SNP Links for Protein (Select 320118911) - SNP

Links from Protein

Items: 1 to 20 of 479

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Select item 14886720741.

rs1488672074 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:65867872 (GRCh38)
11:65635343 (GRCh37)
Canonical SPDI:: NC_000011.10:65867871:A:C
Gene:: EFEMP2 (Varview), MUS81 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
HGVS:: NC_000011.10:g.65867872A>C, NC_000011.9:g.65635343A>C, NG_012304.2:g.10063T>G, NM_016938.5:c.1159T>G, NM_016938.4:c.1159T>G, NR_037718.2:n.1284T>G, NR_037718.1:n.1418T>G, NG_053116.1:g.12811A>C, NP_058634.4:p.Phe387Val

Select item 14855007882.

rs1485500788 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:65867882 (GRCh38)
11:65635353 (GRCh37)
Canonical SPDI:: NC_000011.10:65867881:C:G
Gene:: EFEMP2 (Varview), MUS81 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,downstream_transcript_variant,synonymous_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.65867882C>G, NC_000011.9:g.65635353C>G, NG_012304.2:g.10053G>C, NM_016938.5:c.1149G>C, NM_016938.4:c.1149G>C, NR_037718.2:n.1274G>C, NR_037718.1:n.1408G>C, NG_053116.1:g.12821C>G

Select item 14839028613.

rs1483902861 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:65870634 (GRCh38)
11:65638105 (GRCh37)
Canonical SPDI:: NC_000011.10:65870633:A:G
Gene:: EFEMP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000047/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.65870634A>G, NC_000011.9:g.65638105A>G, NG_012304.2:g.7301T>C, NM_016938.5:c.392T>C, NM_016938.4:c.392T>C, NR_037718.2:n.517T>C, NR_037718.1:n.651T>C, NP_058634.4:p.Leu131Pro

Select item 14802071184.

rs1480207118 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:65868389 (GRCh38)
11:65635860 (GRCh37)
Canonical SPDI:: NC_000011.10:65868388:A:G
Gene:: EFEMP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
HGVS:: NC_000011.10:g.65868389A>G, NC_000011.9:g.65635860A>G, NG_012304.2:g.9546T>C, NM_016938.5:c.880T>C, NM_016938.4:c.880T>C, NR_037718.2:n.1005T>C, NR_037718.1:n.1139T>C, NG_053116.1:g.13328A>G, NP_058634.4:p.Cys294Arg

Select item 14758250745.

rs1475825074 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:65867995 (GRCh38)
11:65635466 (GRCh37)
Canonical SPDI:: NC_000011.10:65867994:G:A
Gene:: EFEMP2 (Varview), MUS81 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,500B_downstream_variant,downstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.65867995G>A, NC_000011.9:g.65635466G>A, NG_012304.2:g.9940C>T, NM_016938.5:c.1036C>T, NM_016938.4:c.1036C>T, NR_037718.2:n.1161C>T, NR_037718.1:n.1295C>T, NG_053116.1:g.12934G>A, NP_058634.4:p.Arg346Cys

Select item 14749850596.

rs1474985059 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:65867992 (GRCh38)
11:65635463 (GRCh37)
Canonical SPDI:: NC_000011.10:65867991:A:G
Gene:: EFEMP2 (Varview), MUS81 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,500B_downstream_variant,downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.65867992A>G, NC_000011.9:g.65635463A>G, NG_012304.2:g.9943T>C, NM_016938.5:c.1039T>C, NM_016938.4:c.1039T>C, NR_037718.2:n.1164T>C, NR_037718.1:n.1298T>C, NG_053116.1:g.12931A>G, NP_058634.4:p.Tyr347His

Select item 14686809397.

rs1468680939 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:65872299 (GRCh38)
11:65639770 (GRCh37)
Canonical SPDI:: NC_000011.10:65872298:A:G
Gene:: EFEMP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.65872299A>G, NC_000011.9:g.65639770A>G, NG_012304.2:g.5636T>C, NM_016938.5:c.56T>C, NM_016938.4:c.56T>C, NR_037718.2:n.181T>C, NR_037718.1:n.315T>C, NP_058634.4:p.Leu19Pro

Select item 14683781288.

rs1468378128 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:65871984 (GRCh38)
11:65639455 (GRCh37)
Canonical SPDI:: NC_000011.10:65871983:C:G
Gene:: EFEMP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.65871984C>G, NC_000011.9:g.65639455C>G, NG_012304.2:g.5951G>C, NM_016938.5:c.146G>C, NM_016938.4:c.146G>C, NR_037718.2:n.271G>C, NR_037718.1:n.405G>C, NP_058634.4:p.Ser49Thr

Select item 14668133029.

rs1466813302 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:65870548 (GRCh38)
11:65638019 (GRCh37)
Canonical SPDI:: NC_000011.10:65870547:G:A
Gene:: EFEMP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
HGVS:: NC_000011.10:g.65870548G>A, NC_000011.9:g.65638019G>A, NG_012304.2:g.7387C>T, NM_016938.5:c.478C>T, NM_016938.4:c.478C>T, NR_037718.2:n.603C>T, NR_037718.1:n.737C>T, NP_058634.4:p.Pro160Ser

Select item 146607698310.

rs1466076983 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:65867068 (GRCh38)
11:65634539 (GRCh37)
Canonical SPDI:: NC_000011.10:65867067:G:A
Gene:: EFEMP2 (Varview), MUS81 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,synonymous_variant,intron_variant,coding_sequence_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000162/3 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
A=0.000036/5 (GnomAD)
A=0.000446/2 (Estonian)
HGVS:: NC_000011.10:g.65867068G>A, NC_000011.9:g.65634539G>A, NG_012304.2:g.10867C>T, NM_016938.5:c.1182C>T, NM_016938.4:c.1182C>T, NR_037718.2:n.1307C>T, NR_037718.1:n.1441C>T, NG_053116.1:g.12007G>A

Select item 146541708211.

rs1465417082 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:65871296 (GRCh38)
11:65638767 (GRCh37)
Canonical SPDI:: NC_000011.10:65871295:C:T
Gene:: EFEMP2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000011.10:g.65871296C>T, NC_000011.9:g.65638767C>T, NG_012304.2:g.6639G>A, NM_016938.5:c.228G>A, NM_016938.4:c.228G>A, NR_037718.2:n.353G>A, NR_037718.1:n.487G>A

Select item 146385564612.

rs1463855646 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:65868032 (GRCh38)
11:65635503 (GRCh37)
Canonical SPDI:: NC_000011.10:65868031:G:A
Gene:: EFEMP2 (Varview), MUS81 (Varview)
Functional Consequence:: 500B_downstream_variant,non_coding_transcript_variant,synonymous_variant,downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.65868032G>A, NC_000011.9:g.65635503G>A, NG_012304.2:g.9903C>T, NM_016938.5:c.999C>T, NM_016938.4:c.999C>T, NR_037718.2:n.1124C>T, NR_037718.1:n.1258C>T, NG_053116.1:g.12971G>A

Select item 145709419013.

rs1457094190 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:65871986 (GRCh38)
11:65639457 (GRCh37)
Canonical SPDI:: NC_000011.10:65871985:G:A
Gene:: EFEMP2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
HGVS:: NC_000011.10:g.65871986G>A, NC_000011.9:g.65639457G>A, NG_012304.2:g.5949C>T, NM_016938.5:c.144C>T, NM_016938.4:c.144C>T, NR_037718.2:n.269C>T, NR_037718.1:n.403C>T

Select item 145591170814.

rs1455911708 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:65868617 (GRCh38)
11:65636088 (GRCh37)
Canonical SPDI:: NC_000011.10:65868616:C:T
Gene:: EFEMP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000011.10:g.65868617C>T, NC_000011.9:g.65636088C>T, NG_012304.2:g.9318G>A, NM_016938.5:c.740G>A, NM_016938.4:c.740G>A, NR_037718.2:n.865G>A, NR_037718.1:n.999G>A, NG_053116.1:g.13556C>T, NP_058634.4:p.Cys247Tyr

Select item 145088256115.

rs1450882561 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:65867018 (GRCh38)
11:65634489 (GRCh37)
Canonical SPDI:: NC_000011.10:65867017:T:C
Gene:: EFEMP2 (Varview), MUS81 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000011.10:g.65867018T>C, NC_000011.9:g.65634489T>C, NG_012304.2:g.10917A>G, NM_016938.5:c.1232A>G, NM_016938.4:c.1232A>G, NR_037718.2:n.1357A>G, NR_037718.1:n.1491A>G, NG_053116.1:g.11957T>C, NP_058634.4:p.Tyr411Cys

Select item 145018924516.

rs1450189245 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:65869968 (GRCh38)
11:65637439 (GRCh37)
Canonical SPDI:: NC_000011.10:65869967:C:T
Gene:: EFEMP2 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
HGVS:: NC_000011.10:g.65869968C>T, NC_000011.9:g.65637439C>T, NG_012304.2:g.7967G>A, NM_016938.5:c.616G>A, NM_016938.4:c.616G>A, NR_037718.2:n.741G>A, NR_037718.1:n.875G>A, NP_058634.4:p.Glu206Lys

Select item 144974899117.

rs1449748991 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 11:65867053 (GRCh38)
11:65634524 (GRCh37)
Canonical SPDI:: NC_000011.10:65867052:C:A,NC_000011.10:65867052:C:T
Gene:: EFEMP2 (Varview), MUS81 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
HGVS:: NC_000011.10:g.65867053C>A, NC_000011.10:g.65867053C>T, NC_000011.9:g.65634524C>A, NC_000011.9:g.65634524C>T, NG_012304.2:g.10882G>T, NG_012304.2:g.10882G>A, NM_016938.5:c.1197G>T, NM_016938.5:c.1197G>A, NM_016938.4:c.1197G>T, NM_016938.4:c.1197G>A, NR_037718.2:n.1322G>T, NR_037718.2:n.1322G>A, NR_037718.1:n.1456G>T, NR_037718.1:n.1456G>A, NG_053116.1:g.11992C>A, NG_053116.1:g.11992C>T

Select item 144824349818.

rs1448243498 [Homo sapiens]

Variant type:: DEL
Alleles:: AGTCGTG>- [Show Flanks]
Chromosome:: 11:65870626 (GRCh38)
11:65638097 (GRCh37)
Canonical SPDI:: NC_000011.10:65870625:AGTCGTG:
Gene:: EFEMP2 (Varview)
Functional Consequence:: frameshift_variant,non_coding_transcript_variant,coding_sequence_variant
HGVS:: NC_000011.10:g.65870626_65870632del, NC_000011.9:g.65638097_65638103del, NG_012304.2:g.7303_7309del, NM_016938.5:c.394_400del, NM_016938.4:c.394_400del, NR_037718.2:n.519_525del, NR_037718.1:n.653_659del, NP_058634.4:p.His132fs

Select item 144528146619.

rs1445281466 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 11:65871312 (GRCh38)
11:65638783 (GRCh37)
Canonical SPDI:: NC_000011.10:65871311:C:
Gene:: EFEMP2 (Varview)
Functional Consequence:: frameshift_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.65871312del, NC_000011.9:g.65638783del, NG_012304.2:g.6623del, NM_016938.5:c.212del, NM_016938.4:c.212del, NR_037718.2:n.337del, NR_037718.1:n.471del, NP_058634.4:p.Cys71fs

Select item 144411568920.

rs1444115689 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 11:65872327 (GRCh38)
11:65639798 (GRCh37)
Canonical SPDI:: NC_000011.10:65872326:C:A,NC_000011.10:65872326:C:T
Gene:: EFEMP2 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000006/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.65872327C>A, NC_000011.10:g.65872327C>T, NC_000011.9:g.65639798C>A, NC_000011.9:g.65639798C>T, NG_012304.2:g.5608G>T, NG_012304.2:g.5608G>A, NM_016938.5:c.28G>T, NM_016938.5:c.28G>A, NM_016938.4:c.28G>T, NM_016938.4:c.28G>A, NR_037718.2:n.153G>T, NR_037718.2:n.153G>A, NR_037718.1:n.287G>T, NR_037718.1:n.287G>A, NP_058634.4:p.Gly10Trp, NP_058634.4:p.Gly10Arg

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