SNP Links for Protein (Select 47679089) - SNP

Links from Protein

Items: 1 to 20 of 221

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Select item 14883996751.

rs1488399675 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 10:63619786 (GRCh38)
10:65379546 (GRCh37)
Canonical SPDI:: NC_000010.11:63619785:A:C
Gene:: REEP3 (Varview), LOC105378329 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.63619786A>C, NC_000010.10:g.65379546A>C, NM_001001330.3:c.697A>C, NM_001001330.2:c.697A>C, NP_001001330.1:p.Lys233Gln

Select item 14873168012.

rs1487316801 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 10:63594808 (GRCh38)
10:65354568 (GRCh37)
Canonical SPDI:: NC_000010.11:63594807:G:T
Gene:: REEP3 (Varview), LOC105378329 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.63594808G>T, NC_000010.10:g.65354568G>T, XM_011539501.3:c.136G>T, XM_011539501.2:c.136G>T, XM_011539501.1:c.136G>T, NM_001001330.3:c.136G>T, NM_001001330.2:c.136G>T, XM_017015896.2:c.136G>T, XM_017015896.1:c.136G>T, XP_011537803.1:p.Ala46Ser, NP_001001330.1:p.Ala46Ser, XP_016871385.1:p.Ala46Ser

Select item 14778923943.

rs1477892394 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 10:63610243 (GRCh38)
10:65370003 (GRCh37)
Canonical SPDI:: NC_000010.11:63610242:T:G
Gene:: REEP3 (Varview), LOC105378329 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.63610243T>G, NC_000010.10:g.65370003T>G, NM_001001330.3:c.474T>G, NM_001001330.2:c.474T>G

Select item 14766108464.

rs1476610846 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:63598034 (GRCh38)
10:65357794 (GRCh37)
Canonical SPDI:: NC_000010.11:63598033:T:C
Gene:: REEP3 (Varview), LOC105378329 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.63598034T>C, NC_000010.10:g.65357794T>C, XM_011539501.3:c.193T>C, XM_011539501.2:c.193T>C, XM_011539501.1:c.193T>C, NM_001001330.3:c.193T>C, NM_001001330.2:c.193T>C, XM_017015896.2:c.193T>C, XM_017015896.1:c.193T>C, XP_011537803.1:p.Tyr65His, NP_001001330.1:p.Tyr65His, XP_016871385.1:p.Tyr65His

Select item 14756348835.

rs1475634883 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:63619796 (GRCh38)
10:65379556 (GRCh37)
Canonical SPDI:: NC_000010.11:63619795:A:G
Gene:: REEP3 (Varview), LOC105378329 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.63619796A>G, NC_000010.10:g.65379556A>G, NM_001001330.3:c.707A>G, NM_001001330.2:c.707A>G, NP_001001330.1:p.Lys236Arg

Select item 14740385096.

rs1474038509 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 10:63620859 (GRCh38)
10:65380619 (GRCh37)
Canonical SPDI:: NC_000010.11:63620858:T:G
Gene:: REEP3 (Varview), LOC105378329 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,genic_downstream_transcript_variant
HGVS:: NC_000010.11:g.63620859T>G, NC_000010.10:g.65380619T>G, NM_001001330.3:c.758T>G, NM_001001330.2:c.758T>G, NP_001001330.1:p.Val253Gly

Select item 14666055587.

rs1466605558 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:63620813 (GRCh38)
10:65380573 (GRCh37)
Canonical SPDI:: NC_000010.11:63620812:G:A
Gene:: REEP3 (Varview), LOC105378329 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000043/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.63620813G>A, NC_000010.10:g.65380573G>A, NM_001001330.3:c.712G>A, NM_001001330.2:c.712G>A, NP_001001330.1:p.Val238Met

Select item 14655052008.

rs1465505200 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:63566376 (GRCh38)
10:65326136 (GRCh37)
Canonical SPDI:: NC_000010.11:63566375:A:G
Gene:: REEP3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.63566376A>G, NC_000010.10:g.65326136A>G, XM_011539501.3:c.71A>G, XM_011539501.2:c.71A>G, XM_011539501.1:c.71A>G, NM_001001330.3:c.71A>G, NM_001001330.2:c.71A>G, XM_017015896.2:c.71A>G, XM_017015896.1:c.71A>G, XP_011537803.1:p.Tyr24Cys, NP_001001330.1:p.Tyr24Cys, XP_016871385.1:p.Tyr24Cys

Select item 14621756879.

rs1462175687 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 10:63566352 (GRCh38)
10:65326112 (GRCh37)
Canonical SPDI:: NC_000010.11:63566351:T:C,NC_000010.11:63566351:T:G
Gene:: REEP3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000010.11:g.63566352T>C, NC_000010.11:g.63566352T>G, NC_000010.10:g.65326112T>C, NC_000010.10:g.65326112T>G, XM_011539501.3:c.47T>C, XM_011539501.3:c.47T>G, XM_011539501.2:c.47T>C, XM_011539501.2:c.47T>G, XM_011539501.1:c.47T>C, XM_011539501.1:c.47T>G, NM_001001330.3:c.47T>C, NM_001001330.3:c.47T>G, NM_001001330.2:c.47T>C, NM_001001330.2:c.47T>G, XM_017015896.2:c.47T>C, XM_017015896.2:c.47T>G, XM_017015896.1:c.47T>C, XM_017015896.1:c.47T>G, XP_011537803.1:p.Met16Thr, XP_011537803.1:p.Met16Arg, NP_001001330.1:p.Met16Thr, NP_001001330.1:p.Met16Arg, XP_016871385.1:p.Met16Thr, XP_016871385.1:p.Met16Arg

Select item 145863068610.

rs1458630686 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 10:63610223 (GRCh38)
10:65369983 (GRCh37)
Canonical SPDI:: NC_000010.11:63610222:A:C
Gene:: REEP3 (Varview), LOC105378329 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
C=0.001027/3 (KOREAN)
HGVS:: NC_000010.11:g.63610223A>C, NC_000010.10:g.65369983A>C, NM_001001330.3:c.454A>C, NM_001001330.2:c.454A>C, NP_001001330.1:p.Ser152Arg

Select item 145362833811.

rs1453628338 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 10:63599180 (GRCh38)
10:65358940 (GRCh37)
Canonical SPDI:: NC_000010.11:63599179:A:C,NC_000010.11:63599179:A:T
Gene:: REEP3 (Varview), LOC105378329 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
HGVS:: NC_000010.11:g.63599180A>C, NC_000010.11:g.63599180A>T, NC_000010.10:g.65358940A>C, NC_000010.10:g.65358940A>T, XM_011539501.3:c.314A>C, XM_011539501.3:c.314A>T, XM_011539501.2:c.314A>C, XM_011539501.2:c.314A>T, XM_011539501.1:c.314A>C, XM_011539501.1:c.314A>T, NM_001001330.3:c.314A>C, NM_001001330.3:c.314A>T, NM_001001330.2:c.314A>C, NM_001001330.2:c.314A>T, XM_017015896.2:c.314A>C, XM_017015896.2:c.314A>T, XM_017015896.1:c.314A>C, XM_017015896.1:c.314A>T, XP_011537803.1:p.Asp105Ala, XP_011537803.1:p.Asp105Val, NP_001001330.1:p.Asp105Ala, NP_001001330.1:p.Asp105Val, XP_016871385.1:p.Asp105Ala, XP_016871385.1:p.Asp105Val

Select item 145329490012.

rs1453294900 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:63620816 (GRCh38)
10:65380576 (GRCh37)
Canonical SPDI:: NC_000010.11:63620815:C:T
Gene:: REEP3 (Varview), LOC105378329 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,intron_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_000010.11:g.63620816C>T, NC_000010.10:g.65380576C>T, NM_001001330.3:c.715C>T, NM_001001330.2:c.715C>T, NP_001001330.1:p.Arg239Trp

Select item 144796568413.

rs1447965684 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:63598074 (GRCh38)
10:65357834 (GRCh37)
Canonical SPDI:: NC_000010.11:63598073:C:T
Gene:: REEP3 (Varview), LOC105378329 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000010.11:g.63598074C>T, NC_000010.10:g.65357834C>T, XM_011539501.3:c.233C>T, XM_011539501.2:c.233C>T, XM_011539501.1:c.233C>T, NM_001001330.3:c.233C>T, NM_001001330.2:c.233C>T, XM_017015896.2:c.233C>T, XM_017015896.1:c.233C>T, XP_011537803.1:p.Ser78Phe, NP_001001330.1:p.Ser78Phe, XP_016871385.1:p.Ser78Phe

Select item 144755761414.

rs1447557614 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 10:63619691 (GRCh38)
10:65379451 (GRCh37)
Canonical SPDI:: NC_000010.11:63619690:C:G,NC_000010.11:63619690:C:T
Gene:: REEP3 (Varview), LOC105378329 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
G=0.000035/1 (TOMMO)
HGVS:: NC_000010.11:g.63619691C>G, NC_000010.11:g.63619691C>T, NC_000010.10:g.65379451C>G, NC_000010.10:g.65379451C>T, NM_001001330.3:c.602C>G, NM_001001330.3:c.602C>T, NM_001001330.2:c.602C>G, NM_001001330.2:c.602C>T, NP_001001330.1:p.Thr201Arg, NP_001001330.1:p.Thr201Ile

Select item 143981240015.

rs1439812400 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:63619797 (GRCh38)
10:65379557 (GRCh37)
Canonical SPDI:: NC_000010.11:63619796:A:G
Gene:: REEP3 (Varview), LOC105378329 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.63619797A>G, NC_000010.10:g.65379557A>G, NM_001001330.3:c.708A>G, NM_001001330.2:c.708A>G

Select item 142554484016.

rs1425544840 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:63619710 (GRCh38)
10:65379470 (GRCh37)
Canonical SPDI:: NC_000010.11:63619709:G:A
Gene:: REEP3 (Varview), LOC105378329 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,intron_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)
A=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.63619710G>A, NC_000010.10:g.65379470G>A, NM_001001330.3:c.621G>A, NM_001001330.2:c.621G>A

Select item 142440817517.

rs1424408175 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 10:63610296 (GRCh38)
10:65370056 (GRCh37)
Canonical SPDI:: NC_000010.11:63610295:C:A
Gene:: REEP3 (Varview), LOC105378329 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,intron_variant,coding_sequence_variant
HGVS:: NC_000010.11:g.63610296C>A, NC_000010.10:g.65370056C>A, NM_001001330.3:c.527C>A, NM_001001330.2:c.527C>A, NP_001001330.1:p.Ala176Glu

Select item 142316532018.

rs1423165320 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:63566366 (GRCh38)
10:65326126 (GRCh37)
Canonical SPDI:: NC_000010.11:63566365:T:C
Gene:: REEP3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000010.11:g.63566366T>C, NC_000010.10:g.65326126T>C, XM_011539501.3:c.61T>C, XM_011539501.2:c.61T>C, XM_011539501.1:c.61T>C, NM_001001330.3:c.61T>C, NM_001001330.2:c.61T>C, XM_017015896.2:c.61T>C, XM_017015896.1:c.61T>C, XP_011537803.1:p.Tyr21His, NP_001001330.1:p.Tyr21His, XP_016871385.1:p.Tyr21His

Select item 142193621519.

rs1421936215 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:63599176 (GRCh38)
10:65358936 (GRCh37)
Canonical SPDI:: NC_000010.11:63599175:G:A
Gene:: REEP3 (Varview), LOC105378329 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
HGVS:: NC_000010.11:g.63599176G>A, NC_000010.10:g.65358936G>A, XM_011539501.3:c.310G>A, XM_011539501.2:c.310G>A, XM_011539501.1:c.310G>A, NM_001001330.3:c.310G>A, NM_001001330.2:c.310G>A, XM_017015896.2:c.310G>A, XM_017015896.1:c.310G>A, XP_011537803.1:p.Asp104Asn, NP_001001330.1:p.Asp104Asn, XP_016871385.1:p.Asp104Asn

Select item 141963639720.

rs1419636397 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 10:63594827 (GRCh38)
10:65354587 (GRCh37)
Canonical SPDI:: NC_000010.11:63594826:A:C
Gene:: REEP3 (Varview), LOC105378329 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000047/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.63594827A>C, NC_000010.10:g.65354587A>C, XM_011539501.3:c.155A>C, XM_011539501.2:c.155A>C, XM_011539501.1:c.155A>C, NM_001001330.3:c.155A>C, NM_001001330.2:c.155A>C, XM_017015896.2:c.155A>C, XM_017015896.1:c.155A>C, XP_011537803.1:p.Glu52Ala, NP_001001330.1:p.Glu52Ala, XP_016871385.1:p.Glu52Ala

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