SNP Links for Protein (Select 291575154) - SNP

Links from Protein

Items: 1 to 20 of 303

<< First< Prev

Page of 16

Next >Last >>

Select item 14868707571.

rs1486870757 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:177455425 (GRCh38)
5:176882426 (GRCh37)
Canonical SPDI:: NC_000005.10:177455424:C:T
Gene:: PRR7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.00001/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.177455425C>T, NC_000005.9:g.176882426C>T, NG_074197.1:g.218C>T, NM_030567.5:c.358C>T, NM_030567.4:c.358C>T, NM_001174102.3:c.358C>T, NM_001174102.2:c.358C>T, NM_001174102.1:c.358C>T, NM_001174101.2:c.358C>T, NM_001174101.1:c.358C>T, NM_001375593.1:c.358C>T, NM_001375594.1:c.358C>T, NP_085044.2:p.His120Tyr, NP_001167573.1:p.His120Tyr, NP_001167572.1:p.His120Tyr, NP_001362522.1:p.His120Tyr, NP_001362523.1:p.His120Tyr

Select item 14861170642.

rs1486117064 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:177455082 (GRCh38)
5:176882083 (GRCh37)
Canonical SPDI:: NC_000005.10:177455081:G:A
Gene:: PRR7 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.177455082G>A, NC_000005.9:g.176882083G>A, NM_030567.5:c.15G>A, NM_030567.4:c.15G>A, NM_001174102.3:c.15G>A, NM_001174102.2:c.15G>A, NM_001174102.1:c.15G>A, NM_001174101.2:c.15G>A, NM_001174101.1:c.15G>A, NM_001375593.1:c.15G>A, NM_001375594.1:c.15G>A

Select item 14853681203.

rs1485368120 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 5:177455970 (GRCh38)
5:176882971 (GRCh37)
Canonical SPDI:: NC_000005.10:177455969:C:G
Gene:: PRR7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000005.10:g.177455970C>G, NC_000005.9:g.176882971C>G, NM_030567.5:c.674C>G, NM_030567.4:c.674C>G, NM_001174102.3:c.674C>G, NM_001174102.2:c.674C>G, NM_001174102.1:c.674C>G, NM_001174101.2:c.674C>G, NM_001174101.1:c.674C>G, NM_001375593.1:c.674C>G, NM_001375594.1:c.674C>G, NP_085044.2:p.Pro225Arg, NP_001167573.1:p.Pro225Arg, NP_001167572.1:p.Pro225Arg, NP_001362522.1:p.Pro225Arg, NP_001362523.1:p.Pro225Arg

Select item 14816290934.

rs1481629093 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 5:177455106 (GRCh38)
5:176882107 (GRCh37)
Canonical SPDI:: NC_000005.10:177455105:C:G,NC_000005.10:177455105:C:T
Gene:: PRR7 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.177455106C>G, NC_000005.10:g.177455106C>T, NC_000005.9:g.176882107C>G, NC_000005.9:g.176882107C>T, NM_030567.5:c.39C>G, NM_030567.5:c.39C>T, NM_030567.4:c.39C>G, NM_030567.4:c.39C>T, NM_001174102.3:c.39C>G, NM_001174102.3:c.39C>T, NM_001174102.2:c.39C>G, NM_001174102.2:c.39C>T, NM_001174102.1:c.39C>G, NM_001174102.1:c.39C>T, NM_001174101.2:c.39C>G, NM_001174101.2:c.39C>T, NM_001174101.1:c.39C>G, NM_001174101.1:c.39C>T, NM_001375593.1:c.39C>G, NM_001375593.1:c.39C>T, NM_001375594.1:c.39C>G, NM_001375594.1:c.39C>T, NP_085044.2:p.Cys13Trp, NP_001167573.1:p.Cys13Trp, NP_001167572.1:p.Cys13Trp, NP_001362522.1:p.Cys13Trp, NP_001362523.1:p.Cys13Trp

Select item 14815097565.

rs1481509756 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:177455767 (GRCh38)
5:176882768 (GRCh37)
Canonical SPDI:: NC_000005.10:177455766:G:A
Gene:: PRR7 (Varview)
Functional Consequence:: synonymous_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_000005.10:g.177455767G>A, NC_000005.9:g.176882768G>A, NM_030567.5:c.471G>A, NM_030567.4:c.471G>A, NM_001174102.3:c.471G>A, NM_001174102.2:c.471G>A, NM_001174102.1:c.471G>A, NM_001174101.2:c.471G>A, NM_001174101.1:c.471G>A, NM_001375593.1:c.471G>A, NM_001375594.1:c.471G>A

