SNP Links for Gene (Select 54600) - SNP

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Select item 14915370241.

rs1491537024 has merged into rs899779207 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACA>-,CA,CACACA,CACACACA [Show Flanks]
Chromosome:: 2:233690772 (GRCh38)
2:234599418 (GRCh37)
Canonical SPDI:: NC_000002.12:233690760:ACACACACACACACA:ACACACACACA,NC_000002.12:233690760:ACACACACACACACA:ACACACACACACA,NC_000002.12:233690760:ACACACACACACACA:ACACACACACACACACA,NC_000002.12:233690760:ACACACACACACACA:ACACACACACACACACACA
Gene:: UGT1A10 (Varview), UGT1A8 (Varview), UGT1A7 (Varview), UGT1A6 (Varview), UGT1A9 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACA=0./0 (ALFA)
-=0.000015/4 (TOPMED)
AC=0.000248/4 (TOMMO)
HGVS:: NC_000002.12:g.233690762CA[5], NC_000002.12:g.233690762CA[6], NC_000002.12:g.233690762CA[8], NC_000002.12:g.233690762CA[9], NC_000002.11:g.234599408CA[5], NC_000002.11:g.234599408CA[6], NC_000002.11:g.234599408CA[8], NC_000002.11:g.234599408CA[9], NG_002601.2:g.106019CA[5], NG_002601.2:g.106019CA[6], NG_002601.2:g.106019CA[8], NG_002601.2:g.106019CA[9]

Select item 14914802552.

rs1491480255 [Homo sapiens]

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

Select item 14914778303.

rs1491477830 has merged into rs11336071 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,A,AAA,AAAA,AAAAAA,AAAAAAA [Show Flanks]
Chromosome:: 2:233705145 (GRCh38)
2:234613791 (GRCh37)
Canonical SPDI:: NC_000002.12:233705136:AAAAAAAAAAAAA:AAAAAAAA,NC_000002.12:233705136:AAAAAAAAAAAAA:AAAAAAAAA,NC_000002.12:233705136:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:233705136:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:233705136:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:233705136:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA
Gene:: UGT1A10 (Varview), UGT1A8 (Varview), UGT1A7 (Varview), UGT1A6 (Varview), UGT1A9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.401/2008 (1000Genomes)
A=0.425/17 (GENOME_DK)
-=0.4671/1732 (TWINSUK)
-=0.4727/277 (NorthernSweden)
-=0.486/1873 (ALSPAC)
HGVS:: NC_000002.12:g.233705145_233705149del, NC_000002.12:g.233705146_233705149del, NC_000002.12:g.233705148_233705149del, NC_000002.12:g.233705149del, NC_000002.12:g.233705149dup, NC_000002.12:g.233705148_233705149dup, NC_000002.11:g.234613791_234613795del, NC_000002.11:g.234613792_234613795del, NC_000002.11:g.234613794_234613795del, NC_000002.11:g.234613795del, NC_000002.11:g.234613795dup, NC_000002.11:g.234613794_234613795dup, NG_002601.2:g.120402_120406del, NG_002601.2:g.120403_120406del, NG_002601.2:g.120405_120406del, NG_002601.2:g.120406del, NG_002601.2:g.120406dup, NG_002601.2:g.120405_120406dup

Select item 14913892394.

rs1491389239 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 2:233672509 (GRCh38)
2:234581155 (GRCh37)
Canonical SPDI:: NC_000002.12:233672507:AGA:A
Gene:: UGT1A10 (Varview), UGT1A8 (Varview), UGT1A9 (Varview)
Functional Consequence:: frameshift_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: -=0.000012/3 (GnomAD_exomes)
-=0.00005/7 (GnomAD)
HGVS:: NC_000002.12:g.233672509_233672510del, NC_000002.11:g.234581155_234581156del, NG_002601.2:g.87766_87767del, NM_021027.2:c.575_576del, NM_021027.3:c.575_576del, NP_066307.1:p.Arg192fs

Select item 14913872095.

rs1491387209 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 2:233740927 (GRCh38)
2:234649573 (GRCh37)
Canonical SPDI:: NC_000002.12:233740926:GT:
Gene:: UGT1A10 (Varview), UGT1A8 (Varview), UGT1A7 (Varview), UGT1A6 (Varview), UGT1A5 (Varview), UGT1A9 (Varview), UGT1A4 (Varview), UGT1A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.233740927_233740928del, NC_000002.11:g.234649573_234649574del, NG_002601.2:g.156184_156185del

Select item 14913860886.

rs1491386088 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 2:233705136 (GRCh38)
2:234613782 (GRCh37)
Canonical SPDI:: NC_000002.12:233705135:GA:
Gene:: UGT1A10 (Varview), UGT1A8 (Varview), UGT1A7 (Varview), UGT1A6 (Varview), UGT1A9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.01121/133 (ALFA)
-=0.01577/101 (1000Genomes)
-=0.02091/1885 (GnomAD)
HGVS:: NC_000002.12:g.233705136_233705137del, NC_000002.11:g.234613782_234613783del, NG_002601.2:g.120393_120394del

Select item 14913133027.

rs1491313302 has merged into rs3064744 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATA>-,TA,TATATA,TATATATA,TATATATATA,TATATATATATA [Show Flanks]
Chromosome:: 2:233760245 (GRCh38)
2:234668891 (GRCh37)
Canonical SPDI:: NC_000002.12:233760233:ATATATATATATATA:ATATATATATA,NC_000002.12:233760233:ATATATATATATATA:ATATATATATATA,NC_000002.12:233760233:ATATATATATATATA:ATATATATATATATATA,NC_000002.12:233760233:ATATATATATATATA:ATATATATATATATATATA,NC_000002.12:233760233:ATATATATATATATA:ATATATATATATATATATATA,NC_000002.12:233760233:ATATATATATATATA:ATATATATATATATATATATATA
Gene:: UGT1A10 (Varview), UGT1A8 (Varview), UGT1A7 (Varview), UGT1A6 (Varview), UGT1A5 (Varview), UGT1A9 (Varview), UGT1A4 (Varview), UGT1A1 (Varview), UGT1A3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Clinical significance:: benign,pathogenic,drug-response,other,conflicting-interpretations-of-pathogenicity,association
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATATATATATATA=0./0 (ALFA)
AT=0.0888/19 (Vietnamese)
AT=0.2986/298 (GoNL)
AT=0.3/12 (GENOME_DK)
AT=0.3253/1629 (1000Genomes)
AT=0.3454/1537 (Estonian)
HGVS:: NC_000002.12:g.233760235TA[5], NC_000002.12:g.233760235TA[6], NC_000002.12:g.233760235TA[8], NC_000002.12:g.233760235TA[9], NC_000002.12:g.233760235TA[10], NC_000002.12:g.233760235TA[11], NC_000002.11:g.234668881TA[5], NC_000002.11:g.234668881TA[6], NC_000002.11:g.234668881TA[8], NC_000002.11:g.234668881TA[9], NC_000002.11:g.234668881TA[10], NC_000002.11:g.234668881TA[11], NG_002601.2:g.175492TA[5], NG_002601.2:g.175492TA[6], NG_002601.2:g.175492TA[8], NG_002601.2:g.175492TA[9], NG_002601.2:g.175492TA[10], NG_002601.2:g.175492TA[11], NG_033238.1:g.4963TA[5], NG_033238.1:g.4963TA[6], NG_033238.1:g.4963TA[8], NG_033238.1:g.4963TA[9], NG_033238.1:g.4963TA[10], NG_033238.1:g.4963TA[11]

Select item 14913126358.

rs1491312635 has merged into rs71398794 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:233687593 (GRCh38)
2:234596239 (GRCh37)
Canonical SPDI:: NC_000002.12:233687583:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000002.12:233687583:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000002.12:233687583:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:233687583:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:233687583:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:233687583:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:233687583:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:233687583:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:233687583:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:233687583:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:233687583:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:233687583:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:233687583:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:233687583:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:233687583:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:233687583:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:233687583:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:233687583:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:233687583:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: UGT1A10 (Varview), UGT1A8 (Varview), UGT1A7 (Varview), UGT1A9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000002.12:g.233687593_233687607del, NC_000002.12:g.233687594_233687607del, NC_000002.12:g.233687595_233687607del, NC_000002.12:g.233687597_233687607del, NC_000002.12:g.233687598_233687607del, NC_000002.12:g.233687599_233687607del, NC_000002.12:g.233687601_233687607del, NC_000002.12:g.233687602_233687607del, NC_000002.12:g.233687603_233687607del, NC_000002.12:g.233687604_233687607del, NC_000002.12:g.233687605_233687607del, NC_000002.12:g.233687606_233687607del, NC_000002.12:g.233687607del, NC_000002.12:g.233687607dup, NC_000002.12:g.233687606_233687607dup, NC_000002.12:g.233687605_233687607dup, NC_000002.12:g.233687603_233687607dup, NC_000002.12:g.233687595_233687607dup, NC_000002.12:g.233687587_233687607dup, NC_000002.11:g.234596239_234596253del, NC_000002.11:g.234596240_234596253del, NC_000002.11:g.234596241_234596253del, NC_000002.11:g.234596243_234596253del, NC_000002.11:g.234596244_234596253del, NC_000002.11:g.234596245_234596253del, NC_000002.11:g.234596247_234596253del, NC_000002.11:g.234596248_234596253del, NC_000002.11:g.234596249_234596253del, NC_000002.11:g.234596250_234596253del, NC_000002.11:g.234596251_234596253del, NC_000002.11:g.234596252_234596253del, NC_000002.11:g.234596253del, NC_000002.11:g.234596253dup, NC_000002.11:g.234596252_234596253dup, NC_000002.11:g.234596251_234596253dup, NC_000002.11:g.234596249_234596253dup, NC_000002.11:g.234596241_234596253dup, NC_000002.11:g.234596233_234596253dup, NG_002601.2:g.102850_102864del, NG_002601.2:g.102851_102864del, NG_002601.2:g.102852_102864del, NG_002601.2:g.102854_102864del, NG_002601.2:g.102855_102864del, NG_002601.2:g.102856_102864del, NG_002601.2:g.102858_102864del, NG_002601.2:g.102859_102864del, NG_002601.2:g.102860_102864del, NG_002601.2:g.102861_102864del, NG_002601.2:g.102862_102864del, NG_002601.2:g.102863_102864del, NG_002601.2:g.102864del, NG_002601.2:g.102864dup, NG_002601.2:g.102863_102864dup, NG_002601.2:g.102862_102864dup, NG_002601.2:g.102860_102864dup, NG_002601.2:g.102852_102864dup, NG_002601.2:g.102844_102864dup

Select item 14913115949.

rs1491311594 has merged into rs10714492 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,TT,TTTT [Show Flanks]
Chromosome:: 2:233740935 (GRCh38)
2:234649581 (GRCh37)
Canonical SPDI:: NC_000002.12:233740927:TTTTTTTTTT:TTTTTTT,NC_000002.12:233740927:TTTTTTTTTT:TTTTTTTTT,NC_000002.12:233740927:TTTTTTTTTT:TTTTTTTTTTT
Gene:: UGT1A10 (Varview), UGT1A8 (Varview), UGT1A7 (Varview), UGT1A6 (Varview), UGT1A5 (Varview), UGT1A9 (Varview), UGT1A4 (Varview), UGT1A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0.000209/2 (ALFA)
-=0.247098/4141 (TOMMO)
-=0.418333/251 (NorthernSweden)
T=0.41853/2096 (1000Genomes)
-=0.43069/1597 (TWINSUK)
-=0.445771/1718 (ALSPAC)
T=0.448544/118725 (TOPMED)
T=0.45/18 (GENOME_DK)
HGVS:: NC_000002.12:g.233740935_233740937del, NC_000002.12:g.233740937del, NC_000002.12:g.233740937dup, NC_000002.11:g.234649581_234649583del, NC_000002.11:g.234649583del, NC_000002.11:g.234649583dup, NG_002601.2:g.156192_156194del, NG_002601.2:g.156194del, NG_002601.2:g.156194dup

Select item 149130386610.

rs1491303866 has merged into rs199649558 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>-,GTGT,GTGTGT,GTGTGTGT [Show Flanks]
Chromosome:: 2:233757562 (GRCh38)
2:234666208 (GRCh37)
Canonical SPDI:: NC_000002.12:233757560:TGT:T,NC_000002.12:233757560:TGT:TGTGT,NC_000002.12:233757560:TGT:TGTGTGT,NC_000002.12:233757560:TGT:TGTGTGTGT
Gene:: UGT1A10 (Varview), UGT1A8 (Varview), UGT1A7 (Varview), UGT1A6 (Varview), UGT1A5 (Varview), UGT1A9 (Varview), UGT1A4 (Varview), UGT1A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGT=0./0 (ALFA)
HGVS:: NC_000002.12:g.233757562_233757563del, NC_000002.12:g.233757562_233757563dup, NC_000002.12:g.233757562GT[3], NC_000002.12:g.233757562GT[4], NC_000002.11:g.234666208_234666209del, NC_000002.11:g.234666208_234666209dup, NC_000002.11:g.234666208GT[3], NC_000002.11:g.234666208GT[4], NG_002601.2:g.172819_172820del, NG_002601.2:g.172819_172820dup, NG_002601.2:g.172819GT[3], NG_002601.2:g.172819GT[4], NG_033238.1:g.2290_2291del, NG_033238.1:g.2290_2291dup, NG_033238.1:g.2290GT[3], NG_033238.1:g.2290GT[4]

Select item 149126630111.

rs1491266301 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 2:233687583 (GRCh38)
2:234596229 (GRCh37)
Canonical SPDI:: NC_000002.12:233687582:TA:
Gene:: UGT1A10 (Varview), UGT1A8 (Varview), UGT1A7 (Varview), UGT1A9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000002.12:g.233687583_233687584del, NC_000002.11:g.234596229_234596230del, NG_002601.2:g.102840_102841del

Select item 149122711712.

rs1491227117 has merged into rs60621337 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTT>-,TTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:233720881 (GRCh38)
2:234629527 (GRCh37)
Canonical SPDI:: NC_000002.12:233720871:TTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000002.12:233720871:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:233720871:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:233720871:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:233720871:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:233720871:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:233720871:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:233720871:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:233720871:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:233720871:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:233720871:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:233720871:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: UGT1A10 (Varview), UGT1A8 (Varview), UGT1A7 (Varview), UGT1A6 (Varview), UGT1A5 (Varview), UGT1A9 (Varview), UGT1A4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000002.12:g.233720881_233720890del, NC_000002.12:g.233720885_233720890del, NC_000002.12:g.233720887_233720890del, NC_000002.12:g.233720889_233720890del, NC_000002.12:g.233720890del, NC_000002.12:g.233720890dup, NC_000002.12:g.233720889_233720890dup, NC_000002.12:g.233720888_233720890dup, NC_000002.12:g.233720887_233720890dup, NC_000002.12:g.233720886_233720890dup, NC_000002.12:g.233720884_233720890dup, NC_000002.12:g.233720881_233720890dup, NC_000002.11:g.234629527_234629536del, NC_000002.11:g.234629531_234629536del, NC_000002.11:g.234629533_234629536del, NC_000002.11:g.234629535_234629536del, NC_000002.11:g.234629536del, NC_000002.11:g.234629536dup, NC_000002.11:g.234629535_234629536dup, NC_000002.11:g.234629534_234629536dup, NC_000002.11:g.234629533_234629536dup, NC_000002.11:g.234629532_234629536dup, NC_000002.11:g.234629530_234629536dup, NC_000002.11:g.234629527_234629536dup, NG_002601.2:g.136138_136147del, NG_002601.2:g.136142_136147del, NG_002601.2:g.136144_136147del, NG_002601.2:g.136146_136147del, NG_002601.2:g.136147del, NG_002601.2:g.136147dup, NG_002601.2:g.136146_136147dup, NG_002601.2:g.136145_136147dup, NG_002601.2:g.136144_136147dup, NG_002601.2:g.136143_136147dup, NG_002601.2:g.136141_136147dup, NG_002601.2:g.136138_136147dup

Select item 149121635013.

rs1491216350 [Homo sapiens]

Variant type:: INS
Alleles:: ->AT [Show Flanks]
Chromosome:: 2:233672508 (GRCh38)
2:234581155 (GRCh37)
Canonical SPDI:: NC_000002.12:233672508::AT
Gene:: UGT1A10 (Varview), UGT1A8 (Varview), UGT1A9 (Varview)
Functional Consequence:: frameshift_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: AT=0.000169/2 (ALFA)
AT=0.000038/10 (TOPMED)
HGVS:: NC_000002.12:g.233672508_233672509insAT, NC_000002.11:g.234581154_234581155insAT, NG_002601.2:g.87765_87766insAT, NM_021027.2:c.574_575insAT, NM_021027.3:c.574_575insAT, NP_066307.1:p.Arg192fs

Select item 149115372114.

rs1491153721 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:233681530 (GRCh38)
2:234590176 (GRCh37)
Canonical SPDI:: NC_000002.12:233681529:CA:
Gene:: UGT1A10 (Varview), UGT1A8 (Varview), UGT1A7 (Varview), UGT1A9 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: -=0.00211/25 (ALFA)
HGVS:: NC_000002.12:g.233681530_233681531del, NC_000002.11:g.234590176_234590177del, NG_002601.2:g.96787_96788del

Select item 149107039015.

rs1491070390 has merged into rs78127606 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:233731296 (GRCh38)
2:234639942 (GRCh37)
Canonical SPDI:: NC_000002.12:233731284:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:233731284:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:233731284:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:233731284:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:233731284:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:233731284:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:233731284:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:233731284:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:233731284:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:233731284:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:233731284:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:233731284:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: UGT1A10 (Varview), UGT1A8 (Varview), UGT1A7 (Varview), UGT1A6 (Varview), UGT1A5 (Varview), UGT1A9 (Varview), UGT1A4 (Varview), UGT1A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTT=0./0 (ALFA)
T=0.00629/6 (1000Genomes)
-=0.25/10 (GENOME_DK)
HGVS:: NC_000002.12:g.233731296_233731298del, NC_000002.12:g.233731297_233731298del, NC_000002.12:g.233731298del, NC_000002.12:g.233731298dup, NC_000002.12:g.233731297_233731298dup, NC_000002.12:g.233731296_233731298dup, NC_000002.12:g.233731290_233731298dup, NC_000002.12:g.233731289_233731298dup, NC_000002.12:g.233731288_233731298dup, NC_000002.12:g.233731287_233731298dup, NC_000002.12:g.233731286_233731298dup, NC_000002.12:g.233731298_233731299insTTTTTTTTTTTTTTTT, NC_000002.11:g.234639942_234639944del, NC_000002.11:g.234639943_234639944del, NC_000002.11:g.234639944del, NC_000002.11:g.234639944dup, NC_000002.11:g.234639943_234639944dup, NC_000002.11:g.234639942_234639944dup, NC_000002.11:g.234639936_234639944dup, NC_000002.11:g.234639935_234639944dup, NC_000002.11:g.234639934_234639944dup, NC_000002.11:g.234639933_234639944dup, NC_000002.11:g.234639932_234639944dup, NC_000002.11:g.234639944_234639945insTTTTTTTTTTTTTTTT, NG_002601.2:g.146553_146555del, NG_002601.2:g.146554_146555del, NG_002601.2:g.146555del, NG_002601.2:g.146555dup, NG_002601.2:g.146554_146555dup, NG_002601.2:g.146553_146555dup, NG_002601.2:g.146547_146555dup, NG_002601.2:g.146546_146555dup, NG_002601.2:g.146545_146555dup, NG_002601.2:g.146544_146555dup, NG_002601.2:g.146543_146555dup, NG_002601.2:g.146555_146556insTTTTTTTTTTTTTTTT

Select item 149105802216.

rs1491058022 has merged into rs3832043 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT [Show Flanks]
Chromosome:: 2:233671816 (GRCh38)
2:234580462 (GRCh37)
Canonical SPDI:: NC_000002.12:233671807:TTTTTTTTTT:TTTTTTTT,NC_000002.12:233671807:TTTTTTTTTT:TTTTTTTTT,NC_000002.12:233671807:TTTTTTTTTT:TTTTTTTTTTT
Gene:: UGT1A10 (Varview), UGT1A8 (Varview), UGT1A9 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
T=0.29/174 (NorthernSweden)
T=0.3/12 (GENOME_DK)
T=0.327455/1467 (Estonian)
T=0.346134/1334 (ALSPAC)
T=0.377756/377 (GoNL)
T=0.377832/1401 (TWINSUK)
T=0.428403/113394 (TOPMED)
T=0.448626/2243 (1000Genomes)
HGVS:: NC_000002.12:g.233671816_233671817del, NC_000002.12:g.233671817del, NC_000002.12:g.233671817dup, NC_000002.11:g.234580462_234580463del, NC_000002.11:g.234580463del, NC_000002.11:g.234580463dup, NG_002601.2:g.87073_87074del, NG_002601.2:g.87074del, NG_002601.2:g.87074dup

Select item 149104283717.

rs1491042837 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATATAT>-,ATATATAT,ATATATATAT,ATATATATATAT,ATATATATATATATAT,ATATATATATATATATAT,ATATATATATATATATATATACATATATATAT,ATATATATATATATATATATATACATATATATAT,ATATATATATATATATATATATAT,ATATATATATATATATATATATATAT,ATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATAT [Show Flanks]
Chromosome:: 2:233757564 (GRCh38)
2:234666210 (GRCh37)
Canonical SPDI:: NC_000002.12:233757562:TATATAT:T,NC_000002.12:233757562:TATATAT:TATATATAT,NC_000002.12:233757562:TATATAT:TATATATATAT,NC_000002.12:233757562:TATATAT:TATATATATATAT,NC_000002.12:233757562:TATATAT:TATATATATATATATAT,NC_000002.12:233757562:TATATAT:TATATATATATATATATAT,NC_000002.12:233757562:TATATAT:TATATATATATATATATATATACATATATATAT,NC_000002.12:233757562:TATATAT:TATATATATATATATATATATATACATATATATAT,NC_000002.12:233757562:TATATAT:TATATATATATATATATATATATAT,NC_000002.12:233757562:TATATAT:TATATATATATATATATATATATATAT,NC_000002.12:233757562:TATATAT:TATATATATATATATATATATATATATAT,NC_000002.12:233757562:TATATAT:TATATATATATATATATATATATATATATAT
Gene:: UGT1A10 (Varview), UGT1A8 (Varview), UGT1A7 (Varview), UGT1A6 (Varview), UGT1A5 (Varview), UGT1A9 (Varview), UGT1A4 (Varview), UGT1A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATAT=0./0 (ALFA)
TATATATATATATATATATATATA=0.00006/1 (TOMMO)
HGVS:: NC_000002.12:g.233757564_233757569del, NC_000002.12:g.233757564AT[4], NC_000002.12:g.233757564AT[5], NC_000002.12:g.233757564AT[6], NC_000002.12:g.233757564AT[8], NC_000002.12:g.233757564AT[9], NC_000002.12:g.233757563_233757569TA[11]CATATATATAT[1], NC_000002.12:g.233757563_233757569TA[12]CATATATATAT[1], NC_000002.12:g.233757564AT[12], NC_000002.12:g.233757564AT[13], NC_000002.12:g.233757564AT[14], NC_000002.12:g.233757564AT[15], NC_000002.11:g.234666210_234666215del, NC_000002.11:g.234666210AT[4], NC_000002.11:g.234666210AT[5], NC_000002.11:g.234666210AT[6], NC_000002.11:g.234666210AT[8], NC_000002.11:g.234666210AT[9], NC_000002.11:g.234666209_234666215TA[11]CATATATATAT[1], NC_000002.11:g.234666209_234666215TA[12]CATATATATAT[1], NC_000002.11:g.234666210AT[12], NC_000002.11:g.234666210AT[13], NC_000002.11:g.234666210AT[14], NC_000002.11:g.234666210AT[15], NG_002601.2:g.172821_172826del, NG_002601.2:g.172821AT[4], NG_002601.2:g.172821AT[5], NG_002601.2:g.172821AT[6], NG_002601.2:g.172821AT[8], NG_002601.2:g.172821AT[9], NG_002601.2:g.172820_172826TA[11]CATATATATAT[1], NG_002601.2:g.172820_172826TA[12]CATATATATAT[1], NG_002601.2:g.172821AT[12], NG_002601.2:g.172821AT[13], NG_002601.2:g.172821AT[14], NG_002601.2:g.172821AT[15], NG_033238.1:g.2292_2297del, NG_033238.1:g.2292AT[4], NG_033238.1:g.2292AT[5], NG_033238.1:g.2292AT[6], NG_033238.1:g.2292AT[8], NG_033238.1:g.2292AT[9], NG_033238.1:g.2291_2297TA[11]CATATATATAT[1], NG_033238.1:g.2291_2297TA[12]CATATATATAT[1], NG_033238.1:g.2292AT[12], NG_033238.1:g.2292AT[13], NG_033238.1:g.2292AT[14], NG_033238.1:g.2292AT[15]

Select item 149101280618.

rs1491012806 has merged into rs71398796 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:233695141 (GRCh38)
2:234603787 (GRCh37)
Canonical SPDI:: NC_000002.12:233695130:TTTTTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:233695130:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:233695130:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:233695130:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:233695130:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:233695130:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:233695130:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:233695130:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:233695130:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:233695130:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:233695130:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT
Gene:: UGT1A10 (Varview), UGT1A8 (Varview), UGT1A7 (Varview), UGT1A6 (Varview), UGT1A9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
-=0.3385/197 (NorthernSweden)
-=0.4193/2100 (1000Genomes)
HGVS:: NC_000002.12:g.233695141_233695144del, NC_000002.12:g.233695142_233695144del, NC_000002.12:g.233695143_233695144del, NC_000002.12:g.233695144del, NC_000002.12:g.233695144dup, NC_000002.12:g.233695143_233695144dup, NC_000002.12:g.233695140_233695144dup, NC_000002.12:g.233695139_233695144dup, NC_000002.12:g.233695137_233695144dup, NC_000002.12:g.233695136_233695144dup, NC_000002.12:g.233695135_233695144dup, NC_000002.11:g.234603787_234603790del, NC_000002.11:g.234603788_234603790del, NC_000002.11:g.234603789_234603790del, NC_000002.11:g.234603790del, NC_000002.11:g.234603790dup, NC_000002.11:g.234603789_234603790dup, NC_000002.11:g.234603786_234603790dup, NC_000002.11:g.234603785_234603790dup, NC_000002.11:g.234603783_234603790dup, NC_000002.11:g.234603782_234603790dup, NC_000002.11:g.234603781_234603790dup, NG_002601.2:g.110398_110401del, NG_002601.2:g.110399_110401del, NG_002601.2:g.110400_110401del, NG_002601.2:g.110401del, NG_002601.2:g.110401dup, NG_002601.2:g.110400_110401dup, NG_002601.2:g.110397_110401dup, NG_002601.2:g.110396_110401dup, NG_002601.2:g.110394_110401dup, NG_002601.2:g.110393_110401dup, NG_002601.2:g.110392_110401dup

Select item 149092738819.

rs1490927388 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:233725073 (GRCh38)
2:234633719 (GRCh37)
Canonical SPDI:: NC_000002.12:233725072:G:A
Gene:: UGT1A10 (Varview), UGT1A8 (Varview), UGT1A7 (Varview), UGT1A6 (Varview), UGT1A5 (Varview), UGT1A9 (Varview), UGT1A4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.233725073G>A, NC_000002.11:g.234633719G>A, NG_002601.2:g.140330G>A

Select item 149092256420.

rs1490922564 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:233753875 (GRCh38)
2:234662521 (GRCh37)
Canonical SPDI:: NC_000002.12:233753874:C:T
Gene:: UGT1A10 (Varview), UGT1A8 (Varview), UGT1A7 (Varview), UGT1A6 (Varview), UGT1A5 (Varview), UGT1A9 (Varview), UGT1A4 (Varview), UGT1A3 (Varview), LOC100286922 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.233753875C>T, NC_000002.11:g.234662521C>T, NG_002601.2:g.169132C>T

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