SNP Links for Gene (Select 101929145) - SNP

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Select item 14909597061.

rs1490959706 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:73507249 (GRCh38)
10:75267007 (GRCh37)
Canonical SPDI:: NC_000010.11:73507248:A:G
Gene:: USP54 (Varview), PPP3CB-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.73507249A>G, NC_000010.10:g.75267007A>G, NR_132103.1:n.3035A>G, NR_132104.1:n.2562A>G

Select item 14903484172.

rs1490348417 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:73498927 (GRCh38)
10:75258685 (GRCh37)
Canonical SPDI:: NC_000010.11:73498926:G:A
Gene:: USP54 (Varview), PPP3CB-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.73498927G>A, NC_000010.10:g.75258685G>A, NM_152586.4:c.4757C>T, NM_152586.3:c.4757C>T, NR_135249.2:n.5012C>T, NR_135249.1:n.5020C>T, NM_001350995.2:c.4466C>T, NM_001350995.1:c.4466C>T, NR_146997.2:n.4749C>T, NR_146997.1:n.4757C>T, NM_001320437.2:c.4571C>T, NM_001320437.1:c.4571C>T, NR_146998.2:n.4608C>T, NR_146998.1:n.4616C>T, NR_135250.2:n.4141C>T, NR_135250.1:n.4141C>T, NM_001391941.1:c.4823C>T, NM_001391956.1:c.4757C>T, NM_001378209.1:c.4586C>T, NM_001378208.1:c.4586C>T, NM_001391954.1:c.4586C>T, NM_001391952.1:c.4616C>T, NM_001391955.1:c.4586C>T, NM_001391945.1:c.4586C>T, NR_165442.1:n.5153C>T, NM_001391953.1:c.4757C>T, NR_165443.1:n.4916C>T, NM_001391946.1:c.4586C>T, NM_001391950.1:c.4445C>T, NM_001391949.1:c.4616C>T, NM_001378210.1:c.4586C>T, NM_001391948.1:c.4586C>T, NM_001391942.1:c.4466C>T, NM_001391947.1:c.4445C>T, NM_001391951.1:c.4307C>T, NP_689799.3:p.Ser1586Phe, NP_001337924.1:p.Ser1489Phe, NP_001307366.1:p.Ser1524Phe, NP_001378870.1:p.Ser1608Phe, NP_001378885.1:p.Ser1586Phe, NP_001365138.1:p.Ser1529Phe, NP_001365137.1:p.Ser1529Phe, NP_001378883.1:p.Ser1529Phe, NP_001378881.1:p.Ser1539Phe, NP_001378884.1:p.Ser1529Phe, NP_001378874.1:p.Ser1529Phe, NP_001378882.1:p.Ser1586Phe, NP_001378875.1:p.Ser1529Phe, NP_001378879.1:p.Ser1482Phe, NP_001378878.1:p.Ser1539Phe, NP_001365139.1:p.Ser1529Phe, NP_001378877.1:p.Ser1529Phe, NP_001378871.1:p.Ser1489Phe, NP_001378876.1:p.Ser1482Phe, NP_001378880.1:p.Ser1436Phe

Select item 14903231373.

rs1490323137 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 10:73497833 (GRCh38)
10:75257591 (GRCh37)
Canonical SPDI:: NC_000010.11:73497832:C:A,NC_000010.11:73497832:C:T
Gene:: PPP3CB (Varview), USP54 (Varview), PPP3CB-AS1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000010.11:g.73497833C>A, NC_000010.11:g.73497833C>T, NC_000010.10:g.75257591C>A, NC_000010.10:g.75257591C>T, NM_152586.4:c.*796G>T, NM_152586.4:c.*796G>A, NM_152586.3:c.*796G>T, NM_152586.3:c.*796G>A, NR_135249.2:n.6106G>T, NR_135249.2:n.6106G>A, NR_135249.1:n.6114G>T, NR_135249.1:n.6114G>A, NM_001350995.2:c.*796G>T, NM_001350995.2:c.*796G>A, NM_001350995.1:c.*796G>T, NM_001350995.1:c.*796G>A, NR_146997.2:n.5843G>T, NR_146997.2:n.5843G>A, NR_146997.1:n.5851G>T, NR_146997.1:n.5851G>A, NM_001320437.2:c.*796G>T, NM_001320437.2:c.*796G>A, NM_001320437.1:c.*796G>T, NM_001320437.1:c.*796G>A, NR_146998.2:n.5702G>T, NR_146998.2:n.5702G>A, NR_146998.1:n.5710G>T, NR_146998.1:n.5710G>A, NR_135250.2:n.5235G>T, NR_135250.2:n.5235G>A, NR_135250.1:n.5235G>T, NR_135250.1:n.5235G>A, NM_001391941.1:c.*796G>T, NM_001391941.1:c.*796G>A, NM_001391956.1:c.*796G>T, NM_001391956.1:c.*796G>A, NM_001378209.1:c.*796G>T, NM_001378209.1:c.*796G>A, NM_001378208.1:c.*796G>T, NM_001378208.1:c.*796G>A, NM_001391954.1:c.*796G>T, NM_001391954.1:c.*796G>A, NM_001391952.1:c.*796G>T, NM_001391952.1:c.*796G>A, NM_001391955.1:c.*796G>T, NM_001391955.1:c.*796G>A, NM_001391945.1:c.*796G>T, NM_001391945.1:c.*796G>A, NR_165442.1:n.6247G>T, NR_165442.1:n.6247G>A, NM_001391953.1:c.*796G>T, NM_001391953.1:c.*796G>A, NR_165443.1:n.6010G>T, NR_165443.1:n.6010G>A, NM_001391946.1:c.*796G>T, NM_001391946.1:c.*796G>A, NM_001391950.1:c.*796G>T, NM_001391950.1:c.*796G>A, NM_001391949.1:c.*796G>T, NM_001391949.1:c.*796G>A, NM_001378210.1:c.*796G>T, NM_001378210.1:c.*796G>A, NM_001391948.1:c.*796G>T, NM_001391948.1:c.*796G>A, NM_001391942.1:c.*796G>T, NM_001391942.1:c.*796G>A, NM_001391947.1:c.*796G>T, NM_001391947.1:c.*796G>A, NM_001391951.1:c.*796G>T, NM_001391951.1:c.*796G>A

Select item 14898147474.

rs1489814747 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:73507168 (GRCh38)
10:75266926 (GRCh37)
Canonical SPDI:: NC_000010.11:73507167:T:C
Gene:: USP54 (Varview), PPP3CB-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.73507168T>C, NC_000010.10:g.75266926T>C, NR_132103.1:n.2954T>C, NR_132104.1:n.2481T>C

Select item 14894198825.

rs1489419882 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 10:73495282 (GRCh38)
10:75255040 (GRCh37)
Canonical SPDI:: NC_000010.11:73495281:G:C
Gene:: PPP3CB (Varview), PPP3CB-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.73495282G>C, NC_000010.10:g.75255040G>C

Select item 14893707326.

rs1489370732 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:73495986 (GRCh38)
10:75255744 (GRCh37)
Canonical SPDI:: NC_000010.11:73495985:G:A
Gene:: PPP3CB (Varview), PPP3CB-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.73495986G>A, NC_000010.10:g.75255744G>A, NM_021132.4:c.-97C>T, NM_021132.3:c.-97C>T, NM_021132.2:c.-97C>T, NM_001142353.3:c.-97C>T, NM_001142353.2:c.-97C>T, NM_001142353.1:c.-97C>T, NM_001142354.3:c.-97C>T, NM_001142354.2:c.-97C>T, NM_001142354.1:c.-97C>T, XM_005269944.2:c.-97C>T, XM_005269944.1:c.-97C>T, NM_001289969.2:c.-474C>T, NM_001289969.1:c.-474C>T, NM_001289968.2:c.-97C>T, NM_001289968.1:c.-97C>T, XM_047425430.1:c.-474C>T, XM_047425426.1:c.-97C>T, XM_047425427.1:c.-97C>T

Select item 14888927957.

rs1488892795 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:73505503 (GRCh38)
10:75265261 (GRCh37)
Canonical SPDI:: NC_000010.11:73505502:C:T
Gene:: USP54 (Varview), PPP3CB-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000010.11:g.73505503C>T, NC_000010.10:g.75265261C>T, NR_132103.1:n.1289C>T, NR_132104.1:n.816C>T

Select item 14888418448.

rs1488841844 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:73504179 (GRCh38)
10:75263937 (GRCh37)
Canonical SPDI:: NC_000010.11:73504178:C:T
Gene:: USP54 (Varview), PPP3CB-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000010.11:g.73504179C>T, NC_000010.10:g.75263937C>T

Select item 14888054779.

rs1488805477 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:73503072 (GRCh38)
10:75262830 (GRCh37)
Canonical SPDI:: NC_000010.11:73503071:T:C
Gene:: USP54 (Varview), PPP3CB-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.73503072T>C, NC_000010.10:g.75262830T>C

Select item 148831243010.

rs1488312430 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:73496748 (GRCh38)
10:75256506 (GRCh37)
Canonical SPDI:: NC_000010.11:73496747:A:G
Gene:: PPP3CB (Varview), PPP3CB-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.73496748A>G, NC_000010.10:g.75256506A>G

Select item 148824925111.

rs1488249251 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:73502924 (GRCh38)
10:75262682 (GRCh37)
Canonical SPDI:: NC_000010.11:73502923:A:G
Gene:: USP54 (Varview), PPP3CB-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000054/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000010.11:g.73502924A>G, NC_000010.10:g.75262682A>G

Select item 148820407812.

rs1488204078 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 10:73500145 (GRCh38)
10:75259903 (GRCh37)
Canonical SPDI:: NC_000010.11:73500144:C:A
Gene:: USP54 (Varview), PPP3CB-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000026/7 (TOPMED)
HGVS:: NC_000010.11:g.73500145C>A, NC_000010.10:g.75259903C>A

Select item 148806780513.

rs1488067805 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 10:73495113 (GRCh38)
10:75254871 (GRCh37)
Canonical SPDI:: NC_000010.11:73495111:AAA:A
Gene:: PPP3CB (Varview), PPP3CB-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000224/1 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000035/1 (TOMMO)
-=0.000223/1 (Estonian)
HGVS:: NC_000010.11:g.73495113_73495114del, NC_000010.10:g.75254871_75254872del

Select item 148804531914.

rs1488045319 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAG>- [Show Flanks]
Chromosome:: 10:73504395 (GRCh38)
10:75264153 (GRCh37)
Canonical SPDI:: NC_000010.11:73504391:AAGAAG:AAG
Gene:: USP54 (Varview), PPP3CB-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: AAGAAG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.73504392AAG[1], NC_000010.10:g.75264150AAG[1]

Select item 148787587915.

rs1487875879 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:73504699 (GRCh38)
10:75264457 (GRCh37)
Canonical SPDI:: NC_000010.11:73504698:A:G
Gene:: USP54 (Varview), PPP3CB-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.0002/1 (ALFA)
G=0.0002/1 (Estonian)
HGVS:: NC_000010.11:g.73504699A>G, NC_000010.10:g.75264457A>G

Select item 148773523516.

rs1487735235 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:73496422 (GRCh38)
10:75256180 (GRCh37)
Canonical SPDI:: NC_000010.11:73496421:T:C
Gene:: PPP3CB (Varview), PPP3CB-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.73496422T>C, NC_000010.10:g.75256180T>C, NR_132103.1:n.347T>C, NR_132104.1:n.347T>C

Select item 148697312517.

rs1486973125 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 10:73501034 (GRCh38)
10:75260792 (GRCh37)
Canonical SPDI:: NC_000010.11:73501033:T:G
Gene:: USP54 (Varview), PPP3CB-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.73501034T>G, NC_000010.10:g.75260792T>G

Select item 148689681518.

rs1486896815 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:73503521 (GRCh38)
10:75263279 (GRCh37)
Canonical SPDI:: NC_000010.11:73503520:A:G
Gene:: USP54 (Varview), PPP3CB-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.73503521A>G, NC_000010.10:g.75263279A>G

Select item 148681479019.

rs1486814790 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 10:73506808 (GRCh38)
10:75266566 (GRCh37)
Canonical SPDI:: NC_000010.11:73506807:T:G
Gene:: USP54 (Varview), PPP3CB-AS1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000045/12 (TOPMED)
G=0.000064/9 (GnomAD)
HGVS:: NC_000010.11:g.73506808T>G, NC_000010.10:g.75266566T>G, NR_132103.1:n.2594T>G, NR_132104.1:n.2121T>G

Select item 148674813920.

rs1486748139 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:73502146 (GRCh38)
10:75261904 (GRCh37)
Canonical SPDI:: NC_000010.11:73502145:A:G
Gene:: USP54 (Varview), PPP3CB-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.73502146A>G, NC_000010.10:g.75261904A>G

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