:g.89507288_89507292dup, NC_000012.12:g.89507287_89507292dup, NC_000012.11:g.89901055_89901069del, NC_000012.11:g.89901056_89901069del, NC_000012.11:g.89901057_89901069del, NC_000012.11:g.89901058_89901069del, NC_000012.11:g.89901059_89901069del, NC_000012.11:g.89901060_89901069del, NC_000012.11:g.89901061_89901069del, NC_000012.11:g.89901062_89901069del, NC_000012.11:g.89901063_89901069del, NC_000012.11:g.89901064_89901069del, NC_000012.11:g.89901066_89901069del, NC_000012.11:g.89901067_89901069del, NC_000012.11:g.89901068_89901069del, NC_000012.11:g.89901069del, NC_000012.11:g.89901069dup, NC_000012.11:g.89901068_89901069dup, NC_000012.11:g.89901067_89901069dup, NC_000012.11:g.89901066_89901069dup, NC_000012.11:g.89901065_89901069dup, NC_000012.11:g.89901064_89901069dup, NG_041783.1:g.23982_23996del, NG_041783.1:g.23983_23996del, NG_041783.1:g.23984_23996del, NG_041783.1:g.23985_23996del, NG_041783.1:g.23986_23996del, NG_041783.1:g.23987_23996del, NG_041783.1:g.23988_23996del, NG_041783.1:g.23989_23996del, NG_041783.1:g.23990_23996del, NG_041783.1:g.23991_23996del, NG_041783.1:g.23993_23996del, NG_041783.1:g.23994_23996del, NG_041783.1:g.23995_23996del, NG_041783.1:g.23996del, NG_041783.1:g.23996dup, NG_041783.1:g.23995_23996dup, NG_041783.1:g.23994_23996dup, NG_041783.1:g.23993_23996dup, NG_041783.1:g.23992_23996dup, NG_041783.1:g.23991_23996dup

Select item 149101865818.

rs1491018658 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 12:89510776 (GRCh38)
12:89904553 (GRCh37)
Canonical SPDI:: NC_000012.12:89510775:GA:
Gene:: POC1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00828/37 (ALFA)
-=0.00042/12 (TOMMO)
HGVS:: NC_000012.12:g.89510776_89510777del, NC_000012.11:g.89904553_89904554del, NG_041783.1:g.20486_20487del

Select item 149100871819.

rs1491008718 has merged into rs60679774 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTT>-,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 12:89514411 (GRCh38)
12:89908188 (GRCh37)
Canonical SPDI:: NC_000012.12:89514402:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000012.12:89514402:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000012.12:89514402:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000012.12:89514402:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:89514402:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:89514402:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000012.12:89514402:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:89514402:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:89514402:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000012.12:89514402:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000012.12:89514402:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000012.12:89514402:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000012.12:89514402:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:89514402:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:89514402:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:89514402:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:89514402:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:89514402:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:89514402:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:89514402:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:89514402:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:89514402:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:89514402:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:89514402:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:89514402:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:89514402:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:89514402:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:89514402:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:89514402:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:89514402:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:89514402:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:89514402:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:89514402:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:89514402:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:89514402:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:89514402:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:89514402:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:89514402:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:89514402:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:89514402:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:89514402:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:89514402:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:89514402:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: POC1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
HGVS:: NC_000012.12:g.89514411_89514427del, NC_000012.12:g.89514413_89514427del, NC_000012.12:g.89514414_89514427del, NC_000012.12:g.89514416_89514427del, NC_000012.12:g.89514417_89514427del, NC_000012.12:g.89514418_89514427del, NC_000012.12:g.89514419_89514427del, NC_000012.12:g.89514420_89514427del, NC_000012.12:g.89514421_89514427del, NC_000012.12:g.89514422_89514427del, NC_000012.12:g.89514423_89514427del, NC_000012.12:g.89514424_89514427del, NC_000012.12:g.89514425_89514427del, NC_000012.12:g.89514426_89514427del, NC_000012.12:g.89514427del, NC_000012.12:g.89514427dup, NC_000012.12:g.89514426_89514427dup, NC_000012.12:g.89514425_89514427dup, NC_000012.12:g.89514424_89514427dup, NC_000012.12:g.89514423_89514427dup, NC_000012.12:g.89514422_89514427dup, NC_000012.12:g.89514421_89514427dup, NC_000012.12:g.89514420_89514427dup, NC_000012.12:g.89514419_89514427dup, NC_000012.12:g.89514418_89514427dup, NC_000012.12:g.89514417_89514427dup, NC_000012.12:g.89514416_89514427dup, NC_000012.12:g.89514415_89514427dup, NC_000012.12:g.89514414_89514427dup, NC_000012.12:g.89514413_89514427dup, NC_000012.12:g.89514412_89514427dup, NC_000012.12:g.89514411_89514427dup, NC_000012.12:g.89514410_89514427dup, NC_000012.12:g.89514409_89514427dup, NC_000012.12:g.89514408_89514427dup, NC_000012.12:g.89514407_89514427dup, NC_000012.12:g.89514406_89514427dup, NC_000012.12:g.89514405_89514427dup, NC_000012.12:g.89514404_89514427dup, NC_000012.12:g.89514403_89514427dup, NC_000012.12:g.89514427_89514428insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.89514427_89514428insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.89514427_89514428insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.89908188_89908204del, NC_000012.11:g.89908190_89908204del, NC_000012.11:g.89908191_89908204del, NC_000012.11:g.89908193_89908204del, NC_000012.11:g.89908194_89908204del, NC_000012.11:g.89908195_89908204del, NC_000012.11:g.89908196_89908204del, NC_000012.11:g.89908197_89908204del, NC_000012.11:g.89908198_89908204del, NC_000012.11:g.89908199_89908204del, NC_000012.11:g.89908200_89908204del, NC_000012.11:g.89908201_89908204del, NC_000012.11:g.89908202_89908204del, NC_000012.11:g.89908203_89908204del, NC_000012.11:g.89908204del, NC_000012.11:g.89908204dup, NC_000012.11:g.89908203_89908204dup, NC_000012.11:g.89908202_89908204dup, NC_000012.11:g.89908201_89908204dup, NC_000012.11:g.89908200_89908204dup, NC_000012.11:g.89908199_89908204dup, NC_000012.11:g.89908198_89908204dup, NC_000012.11:g.89908197_89908204dup, NC_000012.11:g.89908196_89908204dup, NC_000012.11:g.89908195_89908204dup, NC_000012.11:g.89908194_89908204dup, NC_000012.11:g.89908193_89908204dup, NC_000012.11:g.89908192_89908204dup, NC_000012.11:g.89908191_89908204dup, NC_000012.11:g.89908190_89908204dup, NC_000012.11:g.89908189_89908204dup, NC_000012.11:g.89908188_89908204dup, NC_000012.11:g.89908187_89908204dup, NC_000012.11:g.89908186_89908204dup, NC_000012.11:g.89908185_89908204dup, NC_000012.11:g.89908184_89908204dup, NC_000012.11:g.89908183_89908204dup, NC_000012.11:g.89908182_89908204dup, NC_000012.11:g.89908181_89908204dup, NC_000012.11:g.89908180_89908204dup, NC_000012.11:g.89908204_89908205insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.89908204_89908205insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.89908204_89908205insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_041783.1:g.16844_16860del, NG_041783.1:g.16846_16860del, NG_041783.1:g.16847_16860del, NG_041783.1:g.16849_16860del, NG_041783.1:g.16850_16860del, NG_041783.1:g.16851_16860del, NG_041783.1:g.16852_16860del, NG_041783.1:g.16853_16860del, NG_041783.1:g.16854_16860del, NG_041783.1:g.16855_16860del, NG_041783.1:g.16856_16860del, NG_041783.1:g.16857_16860del, NG_041783.1:g.16858_16860del, NG_041783.1:g.16859_16860del, NG_041783.1:g.16860del, NG_041783.1:g.16860dup, NG_041783.1:g.16859_16860dup, NG_041783.1:g.16858_16860dup, NG_041783.1:g.16857_16860dup, NG_041783.1:g.16856_16860dup, NG_041783.1:g.16855_16860dup, NG_041783.1:g.16854_16860dup, NG_041783.1:g.16853_16860dup, NG_041783.1:g.16852_16860dup, NG_041783.1:g.16851_16860dup, NG_041783.1:g.16850_16860dup, NG_041783.1:g.16849_16860dup, NG_041783.1:g.16848_16860dup, NG_041783.1:g.16847_16860dup, NG_041783.1:g.16846_16860dup, NG_041783.1:g.16845_16860dup, NG_041783.1:g.16844_16860dup, NG_041783.1:g.16843_16860dup, NG_041783.1:g.16842_16860dup, NG_041783.1:g.16841_16860dup, NG_041783.1:g.16840_16860dup, NG_041783.1:g.16839_16860dup, NG_041783.1:g.16838_16860dup, NG_041783.1:g.16837_16860dup, NG_041783.1:g.16836_16860dup, NG_041783.1:g.16860_16861insAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_041783.1:g.16860_16861insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_041783.1:g.16860_16861insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 149098986820.

rs1490989868 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 12:89528613 (GRCh38)
12:89922390 (GRCh37)
Canonical SPDI:: NC_000012.12:89528612:C:G,NC_000012.12:89528612:C:T
Gene:: POC1B-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.00004/1 (TOMMO)
HGVS:: NC_000012.12:g.89528613C>G, NC_000012.12:g.89528613C>T, NC_000012.11:g.89922390C>G, NC_000012.11:g.89922390C>T, NG_041783.1:g.2650G>C, NG_041783.1:g.2650G>A, NG_054725.1:g.2650G>C, NG_054725.1:g.2650G>A, NG_050753.1:g.1194G>C, NG_050753.1:g.1194G>A

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