SNP Links for Gene (Select 10941) - SNP

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 20 of 16335

<< First< Prev

Page of 817

Next >Last >>

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 149099779317.

rs1490997793 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:69654232 (GRCh38)
4:70519950 (GRCh37)
Canonical SPDI:: NC_000004.12:69654231:T:C
Gene:: UGT2A1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
C=0.000035/1 (TOMMO)
HGVS:: NC_000004.12:g.69654232T>C, NC_000004.11:g.70519950T>C

Select item 149099215718.

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 149096774519.

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 149095950620.

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

<< First< Prev

Page of 817

Next >Last >>

Supplemental Content

Filters: Manage Filters

Find related data

Recent activity

Clear Turn Off Turn On

SNP Links for Gene (Select 10941) (16335)
SNP

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to: