SNP Links for Protein (Select 1012282595) - SNP

Links from Protein

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Select item 14805821861.

rs1480582186 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:54201587 (GRCh38)
19:54705455 (GRCh37)
Canonical SPDI:: NC_000019.10:54201586:G:A
Gene:: RPS9 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (GnomAD)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.54201587G>A, NW_004166865.1:g.175954G>A, NW_003571061.2:g.176569G>A, NW_003571055.2:g.176569G>A, NW_003571061.1:g.176568G>A, NW_003571059.2:g.176569G>A, NW_003571056.2:g.176569G>A, NW_003571057.2:g.176569G>A, NW_003571058.2:g.176569G>A, NT_187693.1:g.176569G>A, NC_000019.9:g.54705455G>A, NW_003571060.1:g.176559G>A, NW_003571054.1:g.176386G>A, NM_001013.4:c.198G>A, NM_001013.3:c.198G>A, NR_135762.2:n.259G>A, NR_135762.1:n.259G>A, NR_135763.2:n.254G>A, NR_135763.1:n.254G>A, NM_001321702.2:c.198G>A, NM_001321702.1:c.198G>A, NM_001321701.2:c.198G>A, NM_001321701.1:c.198G>A, NM_001321704.2:c.198G>A, NM_001321704.1:c.198G>A, XM_017027112.2:c.198G>A, XM_017027112.1:c.198G>A, NM_001321706.2:c.198G>A, NM_001321706.1:c.198G>A

Select item 14668658152.

rs1466865815 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:54201537 (GRCh38)
19:54705405 (GRCh37)
Canonical SPDI:: NC_000019.10:54201536:C:T
Gene:: RPS9 (Varview)
Functional Consequence:: intron_variant,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 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.54201537C>T, NW_004166865.1:g.175904C>T, NW_003571061.2:g.176519C>T, NW_003571055.2:g.176519C>T, NW_003571061.1:g.176518C>T, NW_003571059.2:g.176519C>T, NW_003571056.2:g.176519C>T, NW_003571057.2:g.176519C>T, NW_003571058.2:g.176519C>T, NT_187693.1:g.176519C>T, NC_000019.9:g.54705405C>T, NW_003571060.1:g.176509C>T, NW_003571054.1:g.176336C>T, NM_001013.4:c.148C>T, NM_001013.3:c.148C>T, NR_135762.2:n.209C>T, NR_135762.1:n.209C>T, NR_135763.2:n.204C>T, NR_135763.1:n.204C>T, NM_001321702.2:c.148C>T, NM_001321702.1:c.148C>T, NM_001321701.2:c.148C>T, NM_001321701.1:c.148C>T, NM_001321704.2:c.148C>T, NM_001321704.1:c.148C>T, XM_017027112.2:c.148C>T, XM_017027112.1:c.148C>T, NM_001321706.2:c.148C>T, NM_001321706.1:c.148C>T

Select item 14507551303.

rs1450755130 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:54201205 (GRCh38)
19:54705073 (GRCh37)
Canonical SPDI:: NC_000019.10:54201204:G:T
Gene:: RPS9 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.54201205G>T, NW_004166865.1:g.175572G>T, NW_003571061.2:g.176187G>T, NW_003571055.2:g.176187G>T, NW_003571061.1:g.176186G>T, NW_003571059.2:g.176187G>T, NW_003571056.2:g.176187G>T, NW_003571057.2:g.176187G>T, NW_003571058.2:g.176187G>T, NT_187693.1:g.176187G>T, NC_000019.9:g.54705073G>T, NW_003571060.1:g.176177G>T, NW_003571054.1:g.176004G>T, NM_001013.4:c.21G>T, NM_001013.3:c.21G>T, NR_135762.2:n.82G>T, NR_135762.1:n.82G>T, NR_135763.2:n.77G>T, NR_135763.1:n.77G>T, NM_001321702.2:c.21G>T, NM_001321702.1:c.21G>T, NM_001321701.2:c.21G>T, NM_001321701.1:c.21G>T, NM_001321704.2:c.21G>T, NM_001321704.1:c.21G>T, NM_001321705.2:c.21G>T, NM_001321705.1:c.21G>T, XM_017027112.2:c.21G>T, XM_017027112.1:c.21G>T, NM_001321706.2:c.21G>T, NM_001321706.1:c.21G>T, NP_001004.2:p.Trp7Cys, NP_001308631.1:p.Trp7Cys, NP_001308630.1:p.Trp7Cys, NP_001308633.1:p.Trp7Cys, NP_001308634.1:p.Trp7Cys, XP_016882601.1:p.Trp7Cys, NP_001308635.1:p.Trp7Cys

Select item 14455072494.

rs1445507249 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:54201600 (GRCh38)
19:54705468 (GRCh37)
Canonical SPDI:: NC_000019.10:54201599:C:G,NC_000019.10:54201599:C:T
Gene:: RPS9 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant,non_coding_transcript_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)
T=0.000007/1 (GnomAD)
G=0.000318/9 (TOMMO)
HGVS:: NC_000019.10:g.54201600C>G, NC_000019.10:g.54201600C>T, NW_004166865.1:g.175967C>G, NW_004166865.1:g.175967C>T, NW_003571061.2:g.176582C>G, NW_003571061.2:g.176582C>T, NW_003571055.2:g.176582C>G, NW_003571055.2:g.176582C>T, NW_003571061.1:g.176581C>G, NW_003571061.1:g.176581C>T, NW_003571059.2:g.176582C>G, NW_003571059.2:g.176582C>T, NW_003571056.2:g.176582C>G, NW_003571056.2:g.176582C>T, NW_003571057.2:g.176582C>G, NW_003571057.2:g.176582C>T, NW_003571058.2:g.176582C>G, NW_003571058.2:g.176582C>T, NT_187693.1:g.176582C>G, NT_187693.1:g.176582C>T, NC_000019.9:g.54705468C>G, NC_000019.9:g.54705468C>T, NW_003571060.1:g.176572C>G, NW_003571060.1:g.176572C>T, NW_003571054.1:g.176399C>G, NW_003571054.1:g.176399C>T, NM_001013.4:c.211C>G, NM_001013.4:c.211C>T, NM_001013.3:c.211C>G, NM_001013.3:c.211C>T, NR_135762.2:n.272C>G, NR_135762.2:n.272C>T, NR_135762.1:n.272C>G, NR_135762.1:n.272C>T, NR_135763.2:n.267C>G, NR_135763.2:n.267C>T, NR_135763.1:n.267C>G, NR_135763.1:n.267C>T, NM_001321702.2:c.211C>G, NM_001321702.2:c.211C>T, NM_001321702.1:c.211C>G, NM_001321702.1:c.211C>T, NM_001321701.2:c.211C>G, NM_001321701.2:c.211C>T, NM_001321701.1:c.211C>G, NM_001321701.1:c.211C>T, NM_001321704.2:c.211C>G, NM_001321704.2:c.211C>T, NM_001321704.1:c.211C>G, NM_001321704.1:c.211C>T, XM_017027112.2:c.211C>G, XM_017027112.2:c.211C>T, XM_017027112.1:c.211C>G, XM_017027112.1:c.211C>T, NM_001321706.2:c.211C>G, NM_001321706.2:c.211C>T, NM_001321706.1:c.211C>G, NM_001321706.1:c.211C>T, NP_001004.2:p.Leu71Val, NP_001308631.1:p.Leu71Val, NP_001308630.1:p.Leu71Val, NP_001308633.1:p.Leu71Val, XP_016882601.1:p.Leu71Val, NP_001308635.1:p.Leu71Val

Select item 14333654065.

rs1433365406 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:54201545 (GRCh38)
19:54705413 (GRCh37)
Canonical SPDI:: NC_000019.10:54201544:G:A
Gene:: RPS9 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,non_coding_transcript_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_000019.10:g.54201545G>A, NW_004166865.1:g.175912G>A, NW_003571061.2:g.176527G>A, NW_003571055.2:g.176527G>A, NW_003571061.1:g.176526G>A, NW_003571059.2:g.176527G>A, NW_003571056.2:g.176527G>A, NW_003571057.2:g.176527G>A, NW_003571058.2:g.176527G>A, NT_187693.1:g.176527G>A, NC_000019.9:g.54705413G>A, NW_003571060.1:g.176517G>A, NW_003571054.1:g.176344G>A, NM_001013.4:c.156G>A, NM_001013.3:c.156G>A, NR_135762.2:n.217G>A, NR_135762.1:n.217G>A, NR_135763.2:n.212G>A, NR_135763.1:n.212G>A, NM_001321702.2:c.156G>A, NM_001321702.1:c.156G>A, NM_001321701.2:c.156G>A, NM_001321701.1:c.156G>A, NM_001321704.2:c.156G>A, NM_001321704.1:c.156G>A, XM_017027112.2:c.156G>A, XM_017027112.1:c.156G>A, NM_001321706.2:c.156G>A, NM_001321706.1:c.156G>A

