SNP Links for Protein (Select 525343323) - SNP

Links from Protein

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Select item 14870142101.

rs1487014210 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:30061669 (GRCh38)
6:30029446 (GRCh37)
Canonical SPDI:: NC_000006.12:30061668:G:A
Gene:: PPP1R11 (Varview), POLR1H (Varview), ZNRD1ASP (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant,non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.30061669G>A, NC_000006.11:g.30029446G>A, NT_113891.3:g.1541446G>A, NT_113891.2:g.1541552G>A, NT_167248.2:g.1316852G>A, NT_167248.1:g.1322448G>A, NT_167245.2:g.1317591G>A, NT_167245.1:g.1323176G>A, NT_167249.2:g.1360591G>A, NT_167249.1:g.1359889G>A, NT_167246.2:g.1322423G>A, NT_167246.1:g.1328043G>A, NT_167247.2:g.1405762G>A, NT_167247.1:g.1411347G>A, NT_167244.2:g.1319767G>A, NT_167244.1:g.1269683G>A, NM_014596.6:c.145G>A, NM_014596.5:c.145G>A, NM_170783.4:c.145G>A, NM_170783.3:c.145G>A, NM_001278785.2:c.145G>A, NM_001278785.1:c.145G>A, NR_103864.2:n.289G>A, NR_103864.1:n.314G>A, NM_001278786.2:c.145G>A, NM_001278786.1:c.145G>A, XM_047418695.1:c.145G>A, NP_055411.1:p.Asp49Asn, NP_740753.1:p.Asp49Asn, NP_001265714.1:p.Asp49Asn, NP_001265715.1:p.Asp49Asn, XP_047274651.1:p.Asp49Asn

Select item 14734295982.

rs1473429598 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:30061597 (GRCh38)
6:30029374 (GRCh37)
Canonical SPDI:: NC_000006.12:30061596:T:G
Gene:: PPP1R11 (Varview), POLR1H (Varview), ZNRD1ASP (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.30061597T>G, NC_000006.11:g.30029374T>G, NT_113891.3:g.1541374T>G, NT_113891.2:g.1541480T>G, NT_167248.2:g.1316780T>G, NT_167248.1:g.1322376T>G, NT_167245.2:g.1317519T>G, NT_167245.1:g.1323104T>G, NT_167249.2:g.1360519T>G, NT_167249.1:g.1359817T>G, NT_167246.2:g.1322351T>G, NT_167246.1:g.1327971T>G, NT_167247.2:g.1405690T>G, NT_167247.1:g.1411275T>G, NT_167244.2:g.1319695T>G, NT_167244.1:g.1269611T>G, NM_014596.6:c.73T>G, NM_014596.5:c.73T>G, NM_170783.4:c.73T>G, NM_170783.3:c.73T>G, NM_001278786.2:c.73T>G, NM_001278786.1:c.73T>G, NM_001278785.2:c.73T>G, NM_001278785.1:c.73T>G, NR_103864.2:n.217T>G, NR_103864.1:n.242T>G, XM_047418695.1:c.73T>G, NP_055411.1:p.Ser25Ala, NP_740753.1:p.Ser25Ala, NP_001265715.1:p.Ser25Ala, NP_001265714.1:p.Ser25Ala, XP_047274651.1:p.Ser25Ala

Select item 14653130123.

rs1465313012 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:30064677 (GRCh38)
6:30032454 (GRCh37)
Canonical SPDI:: NC_000006.12:30064676:C:T
Gene:: PPP1R11 (Varview), POLR1H (Varview)
Functional Consequence:: non_coding_transcript_variant,stop_gained,genic_upstream_transcript_variant,intron_variant,coding_sequence_variant
HGVS:: NC_000006.12:g.30064677C>T, NC_000006.11:g.30032454C>T, NT_113891.3:g.1544448C>T, NT_113891.2:g.1544554C>T, NT_167248.2:g.1319838C>T, NT_167248.1:g.1325434C>T, NT_167245.2:g.1320593C>T, NT_167245.1:g.1326178C>T, NT_167249.2:g.1363596C>T, NT_167249.1:g.1362894C>T, NT_167246.2:g.1325426C>T, NT_167246.1:g.1331046C>T, NT_167247.2:g.1408767C>T, NT_167247.1:g.1414352C>T, NT_167244.2:g.1322769C>T, NT_167244.1:g.1272685C>T, NM_014596.6:c.361C>T, NM_014596.5:c.361C>T, NM_170783.4:c.361C>T, NM_170783.3:c.361C>T, NM_001278785.2:c.361C>T, NM_001278785.1:c.361C>T, NR_103864.2:n.404C>T, NR_103864.1:n.429C>T, NM_001278786.2:c.361C>T, NM_001278786.1:c.361C>T, XM_047418695.1:c.361C>T, NP_055411.1:p.Gln121Ter, NP_740753.1:p.Gln121Ter, NP_001265714.1:p.Gln121Ter, NP_001265715.1:p.Gln121Ter, XP_047274651.1:p.Gln121Ter

Select item 14574316094.

rs1457431609 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 6:30061534 (GRCh38)
6:30029311 (GRCh37)
Canonical SPDI:: NC_000006.12:30061533:A:C,NC_000006.12:30061533:A:G
Gene:: PPP1R11 (Varview), POLR1H (Varview), ZNRD1ASP (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.30061534A>C, NC_000006.12:g.30061534A>G, NC_000006.11:g.30029311A>C, NC_000006.11:g.30029311A>G, NT_113891.3:g.1541311A>C, NT_113891.3:g.1541311A>G, NT_113891.2:g.1541417A>C, NT_113891.2:g.1541417A>G, NT_167248.2:g.1316717A>C, NT_167248.2:g.1316717A>G, NT_167248.1:g.1322313A>C, NT_167248.1:g.1322313A>G, NT_167245.2:g.1317456A>C, NT_167245.2:g.1317456A>G, NT_167245.1:g.1323041A>C, NT_167245.1:g.1323041A>G, NT_167249.2:g.1360456A>C, NT_167249.2:g.1360456A>G, NT_167249.1:g.1359754A>C, NT_167249.1:g.1359754A>G, NT_167246.2:g.1322288A>C, NT_167246.2:g.1322288A>G, NT_167246.1:g.1327908A>C, NT_167246.1:g.1327908A>G, NT_167247.2:g.1405627A>C, NT_167247.2:g.1405627A>G, NT_167247.1:g.1411212A>C, NT_167247.1:g.1411212A>G, NT_167244.2:g.1319632A>C, NT_167244.2:g.1319632A>G, NT_167244.1:g.1269548A>C, NT_167244.1:g.1269548A>G, NM_014596.6:c.10A>C, NM_014596.6:c.10A>G, NM_014596.5:c.10A>C, NM_014596.5:c.10A>G, NM_170783.4:c.10A>C, NM_170783.4:c.10A>G, NM_170783.3:c.10A>C, NM_170783.3:c.10A>G, NM_001278786.2:c.10A>C, NM_001278786.2:c.10A>G, NM_001278786.1:c.10A>C, NM_001278786.1:c.10A>G, NM_001278785.2:c.10A>C, NM_001278785.2:c.10A>G, NM_001278785.1:c.10A>C, NM_001278785.1:c.10A>G, NR_103864.2:n.154A>C, NR_103864.2:n.154A>G, NR_103864.1:n.179A>C, NR_103864.1:n.179A>G, XM_047418695.1:c.10A>C, XM_047418695.1:c.10A>G, NP_055411.1:p.Met4Leu, NP_055411.1:p.Met4Val, NP_740753.1:p.Met4Leu, NP_740753.1:p.Met4Val, NP_001265715.1:p.Met4Leu, NP_001265715.1:p.Met4Val, NP_001265714.1:p.Met4Leu, NP_001265714.1:p.Met4Val, XP_047274651.1:p.Met4Leu, XP_047274651.1:p.Met4Val

Select item 14564217585.

rs1456421758 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:30062013 (GRCh38)
6:30029790 (GRCh37)
Canonical SPDI:: NC_000006.12:30062012:C:T
Gene:: PPP1R11 (Varview), POLR1H (Varview), ZNRD1ASP (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.30062013C>T, NC_000006.11:g.30029790C>T, NT_113891.3:g.1541790C>T, NT_113891.2:g.1541896C>T, NT_167248.2:g.1317196C>T, NT_167248.1:g.1322792C>T, NT_167245.2:g.1317935C>T, NT_167245.1:g.1323520C>T, NT_167249.2:g.1360935C>T, NT_167249.1:g.1360233C>T, NT_167246.2:g.1322767C>T, NT_167246.1:g.1328387C>T, NT_167247.2:g.1406106C>T, NT_167247.1:g.1411691C>T, NT_167244.2:g.1320111C>T, NT_167244.1:g.1270027C>T, NM_014596.6:c.242C>T, NM_014596.5:c.242C>T, NM_170783.4:c.242C>T, NM_170783.3:c.242C>T, NM_001278786.2:c.242C>T, NM_001278786.1:c.242C>T, NM_001278785.2:c.242C>T, NM_001278785.1:c.242C>T, XM_047418695.1:c.242C>T, NP_055411.1:p.Pro81Leu, NP_740753.1:p.Pro81Leu, NP_001265715.1:p.Pro81Leu, NP_001265714.1:p.Pro81Leu, XP_047274651.1:p.Pro81Leu

Select item 14487715516.

rs1448771551 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:30061985 (GRCh38)
6:30029762 (GRCh37)
Canonical SPDI:: NC_000006.12:30061984:G:A
Gene:: PPP1R11 (Varview), POLR1H (Varview), ZNRD1ASP (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,2KB_upstream_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.30061985G>A, NC_000006.11:g.30029762G>A, NT_113891.3:g.1541762G>A, NT_113891.2:g.1541868G>A, NT_167248.2:g.1317168G>A, NT_167248.1:g.1322764G>A, NT_167245.2:g.1317907G>A, NT_167245.1:g.1323492G>A, NT_167249.2:g.1360907G>A, NT_167249.1:g.1360205G>A, NT_167246.2:g.1322739G>A, NT_167246.1:g.1328359G>A, NT_167247.2:g.1406078G>A, NT_167247.1:g.1411663G>A, NT_167244.2:g.1320083G>A, NT_167244.1:g.1269999G>A, NM_014596.6:c.214G>A, NM_014596.5:c.214G>A, NM_170783.4:c.214G>A, NM_170783.3:c.214G>A, NM_001278786.2:c.214G>A, NM_001278786.1:c.214G>A, NM_001278785.2:c.214G>A, NM_001278785.1:c.214G>A, XM_047418695.1:c.214G>A, NP_055411.1:p.Val72Met, NP_740753.1:p.Val72Met, NP_001265715.1:p.Val72Met, NP_001265714.1:p.Val72Met, XP_047274651.1:p.Val72Met

Select item 14475417547.

rs1447541754 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:30061573 (GRCh38)
6:30029350 (GRCh37)
Canonical SPDI:: NC_000006.12:30061572:C:T
Gene:: PPP1R11 (Varview), POLR1H (Varview), ZNRD1ASP (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.30061573C>T, NC_000006.11:g.30029350C>T, NT_113891.3:g.1541350C>T, NT_113891.2:g.1541456C>T, NT_167248.2:g.1316756C>T, NT_167248.1:g.1322352C>T, NT_167245.2:g.1317495C>T, NT_167245.1:g.1323080C>T, NT_167249.2:g.1360495C>T, NT_167249.1:g.1359793C>T, NT_167246.2:g.1322327C>T, NT_167246.1:g.1327947C>T, NT_167247.2:g.1405666C>T, NT_167247.1:g.1411251C>T, NT_167244.2:g.1319671C>T, NT_167244.1:g.1269587C>T, NM_014596.6:c.49C>T, NM_014596.5:c.49C>T, NM_170783.4:c.49C>T, NM_170783.3:c.49C>T, NM_001278786.2:c.49C>T, NM_001278786.1:c.49C>T, NM_001278785.2:c.49C>T, NM_001278785.1:c.49C>T, NR_103864.2:n.193C>T, NR_103864.1:n.218C>T, XM_047418695.1:c.49C>T

