SNP Links for Protein (Select 341604770) - SNP

Links from Protein

Items: 1 to 20 of 229

<< First< Prev

Page of 12

Next >Last >>

Select item 14904682941.

rs1490468294 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:89561297 (GRCh38)
16:89627705 (GRCh37)
Canonical SPDI:: NC_000016.10:89561296:G:A
Gene:: RPL13 (Varview), SNORD68 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
HGVS:: NC_000016.10:g.89561297G>A, NC_000016.9:g.89627705G>A, NM_000977.4:c.175G>A, NM_000977.3:c.175G>A, NM_033251.2:c.175G>A, NM_001243130.1:c.175G>A, NM_001243131.1:c.175G>A, NP_000968.2:p.Val59Met, NP_150254.1:p.Val59Met, NP_001230060.1:p.Val59Met

Select item 14879622322.

rs1487962232 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:89561290 (GRCh38)
16:89627698 (GRCh37)
Canonical SPDI:: NC_000016.10:89561289:G:A
Gene:: RPL13 (Varview), SNORD68 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,synonymous_variant
HGVS:: NC_000016.10:g.89561290G>A, NC_000016.9:g.89627698G>A, NM_000977.4:c.168G>A, NM_000977.3:c.168G>A, NM_033251.2:c.168G>A, NM_001243130.1:c.168G>A, NM_001243131.1:c.168G>A

Select item 14807264413.

rs1480726441 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 16:89561266 (GRCh38)
16:89627674 (GRCh37)
Canonical SPDI:: NC_000016.10:89561265:G:A,NC_000016.10:89561265:G:T
Gene:: RPL13 (Varview), SNORD68 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,synonymous_variant,2KB_upstream_variant
Validated:: by frequency,by cluster
MAF:: T=0.0007/2 (KOREAN)
HGVS:: NC_000016.10:g.89561266G>A, NC_000016.10:g.89561266G>T, NC_000016.9:g.89627674G>A, NC_000016.9:g.89627674G>T, NM_000977.4:c.144G>A, NM_000977.4:c.144G>T, NM_000977.3:c.144G>A, NM_000977.3:c.144G>T, NM_033251.2:c.144G>A, NM_033251.2:c.144G>T, NM_001243130.1:c.144G>A, NM_001243130.1:c.144G>T, NM_001243131.1:c.144G>A, NM_001243131.1:c.144G>T

Select item 14791098574.

rs1479109857 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:89561009 (GRCh38)
16:89627417 (GRCh37)
Canonical SPDI:: NC_000016.10:89561008:A:G
Gene:: RPL13 (Varview), SNORD68 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0.000047/1 (ALFA)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000016.10:g.89561009A>G, NC_000016.9:g.89627417A>G, NM_000977.4:c.50A>G, NM_000977.3:c.50A>G, NM_033251.2:c.50A>G, NM_001243130.1:c.50A>G, NM_001243131.1:c.50A>G, NP_000968.2:p.Asp17Gly, NP_150254.1:p.Asp17Gly, NP_001230060.1:p.Asp17Gly

Select item 14771319765.

rs1477131976 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:89561018 (GRCh38)
16:89627426 (GRCh37)
Canonical SPDI:: NC_000016.10:89561017:G:A
Gene:: RPL13 (Varview), SNORD68 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant
Validated:: by frequency,by cluster
MAF:: A=0.0017/3 (Korea1K)
HGVS:: NC_000016.10:g.89561018G>A, NC_000016.9:g.89627426G>A, NM_000977.4:c.59G>A, NM_000977.3:c.59G>A, NM_033251.2:c.59G>A, NM_001243130.1:c.59G>A, NM_001243131.1:c.59G>A, NP_000968.2:p.Arg20Gln, NP_150254.1:p.Arg20Gln, NP_001230060.1:p.Arg20Gln

Select item 14770619816.

rs1477061981 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 16:89563002 (GRCh38)
16:89629410 (GRCh37)
Canonical SPDI:: NC_000016.10:89563001:C:G,NC_000016.10:89563001:C:T
Gene:: RPL13 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.89563002C>G, NC_000016.10:g.89563002C>T, NC_000016.9:g.89629410C>G, NC_000016.9:g.89629410C>T, NM_000977.4:c.596C>G, NM_000977.4:c.596C>T, NM_000977.3:c.596C>G, NM_000977.3:c.596C>T, NM_033251.2:c.596C>G, NM_033251.2:c.596C>T, NM_001243130.1:c.539C>G, NM_001243130.1:c.539C>T, NM_001243131.1:c.455C>G, NM_001243131.1:c.455C>T, NP_000968.2:p.Ala199Gly, NP_000968.2:p.Ala199Val, NP_150254.1:p.Ala199Gly, NP_150254.1:p.Ala199Val, NP_001230060.1:p.Ala152Gly, NP_001230060.1:p.Ala152Val

Select item 14678094087.

rs1467809408 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:89562376 (GRCh38)
16:89628784 (GRCh37)
Canonical SPDI:: NC_000016.10:89562375:C:G
Gene:: RPL13 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.89562376C>G, NC_000016.9:g.89628784C>G, NM_000977.4:c.462C>G, NM_000977.3:c.462C>G, NM_033251.2:c.462C>G, NM_001243130.1:c.405C>G, NM_001243131.1:c.321C>G

Select item 14672914348.

rs1467291434 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 16:89561269 (GRCh38)
16:89627677 (GRCh37)
Canonical SPDI:: NC_000016.10:89561268:C:A,NC_000016.10:89561268:C:T
Gene:: RPL13 (Varview), SNORD68 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,synonymous_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000016.10:g.89561269C>A, NC_000016.10:g.89561269C>T, NC_000016.9:g.89627677C>A, NC_000016.9:g.89627677C>T, NM_000977.4:c.147C>A, NM_000977.4:c.147C>T, NM_000977.3:c.147C>A, NM_000977.3:c.147C>T, NM_033251.2:c.147C>A, NM_033251.2:c.147C>T, NM_001243130.1:c.147C>A, NM_001243130.1:c.147C>T, NM_001243131.1:c.147C>A, NM_001243131.1:c.147C>T

Select item 14657355029.

rs1465735502 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:89561025 (GRCh38)
16:89627433 (GRCh37)
Canonical SPDI:: NC_000016.10:89561024:G:A
Gene:: RPL13 (Varview), SNORD68 (Varview)
Functional Consequence:: upstream_transcript_variant,synonymous_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_000016.10:g.89561025G>A, NC_000016.9:g.89627433G>A, NM_000977.4:c.66G>A, NM_000977.3:c.66G>A, NM_033251.2:c.66G>A, NM_001243130.1:c.66G>A, NM_001243131.1:c.66G>A

Select item 145658432210.

rs1456584322 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:89561309 (GRCh38)
16:89627717 (GRCh37)
Canonical SPDI:: NC_000016.10:89561308:A:G
Gene:: RPL13 (Varview), SNORD68 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.89561309A>G, NC_000016.9:g.89627717A>G, NM_000977.4:c.187A>G, NM_000977.3:c.187A>G, NM_033251.2:c.187A>G, NM_001243130.1:c.187A>G, NM_001243131.1:c.187A>G, NP_000968.2:p.Thr63Ala, NP_150254.1:p.Thr63Ala, NP_001230060.1:p.Thr63Ala

Select item 145284518311.

rs1452845183 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:89561368 (GRCh38)
16:89627776 (GRCh37)
Canonical SPDI:: NC_000016.10:89561367:G:A
Gene:: RPL13 (Varview), SNORD68 (Varview)
Functional Consequence:: upstream_transcript_variant,synonymous_variant,2KB_upstream_variant,coding_sequence_variant
HGVS:: NC_000016.10:g.89561368G>A, NC_000016.9:g.89627776G>A, NM_000977.4:c.246G>A, NM_000977.3:c.246G>A, NM_033251.2:c.246G>A, NM_001243131.1:c.246G>A

Select item 144908144012.

rs1449081440 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:89561235 (GRCh38)
16:89627643 (GRCh37)
Canonical SPDI:: NC_000016.10:89561234:C:T
Gene:: RPL13 (Varview), SNORD68 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000112/1 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.89561235C>T, NC_000016.9:g.89627643C>T, NM_000977.4:c.113C>T, NM_000977.3:c.113C>T, NM_033251.2:c.113C>T, NM_001243130.1:c.113C>T, NM_001243131.1:c.113C>T, NP_000968.2:p.Ala38Val, NP_150254.1:p.Ala38Val, NP_001230060.1:p.Ala38Val

Select item 144226282113.

rs1442262821 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:89561270 (GRCh38)
16:89627678 (GRCh37)
Canonical SPDI:: NC_000016.10:89561269:C:G
Gene:: RPL13 (Varview), SNORD68 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_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_000016.10:g.89561270C>G, NC_000016.9:g.89627678C>G, NM_000977.4:c.148C>G, NM_000977.3:c.148C>G, NM_033251.2:c.148C>G, NM_001243130.1:c.148C>G, NM_001243131.1:c.148C>G, NP_000968.2:p.Pro50Ala, NP_150254.1:p.Pro50Ala, NP_001230060.1:p.Pro50Ala

Select item 144094460314.

rs1440944603 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 16:89562379 (GRCh38)
16:89628787 (GRCh37)
Canonical SPDI:: NC_000016.10:89562378:G:C,NC_000016.10:89562378:G:T
Gene:: RPL13 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000068/3 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
C=0.00046/8 (TOMMO)
HGVS:: NC_000016.10:g.89562379G>C, NC_000016.10:g.89562379G>T, NC_000016.9:g.89628787G>C, NC_000016.9:g.89628787G>T, NM_000977.4:c.465G>C, NM_000977.4:c.465G>T, NM_000977.3:c.465G>C, NM_000977.3:c.465G>T, NM_033251.2:c.465G>C, NM_033251.2:c.465G>T, NM_001243130.1:c.408G>C, NM_001243130.1:c.408G>T, NM_001243131.1:c.324G>C, NM_001243131.1:c.324G>T, NP_000968.2:p.Met155Ile, NP_000968.2:p.Met155Ile, NP_150254.1:p.Met155Ile, NP_150254.1:p.Met155Ile, NP_001230060.1:p.Met108Ile, NP_001230060.1:p.Met108Ile

Select item 143810847015.

rs1438108470 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:89561032 (GRCh38)
16:89627440 (GRCh37)
Canonical SPDI:: NC_000016.10:89561031:T:C
Gene:: RPL13 (Varview), SNORD68 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.89561032T>C, NC_000016.9:g.89627440T>C, NM_000977.4:c.73T>C, NM_000977.3:c.73T>C, NM_033251.2:c.73T>C, NM_001243130.1:c.73T>C, NM_001243131.1:c.73T>C, NP_000968.2:p.Trp25Arg, NP_150254.1:p.Trp25Arg, NP_001230060.1:p.Trp25Arg

Select item 143375064916.

rs1433750649 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 16:89560997 (GRCh38)
16:89627405 (GRCh37)
Canonical SPDI:: NC_000016.10:89560996:A:C
Gene:: RPL13 (Varview), SNORD68 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000016.10:g.89560997A>C, NC_000016.9:g.89627405A>C, NM_000977.4:c.38A>C, NM_000977.3:c.38A>C, NM_033251.2:c.38A>C, NM_001243130.1:c.38A>C, NM_001243131.1:c.38A>C, NP_000968.2:p.His13Pro, NP_150254.1:p.His13Pro, NP_001230060.1:p.His13Pro

Select item 142143955217.

rs1421439552 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:89561302 (GRCh38)
16:89627710 (GRCh37)
Canonical SPDI:: NC_000016.10:89561301:C:G
Gene:: RPL13 (Varview), SNORD68 (Varview)
Functional Consequence:: synonymous_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000005/1 (GnomAD_exomes)
G=0.000685/2 (KOREAN)
G=0.001095/2 (Korea1K)
HGVS:: NC_000016.10:g.89561302C>G, NC_000016.9:g.89627710C>G, NM_000977.4:c.180C>G, NM_000977.3:c.180C>G, NM_033251.2:c.180C>G, NM_001243130.1:c.180C>G, NM_001243131.1:c.180C>G

Select item 142078685618.

rs1420786856 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:89561244 (GRCh38)
16:89627652 (GRCh37)
Canonical SPDI:: NC_000016.10:89561243:C:T
Gene:: RPL13 (Varview), SNORD68 (Varview)
Functional Consequence:: missense_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_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_000016.10:g.89561244C>T, NC_000016.9:g.89627652C>T, NM_000977.4:c.122C>T, NM_000977.3:c.122C>T, NM_033251.2:c.122C>T, NM_001243130.1:c.122C>T, NM_001243131.1:c.122C>T, NP_000968.2:p.Ala41Val, NP_150254.1:p.Ala41Val, NP_001230060.1:p.Ala41Val

Select item 141928136019.

rs1419281360 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:89561366 (GRCh38)
16:89627774 (GRCh37)
Canonical SPDI:: NC_000016.10:89561365:A:G
Gene:: RPL13 (Varview), SNORD68 (Varview)
Functional Consequence:: missense_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.89561366A>G, NC_000016.9:g.89627774A>G, NM_000977.4:c.244A>G, NM_000977.3:c.244A>G, NM_033251.2:c.244A>G, NM_001243131.1:c.244A>G, NP_000968.2:p.Arg82Gly, NP_150254.1:p.Arg82Gly, NP_001230060.1:p.Arg82Gly

Select item 141918542920.

rs1419185429 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 16:89561017 (GRCh38)
16:89627425 (GRCh37)
Canonical SPDI:: NC_000016.10:89561016:C:A,NC_000016.10:89561016:C:T
Gene:: RPL13 (Varview), SNORD68 (Varview)
Functional Consequence:: synonymous_variant,2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.89561017C>A, NC_000016.10:g.89561017C>T, NC_000016.9:g.89627425C>A, NC_000016.9:g.89627425C>T, NM_000977.4:c.58C>A, NM_000977.4:c.58C>T, NM_000977.3:c.58C>A, NM_000977.3:c.58C>T, NM_033251.2:c.58C>A, NM_033251.2:c.58C>T, NM_001243130.1:c.58C>A, NM_001243130.1:c.58C>T, NM_001243131.1:c.58C>A, NM_001243131.1:c.58C>T, NP_000968.2:p.Arg20Trp, NP_150254.1:p.Arg20Trp, NP_001230060.1:p.Arg20Trp

<< First< Prev

Page of 12

Next >Last >>

dbSNP

Result Filters

Clinical Significance

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 229

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity