SNP Links for Gene (Select 54490) - SNP

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Select item 14909936431.

rs1490993643 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 4:69281762 (GRCh38)
4:70147480 (GRCh37)
Canonical SPDI:: NC_000004.12:69281761:G:A,NC_000004.12:69281761:G:C
Gene:: UGT2B28 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000031/4 (GnomAD)
HGVS:: NC_000004.12:g.69281762G>A, NC_000004.12:g.69281762G>C, NC_000004.11:g.70147480G>A, NC_000004.11:g.70147480G>C, NG_029527.1:g.6264G>A, NG_029527.1:g.6264G>C

Select item 14904082142.

rs1490408214 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 4:69287384 (GRCh38)
4:70153102 (GRCh37)
Canonical SPDI:: NC_000004.12:69287383:C:G
Gene:: UGT2B28 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00031/2 (1000Genomes)
G=0.0007/2 (KOREAN)
G=0.0036/59 (TOMMO)
HGVS:: NC_000004.12:g.69287384C>G, NC_000004.11:g.70153102C>G, NG_029527.1:g.11886C>G

Select item 14902630903.

rs1490263090 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:69279805 (GRCh38)
4:70145523 (GRCh37)
Canonical SPDI:: NC_000004.12:69279804:A:G
Gene:: UGT2B28 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.69279805A>G, NC_000004.11:g.70145523A>G, NG_029527.1:g.4307A>G

Select item 14898831854.

rs1489883185 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:69286252 (GRCh38)
4:70151970 (GRCh37)
Canonical SPDI:: NC_000004.12:69286251:T:C
Gene:: UGT2B28 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000015/2 (GnomAD)
HGVS:: NC_000004.12:g.69286252T>C, NC_000004.11:g.70151970T>C, NG_029527.1:g.10754T>C

Select item 14898711905.

rs1489871190 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:69283117 (GRCh38)
4:70148835 (GRCh37)
Canonical SPDI:: NC_000004.12:69283116:G:A
Gene:: UGT2B28 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000031/4 (GnomAD)
HGVS:: NC_000004.12:g.69283117G>A, NC_000004.11:g.70148835G>A, NG_029527.1:g.7619G>A

Select item 14898467576.

rs1489846757 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:69292389 (GRCh38)
4:70158107 (GRCh37)
Canonical SPDI:: NC_000004.12:69292388:G:A
Gene:: UGT2B28 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/1 (GnomAD)
HGVS:: NC_000004.12:g.69292389G>A, NC_000004.11:g.70158107G>A, NG_029527.1:g.16891G>A

Select item 14896020497.

rs1489602049 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:69293334 (GRCh38)
4:70159052 (GRCh37)
Canonical SPDI:: NC_000004.12:69293333:T:C
Gene:: UGT2B28 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000004.12:g.69293334T>C, NC_000004.11:g.70159052T>C, NG_029527.1:g.17836T>C

Select item 14895938428.

rs1489593842 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 4:69283300 (GRCh38)
4:70149018 (GRCh37)
Canonical SPDI:: NC_000004.12:69283299:C:G
Gene:: UGT2B28 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000038/10 (TOPMED)
G=0.000364/6 (TOMMO)
G=0.000704/2 (KOREAN)
G=0.002796/5 (Korea1K)
G=0.004717/1 (Vietnamese)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000004.12:g.69283300C>G, NC_000004.11:g.70149018C>G, NG_029527.1:g.7802C>G

Select item 14894895189.

rs1489489518 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:69288862 (GRCh38)
4:70154580 (GRCh37)
Canonical SPDI:: NC_000004.12:69288861:G:A
Gene:: UGT2B28 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.69288862G>A, NC_000004.11:g.70154580G>A, NG_029527.1:g.13364G>A

Select item 148905819810.

rs1489058198 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:69288223 (GRCh38)
4:70153941 (GRCh37)
Canonical SPDI:: NC_000004.12:69288222:A:G
Gene:: UGT2B28 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/1 (GnomAD)
HGVS:: NC_000004.12:g.69288223A>G, NC_000004.11:g.70153941A>G, NG_029527.1:g.12725A>G

Select item 148895714511.

rs1488957145 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:69280526 (GRCh38)
4:70146244 (GRCh37)
Canonical SPDI:: NC_000004.12:69280525:T:C
Gene:: UGT2B28 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000008/1 (GnomAD)
HGVS:: NC_000004.12:g.69280526T>C, NC_000004.11:g.70146244T>C, NG_029527.1:g.5028T>C, NM_053039.2:c.26T>C, NM_053039.1:c.26T>C, NM_001207004.2:c.26T>C, NM_001207004.1:c.26T>C, XM_017008303.2:c.26T>C, XM_017008303.1:c.26T>C, NP_444267.1:p.Leu9Pro, NP_001193933.1:p.Leu9Pro, XP_016863792.1:p.Leu9Pro

Select item 148890418512.

rs1488904185 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 4:69279724 (GRCh38)
4:70145442 (GRCh37)
Canonical SPDI:: NC_000004.12:69279723:T:G
Gene:: UGT2B28 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000008/1 (GnomAD)
HGVS:: NC_000004.12:g.69279724T>G, NC_000004.11:g.70145442T>G, NG_029527.1:g.4226T>G

Select item 148873968813.

rs1488739688 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 4:69282998 (GRCh38)
4:70148716 (GRCh37)
Canonical SPDI:: NC_000004.12:69282997:G:C
Gene:: UGT2B28 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/1 (GnomAD)
HGVS:: NC_000004.12:g.69282998G>C, NC_000004.11:g.70148716G>C, NG_029527.1:g.7500G>C

Select item 148852527614.

rs1488525276 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:69282020 (GRCh38)
4:70147738 (GRCh37)
Canonical SPDI:: NC_000004.12:69282019:A:G
Gene:: UGT2B28 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000008/1 (GnomAD)
HGVS:: NC_000004.12:g.69282020A>G, NC_000004.11:g.70147738A>G, NG_029527.1:g.6522A>G

Select item 148837920215.

rs1488379202 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:69287391 (GRCh38)
4:70153109 (GRCh37)
Canonical SPDI:: NC_000004.12:69287390:G:A
Gene:: UGT2B28 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000054/7 (GnomAD)
A=0.000076/20 (TOPMED)
HGVS:: NC_000004.12:g.69287391G>A, NC_000004.11:g.70153109G>A, NG_029527.1:g.11893G>A

Select item 148808100416.

rs1488081004 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:69287786 (GRCh38)
4:70153504 (GRCh37)
Canonical SPDI:: NC_000004.12:69287785:G:A
Gene:: UGT2B28 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.69287786G>A, NC_000004.11:g.70153504G>A, NG_029527.1:g.12288G>A

Select item 148800039717.

rs1488000397 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:69294475 (GRCh38)
4:70160193 (GRCh37)
Canonical SPDI:: NC_000004.12:69294474:C:A
Gene:: UGT2B28 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/1 (GnomAD)
HGVS:: NC_000004.12:g.69294475C>A, NC_000004.11:g.70160193C>A, NG_029527.1:g.18977C>A

Select item 148773535718.

rs1487735357 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 4:69284774 (GRCh38)
4:70150492 (GRCh37)
Canonical SPDI:: NC_000004.12:69284773:T:G
Gene:: UGT2B28 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000004.12:g.69284774T>G, NC_000004.11:g.70150492T>G, NG_029527.1:g.9276T>G

Select item 148763528219.

rs1487635282 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:69294023 (GRCh38)
4:70159741 (GRCh37)
Canonical SPDI:: NC_000004.12:69294022:C:T
Gene:: UGT2B28 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/1 (GnomAD)
HGVS:: NC_000004.12:g.69294023C>T, NC_000004.11:g.70159741C>T, NG_029527.1:g.18525C>T

Select item 148754653620.

rs1487546536 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 4:69281685 (GRCh38)
4:70147403 (GRCh37)
Canonical SPDI:: NC_000004.12:69281684:G:T
Gene:: UGT2B28 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000031/4 (GnomAD)
HGVS:: NC_000004.12:g.69281685G>T, NC_000004.11:g.70147403G>T, NG_029527.1:g.6187G>T

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