Select item 14378925418.

rs1437892541 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 6:30061927 (GRCh38)
6:30029705 (GRCh37)
Canonical SPDI:: NC_000006.12:30061927:AA:AAA
Gene:: PPP1R11 (Varview), POLR1H (Varview), ZNRD1ASP (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,frameshift_variant,genic_upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: AAA=0./0 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.30061929dup, NC_000006.11:g.30029706dup, NT_113891.3:g.1541706dup, NT_113891.2:g.1541812dup, NT_167248.2:g.1317112dup, NT_167248.1:g.1322708dup, NT_167245.2:g.1317851dup, NT_167245.1:g.1323436dup, NT_167249.2:g.1360851dup, NT_167249.1:g.1360149dup, NT_167246.2:g.1322683dup, NT_167246.1:g.1328303dup, NT_167247.2:g.1406022dup, NT_167247.1:g.1411607dup, NT_167244.2:g.1320027dup, NT_167244.1:g.1269943dup, NM_014596.6:c.158dup, NM_014596.5:c.158dup, NM_170783.4:c.158dup, NM_170783.3:c.158dup, NM_001278786.2:c.158dup, NM_001278786.1:c.158dup, NM_001278785.2:c.158dup, NM_001278785.1:c.158dup, XM_047418695.1:c.158dup, NP_055411.1:p.Val54fs, NP_740753.1:p.Val54fs, NP_001265715.1:p.Val54fs, NP_001265714.1:p.Val54fs, XP_047274651.1:p.Val54fs

Select item 14258978019.

rs1425897801 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:30061618 (GRCh38)
6:30029395 (GRCh37)
Canonical SPDI:: NC_000006.12:30061617:G:A
Gene:: PPP1R11 (Varview), POLR1H (Varview), ZNRD1ASP (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.30061618G>A, NC_000006.11:g.30029395G>A, NT_113891.3:g.1541395G>A, NT_113891.2:g.1541501G>A, NT_167248.2:g.1316801G>A, NT_167248.1:g.1322397G>A, NT_167245.2:g.1317540G>A, NT_167245.1:g.1323125G>A, NT_167249.2:g.1360540G>A, NT_167249.1:g.1359838G>A, NT_167246.2:g.1322372G>A, NT_167246.1:g.1327992G>A, NT_167247.2:g.1405711G>A, NT_167247.1:g.1411296G>A, NT_167244.2:g.1319716G>A, NT_167244.1:g.1269632G>A, NM_014596.6:c.94G>A, NM_014596.5:c.94G>A, NM_170783.4:c.94G>A, NM_170783.3:c.94G>A, NM_001278786.2:c.94G>A, NM_001278786.1:c.94G>A, NM_001278785.2:c.94G>A, NM_001278785.1:c.94G>A, NR_103864.2:n.238G>A, NR_103864.1:n.263G>A, XM_047418695.1:c.94G>A, NP_055411.1:p.Ala32Thr, NP_740753.1:p.Ala32Thr, NP_001265715.1:p.Ala32Thr, NP_001265714.1:p.Ala32Thr, XP_047274651.1:p.Ala32Thr

Select item 141813502910.

rs1418135029 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:30061547 (GRCh38)
6:30029324 (GRCh37)
Canonical SPDI:: NC_000006.12:30061546:A:G
Gene:: PPP1R11 (Varview), POLR1H (Varview), ZNRD1ASP (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.30061547A>G, NC_000006.11:g.30029324A>G, NT_113891.3:g.1541324A>G, NT_113891.2:g.1541430A>G, NT_167248.2:g.1316730A>G, NT_167248.1:g.1322326A>G, NT_167245.2:g.1317469A>G, NT_167245.1:g.1323054A>G, NT_167249.2:g.1360469A>G, NT_167249.1:g.1359767A>G, NT_167246.2:g.1322301A>G, NT_167246.1:g.1327921A>G, NT_167247.2:g.1405640A>G, NT_167247.1:g.1411225A>G, NT_167244.2:g.1319645A>G, NT_167244.1:g.1269561A>G, NM_014596.6:c.23A>G, NM_014596.5:c.23A>G, NM_170783.4:c.23A>G, NM_170783.3:c.23A>G, NM_001278785.2:c.23A>G, NM_001278785.1:c.23A>G, NR_103864.2:n.167A>G, NR_103864.1:n.192A>G, NM_001278786.2:c.23A>G, NM_001278786.1:c.23A>G, XM_047418695.1:c.23A>G, NP_055411.1:p.Asn8Ser, NP_740753.1:p.Asn8Ser, NP_001265714.1:p.Asn8Ser, NP_001265715.1:p.Asn8Ser, XP_047274651.1:p.Asn8Ser

Select item 141794813411.

rs1417948134 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:30061614 (GRCh38)
6:30029391 (GRCh37)
Canonical SPDI:: NC_000006.12:30061613:C:T
Gene:: PPP1R11 (Varview), POLR1H (Varview), ZNRD1ASP (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.30061614C>T, NC_000006.11:g.30029391C>T, NT_113891.3:g.1541391C>T, NT_113891.2:g.1541497C>T, NT_167248.2:g.1316797C>T, NT_167248.1:g.1322393C>T, NT_167245.2:g.1317536C>T, NT_167245.1:g.1323121C>T, NT_167249.2:g.1360536C>T, NT_167249.1:g.1359834C>T, NT_167246.2:g.1322368C>T, NT_167246.1:g.1327988C>T, NT_167247.2:g.1405707C>T, NT_167247.1:g.1411292C>T, NT_167244.2:g.1319712C>T, NT_167244.1:g.1269628C>T, NM_014596.6:c.90C>T, NM_014596.5:c.90C>T, NM_170783.4:c.90C>T, NM_170783.3:c.90C>T, NM_001278786.2:c.90C>T, NM_001278786.1:c.90C>T, NM_001278785.2:c.90C>T, NM_001278785.1:c.90C>T, NR_103864.2:n.234C>T, NR_103864.1:n.259C>T, XM_047418695.1:c.90C>T

Select item 140608170612.

rs1406081706 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:30061542 (GRCh38)
6:30029319 (GRCh37)
Canonical SPDI:: NC_000006.12:30061541:C:T
Gene:: PPP1R11 (Varview), POLR1H (Varview), ZNRD1ASP (Varview)
Functional Consequence:: genic_upstream_transcript_variant,synonymous_variant,2KB_upstream_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
T=0.00006/1 (TOMMO)
HGVS:: NC_000006.12:g.30061542C>T, NC_000006.11:g.30029319C>T, NT_113891.3:g.1541319C>T, NT_113891.2:g.1541425C>T, NT_167248.2:g.1316725C>T, NT_167248.1:g.1322321C>T, NT_167245.2:g.1317464C>T, NT_167245.1:g.1323049C>T, NT_167249.2:g.1360464C>T, NT_167249.1:g.1359762C>T, NT_167246.2:g.1322296C>T, NT_167246.1:g.1327916C>T, NT_167247.2:g.1405635C>T, NT_167247.1:g.1411220C>T, NT_167244.2:g.1319640C>T, NT_167244.1:g.1269556C>T, NM_014596.6:c.18C>T, NM_014596.5:c.18C>T, NM_170783.4:c.18C>T, NM_170783.3:c.18C>T, NM_001278786.2:c.18C>T, NM_001278786.1:c.18C>T, NM_001278785.2:c.18C>T, NM_001278785.1:c.18C>T, NR_103864.2:n.162C>T, NR_103864.1:n.187C>T, XM_047418695.1:c.18C>T

Select item 137807998513.

rs1378079985 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:30061626 (GRCh38)
6:30029403 (GRCh37)
Canonical SPDI:: NC_000006.12:30061625:T:C
Gene:: PPP1R11 (Varview), POLR1H (Varview), ZNRD1ASP (Varview)
Functional Consequence:: synonymous_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.30061626T>C, NC_000006.11:g.30029403T>C, NT_113891.3:g.1541403T>C, NT_113891.2:g.1541509T>C, NT_167248.2:g.1316809T>C, NT_167248.1:g.1322405T>C, NT_167245.2:g.1317548T>C, NT_167245.1:g.1323133T>C, NT_167249.2:g.1360548T>C, NT_167249.1:g.1359846T>C, NT_167246.2:g.1322380T>C, NT_167246.1:g.1328000T>C, NT_167247.2:g.1405719T>C, NT_167247.1:g.1411304T>C, NT_167244.2:g.1319724T>C, NT_167244.1:g.1269640T>C, NM_014596.6:c.102T>C, NM_014596.5:c.102T>C, NM_170783.4:c.102T>C, NM_170783.3:c.102T>C, NM_001278786.2:c.102T>C, NM_001278786.1:c.102T>C, NM_001278785.2:c.102T>C, NM_001278785.1:c.102T>C, NR_103864.2:n.246T>C, NR_103864.1:n.271T>C, XM_047418695.1:c.102T>C

Select item 136751209714.

rs1367512097 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:30061611 (GRCh38)
6:30029388 (GRCh37)
Canonical SPDI:: NC_000006.12:30061610:G:T
Gene:: PPP1R11 (Varview), POLR1H (Varview), ZNRD1ASP (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.30061611G>T, NC_000006.11:g.30029388G>T, NT_113891.3:g.1541388G>T, NT_113891.2:g.1541494G>T, NT_167248.2:g.1316794G>T, NT_167248.1:g.1322390G>T, NT_167245.2:g.1317533G>T, NT_167245.1:g.1323118G>T, NT_167249.2:g.1360533G>T, NT_167249.1:g.1359831G>T, NT_167246.2:g.1322365G>T, NT_167246.1:g.1327985G>T, NT_167247.2:g.1405704G>T, NT_167247.1:g.1411289G>T, NT_167244.2:g.1319709G>T, NT_167244.1:g.1269625G>T, NM_014596.6:c.87G>T, NM_014596.5:c.87G>T, NM_170783.4:c.87G>T, NM_170783.3:c.87G>T, NM_001278786.2:c.87G>T, NM_001278786.1:c.87G>T, NM_001278785.2:c.87G>T, NM_001278785.1:c.87G>T, NR_103864.2:n.231G>T, NR_103864.1:n.256G>T, XM_047418695.1:c.87G>T

Select item 135733019315.

rs1357330193 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:30062253 (GRCh38)
6:30030030 (GRCh37)
Canonical SPDI:: NC_000006.12:30062252:T:C
Gene:: PPP1R11 (Varview), POLR1H (Varview), ZNRD1ASP (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000006.12:g.30062253T>C, NC_000006.11:g.30030030T>C, NT_113891.3:g.1542030T>C, NT_113891.2:g.1542136T>C, NT_167248.2:g.1317436T>C, NT_167248.1:g.1323032T>C, NT_167245.2:g.1318175T>C, NT_167245.1:g.1323760T>C, NT_167249.2:g.1361175T>C, NT_167249.1:g.1360473T>C, NT_167246.2:g.1323007T>C, NT_167246.1:g.1328627T>C, NT_167247.2:g.1406346T>C, NT_167247.1:g.1411931T>C, NT_167244.2:g.1320351T>C, NT_167244.1:g.1270267T>C, NM_014596.6:c.276T>C, NM_014596.5:c.276T>C, NM_170783.4:c.276T>C, NM_170783.3:c.276T>C, NM_001278786.2:c.276T>C, NM_001278786.1:c.276T>C, NM_001278785.2:c.276T>C, NM_001278785.1:c.276T>C, NR_103864.2:n.319T>C, NR_103864.1:n.344T>C, XM_047418695.1:c.276T>C

Select item 134263895816.

rs1342638958 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:30061961 (GRCh38)
6:30029738 (GRCh37)
Canonical SPDI:: NC_000006.12:30061960:C:A
Gene:: PPP1R11 (Varview), POLR1H (Varview), ZNRD1ASP (Varview)
Functional Consequence:: missense_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.30061961C>A, NC_000006.11:g.30029738C>A, NT_113891.3:g.1541738C>A, NT_113891.2:g.1541844C>A, NT_167248.2:g.1317144C>A, NT_167248.1:g.1322740C>A, NT_167245.2:g.1317883C>A, NT_167245.1:g.1323468C>A, NT_167249.2:g.1360883C>A, NT_167249.1:g.1360181C>A, NT_167246.2:g.1322715C>A, NT_167246.1:g.1328335C>A, NT_167247.2:g.1406054C>A, NT_167247.1:g.1411639C>A, NT_167244.2:g.1320059C>A, NT_167244.1:g.1269975C>A, NM_014596.6:c.190C>A, NM_014596.5:c.190C>A, NM_170783.4:c.190C>A, NM_170783.3:c.190C>A, NM_001278785.2:c.190C>A, NM_001278785.1:c.190C>A, NM_001278786.2:c.190C>A, NM_001278786.1:c.190C>A, XM_047418695.1:c.190C>A, NP_055411.1:p.Leu64Met, NP_740753.1:p.Leu64Met, NP_001265714.1:p.Leu64Met, NP_001265715.1:p.Leu64Met, XP_047274651.1:p.Leu64Met

Select item 133199715517.

rs1331997155 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 6:30064692 (GRCh38)
6:30032469 (GRCh37)
Canonical SPDI:: NC_000006.12:30064691:T:A
Gene:: PPP1R11 (Varview), POLR1H (Varview)
Functional Consequence:: missense_variant,intron_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000006.12:g.30064692T>A, NC_000006.11:g.30032469T>A, NT_113891.3:g.1544463T>A, NT_113891.2:g.1544569T>A, NT_167248.2:g.1319853T>A, NT_167248.1:g.1325449T>A, NT_167245.2:g.1320608T>A, NT_167245.1:g.1326193T>A, NT_167249.2:g.1363611T>A, NT_167249.1:g.1362909T>A, NT_167246.2:g.1325441T>A, NT_167246.1:g.1331061T>A, NT_167247.2:g.1408782T>A, NT_167247.1:g.1414367T>A, NT_167244.2:g.1322784T>A, NT_167244.1:g.1272700T>A, NM_014596.6:c.376T>A, NM_014596.5:c.376T>A, NM_170783.4:c.376T>A, NM_170783.3:c.376T>A, NM_001278786.2:c.376T>A, NM_001278786.1:c.376T>A, NM_001278785.2:c.376T>A, NM_001278785.1:c.376T>A, NR_103864.2:n.419T>A, NR_103864.1:n.444T>A, XM_047418695.1:c.376T>A, NP_055411.1:p.Ser126Thr, NP_740753.1:p.Ser126Thr, NP_001265715.1:p.Ser126Thr, NP_001265714.1:p.Ser126Thr, XP_047274651.1:p.Ser126Thr

Select item 132461577218.

rs1324615772 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:30061973 (GRCh38)
6:30029750 (GRCh37)
Canonical SPDI:: NC_000006.12:30061972:A:G
Gene:: PPP1R11 (Varview), POLR1H (Varview), ZNRD1ASP (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.30061973A>G, NC_000006.11:g.30029750A>G, NT_113891.3:g.1541750A>G, NT_113891.2:g.1541856A>G, NT_167248.2:g.1317156A>G, NT_167248.1:g.1322752A>G, NT_167245.2:g.1317895A>G, NT_167245.1:g.1323480A>G, NT_167249.2:g.1360895A>G, NT_167249.1:g.1360193A>G, NT_167246.2:g.1322727A>G, NT_167246.1:g.1328347A>G, NT_167247.2:g.1406066A>G, NT_167247.1:g.1411651A>G, NT_167244.2:g.1320071A>G, NT_167244.1:g.1269987A>G, NM_014596.6:c.202A>G, NM_014596.5:c.202A>G, NM_170783.4:c.202A>G, NM_170783.3:c.202A>G, NM_001278786.2:c.202A>G, NM_001278786.1:c.202A>G, NM_001278785.2:c.202A>G, NM_001278785.1:c.202A>G, XM_047418695.1:c.202A>G, NP_055411.1:p.Met68Val, NP_740753.1:p.Met68Val, NP_001265715.1:p.Met68Val, NP_001265714.1:p.Met68Val, XP_047274651.1:p.Met68Val

Select item 131801903619.

rs1318019036 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:30061924 (GRCh38)
6:30029701 (GRCh37)
Canonical SPDI:: NC_000006.12:30061923:G:A
Gene:: PPP1R11 (Varview), POLR1H (Varview), ZNRD1ASP (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.30061924G>A, NC_000006.11:g.30029701G>A, NT_113891.3:g.1541701G>A, NT_113891.2:g.1541807G>A, NT_167248.2:g.1317107G>A, NT_167248.1:g.1322703G>A, NT_167245.2:g.1317846G>A, NT_167245.1:g.1323431G>A, NT_167249.2:g.1360846G>A, NT_167249.1:g.1360144G>A, NT_167246.2:g.1322678G>A, NT_167246.1:g.1328298G>A, NT_167247.2:g.1406017G>A, NT_167247.1:g.1411602G>A, NT_167244.2:g.1320022G>A, NT_167244.1:g.1269938G>A, NM_014596.6:c.153G>A, NM_014596.5:c.153G>A, NM_170783.4:c.153G>A, NM_170783.3:c.153G>A, NM_001278785.2:c.153G>A, NM_001278785.1:c.153G>A, NM_001278786.2:c.153G>A, NM_001278786.1:c.153G>A, XM_047418695.1:c.153G>A

Select item 130966058820.

rs1309660588 [Homo sapiens]

Variant type:: DELINS
Alleles:: CAGA>- [Show Flanks]
Chromosome:: 6:30062278 (GRCh38)
6:30030055 (GRCh37)
Canonical SPDI:: NC_000006.12:30062273:CAGACAGA:CAGA
Gene:: PPP1R11 (Varview), POLR1H (Varview), ZNRD1ASP (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,coding_sequence_variant,2KB_upstream_variant,frameshift_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CAGACAGA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.30062274CAGA[1], NC_000006.11:g.30030051CAGA[1], NT_113891.3:g.1542051CAGA[1], NT_113891.2:g.1542157CAGA[1], NT_167248.2:g.1317463A>G, NT_167248.2:g.1317461_1317464del, NT_167248.1:g.1323059A>G, NT_167248.1:g.1323057_1323060del, NT_167245.2:g.1318196CAGA[1], NT_167245.1:g.1323781CAGA[1], NT_167249.2:g.1361196CAGA[1], NT_167249.1:g.1360494CAGA[1], NT_167246.2:g.1323028CAGA[1], NT_167246.1:g.1328648CAGA[1], NT_167247.2:g.1406367CAGA[1], NT_167247.1:g.1411952CAGA[1], NT_167244.2:g.1320372CAGA[1], NT_167244.1:g.1270288CAGA[1], NM_014596.6:c.301_304del, NM_014596.5:c.301_304del, NM_170783.4:c.301_304del, NM_170783.3:c.301_304del, NM_001278785.2:c.301_304del, NM_001278785.1:c.301_304del, NR_103864.2:n.340CAGA[1], NR_103864.1:n.365CAGA[1], NM_001278786.2:c.301_304del, NM_001278786.1:c.301_304del, XM_047418695.1:c.301_304del, NP_055411.1:p.Gln101fs, NP_740753.1:p.Gln101fs, NP_001265714.1:p.Gln101fs, NP_001265715.1:p.Gln101fs, XP_047274651.1:p.Gln101fs

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