SNP Links for Protein (Select 86788015) - SNP

Links from Protein

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Select item 14908740201.

rs1490874020 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:55922430 (GRCh38)
2:56149565 (GRCh37)
Canonical SPDI:: NC_000002.12:55922429:G:T
Gene:: EFEMP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.55922430G>T, NC_000002.11:g.56149565G>T, NG_009098.1:g.6368C>A, NM_001039348.3:c.11C>A, NM_001039348.2:c.11C>A, NM_001039349.3:c.11C>A, NM_001039349.2:c.11C>A, XM_005264205.5:c.11C>A, XM_005264205.4:c.401C>A, XM_005264205.3:c.401C>A, XM_005264205.2:c.401C>A, XM_005264205.1:c.401C>A, NM_004105.3:c.11C>A, XM_017003586.3:c.11C>A, XM_017003586.2:c.11C>A, XM_017003586.1:c.11C>A, NM_004105.2:c.11C>A, NP_001034437.1:p.Ala4Asp, NP_001034438.1:p.Ala4Asp, XP_005264262.2:p.Ala4Asp, XP_016859075.1:p.Ala4Asp

Select item 14881086042.

rs1488108604 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:55875043 (GRCh38)
2:56102178 (GRCh37)
Canonical SPDI:: NC_000002.12:55875042:T:C
Gene:: EFEMP1 (Varview), LOC112268416 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.55875043T>C, NC_000002.11:g.56102178T>C, NG_009098.1:g.53755A>G, NM_001039348.3:c.903A>G, NM_001039348.2:c.903A>G, NM_001039349.3:c.903A>G, NM_001039349.2:c.903A>G, XM_005264205.5:c.663A>G, XM_005264205.4:c.1053A>G, XM_005264205.3:c.1053A>G, XM_005264205.2:c.1053A>G, XM_005264205.1:c.1053A>G, NM_004105.3:c.903A>G, XM_017003586.3:c.663A>G, XM_017003586.2:c.663A>G, XM_017003586.1:c.663A>G, NM_004105.2:c.903A>G, NM_018894.1:c.834A>G, NM_004105.1:c.585A>G

Select item 14867891823.

rs1486789182 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:55870843 (GRCh38)
2:56097978 (GRCh37)
Canonical SPDI:: NC_000002.12:55870842:G:A
Gene:: EFEMP1 (Varview), LOC112268416 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.55870843G>A, NC_000002.11:g.56097978G>A, NG_009098.1:g.57955C>T, NM_001039348.3:c.1197C>T, NM_001039348.2:c.1197C>T, NM_001039349.3:c.1197C>T, NM_001039349.2:c.1197C>T, XM_005264205.5:c.957C>T, XM_005264205.4:c.1347C>T, XM_005264205.3:c.1347C>T, XM_005264205.2:c.1347C>T, XM_005264205.1:c.1347C>T, NM_004105.3:c.1197C>T, XM_017003586.3:c.957C>T, XM_017003586.2:c.957C>T, XM_017003586.1:c.957C>T, NM_004105.2:c.1197C>T, NM_018894.1:c.1128C>T, NM_004105.1:c.879C>T

Select item 14864010814.

rs1486401081 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:55876736 (GRCh38)
2:56103871 (GRCh37)
Canonical SPDI:: NC_000002.12:55876735:T:A
Gene:: EFEMP1 (Varview), LOC112268416 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.55876736T>A, NC_000002.11:g.56103871T>A, NG_009098.1:g.52062A>T, NM_001039348.3:c.767A>T, NM_001039348.2:c.767A>T, NM_001039349.3:c.767A>T, NM_001039349.2:c.767A>T, NM_004105.3:c.767A>T, NM_004105.2:c.767A>T, NM_018894.1:c.698A>T, NM_004105.1:c.449A>T, NP_001034437.1:p.Asn256Ile, NP_001034438.1:p.Asn256Ile

Select item 14803715525.

rs1480371552 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:55917732 (GRCh38)
2:56144867 (GRCh37)
Canonical SPDI:: NC_000002.12:55917731:G:A
Gene:: EFEMP1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.0003/1 (KOREAN)
HGVS:: NC_000002.12:g.55917732G>A, NC_000002.11:g.56144867G>A, NG_009098.1:g.11066C>T, NM_001039348.3:c.450C>T, NM_001039348.2:c.450C>T, NM_001039349.3:c.450C>T, NM_001039349.2:c.450C>T, XM_005264205.5:c.450C>T, XM_005264205.4:c.840C>T, XM_005264205.3:c.840C>T, XM_005264205.2:c.840C>T, XM_005264205.1:c.840C>T, NM_004105.3:c.450C>T, XM_017003586.3:c.450C>T, XM_017003586.2:c.450C>T, XM_017003586.1:c.450C>T, NM_004105.2:c.450C>T, NM_018894.1:c.381C>T, NM_004105.1:c.132C>T

Select item 14768568466.

rs1476856846 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:55875028 (GRCh38)
2:56102163 (GRCh37)
Canonical SPDI:: NC_000002.12:55875027:T:C
Gene:: EFEMP1 (Varview), LOC112268416 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_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_000002.12:g.55875028T>C, NC_000002.11:g.56102163T>C, NG_009098.1:g.53770A>G, NM_001039348.3:c.918A>G, NM_001039348.2:c.918A>G, NM_001039349.3:c.918A>G, NM_001039349.2:c.918A>G, XM_005264205.5:c.678A>G, XM_005264205.4:c.1068A>G, XM_005264205.3:c.1068A>G, XM_005264205.2:c.1068A>G, XM_005264205.1:c.1068A>G, NM_004105.3:c.918A>G, XM_017003586.3:c.678A>G, XM_017003586.2:c.678A>G, XM_017003586.1:c.678A>G, NM_004105.2:c.918A>G, NM_018894.1:c.849A>G, NM_004105.1:c.600A>G

Select item 14763638527.

rs1476363852 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:55917882 (GRCh38)
2:56145017 (GRCh37)
Canonical SPDI:: NC_000002.12:55917881:C:T
Gene:: EFEMP1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.55917882C>T, NC_000002.11:g.56145017C>T, NG_009098.1:g.10916G>A, NM_001039348.3:c.300G>A, NM_001039348.2:c.300G>A, NM_001039349.3:c.300G>A, NM_001039349.2:c.300G>A, XM_005264205.5:c.300G>A, XM_005264205.4:c.690G>A, XM_005264205.3:c.690G>A, XM_005264205.2:c.690G>A, XM_005264205.1:c.690G>A, NM_004105.3:c.300G>A, XM_017003586.3:c.300G>A, XM_017003586.2:c.300G>A, XM_017003586.1:c.300G>A, NM_004105.2:c.300G>A, NM_018894.1:c.231G>A, NM_004105.1:c.-19G>A

Select item 14743893108.

rs1474389310 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:55917814 (GRCh38)
2:56144949 (GRCh37)
Canonical SPDI:: NC_000002.12:55917813:G:A
Gene:: EFEMP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000002.12:g.55917814G>A, NC_000002.11:g.56144949G>A, NG_009098.1:g.10984C>T, NM_001039348.3:c.368C>T, NM_001039348.2:c.368C>T, NM_001039349.3:c.368C>T, NM_001039349.2:c.368C>T, XM_005264205.5:c.368C>T, XM_005264205.4:c.758C>T, XM_005264205.3:c.758C>T, XM_005264205.2:c.758C>T, XM_005264205.1:c.758C>T, NM_004105.3:c.368C>T, XM_017003586.3:c.368C>T, XM_017003586.2:c.368C>T, XM_017003586.1:c.368C>T, NM_004105.2:c.368C>T, NM_018894.1:c.299C>T, NM_004105.1:c.50C>T, NP_001034437.1:p.Ala123Val, NP_001034438.1:p.Ala123Val, XP_005264262.2:p.Ala123Val, XP_016859075.1:p.Ala123Val