Select item 14330414896.

rs1433041489 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:54201508 (GRCh38)
19:54705376 (GRCh37)
Canonical SPDI:: NC_000019.10:54201507:A:G
Gene:: RPS9 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.54201508A>G, NW_004166865.1:g.175875A>G, NW_003571061.2:g.176490A>G, NW_003571055.2:g.176490A>G, NW_003571061.1:g.176489A>G, NW_003571059.2:g.176490A>G, NW_003571056.2:g.176490A>G, NW_003571057.2:g.176490A>G, NW_003571058.2:g.176490A>G, NT_187693.1:g.176490A>G, NC_000019.9:g.54705376A>G, NW_003571060.1:g.176480A>G, NW_003571054.1:g.176307A>G, NM_001013.4:c.119A>G, NM_001013.3:c.119A>G, NR_135762.2:n.180A>G, NR_135762.1:n.180A>G, NR_135763.2:n.175A>G, NR_135763.1:n.175A>G, NM_001321702.2:c.119A>G, NM_001321702.1:c.119A>G, NM_001321701.2:c.119A>G, NM_001321701.1:c.119A>G, NM_001321704.2:c.119A>G, NM_001321704.1:c.119A>G, XM_017027112.2:c.119A>G, XM_017027112.1:c.119A>G, NM_001321706.2:c.119A>G, NM_001321706.1:c.119A>G, NP_001004.2:p.Lys40Arg, NP_001308631.1:p.Lys40Arg, NP_001308630.1:p.Lys40Arg, NP_001308633.1:p.Lys40Arg, XP_016882601.1:p.Lys40Arg, NP_001308635.1:p.Lys40Arg

Select item 14057603177.

rs1405760317 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 19:54201203 (GRCh38)
19:54705071 (GRCh37)
Canonical SPDI:: NC_000019.10:54201202:T:A
Gene:: RPS9 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.54201203T>A, NW_004166865.1:g.175570T>A, NW_003571061.2:g.176185T>A, NW_003571055.2:g.176185T>A, NW_003571061.1:g.176184T>A, NW_003571059.2:g.176185T>A, NW_003571056.2:g.176185T>A, NW_003571057.2:g.176185T>A, NW_003571058.2:g.176185T>A, NT_187693.1:g.176185T>A, NC_000019.9:g.54705071T>A, NW_003571060.1:g.176175T>A, NW_003571054.1:g.176002T>A, NM_001013.4:c.19T>A, NM_001013.3:c.19T>A, NR_135762.2:n.80T>A, NR_135762.1:n.80T>A, NR_135763.2:n.75T>A, NR_135763.1:n.75T>A, NM_001321702.2:c.19T>A, NM_001321702.1:c.19T>A, NM_001321701.2:c.19T>A, NM_001321701.1:c.19T>A, NM_001321704.2:c.19T>A, NM_001321704.1:c.19T>A, NM_001321705.2:c.19T>A, NM_001321705.1:c.19T>A, XM_017027112.2:c.19T>A, XM_017027112.1:c.19T>A, NM_001321706.2:c.19T>A, NM_001321706.1:c.19T>A, NP_001004.2:p.Trp7Arg, NP_001308631.1:p.Trp7Arg, NP_001308630.1:p.Trp7Arg, NP_001308633.1:p.Trp7Arg, NP_001308634.1:p.Trp7Arg, XP_016882601.1:p.Trp7Arg, NP_001308635.1:p.Trp7Arg

Select item 14005275038.

rs1400527503 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 19:54201532 (GRCh38)
19:54705400 (GRCh37)
Canonical SPDI:: NC_000019.10:54201531:T:A
Gene:: RPS9 (Varview)
Functional Consequence:: intron_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.54201532T>A, NW_004166865.1:g.175899T>A, NW_003571061.2:g.176514T>A, NW_003571055.2:g.176514T>A, NW_003571061.1:g.176513T>A, NW_003571059.2:g.176514T>A, NW_003571056.2:g.176514T>A, NW_003571057.2:g.176514T>A, NW_003571058.2:g.176514T>A, NT_187693.1:g.176514T>A, NC_000019.9:g.54705400T>A, NW_003571060.1:g.176504T>A, NW_003571054.1:g.176331T>A, NM_001013.4:c.143T>A, NM_001013.3:c.143T>A, NR_135762.2:n.204T>A, NR_135762.1:n.204T>A, NR_135763.2:n.199T>A, NR_135763.1:n.199T>A, NM_001321702.2:c.143T>A, NM_001321702.1:c.143T>A, NM_001321701.2:c.143T>A, NM_001321701.1:c.143T>A, NM_001321704.2:c.143T>A, NM_001321704.1:c.143T>A, XM_017027112.2:c.143T>A, XM_017027112.1:c.143T>A, NM_001321706.2:c.143T>A, NM_001321706.1:c.143T>A, NP_001004.2:p.Phe48Tyr, NP_001308631.1:p.Phe48Tyr, NP_001308630.1:p.Phe48Tyr, NP_001308633.1:p.Phe48Tyr, XP_016882601.1:p.Phe48Tyr, NP_001308635.1:p.Phe48Tyr

Select item 13959202209.

rs1395920220 [Homo sapiens]

Variant type:: INS
Alleles:: ->TGC [Show Flanks]
Chromosome:: 19:54207405 (GRCh38)
19:54711274 (GRCh37)
Canonical SPDI:: NC_000019.10:54207405::TGC
Gene:: RPS9 (Varview)
Functional Consequence:: inframe_indel,inframe_insertion,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGC=0.000447/2 (ALFA)
TGC=0.000014/2 (GnomAD)
TGC=0.000446/2 (Estonian)
HGVS:: NC_000019.10:g.54207405_54207406insTGC, NW_004166865.1:g.181772_181773insTGC, NW_003571061.2:g.182387_182388insTGC, NW_003571055.2:g.182387_182388insTGC, NW_003571061.1:g.182386_182387insTGC, NW_003571059.2:g.182387_182388insTGC, NW_003571056.2:g.182387_182388insTGC, NW_003571057.2:g.182387_182388insTGC, NW_003571058.2:g.182387_182388insTGC, NT_187693.1:g.182387_182388insTGC, NC_000019.9:g.54711273_54711274insTGC, NW_003571060.1:g.182376_182377insTGC, NW_003571054.1:g.182204_182205insTGC, NM_001013.4:c.415_416insTGC, NM_001013.3:c.415_416insTGC, NR_135762.2:n.648_649insTGC, NR_135762.1:n.648_649insTGC, NR_135763.2:n.643_644insTGC, NR_135763.1:n.643_644insTGC, NM_001321702.2:c.415_416insTGC, NM_001321702.1:c.415_416insTGC, NM_001321701.2:c.415_416insTGC, NM_001321701.1:c.415_416insTGC, NM_001321704.2:c.415_416insTGC, NM_001321704.1:c.415_416insTGC, NM_001321705.2:c.292_293insTGC, NM_001321705.1:c.292_293insTGC, XM_017027112.2:c.228_229insTGC, XM_017027112.1:c.228_229insTGC, NM_001321706.2:c.228_229insTGC, NM_001321706.1:c.228_229insTGC, NP_001004.2:p.Lys139delinsMetGln, NP_001308631.1:p.Lys139delinsMetGln, NP_001308630.1:p.Lys139delinsMetGln, NP_001308633.1:p.Lys139delinsMetGln, NP_001308634.1:p.Lys98delinsMetGln, XP_016882601.1:p.Ser77_Arg78insCys, NP_001308635.1:p.Ser77_Arg78insCys

Select item 138347919010.

rs1383479190 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:54201605 (GRCh38)
19:54705473 (GRCh37)
Canonical SPDI:: NC_000019.10:54201604:C:T
Gene:: RPS9 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.54201605C>T, NW_004166865.1:g.175972C>T, NW_003571061.2:g.176587C>T, NW_003571055.2:g.176587C>T, NW_003571061.1:g.176586C>T, NW_003571059.2:g.176587C>T, NW_003571056.2:g.176587C>T, NW_003571057.2:g.176587C>T, NW_003571058.2:g.176587C>T, NT_187693.1:g.176587C>T, NC_000019.9:g.54705473C>T, NW_003571060.1:g.176577C>T, NW_003571054.1:g.176404C>T, NM_001013.4:c.216C>T, NM_001013.3:c.216C>T, NR_135762.2:n.277C>T, NR_135762.1:n.277C>T, NR_135763.2:n.272C>T, NR_135763.1:n.272C>T, NM_001321702.2:c.216C>T, NM_001321702.1:c.216C>T, NM_001321701.2:c.216C>T, NM_001321701.1:c.216C>T, NM_001321704.2:c.216C>T, NM_001321704.1:c.216C>T, XM_017027112.2:c.216C>T, XM_017027112.1:c.216C>T, NM_001321706.2:c.216C>T, NM_001321706.1:c.216C>T

Select item 137192508911.

rs1371925089 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 19:54201493 (GRCh38)
19:54705361 (GRCh37)
Canonical SPDI:: NC_000019.10:54201492:A:T
Gene:: RPS9 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.54201493A>T, NW_004166865.1:g.175860A>T, NW_003571061.2:g.176475A>T, NW_003571055.2:g.176475A>T, NW_003571061.1:g.176474A>T, NW_003571059.2:g.176475A>T, NW_003571056.2:g.176475A>T, NW_003571057.2:g.176475A>T, NW_003571058.2:g.176475A>T, NT_187693.1:g.176475A>T, NC_000019.9:g.54705361A>T, NW_003571060.1:g.176465A>T, NW_003571054.1:g.176292A>T, NM_001013.4:c.104A>T, NM_001013.3:c.104A>T, NR_135762.2:n.165A>T, NR_135762.1:n.165A>T, NR_135763.2:n.160A>T, NR_135763.1:n.160A>T, NM_001321702.2:c.104A>T, NM_001321702.1:c.104A>T, NM_001321701.2:c.104A>T, NM_001321701.1:c.104A>T, NM_001321704.2:c.104A>T, NM_001321704.1:c.104A>T, XM_017027112.2:c.104A>T, XM_017027112.1:c.104A>T, NM_001321706.2:c.104A>T, NM_001321706.1:c.104A>T, NP_001004.2:p.Tyr35Phe, NP_001308631.1:p.Tyr35Phe, NP_001308630.1:p.Tyr35Phe, NP_001308633.1:p.Tyr35Phe, XP_016882601.1:p.Tyr35Phe, NP_001308635.1:p.Tyr35Phe

Select item 135575160912.

rs1355751609 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:54201255 (GRCh38)
19:54705123 (GRCh37)
Canonical SPDI:: NC_000019.10:54201254:G:A
Gene:: RPS9 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000224/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000019.10:g.54201255G>A, NW_004166865.1:g.175622G>A, NW_003571061.2:g.176237G>A, NW_003571055.2:g.176237G>A, NW_003571061.1:g.176236G>A, NW_003571059.2:g.176237G>A, NW_003571056.2:g.176237G>A, NW_003571057.2:g.176237G>A, NW_003571058.2:g.176237G>A, NT_187693.1:g.176237G>A, NC_000019.9:g.54705123G>A, NW_003571060.1:g.176227G>A, NW_003571054.1:g.176054G>A, NM_001013.4:c.71G>A, NM_001013.3:c.71G>A, NR_135762.2:n.132G>A, NR_135762.1:n.132G>A, NR_135763.2:n.127G>A, NR_135763.1:n.127G>A, NM_001321702.2:c.71G>A, NM_001321702.1:c.71G>A, NM_001321701.2:c.71G>A, NM_001321701.1:c.71G>A, NM_001321704.2:c.71G>A, NM_001321704.1:c.71G>A, NM_001321705.2:c.71G>A, NM_001321705.1:c.71G>A, XM_017027112.2:c.71G>A, XM_017027112.1:c.71G>A, NM_001321706.2:c.71G>A, NM_001321706.1:c.71G>A, NP_001004.2:p.Arg24His, NP_001308631.1:p.Arg24His, NP_001308630.1:p.Arg24His, NP_001308633.1:p.Arg24His, NP_001308634.1:p.Arg24His, XP_016882601.1:p.Arg24His, NP_001308635.1:p.Arg24His

Select item 134708645213.

rs1347086452 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:54201232 (GRCh38)
19:54705100 (GRCh37)
Canonical SPDI:: NC_000019.10:54201231:G:T
Gene:: RPS9 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.54201232G>T, NW_004166865.1:g.175599G>T, NW_003571061.2:g.176214G>T, NW_003571055.2:g.176214G>T, NW_003571061.1:g.176213G>T, NW_003571059.2:g.176214G>T, NW_003571056.2:g.176214G>T, NW_003571057.2:g.176214G>T, NW_003571058.2:g.176214G>T, NT_187693.1:g.176214G>T, NC_000019.9:g.54705100G>T, NW_003571060.1:g.176204G>T, NW_003571054.1:g.176031G>T, NM_001013.4:c.48G>T, NM_001013.3:c.48G>T, NR_135762.2:n.109G>T, NR_135762.1:n.109G>T, NR_135763.2:n.104G>T, NR_135763.1:n.104G>T, NM_001321702.2:c.48G>T, NM_001321702.1:c.48G>T, NM_001321701.2:c.48G>T, NM_001321701.1:c.48G>T, NM_001321704.2:c.48G>T, NM_001321704.1:c.48G>T, NM_001321705.2:c.48G>T, NM_001321705.1:c.48G>T, XM_017027112.2:c.48G>T, XM_017027112.1:c.48G>T, NM_001321706.2:c.48G>T, NM_001321706.1:c.48G>T

Select item 134653163514.

rs1346531635 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:54201535 (GRCh38)
19:54705403 (GRCh37)
Canonical SPDI:: NC_000019.10:54201534:C:T
Gene:: RPS9 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000029/4 (GnomAD)
T=0.00003/8 (TOPMED)
HGVS:: NC_000019.10:g.54201535C>T, NW_004166865.1:g.175902C>T, NW_003571061.2:g.176517C>T, NW_003571055.2:g.176517C>T, NW_003571061.1:g.176516C>T, NW_003571059.2:g.176517C>T, NW_003571056.2:g.176517C>T, NW_003571057.2:g.176517C>T, NW_003571058.2:g.176517C>T, NT_187693.1:g.176517C>T, NC_000019.9:g.54705403C>T, NW_003571060.1:g.176507C>T, NW_003571054.1:g.176334C>T, NM_001013.4:c.146C>T, NM_001013.3:c.146C>T, NR_135762.2:n.207C>T, NR_135762.1:n.207C>T, NR_135763.2:n.202C>T, NR_135763.1:n.202C>T, NM_001321702.2:c.146C>T, NM_001321702.1:c.146C>T, NM_001321701.2:c.146C>T, NM_001321701.1:c.146C>T, NM_001321704.2:c.146C>T, NM_001321704.1:c.146C>T, XM_017027112.2:c.146C>T, XM_017027112.1:c.146C>T, NM_001321706.2:c.146C>T, NM_001321706.1:c.146C>T, NP_001004.2:p.Thr49Ile, NP_001308631.1:p.Thr49Ile, NP_001308630.1:p.Thr49Ile, NP_001308633.1:p.Thr49Ile, XP_016882601.1:p.Thr49Ile, NP_001308635.1:p.Thr49Ile

Select item 133785225515.

rs1337852255 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:54201199 (GRCh38)
19:54705067 (GRCh37)
Canonical SPDI:: NC_000019.10:54201198:G:A
Gene:: RPS9 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.54201199G>A, NW_004166865.1:g.175566G>A, NW_003571061.2:g.176181G>A, NW_003571055.2:g.176181G>A, NW_003571061.1:g.176180G>A, NW_003571059.2:g.176181G>A, NW_003571056.2:g.176181G>A, NW_003571057.2:g.176181G>A, NW_003571058.2:g.176181G>A, NT_187693.1:g.176181G>A, NC_000019.9:g.54705067G>A, NW_003571060.1:g.176171G>A, NW_003571054.1:g.175998G>A, NM_001013.4:c.15G>A, NM_001013.3:c.15G>A, NR_135762.2:n.76G>A, NR_135762.1:n.76G>A, NR_135763.2:n.71G>A, NR_135763.1:n.71G>A, NM_001321702.2:c.15G>A, NM_001321702.1:c.15G>A, NM_001321701.2:c.15G>A, NM_001321701.1:c.15G>A, NM_001321704.2:c.15G>A, NM_001321704.1:c.15G>A, NM_001321705.2:c.15G>A, NM_001321705.1:c.15G>A, XM_017027112.2:c.15G>A, XM_017027112.1:c.15G>A, NM_001321706.2:c.15G>A, NM_001321706.1:c.15G>A

Select item 133180534216.

rs1331805342 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:54201529 (GRCh38)
19:54705397 (GRCh37)
Canonical SPDI:: NC_000019.10:54201528:A:G
Gene:: RPS9 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000066/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000019.10:g.54201529A>G, NW_004166865.1:g.175896A>G, NW_003571061.2:g.176511A>G, NW_003571055.2:g.176511A>G, NW_003571061.1:g.176510A>G, NW_003571059.2:g.176511A>G, NW_003571056.2:g.176511A>G, NW_003571057.2:g.176511A>G, NW_003571058.2:g.176511A>G, NT_187693.1:g.176511A>G, NC_000019.9:g.54705397A>G, NW_003571060.1:g.176501A>G, NW_003571054.1:g.176328A>G, NM_001013.4:c.140A>G, NM_001013.3:c.140A>G, NR_135762.2:n.201A>G, NR_135762.1:n.201A>G, NR_135763.2:n.196A>G, NR_135763.1:n.196A>G, NM_001321702.2:c.140A>G, NM_001321702.1:c.140A>G, NM_001321701.2:c.140A>G, NM_001321701.1:c.140A>G, NM_001321704.2:c.140A>G, NM_001321704.1:c.140A>G, XM_017027112.2:c.140A>G, XM_017027112.1:c.140A>G, NM_001321706.2:c.140A>G, NM_001321706.1:c.140A>G, NP_001004.2:p.Lys47Arg, NP_001308631.1:p.Lys47Arg, NP_001308630.1:p.Lys47Arg, NP_001308633.1:p.Lys47Arg, XP_016882601.1:p.Lys47Arg, NP_001308635.1:p.Lys47Arg

Select item 133007966117.

rs1330079661 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:54201557 (GRCh38)
19:54705425 (GRCh37)
Canonical SPDI:: NC_000019.10:54201556:C:A
Gene:: RPS9 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant
HGVS:: NC_000019.10:g.54201557C>A, NW_004166865.1:g.175924C>A, NW_003571061.2:g.176539C>A, NW_003571055.2:g.176539C>A, NW_003571061.1:g.176538C>A, NW_003571059.2:g.176539C>A, NW_003571056.2:g.176539C>A, NW_003571057.2:g.176539C>A, NW_003571058.2:g.176539C>A, NT_187693.1:g.176539C>A, NC_000019.9:g.54705425C>A, NW_003571060.1:g.176529C>A, NW_003571054.1:g.176356C>A, NM_001013.4:c.168C>A, NM_001013.3:c.168C>A, NR_135762.2:n.229C>A, NR_135762.1:n.229C>A, NR_135763.2:n.224C>A, NR_135763.1:n.224C>A, NM_001321702.2:c.168C>A, NM_001321702.1:c.168C>A, NM_001321701.2:c.168C>A, NM_001321701.1:c.168C>A, NM_001321704.2:c.168C>A, NM_001321704.1:c.168C>A, XM_017027112.2:c.168C>A, XM_017027112.1:c.168C>A, NM_001321706.2:c.168C>A, NM_001321706.1:c.168C>A

Select item 129862232818.

rs1298622328 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:54201524 (GRCh38)
19:54705392 (GRCh37)
Canonical SPDI:: NC_000019.10:54201523:G:A
Gene:: RPS9 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000056/2 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.54201524G>A, NW_004166865.1:g.175891G>A, NW_003571061.2:g.176506G>A, NW_003571055.2:g.176506G>A, NW_003571061.1:g.176505G>A, NW_003571059.2:g.176506G>A, NW_003571056.2:g.176506G>A, NW_003571057.2:g.176506G>A, NW_003571058.2:g.176506G>A, NT_187693.1:g.176506G>A, NC_000019.9:g.54705392G>A, NW_003571060.1:g.176496G>A, NW_003571054.1:g.176323G>A, NM_001013.4:c.135G>A, NM_001013.3:c.135G>A, NR_135762.2:n.196G>A, NR_135762.1:n.196G>A, NR_135763.2:n.191G>A, NR_135763.1:n.191G>A, NM_001321702.2:c.135G>A, NM_001321702.1:c.135G>A, NM_001321701.2:c.135G>A, NM_001321701.1:c.135G>A, NM_001321704.2:c.135G>A, NM_001321704.1:c.135G>A, XM_017027112.2:c.135G>A, XM_017027112.1:c.135G>A, NM_001321706.2:c.135G>A, NM_001321706.1:c.135G>A

Select item 129492787819.

rs1294927878 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:54201195 (GRCh38)
19:54705063 (GRCh37)
Canonical SPDI:: NC_000019.10:54201194:C:T
Gene:: RPS9 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.54201195C>T, NW_004166865.1:g.175562C>T, NW_003571061.2:g.176177C>T, NW_003571055.2:g.176177C>T, NW_003571061.1:g.176176C>T, NW_003571059.2:g.176177C>T, NW_003571056.2:g.176177C>T, NW_003571057.2:g.176177C>T, NW_003571058.2:g.176177C>T, NT_187693.1:g.176177C>T, NC_000019.9:g.54705063C>T, NW_003571060.1:g.176167C>T, NW_003571054.1:g.175994C>T, NM_001013.4:c.11C>T, NM_001013.3:c.11C>T, NR_135762.2:n.72C>T, NR_135762.1:n.72C>T, NR_135763.2:n.67C>T, NR_135763.1:n.67C>T, NM_001321702.2:c.11C>T, NM_001321702.1:c.11C>T, NM_001321701.2:c.11C>T, NM_001321701.1:c.11C>T, NM_001321704.2:c.11C>T, NM_001321704.1:c.11C>T, NM_001321705.2:c.11C>T, NM_001321705.1:c.11C>T, XM_017027112.2:c.11C>T, XM_017027112.1:c.11C>T, NM_001321706.2:c.11C>T, NM_001321706.1:c.11C>T, NP_001004.2:p.Ala4Val, NP_001308631.1:p.Ala4Val, NP_001308630.1:p.Ala4Val, NP_001308633.1:p.Ala4Val, NP_001308634.1:p.Ala4Val, XP_016882601.1:p.Ala4Val, NP_001308635.1:p.Ala4Val

Select item 127108353420.

rs1271083534 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:54201564 (GRCh38)
19:54705432 (GRCh37)
Canonical SPDI:: NC_000019.10:54201563:G:C
Gene:: RPS9 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.54201564G>C, NW_004166865.1:g.175931G>C, NW_003571061.2:g.176546G>C, NW_003571055.2:g.176546G>C, NW_003571061.1:g.176545G>C, NW_003571059.2:g.176546G>C, NW_003571056.2:g.176546G>C, NW_003571057.2:g.176546G>C, NW_003571058.2:g.176546G>C, NT_187693.1:g.176546G>C, NC_000019.9:g.54705432G>C, NW_003571060.1:g.176536G>C, NW_003571054.1:g.176363G>C, NM_001013.4:c.175G>C, NM_001013.3:c.175G>C, NR_135762.2:n.236G>C, NR_135762.1:n.236G>C, NR_135763.2:n.231G>C, NR_135763.1:n.231G>C, NM_001321702.2:c.175G>C, NM_001321702.1:c.175G>C, NM_001321701.2:c.175G>C, NM_001321701.1:c.175G>C, NM_001321704.2:c.175G>C, NM_001321704.1:c.175G>C, XM_017027112.2:c.175G>C, XM_017027112.1:c.175G>C, NM_001321706.2:c.175G>C, NM_001321706.1:c.175G>C, NP_001004.2:p.Glu59Gln, NP_001308631.1:p.Glu59Gln, NP_001308630.1:p.Glu59Gln, NP_001308633.1:p.Glu59Gln, XP_016882601.1:p.Glu59Gln, NP_001308635.1:p.Glu59Gln

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