SNP Links for Protein (Select 34996527) - SNP

Links from Protein

Items: 1 to 20 of 174

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Select item 14852437121.

rs1485243712 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:39529573 (GRCh38)
22:39925578 (GRCh37)
Canonical SPDI:: NC_000022.11:39529572:C:T
Gene:: RPS19BP1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0.000094/2 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.39529573C>T, NC_000022.10:g.39925578C>T, NM_194326.4:c.330G>A, NM_194326.3:c.330G>A, NM_194326.2:c.330G>A, NR_130151.2:n.431G>A, NR_130151.1:n.538G>A

Select item 14789399792.

rs1478939979 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 22:39532722 (GRCh38)
22:39928727 (GRCh37)
Canonical SPDI:: NC_000022.11:39532721:A:T
Gene:: RPS19BP1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000022.11:g.39532722A>T, NC_000022.10:g.39928727A>T, NM_194326.4:c.17T>A, NM_194326.3:c.17T>A, NM_194326.2:c.17T>A, NR_130151.2:n.27T>A, NR_130151.1:n.134T>A, NP_919307.1:p.Leu6Gln

Select item 14773027373.

rs1477302737 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:39532465 (GRCh38)
22:39928470 (GRCh37)
Canonical SPDI:: NC_000022.11:39532464:C:T
Gene:: RPS19BP1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.39532465C>T, NC_000022.10:g.39928470C>T, NM_194326.4:c.111G>A, NM_194326.3:c.111G>A, NM_194326.2:c.111G>A, NR_130151.2:n.121G>A, NR_130151.1:n.228G>A

Select item 14707038534.

rs1470703853 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 22:39532444 (GRCh38)
22:39928449 (GRCh37)
Canonical SPDI:: NC_000022.11:39532443:G:C
Gene:: RPS19BP1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000022.11:g.39532444G>C, NC_000022.10:g.39928449G>C, NM_194326.4:c.132C>G, NM_194326.3:c.132C>G, NM_194326.2:c.132C>G, NR_130151.2:n.142C>G, NR_130151.1:n.249C>G

Select item 14701903665.

rs1470190366 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:39532445 (GRCh38)
22:39928450 (GRCh37)
Canonical SPDI:: NC_000022.11:39532444:G:A
Gene:: RPS19BP1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.39532445G>A, NC_000022.10:g.39928450G>A, NM_194326.4:c.131C>T, NM_194326.3:c.131C>T, NM_194326.2:c.131C>T, NR_130151.2:n.141C>T, NR_130151.1:n.248C>T, NP_919307.1:p.Ala44Val

Select item 14623736786.

rs1462373678 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 22:39532729 (GRCh38)
22:39928734 (GRCh37)
Canonical SPDI:: NC_000022.11:39532728:C:A,NC_000022.11:39532728:C:T
Gene:: RPS19BP1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
A=0.000358/6 (TOMMO)
A=0.000546/1 (Korea1K)
HGVS:: NC_000022.11:g.39532729C>A, NC_000022.11:g.39532729C>T, NC_000022.10:g.39928734C>A, NC_000022.10:g.39928734C>T, NM_194326.4:c.10G>T, NM_194326.4:c.10G>A, NM_194326.3:c.10G>T, NM_194326.3:c.10G>A, NM_194326.2:c.10G>T, NM_194326.2:c.10G>A, NR_130151.2:n.20G>T, NR_130151.2:n.20G>A, NR_130151.1:n.127G>T, NR_130151.1:n.127G>A, NP_919307.1:p.Ala4Ser, NP_919307.1:p.Ala4Thr

Select item 14552545677.

rs1455254567 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:39529910 (GRCh38)
22:39925915 (GRCh37)
Canonical SPDI:: NC_000022.11:39529909:G:A
Gene:: RPS19BP1 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.39529910G>A, NC_000022.10:g.39925915G>A, NM_194326.4:c.189C>T, NM_194326.3:c.189C>T, NM_194326.2:c.189C>T, NR_130151.2:n.290C>T, NR_130151.1:n.397C>T

Select item 14504330518.

rs1450433051 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:39529839 (GRCh38)
22:39925844 (GRCh37)
Canonical SPDI:: NC_000022.11:39529838:G:A
Gene:: RPS19BP1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.39529839G>A, NC_000022.10:g.39925844G>A, NM_194326.4:c.260C>T, NM_194326.3:c.260C>T, NM_194326.2:c.260C>T, NR_130151.2:n.361C>T, NR_130151.1:n.468C>T, NP_919307.1:p.Ala87Val

Select item 14440313609.

rs1444031360 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:39529534 (GRCh38)
22:39925539 (GRCh37)
Canonical SPDI:: NC_000022.11:39529533:C:T
Gene:: RPS19BP1 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.0002/1 (ALFA)
T=0.0002/1 (Estonian)
HGVS:: NC_000022.11:g.39529534C>T, NC_000022.10:g.39925539C>T, NM_194326.4:c.369G>A, NM_194326.3:c.369G>A, NM_194326.2:c.369G>A, NR_130151.2:n.470G>A, NR_130151.1:n.577G>A

Select item 144335966810.

rs1443359668 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:39529888 (GRCh38)
22:39925893 (GRCh37)
Canonical SPDI:: NC_000022.11:39529887:G:A
Gene:: RPS19BP1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_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_000022.11:g.39529888G>A, NC_000022.10:g.39925893G>A, NM_194326.4:c.211C>T, NM_194326.3:c.211C>T, NM_194326.2:c.211C>T, NR_130151.2:n.312C>T, NR_130151.1:n.419C>T, NP_919307.1:p.His71Tyr

Select item 144232513811.

rs1442325138 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 22:39532692 (GRCh38)
22:39928697 (GRCh37)
Canonical SPDI:: NC_000022.11:39532691:G:A,NC_000022.11:39532691:G:C
Gene:: RPS19BP1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.39532692G>A, NC_000022.11:g.39532692G>C, NC_000022.10:g.39928697G>A, NC_000022.10:g.39928697G>C, NM_194326.4:c.47C>T, NM_194326.4:c.47C>G, NM_194326.3:c.47C>T, NM_194326.3:c.47C>G, NM_194326.2:c.47C>T, NM_194326.2:c.47C>G, NR_130151.2:n.57C>T, NR_130151.2:n.57C>G, NR_130151.1:n.164C>T, NR_130151.1:n.164C>G, NP_919307.1:p.Ser16Phe, NP_919307.1:p.Ser16Cys

Select item 144085040012.

rs1440850400 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:39532454 (GRCh38)
22:39928459 (GRCh37)
Canonical SPDI:: NC_000022.11:39532453:G:A
Gene:: RPS19BP1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000047/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.39532454G>A, NC_000022.10:g.39928459G>A, NM_194326.4:c.122C>T, NM_194326.3:c.122C>T, NM_194326.2:c.122C>T, NR_130151.2:n.132C>T, NR_130151.1:n.239C>T, NP_919307.1:p.Ala41Val

Select item 142866200813.

rs1428662008 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 22:39532456 (GRCh38)
22:39928461 (GRCh37)
Canonical SPDI:: NC_000022.11:39532455:C:A,NC_000022.11:39532455:C:T
Gene:: RPS19BP1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.39532456C>A, NC_000022.11:g.39532456C>T, NC_000022.10:g.39928461C>A, NC_000022.10:g.39928461C>T, NM_194326.4:c.120G>T, NM_194326.4:c.120G>A, NM_194326.3:c.120G>T, NM_194326.3:c.120G>A, NM_194326.2:c.120G>T, NM_194326.2:c.120G>A, NR_130151.2:n.130G>T, NR_130151.2:n.130G>A, NR_130151.1:n.237G>T, NR_130151.1:n.237G>A, NP_919307.1:p.Lys40Asn

Select item 142055982614.

rs1420559826 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:39532720 (GRCh38)
22:39928725 (GRCh37)
Canonical SPDI:: NC_000022.11:39532719:G:A
Gene:: RPS19BP1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000022.11:g.39532720G>A, NC_000022.10:g.39928725G>A, NM_194326.4:c.19C>T, NM_194326.3:c.19C>T, NM_194326.2:c.19C>T, NR_130151.2:n.29C>T, NR_130151.1:n.136C>T, NP_919307.1:p.Arg7Trp

Select item 139641366715.

rs1396413667 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:39532471 (GRCh38)
22:39928476 (GRCh37)
Canonical SPDI:: NC_000022.11:39532470:C:T
Gene:: RPS19BP1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.39532471C>T, NC_000022.10:g.39928476C>T, NM_194326.4:c.105G>A, NM_194326.3:c.105G>A, NM_194326.2:c.105G>A, NR_130151.2:n.115G>A, NR_130151.1:n.222G>A

Select item 139405940616.

rs1394059406 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 22:39532399 (GRCh38)
22:39928404 (GRCh37)
Canonical SPDI:: NC_000022.11:39532398:T:G
Gene:: RPS19BP1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.39532399T>G, NC_000022.10:g.39928404T>G, NM_194326.4:c.177A>C, NM_194326.3:c.177A>C, NM_194326.2:c.177A>C, NR_130151.2:n.187A>C, NR_130151.1:n.294A>C

Select item 137829658617.

rs1378296586 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:39529574 (GRCh38)
22:39925579 (GRCh37)
Canonical SPDI:: NC_000022.11:39529573:T:C
Gene:: RPS19BP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.39529574T>C, NC_000022.10:g.39925579T>C, NM_194326.4:c.329A>G, NM_194326.3:c.329A>G, NM_194326.2:c.329A>G, NR_130151.2:n.430A>G, NR_130151.1:n.537A>G, NP_919307.1:p.Lys110Arg

Select item 137302438618.

rs1373024386 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 22:39532405 (GRCh38)
22:39928410 (GRCh37)
Canonical SPDI:: NC_000022.11:39532404:C:G,NC_000022.11:39532404:C:T
Gene:: RPS19BP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.39532405C>G, NC_000022.11:g.39532405C>T, NC_000022.10:g.39928410C>G, NC_000022.10:g.39928410C>T, NM_194326.4:c.171G>C, NM_194326.4:c.171G>A, NM_194326.3:c.171G>C, NM_194326.3:c.171G>A, NM_194326.2:c.171G>C, NM_194326.2:c.171G>A, NR_130151.2:n.181G>C, NR_130151.2:n.181G>A, NR_130151.1:n.288G>C, NR_130151.1:n.288G>A, NP_919307.1:p.Lys57Asn

Select item 136489640519.

rs1364896405 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:39532695 (GRCh38)
22:39928700 (GRCh37)
Canonical SPDI:: NC_000022.11:39532694:G:A
Gene:: RPS19BP1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
A=0.000022/3 (GnomAD_exomes)
HGVS:: NC_000022.11:g.39532695G>A, NC_000022.10:g.39928700G>A, NM_194326.4:c.44C>T, NM_194326.3:c.44C>T, NM_194326.2:c.44C>T, NR_130151.2:n.54C>T, NR_130151.1:n.161C>T, NP_919307.1:p.Ala15Val

Select item 135953128320.

rs1359531283 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:39529608 (GRCh38)
22:39925613 (GRCh37)
Canonical SPDI:: NC_000022.11:39529607:G:A
Gene:: RPS19BP1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000022.11:g.39529608G>A, NC_000022.10:g.39925613G>A, NM_194326.4:c.295C>T, NM_194326.3:c.295C>T, NM_194326.2:c.295C>T, NR_130151.2:n.396C>T, NR_130151.1:n.503C>T, NP_919307.1:p.Arg99Trp

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