Select item 14738900229.

rs1473890022 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:55867193 (GRCh38)
2:56094328 (GRCh37)
Canonical SPDI:: NC_000002.12:55867192:T:C
Gene:: EFEMP1 (Varview), LOC112268416 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.55867193T>C, NC_000002.11:g.56094328T>C, NG_009098.1:g.61605A>G, NM_001039348.3:c.1362A>G, NM_001039348.2:c.1362A>G, NM_001039349.3:c.1362A>G, NM_001039349.2:c.1362A>G, XM_005264205.5:c.1122A>G, XM_005264205.4:c.1512A>G, XM_005264205.3:c.1512A>G, XM_005264205.2:c.1512A>G, XM_005264205.1:c.1512A>G, NM_004105.3:c.1362A>G, XM_017003586.3:c.1122A>G, XM_017003586.2:c.1122A>G, XM_017003586.1:c.1122A>G, NM_004105.2:c.1362A>G, NM_018894.1:c.1293A>G, NM_004105.1:c.1044A>G

Select item 146997558110.

rs1469975581 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 2:55917761 (GRCh38)
2:56144896 (GRCh37)
Canonical SPDI:: NC_000002.12:55917760:G:A,NC_000002.12:55917760:G:T
Gene:: EFEMP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.55917761G>A, NC_000002.12:g.55917761G>T, NC_000002.11:g.56144896G>A, NC_000002.11:g.56144896G>T, NG_009098.1:g.11037C>T, NG_009098.1:g.11037C>A, NM_001039348.3:c.421C>T, NM_001039348.3:c.421C>A, NM_001039348.2:c.421C>T, NM_001039348.2:c.421C>A, NM_001039349.3:c.421C>T, NM_001039349.3:c.421C>A, NM_001039349.2:c.421C>T, NM_001039349.2:c.421C>A, XM_005264205.5:c.421C>T, XM_005264205.5:c.421C>A, XM_005264205.4:c.811C>T, XM_005264205.4:c.811C>A, XM_005264205.3:c.811C>T, XM_005264205.3:c.811C>A, XM_005264205.2:c.811C>T, XM_005264205.2:c.811C>A, XM_005264205.1:c.811C>T, XM_005264205.1:c.811C>A, NM_004105.3:c.421C>T, NM_004105.3:c.421C>A, XM_017003586.3:c.421C>T, XM_017003586.3:c.421C>A, XM_017003586.2:c.421C>T, XM_017003586.2:c.421C>A, XM_017003586.1:c.421C>T, XM_017003586.1:c.421C>A, NM_004105.2:c.421C>T, NM_004105.2:c.421C>A, NM_018894.1:c.352C>T, NM_018894.1:c.352C>A, NM_004105.1:c.103C>T, NM_004105.1:c.103C>A, NP_001034437.1:p.Arg141Trp, NP_001034438.1:p.Arg141Trp, XP_005264262.2:p.Arg141Trp, XP_016859075.1:p.Arg141Trp

Select item 146978616711.

rs1469786167 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:55917721 (GRCh38)
2:56144856 (GRCh37)
Canonical SPDI:: NC_000002.12:55917720:G:A
Gene:: EFEMP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.55917721G>A, NC_000002.11:g.56144856G>A, NG_009098.1:g.11077C>T, NM_001039348.3:c.461C>T, NM_001039348.2:c.461C>T, NM_001039349.3:c.461C>T, NM_001039349.2:c.461C>T, XM_005264205.5:c.461C>T, XM_005264205.4:c.851C>T, XM_005264205.3:c.851C>T, XM_005264205.2:c.851C>T, XM_005264205.1:c.851C>T, NM_004105.3:c.461C>T, XM_017003586.3:c.461C>T, XM_017003586.2:c.461C>T, XM_017003586.1:c.461C>T, NM_004105.2:c.461C>T, NM_018894.1:c.392C>T, NM_004105.1:c.143C>T, NP_001034437.1:p.Ser154Phe, NP_001034438.1:p.Ser154Phe, XP_005264262.2:p.Ser154Phe, XP_016859075.1:p.Ser154Phe

Select item 146731683212.

rs1467316832 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:55918006 (GRCh38)
2:56145141 (GRCh37)
Canonical SPDI:: NC_000002.12:55918005:A:G
Gene:: EFEMP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.55918006A>G, NC_000002.11:g.56145141A>G, NG_009098.1:g.10792T>C, NM_001039348.3:c.176T>C, NM_001039348.2:c.176T>C, NM_001039349.3:c.176T>C, NM_001039349.2:c.176T>C, XM_005264205.5:c.176T>C, XM_005264205.4:c.566T>C, XM_005264205.3:c.566T>C, XM_005264205.2:c.566T>C, XM_005264205.1:c.566T>C, NM_004105.3:c.176T>C, XM_017003586.3:c.176T>C, XM_017003586.2:c.176T>C, XM_017003586.1:c.176T>C, NM_004105.2:c.176T>C, NM_018894.1:c.107T>C, NM_004105.1:c.-143T>C, NP_001034437.1:p.Met59Thr, NP_001034438.1:p.Met59Thr, XP_005264262.2:p.Met59Thr, XP_016859075.1:p.Met59Thr

Select item 146413640213.

rs1464136402 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 2:55870810 (GRCh38)
2:56097945 (GRCh37)
Canonical SPDI:: NC_000002.12:55870809:G:A,NC_000002.12:55870809:G:C
Gene:: EFEMP1 (Varview), LOC112268416 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
C=0.000035/1 (TOMMO)
HGVS:: NC_000002.12:g.55870810G>A, NC_000002.12:g.55870810G>C, NC_000002.11:g.56097945G>A, NC_000002.11:g.56097945G>C, NG_009098.1:g.57988C>T, NG_009098.1:g.57988C>G, NM_001039348.3:c.1230C>T, NM_001039348.3:c.1230C>G, NM_001039348.2:c.1230C>T, NM_001039348.2:c.1230C>G, NM_001039349.3:c.1230C>T, NM_001039349.3:c.1230C>G, NM_001039349.2:c.1230C>T, NM_001039349.2:c.1230C>G, XM_005264205.5:c.990C>T, XM_005264205.5:c.990C>G, XM_005264205.4:c.1380C>T, XM_005264205.4:c.1380C>G, XM_005264205.3:c.1380C>T, XM_005264205.3:c.1380C>G, XM_005264205.2:c.1380C>T, XM_005264205.2:c.1380C>G, XM_005264205.1:c.1380C>T, XM_005264205.1:c.1380C>G, NM_004105.3:c.1230C>T, NM_004105.3:c.1230C>G, XM_017003586.3:c.990C>T, XM_017003586.3:c.990C>G, XM_017003586.2:c.990C>T, XM_017003586.2:c.990C>G, XM_017003586.1:c.990C>T, XM_017003586.1:c.990C>G, NM_004105.2:c.1230C>T, NM_004105.2:c.1230C>G, NM_018894.1:c.1161C>T, NM_018894.1:c.1161C>G, NM_004105.1:c.912C>T, NM_004105.1:c.912C>G, NP_001034437.1:p.Ile410Met, NP_001034438.1:p.Ile410Met, XP_005264262.2:p.Ile330Met, XP_016859075.1:p.Ile330Met

Select item 146344941314.

rs1463449413 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:55917828 (GRCh38)
2:56144963 (GRCh37)
Canonical SPDI:: NC_000002.12:55917827:A:G
Gene:: EFEMP1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.55917828A>G, NC_000002.11:g.56144963A>G, NG_009098.1:g.10970T>C, NM_001039348.3:c.354T>C, NM_001039348.2:c.354T>C, NM_001039349.3:c.354T>C, NM_001039349.2:c.354T>C, XM_005264205.5:c.354T>C, XM_005264205.4:c.744T>C, XM_005264205.3:c.744T>C, XM_005264205.2:c.744T>C, XM_005264205.1:c.744T>C, NM_004105.3:c.354T>C, XM_017003586.3:c.354T>C, XM_017003586.2:c.354T>C, XM_017003586.1:c.354T>C, NM_004105.2:c.354T>C, NM_018894.1:c.285T>C, NM_004105.1:c.36T>C

Select item 146296880615.

rs1462968806 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:55870813 (GRCh38)
2:56097948 (GRCh37)
Canonical SPDI:: NC_000002.12:55870812:G:A
Gene:: EFEMP1 (Varview), LOC112268416 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.55870813G>A, NC_000002.11:g.56097948G>A, NG_009098.1:g.57985C>T, NM_001039348.3:c.1227C>T, NM_001039348.2:c.1227C>T, NM_001039349.3:c.1227C>T, NM_001039349.2:c.1227C>T, XM_005264205.5:c.987C>T, XM_005264205.4:c.1377C>T, XM_005264205.3:c.1377C>T, XM_005264205.2:c.1377C>T, XM_005264205.1:c.1377C>T, NM_004105.3:c.1227C>T, XM_017003586.3:c.987C>T, XM_017003586.2:c.987C>T, XM_017003586.1:c.987C>T, NM_004105.2:c.1227C>T, NM_018894.1:c.1158C>T, NM_004105.1:c.909C>T

Select item 146219090416.

rs1462190904 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 2:55877828 (GRCh38)
2:56104963 (GRCh37)
Canonical SPDI:: NC_000002.12:55877827:T:C,NC_000002.12:55877827:T:G
Gene:: EFEMP1 (Varview), LOC112268416 (Varview)
Functional Consequence:: 500B_downstream_variant,intron_variant,missense_variant,coding_sequence_variant,downstream_transcript_variant,synonymous_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000002.12:g.55877828T>C, NC_000002.12:g.55877828T>G, NC_000002.11:g.56104963T>C, NC_000002.11:g.56104963T>G, NG_009098.1:g.50970A>G, NG_009098.1:g.50970A>C, NM_001039348.3:c.678A>G, NM_001039348.3:c.678A>C, NM_001039348.2:c.678A>G, NM_001039348.2:c.678A>C, NM_001039349.3:c.678A>G, NM_001039349.3:c.678A>C, NM_001039349.2:c.678A>G, NM_001039349.2:c.678A>C, NM_004105.3:c.678A>G, NM_004105.3:c.678A>C, NM_004105.2:c.678A>G, NM_004105.2:c.678A>C, NM_018894.1:c.609A>G, NM_018894.1:c.609A>C, NM_004105.1:c.360A>G, NM_004105.1:c.360A>C, NP_001034437.1:p.Gln226His, NP_001034438.1:p.Gln226His

Select item 145759288717.

rs1457592887 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 2:55870869 (GRCh38)
2:56098004 (GRCh37)
Canonical SPDI:: NC_000002.12:55870868:G:A,NC_000002.12:55870868:G:C
Gene:: EFEMP1 (Varview), LOC112268416 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000002.12:g.55870869G>A, NC_000002.12:g.55870869G>C, NC_000002.11:g.56098004G>A, NC_000002.11:g.56098004G>C, NG_009098.1:g.57929C>T, NG_009098.1:g.57929C>G, NM_001039348.3:c.1171C>T, NM_001039348.3:c.1171C>G, NM_001039348.2:c.1171C>T, NM_001039348.2:c.1171C>G, NM_001039349.3:c.1171C>T, NM_001039349.3:c.1171C>G, NM_001039349.2:c.1171C>T, NM_001039349.2:c.1171C>G, XM_005264205.5:c.931C>T, XM_005264205.5:c.931C>G, XM_005264205.4:c.1321C>T, XM_005264205.4:c.1321C>G, XM_005264205.3:c.1321C>T, XM_005264205.3:c.1321C>G, XM_005264205.2:c.1321C>T, XM_005264205.2:c.1321C>G, XM_005264205.1:c.1321C>T, XM_005264205.1:c.1321C>G, NM_004105.3:c.1171C>T, NM_004105.3:c.1171C>G, XM_017003586.3:c.931C>T, XM_017003586.3:c.931C>G, XM_017003586.2:c.931C>T, XM_017003586.2:c.931C>G, XM_017003586.1:c.931C>T, XM_017003586.1:c.931C>G, NM_004105.2:c.1171C>T, NM_004105.2:c.1171C>G, NM_018894.1:c.1102C>T, NM_018894.1:c.1102C>G, NM_004105.1:c.853C>T, NM_004105.1:c.853C>G, NP_001034437.1:p.Gln391Ter, NP_001034437.1:p.Gln391Glu, NP_001034438.1:p.Gln391Ter, NP_001034438.1:p.Gln391Glu, XP_005264262.2:p.Gln311Ter, XP_005264262.2:p.Gln311Glu, XP_016859075.1:p.Gln311Ter, XP_016859075.1:p.Gln311Glu

Select item 145464301118.

rs1454643011 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:55875025 (GRCh38)
2:56102160 (GRCh37)
Canonical SPDI:: NC_000002.12:55875024:A:G
Gene:: EFEMP1 (Varview), LOC112268416 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.55875025A>G, NC_000002.11:g.56102160A>G, NG_009098.1:g.53773T>C, NM_001039348.3:c.921T>C, NM_001039348.2:c.921T>C, NM_001039349.3:c.921T>C, NM_001039349.2:c.921T>C, XM_005264205.5:c.681T>C, XM_005264205.4:c.1071T>C, XM_005264205.3:c.1071T>C, XM_005264205.2:c.1071T>C, XM_005264205.1:c.1071T>C, NM_004105.3:c.921T>C, XM_017003586.3:c.681T>C, XM_017003586.2:c.681T>C, XM_017003586.1:c.681T>C, NM_004105.2:c.921T>C, NM_018894.1:c.852T>C, NM_004105.1:c.603T>C

Select item 145405323819.

rs1454053238 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:55877860 (GRCh38)
2:56104995 (GRCh37)
Canonical SPDI:: NC_000002.12:55877859:C:T
Gene:: EFEMP1 (Varview), LOC112268416 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.55877860C>T, NC_000002.11:g.56104995C>T, NG_009098.1:g.50938G>A, NM_001039348.3:c.646G>A, NM_001039348.2:c.646G>A, NM_001039349.3:c.646G>A, NM_001039349.2:c.646G>A, NM_004105.3:c.646G>A, NM_004105.2:c.646G>A, NM_018894.1:c.577G>A, NM_004105.1:c.328G>A, NP_001034437.1:p.Asp216Asn, NP_001034438.1:p.Asp216Asn

Select item 145196710620.

rs1451967106 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:55917978 (GRCh38)
2:56145113 (GRCh37)
Canonical SPDI:: NC_000002.12:55917977:G:A
Gene:: EFEMP1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.55917978G>A, NC_000002.11:g.56145113G>A, NG_009098.1:g.10820C>T, NM_001039348.3:c.204C>T, NM_001039348.2:c.204C>T, NM_001039349.3:c.204C>T, NM_001039349.2:c.204C>T, XM_005264205.5:c.204C>T, XM_005264205.4:c.594C>T, XM_005264205.3:c.594C>T, XM_005264205.2:c.594C>T, XM_005264205.1:c.594C>T, NM_004105.3:c.204C>T, XM_017003586.3:c.204C>T, XM_017003586.2:c.204C>T, XM_017003586.1:c.204C>T, NM_004105.2:c.204C>T, NM_018894.1:c.135C>T, NM_004105.1:c.-115C>T

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