Select item 14811973796.

rs1481197379 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:177455284 (GRCh38)
5:176882285 (GRCh37)
Canonical SPDI:: NC_000005.10:177455283:G:T
Gene:: PRR7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000005.10:g.177455284G>T, NC_000005.9:g.176882285G>T, NG_074197.1:g.77G>T, NM_030567.5:c.217G>T, NM_030567.4:c.217G>T, NM_001174102.3:c.217G>T, NM_001174102.2:c.217G>T, NM_001174102.1:c.217G>T, NM_001174101.2:c.217G>T, NM_001174101.1:c.217G>T, NM_001375593.1:c.217G>T, NM_001375594.1:c.217G>T, NP_085044.2:p.Ala73Ser, NP_001167573.1:p.Ala73Ser, NP_001167572.1:p.Ala73Ser, NP_001362522.1:p.Ala73Ser, NP_001362523.1:p.Ala73Ser

Select item 14786901427.

rs1478690142 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:177456115 (GRCh38)
5:176883116 (GRCh37)
Canonical SPDI:: NC_000005.10:177456114:C:T
Gene:: DBN1 (Varview), PRR7 (Varview)
Functional Consequence:: downstream_transcript_variant,coding_sequence_variant,synonymous_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000114/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.00005/4 (GnomAD_exomes)
T=0.000343/1 (KOREAN)
HGVS:: NC_000005.10:g.177456115C>T, NC_000005.9:g.176883116C>T, NM_030567.5:c.819C>T, NM_030567.4:c.819C>T, NM_001174102.3:c.819C>T, NM_001174102.2:c.819C>T, NM_001174102.1:c.819C>T, NM_001174101.2:c.819C>T, NM_001174101.1:c.819C>T, NM_001375593.1:c.819C>T, NM_001375594.1:c.819C>T

Select item 14767956778.

rs1476795677 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGCAC>-,GTGCACGTGCAC [Show Flanks]
Chromosome:: 5:177455359 (GRCh38)
5:176882360 (GRCh37)
Canonical SPDI:: NC_000005.10:177455348:GCACGTGCACGTGCAC:GCACGTGCAC,NC_000005.10:177455348:GCACGTGCACGTGCAC:GCACGTGCACGTGCACGTGCAC
Gene:: PRR7 (Varview)
Functional Consequence:: inframe_deletion,inframe_insertion,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GCACGTGCACGTGCACGTGCAC=0./0 (ALFA)
-=0.000008/2 (TOPMED)
GCACGT=0.000011/1 (GnomAD_exomes)
-=0.000312/2 (1000Genomes)
HGVS:: NC_000005.10:g.177455353GTGCAC[1], NC_000005.10:g.177455353GTGCAC[3], NC_000005.9:g.176882354GTGCAC[1], NC_000005.9:g.176882354GTGCAC[3], NG_074197.1:g.146GTGCAC[1], NG_074197.1:g.146GTGCAC[3], NM_030567.5:c.286GTGCAC[1], NM_030567.5:c.286GTGCAC[3], NM_030567.4:c.286GTGCAC[1], NM_030567.4:c.286GTGCAC[3], NM_001174102.3:c.286GTGCAC[1], NM_001174102.3:c.286GTGCAC[3], NM_001174102.2:c.286GTGCAC[1], NM_001174102.2:c.286GTGCAC[3], NM_001174102.1:c.286GTGCAC[1], NM_001174102.1:c.286GTGCAC[3], NM_001174101.2:c.286GTGCAC[1], NM_001174101.2:c.286GTGCAC[3], NM_001174101.1:c.286GTGCAC[1], NM_001174101.1:c.286GTGCAC[3], NM_001375593.1:c.286GTGCAC[1], NM_001375593.1:c.286GTGCAC[3], NM_001375594.1:c.286GTGCAC[1], NM_001375594.1:c.286GTGCAC[3], NP_085044.2:p.96VH[1], NP_085044.2:p.96VH[3], NP_001167573.1:p.96VH[1], NP_001167573.1:p.96VH[3], NP_001167572.1:p.96VH[1], NP_001167572.1:p.96VH[3], NP_001362522.1:p.96VH[1], NP_001362522.1:p.96VH[3], NP_001362523.1:p.96VH[1], NP_001362523.1:p.96VH[3]

Select item 14748738799.

rs1474873879 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:177456067 (GRCh38)
5:176883068 (GRCh37)
Canonical SPDI:: NC_000005.10:177456066:A:G
Gene:: PRR7 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.177456067A>G, NC_000005.9:g.176883068A>G, NM_030567.5:c.771A>G, NM_030567.4:c.771A>G, NM_001174102.3:c.771A>G, NM_001174102.2:c.771A>G, NM_001174102.1:c.771A>G, NM_001174101.2:c.771A>G, NM_001174101.1:c.771A>G, NM_001375593.1:c.771A>G, NM_001375594.1:c.771A>G

Select item 147188711310.

rs1471887113 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:177455355 (GRCh38)
5:176882356 (GRCh37)
Canonical SPDI:: NC_000005.10:177455354:G:A
Gene:: PRR7 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/1 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000005.10:g.177455355G>A, NC_000005.9:g.176882356G>A, NG_074197.1:g.148G>A, NM_030567.5:c.288G>A, NM_030567.4:c.288G>A, NM_001174102.3:c.288G>A, NM_001174102.2:c.288G>A, NM_001174102.1:c.288G>A, NM_001174101.2:c.288G>A, NM_001174101.1:c.288G>A, NM_001375593.1:c.288G>A, NM_001375594.1:c.288G>A

Select item 147011992411.

rs1470119924 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:177455391 (GRCh38)
5:176882392 (GRCh37)
Canonical SPDI:: NC_000005.10:177455390:G:C
Gene:: PRR7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.00001/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.177455391G>C, NC_000005.9:g.176882392G>C, NG_074197.1:g.184G>C, NM_030567.5:c.324G>C, NM_030567.4:c.324G>C, NM_001174102.3:c.324G>C, NM_001174102.2:c.324G>C, NM_001174102.1:c.324G>C, NM_001174101.2:c.324G>C, NM_001174101.1:c.324G>C, NM_001375593.1:c.324G>C, NM_001375594.1:c.324G>C, NP_085044.2:p.Gln108His, NP_001167573.1:p.Gln108His, NP_001167572.1:p.Gln108His, NP_001362522.1:p.Gln108His, NP_001362523.1:p.Gln108His

Select item 146798848512.

rs1467988485 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:177455865 (GRCh38)
5:176882866 (GRCh37)
Canonical SPDI:: NC_000005.10:177455864:G:C
Gene:: PRR7 (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)
HGVS:: NC_000005.10:g.177455865G>C, NC_000005.9:g.176882866G>C, NM_030567.5:c.569G>C, NM_030567.4:c.569G>C, NM_001174102.3:c.569G>C, NM_001174102.2:c.569G>C, NM_001174102.1:c.569G>C, NM_001174101.2:c.569G>C, NM_001174101.1:c.569G>C, NM_001375593.1:c.569G>C, NM_001375594.1:c.569G>C, NP_085044.2:p.Ser190Thr, NP_001167573.1:p.Ser190Thr, NP_001167572.1:p.Ser190Thr, NP_001362522.1:p.Ser190Thr, NP_001362523.1:p.Ser190Thr

Select item 146697636613.

rs1466976366 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:177456055 (GRCh38)
5:176883056 (GRCh37)
Canonical SPDI:: NC_000005.10:177456054:C:T
Gene:: PRR7 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.00001/2 (GnomAD_exomes)
HGVS:: NC_000005.10:g.177456055C>T, NC_000005.9:g.176883056C>T, NM_030567.5:c.759C>T, NM_030567.4:c.759C>T, NM_001174102.3:c.759C>T, NM_001174102.2:c.759C>T, NM_001174102.1:c.759C>T, NM_001174101.2:c.759C>T, NM_001174101.1:c.759C>T, NM_001375593.1:c.759C>T, NM_001375594.1:c.759C>T

Select item 146439021814.

rs1464390218 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:177455794 (GRCh38)
5:176882795 (GRCh37)
Canonical SPDI:: NC_000005.10:177455793:T:C
Gene:: PRR7 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.177455794T>C, NC_000005.9:g.176882795T>C, NM_030567.5:c.498T>C, NM_030567.4:c.498T>C, NM_001174102.3:c.498T>C, NM_001174102.2:c.498T>C, NM_001174102.1:c.498T>C, NM_001174101.2:c.498T>C, NM_001174101.1:c.498T>C, NM_001375593.1:c.498T>C, NM_001375594.1:c.498T>C

Select item 146334872215.

rs1463348722 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:177455303 (GRCh38)
5:176882304 (GRCh37)
Canonical SPDI:: NC_000005.10:177455302:C:T
Gene:: PRR7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000005.10:g.177455303C>T, NC_000005.9:g.176882304C>T, NG_074197.1:g.96C>T, NM_030567.5:c.236C>T, NM_030567.4:c.236C>T, NM_001174102.3:c.236C>T, NM_001174102.2:c.236C>T, NM_001174102.1:c.236C>T, NM_001174101.2:c.236C>T, NM_001174101.1:c.236C>T, NM_001375593.1:c.236C>T, NM_001375594.1:c.236C>T, NP_085044.2:p.Pro79Leu, NP_001167573.1:p.Pro79Leu, NP_001167572.1:p.Pro79Leu, NP_001362522.1:p.Pro79Leu, NP_001362523.1:p.Pro79Leu

