SNP Links for Gene (Select 574537) - SNP

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Select item 14915749101.

rs1491574910 has merged into rs1491249181 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>- [Show Flanks]
Chromosome:: 4:69618221 (GRCh38)
4:70483939 (GRCh37)
Canonical SPDI:: NC_000004.12:69618219:TTT:T
Gene:: UGT2A1 (Varview), UGT2A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00093/11 (ALFA)
-=0.00001/1 (GnomAD)
-=0.2616/970 (TWINSUK)
-=0.27997/1079 (ALSPAC)
HGVS:: NC_000004.12:g.69618221_69618222del, NC_000004.11:g.70483939_70483940del

Select item 14915199722.

rs1491519972 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATATA>-,TATATATA [Show Flanks]
Chromosome:: 4:69593565 (GRCh38)
4:70459283 (GRCh37)
Canonical SPDI:: NC_000004.12:69593560:TATATATATA:TATA,NC_000004.12:69593560:TATATATATA:TATATATATATA
Gene:: UGT2A1 (Varview), UGT2A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATA=0./0 (ALFA)
TA=0.000008/1 (GnomAD)
TA=0.000011/3 (TOPMED)
HGVS:: NC_000004.12:g.69593561TA[2], NC_000004.12:g.69593561TA[6], NC_000004.11:g.70459279TA[2], NC_000004.11:g.70459279TA[6]

Select item 14914323663.

rs1491432366 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTAC [Show Flanks]
Chromosome:: 4:69591792 (GRCh38)
4:70457511 (GRCh37)
Canonical SPDI:: NC_000004.12:69591792:GTAC:GTACGTAC
Gene:: UGT2A1 (Varview), UGT2A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTACGTAC=0./0 (ALFA)
GTAC=0.000004/1 (TOPMED)
GTAC=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.69591793_69591796dup, NC_000004.11:g.70457511_70457514dup

Select item 14914195144.

rs1491419514 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 4:69593981 (GRCh38)
4:70459699 (GRCh37)
Canonical SPDI:: NC_000004.12:69593979:TGT:T
Gene:: UGT2A1 (Varview), UGT2A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.000029/4 (GnomAD)
-=0.004913/9 (Korea1K)
HGVS:: NC_000004.12:g.69593981_69593982del, NC_000004.11:g.70459699_70459700del

Select item 14913880875.

rs1491388087 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 4:69618187 (GRCh38)
4:70483905 (GRCh37)
Canonical SPDI:: NC_000004.12:69618186:AT:
Gene:: UGT2A1 (Varview), UGT2A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00189/90 (GnomAD)
HGVS:: NC_000004.12:g.69618187_69618188del, NC_000004.11:g.70483905_70483906del

Select item 14913714776.

rs1491371477 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,AAAA [Show Flanks]
Chromosome:: 4:69627548 (GRCh38)
4:70493266 (GRCh37)
Canonical SPDI:: NC_000004.12:69627546:AAA:A,NC_000004.12:69627546:AAA:AAAAA
Gene:: UGT2A1 (Varview), UGT2A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.03844/456 (ALFA)
-=0.01568/9 (NorthernSweden)
-=0.04303/721 (TOMMO)
-=0.05/2 (GENOME_DK)
-=0.05635/103 (Korea1K)
-=0.05745/5137 (GnomAD)
-=0.12351/476 (ALSPAC)
-=0.1281/475 (TWINSUK)
HGVS:: NC_000004.12:g.69627548_69627549del, NC_000004.12:g.69627548_69627549dup, NC_000004.11:g.70493266_70493267del, NC_000004.11:g.70493266_70493267dup

Select item 14912883767.

rs1491288376 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 4:69616850 (GRCh38)
4:70482568 (GRCh37)
Canonical SPDI:: NC_000004.12:69616849:TG:
Gene:: UGT2A1 (Varview), UGT2A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00233/38 (ALFA)
-=0.00051/65 (GnomAD)
-=0.318111/1226 (ALSPAC)
-=0.334951/1242 (TWINSUK)
HGVS:: NC_000004.12:g.69616850_69616851del, NC_000004.11:g.70482568_70482569del

Select item 14912491818.

rs1491249181 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>- [Show Flanks]
Chromosome:: 4:69618221 (GRCh38)
4:70483939 (GRCh37)
Canonical SPDI:: NC_000004.12:69618219:TTT:T
Gene:: UGT2A1 (Varview), UGT2A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00093/11 (ALFA)
-=0.00001/1 (GnomAD)
-=0.2616/970 (TWINSUK)
-=0.27997/1079 (ALSPAC)
HGVS:: NC_000004.12:g.69618221_69618222del, NC_000004.11:g.70483939_70483940del

Select item 14912262729.

rs1491226272 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTT [Show Flanks]
Chromosome:: 4:69616834 (GRCh38)
4:70482553 (GRCh37)
Canonical SPDI:: NC_000004.12:69616834:TT:TTCTT
Gene:: UGT2A1 (Varview), UGT2A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTCTT=0.00017/2 (ALFA)
TTC=0.00175/20 (GnomAD)
TTC=0.00563/74 (TOMMO)
HGVS:: NC_000004.12:g.69616836_69616837insCTT, NC_000004.11:g.70482554_70482555insCTT

Select item 149122264610.

rs1491222646 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 4:69627533 (GRCh38)
4:70493252 (GRCh37)
Canonical SPDI:: NC_000004.12:69627533::G
Gene:: UGT2A1 (Varview), UGT2A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: G=0.00001/1 (GnomAD)
HGVS:: NC_000004.12:g.69627533_69627534insG, NC_000004.11:g.70493251_70493252insG

Select item 149121573811.

rs1491215738 has merged into rs34698455 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,TTTT [Show Flanks]
Chromosome:: 4:69590661 (GRCh38)
4:70456379 (GRCh37)
Canonical SPDI:: NC_000004.12:69590659:TTT:T,NC_000004.12:69590659:TTT:TTTTT
Gene:: UGT2A1 (Varview), UGT2A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000253/3 (ALFA)
-=0.000095/13 (GnomAD)
-=0.148677/573 (ALSPAC)
-=0.15534/576 (TWINSUK)
HGVS:: NC_000004.12:g.69590661_69590662del, NC_000004.12:g.69590661_69590662dup, NC_000004.11:g.70456379_70456380del, NC_000004.11:g.70456379_70456380dup

Select item 149114990312.

rs1491149903 [Homo sapiens]

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

Select item 149103754113.

rs1491037541 has merged into rs10627999 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT [Show Flanks]
Chromosome:: 4:69609168 (GRCh38)
4:70474886 (GRCh37)
Canonical SPDI:: NC_000004.12:69609155:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000004.12:69609155:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000004.12:69609155:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000004.12:69609155:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000004.12:69609155:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000004.12:69609155:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000004.12:69609155:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000004.12:69609155:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000004.12:69609155:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000004.12:69609155:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT
Gene:: UGT2A1 (Varview), UGT2A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.4109/2058 (1000Genomes)
HGVS:: NC_000004.12:g.69609168_69609170del, NC_000004.12:g.69609169_69609170del, NC_000004.12:g.69609170del, NC_000004.12:g.69609170dup, NC_000004.12:g.69609169_69609170dup, NC_000004.12:g.69609168_69609170dup, NC_000004.12:g.69609167_69609170dup, NC_000004.12:g.69609166_69609170dup, NC_000004.12:g.69609165_69609170dup, NC_000004.12:g.69609164_69609170dup, NC_000004.11:g.70474886_70474888del, NC_000004.11:g.70474887_70474888del, NC_000004.11:g.70474888del, NC_000004.11:g.70474888dup, NC_000004.11:g.70474887_70474888dup, NC_000004.11:g.70474886_70474888dup, NC_000004.11:g.70474885_70474888dup, NC_000004.11:g.70474884_70474888dup, NC_000004.11:g.70474883_70474888dup, NC_000004.11:g.70474882_70474888dup

Select item 149103433214.

rs1491034332 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 4:69593977 (GRCh38)
4:70459695 (GRCh37)
Canonical SPDI:: NC_000004.12:69593975:TGT:T
Gene:: UGT2A1 (Varview), UGT2A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.00278/33 (ALFA)
HGVS:: NC_000004.12:g.69593977_69593978del, NC_000004.11:g.70459695_70459696del

Select item 149100746615.

rs1491007466 has merged into rs71671445 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACACA>-,CA,CACA,CACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA [Show Flanks]
Chromosome:: 4:69597729 (GRCh38)
4:70463447 (GRCh37)
Canonical SPDI:: NC_000004.12:69597715:ACACACACACACACACACACA:ACACACACACACA,NC_000004.12:69597715:ACACACACACACACACACACA:ACACACACACACACA,NC_000004.12:69597715:ACACACACACACACACACACA:ACACACACACACACACA,NC_000004.12:69597715:ACACACACACACACACACACA:ACACACACACACACACACA,NC_000004.12:69597715:ACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000004.12:69597715:ACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000004.12:69597715:ACACACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000004.12:69597715:ACACACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000004.12:69597715:ACACACACACACACACACACA:ACACACACACACACACACACACACACACACA
Gene:: UGT2A1 (Varview), UGT2A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACACA=0./0 (ALFA)
AC=0.4103/2055 (1000Genomes)
-=0.475/19 (GENOME_DK)
HGVS:: NC_000004.12:g.69597717CA[6], NC_000004.12:g.69597717CA[7], NC_000004.12:g.69597717CA[8], NC_000004.12:g.69597717CA[9], NC_000004.12:g.69597717CA[11], NC_000004.12:g.69597717CA[12], NC_000004.12:g.69597717CA[13], NC_000004.12:g.69597717CA[14], NC_000004.12:g.69597717CA[15], NC_000004.11:g.70463435CA[6], NC_000004.11:g.70463435CA[7], NC_000004.11:g.70463435CA[8], NC_000004.11:g.70463435CA[9], NC_000004.11:g.70463435CA[11], NC_000004.11:g.70463435CA[12], NC_000004.11:g.70463435CA[13], NC_000004.11:g.70463435CA[14], NC_000004.11:g.70463435CA[15]

Select item 149100701116.

rs1491007011 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 4:69618239 (GRCh38)
4:70483957 (GRCh37)
Canonical SPDI:: NC_000004.12:69618237:TAT:T
Gene:: UGT2A1 (Varview), UGT2A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000043/6 (GnomAD)
-=0.000071/1 (TOMMO)
HGVS:: NC_000004.12:g.69618239_69618240del, NC_000004.11:g.70483957_70483958del

Select item 149099215717.

rs1490992157 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:69605630 (GRCh38)
4:70471348 (GRCh37)
Canonical SPDI:: NC_000004.12:69605629:A:G
Gene:: UGT2A1 (Varview), UGT2A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.00007/1 (ALFA)
HGVS:: NC_000004.12:g.69605630A>G, NC_000004.11:g.70471348A>G

Select item 149096774518.

rs1490967745 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 4:69607311 (GRCh38)
4:70473029 (GRCh37)
Canonical SPDI:: NC_000004.12:69607310:A:C
Gene:: UGT2A1 (Varview), UGT2A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.69607311A>C, NC_000004.11:g.70473029A>C

Select item 149095950619.

rs1490959506 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 4:69637327 (GRCh38)
4:70503045 (GRCh37)
Canonical SPDI:: NC_000004.12:69637326:G:T
Gene:: UGT2A1 (Varview), UGT2A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.69637327G>T, NC_000004.11:g.70503045G>T

Select item 149092334420.

rs1490923344 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 4:69603964 (GRCh38)
4:70469682 (GRCh37)
Canonical SPDI:: NC_000004.12:69603963:G:T
Gene:: UGT2A1 (Varview), UGT2A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.00004/5 (GnomAD)
HGVS:: NC_000004.12:g.69603964G>T, NC_000004.11:g.70469682G>T

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