SNP Links for Gene (Select 100287441) - SNP

Links from Gene

Items: 1 to 20 of 97

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Select item 14902778261.

rs1490277826 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 4:9259948 (GRCh38)
4:9261674 (GRCh37)
Canonical SPDI:: NC_000004.12:9259947:A:C
Gene:: USP17L20 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000004.12:g.9259948A>C, NC_000004.11:g.9261674A>C

Select item 14850872702.

rs1485087270 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:9259290 (GRCh38)
4:9261016 (GRCh37)
Canonical SPDI:: NC_000004.12:9259289:A:G
Gene:: USP17L20 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000004.12:g.9259290A>G, NC_000004.11:g.9261016A>G, NM_001256861.1:c.1167A>G

Select item 14803235123.

rs1480323512 [Homo sapiens]

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

Select item 14788623254.

rs1478862325 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 4:9259694 (GRCh38)
4:9261420 (GRCh37)
Canonical SPDI:: NC_000004.12:9259693:GGG:GG
Gene:: USP17L20 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
HGVS:: NC_000004.12:g.9259696del, NC_000004.11:g.9261422del, NM_001256861.1:c.1573del, NP_001243790.1:p.Ala525fs

Select item 14771514495.

rs1477151449 [Homo sapiens]

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

Select item 14725974586.

rs1472597458 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 4:9257573 (GRCh38)
4:9259299 (GRCh37)
Canonical SPDI:: NC_000004.12:9257572:C:G
Gene:: USP17L20 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.00017/2 (ALFA)
HGVS:: NC_000004.12:g.9257573C>G, NC_000004.11:g.9259299C>G

Select item 14698021147.

rs1469802114 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 4:9257394 (GRCh38)
4:9259120 (GRCh37)
Canonical SPDI:: NC_000004.12:9257393:T:A
Gene:: USP17L20 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00046/2 (TOMMO)
T=0.5/1 (SGDP_PRJ)
HGVS:: NC_000004.12:g.9257394T>A, NC_000004.11:g.9259120T>A

Select item 14679902938.

rs1467990293 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 4:9259214 (GRCh38)
4:9260940 (GRCh37)
Canonical SPDI:: NC_000004.12:9259213:G:A,NC_000004.12:9259213:G:C
Gene:: USP17L20 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.0465/440 (ALFA)
C=0.083/46 (KOREAN)
HGVS:: NC_000004.12:g.9259214G>A, NC_000004.12:g.9259214G>C, NC_000004.11:g.9260940G>A, NC_000004.11:g.9260940G>C, NM_001256861.1:c.1091G>A, NM_001256861.1:c.1091G>C, NP_001243790.1:p.Ser364Asn, NP_001243790.1:p.Ser364Thr

Select item 14633453909.

rs1463345390 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:9259327 (GRCh38)
4:9261053 (GRCh37)
Canonical SPDI:: NC_000004.12:9259326:C:T
Gene:: USP17L20 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00165/5 (TOMMO)
HGVS:: NC_000004.12:g.9259327C>T, NC_000004.11:g.9261053C>T, NM_001256861.1:c.1204C>T, NP_001243790.1:p.Arg402Ter

Select item 146269079410.

rs1462690794 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:9259569 (GRCh38)
4:9261295 (GRCh37)
Canonical SPDI:: NC_000004.12:9259568:G:A
Gene:: USP17L20 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.00067/8 (ALFA)
HGVS:: NC_000004.12:g.9259569G>A, NC_000004.11:g.9261295G>A, NM_001256861.1:c.1446G>A

Select item 146265474311.

rs1462654743 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:9257638 (GRCh38)
4:9259364 (GRCh37)
Canonical SPDI:: NC_000004.12:9257637:G:A
Gene:: USP17L20 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.08607/1021 (ALFA)
G=0.07895/3 (SGDP_PRJ)
A=0.13149/76 (KOREAN)
HGVS:: NC_000004.12:g.9257638G>A, NC_000004.11:g.9259364G>A

Select item 146035697112.

rs1460356971 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:9259601 (GRCh38)
4:9261327 (GRCh37)
Canonical SPDI:: NC_000004.12:9259600:C:A
Gene:: USP17L20 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00025/3 (ALFA)
A=0.00213/14 (GnomAD)
HGVS:: NC_000004.12:g.9259601C>A, NC_000004.11:g.9261327C>A, NM_001256861.1:c.1478C>A, NP_001243790.1:p.Thr493Asn

Select item 145459226013.

rs1454592260 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:9257372 (GRCh38)
4:9259098 (GRCh37)
Canonical SPDI:: NC_000004.12:9257371:C:A
Gene:: USP17L20 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00027/2 (GnomAD)
HGVS:: NC_000004.12:g.9257372C>A, NC_000004.11:g.9259098C>A

Select item 145412473514.

rs1454124735 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 4:9257451 (GRCh38)
4:9259177 (GRCh37)
Canonical SPDI:: NC_000004.12:9257450:C:A,NC_000004.12:9257450:C:G
Gene:: USP17L20 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00008/1 (ALFA)
G=0.00058/4 (GnomAD)
A=0.00331/8 (KOREAN)
HGVS:: NC_000004.12:g.9257451C>A, NC_000004.12:g.9257451C>G, NC_000004.11:g.9259177C>A, NC_000004.11:g.9259177C>G

Select item 144067859015.

rs1440678590 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 4:9257152 (GRCh38)
4:9258878 (GRCh37)
Canonical SPDI:: NC_000004.12:9257151:A:C
Gene:: USP17L20 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.03085/366 (ALFA)
C=0.00119/2 (TOMMO)
C=0.02606/49 (KOREAN)
A=0.1/1 (SGDP_PRJ)
HGVS:: NC_000004.12:g.9257152A>C, NC_000004.11:g.9258878A>C

Select item 143205566616.

rs1432055666 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 4:9259976 (GRCh38)
4:9261702 (GRCh37)
Canonical SPDI:: NC_000004.12:9259975:C:G
Gene:: USP17L20 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000004.12:g.9259976C>G, NC_000004.11:g.9261702C>G

Select item 143173525317.

rs1431735253 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 4:9257110 (GRCh38)
4:9258836 (GRCh37)
Canonical SPDI:: NC_000004.12:9257109:G:C
Gene:: USP17L20 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000004.12:g.9257110G>C, NC_000004.11:g.9258836G>C

Select item 142548254518.

rs1425482545 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:9259280 (GRCh38)
4:9261006 (GRCh37)
Canonical SPDI:: NC_000004.12:9259279:C:A
Gene:: USP17L20 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000004.12:g.9259280C>A, NC_000004.11:g.9261006C>A, NM_001256861.1:c.1157C>A, NP_001243790.1:p.Ser386Ter

Select item 141994413019.

rs1419944130 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 4:9257676 (GRCh38)
4:9259402 (GRCh37)
Canonical SPDI:: NC_000004.12:9257675:C:G
Gene:: USP17L20 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.00008/1 (ALFA)
G=0.00401/3 (GnomAD)
HGVS:: NC_000004.12:g.9257676C>G, NC_000004.11:g.9259402C>G

Select item 141960417720.

rs1419604177 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 4:9259597 (GRCh38)
4:9261323 (GRCh37)
Canonical SPDI:: NC_000004.12:9259596:A:T
Gene:: USP17L20 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000004.12:g.9259597A>T, NC_000004.11:g.9261323A>T, NM_001256861.1:c.1474A>T, NP_001243790.1:p.Thr492Ser

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