Select item 145621001516.

rs1456210015 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 5:177455994 (GRCh38)
5:176882995 (GRCh37)
Canonical SPDI:: NC_000005.10:177455993:C:A
Gene:: PRR7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.177455994C>A, NC_000005.9:g.176882995C>A, NM_030567.5:c.698C>A, NM_030567.4:c.698C>A, NM_001174102.3:c.698C>A, NM_001174102.2:c.698C>A, NM_001174102.1:c.698C>A, NM_001174101.2:c.698C>A, NM_001174101.1:c.698C>A, NM_001375593.1:c.698C>A, NM_001375594.1:c.698C>A, NP_085044.2:p.Ala233Asp, NP_001167573.1:p.Ala233Asp, NP_001167572.1:p.Ala233Asp, NP_001362522.1:p.Ala233Asp, NP_001362523.1:p.Ala233Asp

Select item 145330602317.

rs1453306023 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:177455925 (GRCh38)
5:176882926 (GRCh37)
Canonical SPDI:: NC_000005.10:177455924:A:G
Gene:: PRR7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000066/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000005.10:g.177455925A>G, NC_000005.9:g.176882926A>G, NM_030567.5:c.629A>G, NM_030567.4:c.629A>G, NM_001174102.3:c.629A>G, NM_001174102.2:c.629A>G, NM_001174102.1:c.629A>G, NM_001174101.2:c.629A>G, NM_001174101.1:c.629A>G, NM_001375593.1:c.629A>G, NM_001375594.1:c.629A>G, NP_085044.2:p.Tyr210Cys, NP_001167573.1:p.Tyr210Cys, NP_001167572.1:p.Tyr210Cys, NP_001362522.1:p.Tyr210Cys, NP_001362523.1:p.Tyr210Cys

Select item 145211254818.

rs1452112548 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:177455755 (GRCh38)
5:176882756 (GRCh37)
Canonical SPDI:: NC_000005.10:177455754:C:T
Gene:: PRR7 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.177455755C>T, NC_000005.9:g.176882756C>T, NM_030567.5:c.459C>T, NM_030567.4:c.459C>T, NM_001174102.3:c.459C>T, NM_001174102.2:c.459C>T, NM_001174102.1:c.459C>T, NM_001174101.2:c.459C>T, NM_001174101.1:c.459C>T, NM_001375593.1:c.459C>T, NM_001375594.1:c.459C>T

Select item 144938880119.

rs1449388801 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:177455895 (GRCh38)
5:176882896 (GRCh37)
Canonical SPDI:: NC_000005.10:177455894:G:A
Gene:: PRR7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000023/6 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000005.10:g.177455895G>A, NC_000005.9:g.176882896G>A, NM_030567.5:c.599G>A, NM_030567.4:c.599G>A, NM_001174102.3:c.599G>A, NM_001174102.2:c.599G>A, NM_001174102.1:c.599G>A, NM_001174101.2:c.599G>A, NM_001174101.1:c.599G>A, NM_001375593.1:c.599G>A, NM_001375594.1:c.599G>A, NP_085044.2:p.Ser200Asn, NP_001167573.1:p.Ser200Asn, NP_001167572.1:p.Ser200Asn, NP_001362522.1:p.Ser200Asn, NP_001362523.1:p.Ser200Asn

Select item 144933496120.

rs1449334961 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 5:177455855 (GRCh38)
5:176882856 (GRCh37)
Canonical SPDI:: NC_000005.10:177455854:C:G
Gene:: PRR7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000005.10:g.177455855C>G, NC_000005.9:g.176882856C>G, NM_030567.5:c.559C>G, NM_030567.4:c.559C>G, NM_001174102.3:c.559C>G, NM_001174102.2:c.559C>G, NM_001174102.1:c.559C>G, NM_001174101.2:c.559C>G, NM_001174101.1:c.559C>G, NM_001375593.1:c.559C>G, NM_001375594.1:c.559C>G, NP_085044.2:p.Arg187Gly, NP_001167573.1:p.Arg187Gly, NP_001167572.1:p.Arg187Gly, NP_001362522.1:p.Arg187Gly, NP_001362523.1:p.Arg187Gly

dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 303

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity