SNP Links for Protein (Select 31621305) - SNP

Links from Protein

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Select item 14908487201.

rs1490848720 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:43918324 (GRCh38)
2:44145463 (GRCh37)
Canonical SPDI:: NC_000002.12:43918323:T:C
Gene:: LRPPRC (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000111/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.43918324T>C, NC_000002.11:g.44145463T>C, NG_008247.1:g.82682A>G, NM_133259.4:c.2971A>G, NM_133259.3:c.2971A>G, XM_006711916.4:c.2971A>G, XM_006711916.3:c.2971A>G, XM_006711916.2:c.2971A>G, XM_006711916.1:c.2971A>G, XM_006711915.3:c.2893A>G, XM_006711915.2:c.2893A>G, XM_006711915.1:c.2893A>G, XM_047442809.1:c.2845A>G, XR_007068563.1:n.3013A>G, NP_573566.2:p.Lys991Glu, XP_006711979.1:p.Lys991Glu, XP_006711978.1:p.Lys965Glu, XP_047298765.1:p.Lys949Glu

Select item 14904969292.

rs1490496929 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 2:43899496 (GRCh38)
2:44126635 (GRCh37)
Canonical SPDI:: NC_000002.12:43899493:CTCT:CT
Gene:: LRPPRC (Varview)
Functional Consequence:: non_coding_transcript_variant,frameshift_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: CTCT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.43899494CT[1], NC_000002.11:g.44126633CT[1], NG_008247.1:g.101509AG[1], NM_133259.4:c.3680_3681del, NM_133259.3:c.3680_3681del, XM_006711915.3:c.3602_3603del, XM_006711915.2:c.3602_3603del, XM_006711915.1:c.3602_3603del, XM_047442809.1:c.3554_3555del, XR_007068563.1:n.3720AG[1], NP_573566.2:p.Glu1227fs, XP_006711978.1:p.Glu1201fs, XP_047298765.1:p.Glu1185fs

Select item 14892355483.

rs1489235548 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 2:43973811 (GRCh38)
2:44200950 (GRCh37)
Canonical SPDI:: NC_000002.12:43973810:T:A,NC_000002.12:43973810:T:C
Gene:: LRPPRC (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
C=0.000071/1 (TOMMO)
HGVS:: NC_000002.12:g.43973811T>A, NC_000002.12:g.43973811T>C, NC_000002.11:g.44200950T>A, NC_000002.11:g.44200950T>C, NG_008247.1:g.27195A>T, NG_008247.1:g.27195A>G, NM_133259.4:c.1245A>T, NM_133259.4:c.1245A>G, NM_133259.3:c.1245A>T, NM_133259.3:c.1245A>G, XM_006711916.4:c.1245A>T, XM_006711916.4:c.1245A>G, XM_006711916.3:c.1245A>T, XM_006711916.3:c.1245A>G, XM_006711916.2:c.1245A>T, XM_006711916.2:c.1245A>G, XM_006711916.1:c.1245A>T, XM_006711916.1:c.1245A>G, XM_006711915.3:c.1167A>T, XM_006711915.3:c.1167A>G, XM_006711915.2:c.1167A>T, XM_006711915.2:c.1167A>G, XM_006711915.1:c.1167A>T, XM_006711915.1:c.1167A>G, XM_047442809.1:c.1119A>T, XM_047442809.1:c.1119A>G, XR_007068563.1:n.1287A>T, XR_007068563.1:n.1287A>G, NP_573566.2:p.Leu415Phe, XP_006711979.1:p.Leu415Phe, XP_006711978.1:p.Leu389Phe, XP_047298765.1:p.Leu373Phe

Select item 14887656944.

rs1488765694 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 2:43918260 (GRCh38)
2:44145399 (GRCh37)
Canonical SPDI:: NC_000002.12:43918259:G:A,NC_000002.12:43918259:G:C
Gene:: LRPPRC (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000002.12:g.43918260G>A, NC_000002.12:g.43918260G>C, NC_000002.11:g.44145399G>A, NC_000002.11:g.44145399G>C, NG_008247.1:g.82746C>T, NG_008247.1:g.82746C>G, NM_133259.4:c.3035C>T, NM_133259.4:c.3035C>G, NM_133259.3:c.3035C>T, NM_133259.3:c.3035C>G, XM_006711916.4:c.3035C>T, XM_006711916.4:c.3035C>G, XM_006711916.3:c.3035C>T, XM_006711916.3:c.3035C>G, XM_006711916.2:c.3035C>T, XM_006711916.2:c.3035C>G, XM_006711916.1:c.3035C>T, XM_006711916.1:c.3035C>G, XM_006711915.3:c.2957C>T, XM_006711915.3:c.2957C>G, XM_006711915.2:c.2957C>T, XM_006711915.2:c.2957C>G, XM_006711915.1:c.2957C>T, XM_006711915.1:c.2957C>G, XM_047442809.1:c.2909C>T, XM_047442809.1:c.2909C>G, XR_007068563.1:n.3077C>T, XR_007068563.1:n.3077C>G, NP_573566.2:p.Pro1012Leu, NP_573566.2:p.Pro1012Arg, XP_006711979.1:p.Pro1012Leu, XP_006711979.1:p.Pro1012Arg, XP_006711978.1:p.Pro986Leu, XP_006711978.1:p.Pro986Arg, XP_047298765.1:p.Pro970Leu, XP_047298765.1:p.Pro970Arg

Select item 14871721055.

rs1487172105 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 2:43979913 (GRCh38)
2:44207052 (GRCh37)
Canonical SPDI:: NC_000002.12:43979912:G:A,NC_000002.12:43979912:G:C
Gene:: LRPPRC (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0./0 (GnomAD)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.00006/1 (TOMMO)
HGVS:: NC_000002.12:g.43979913G>A, NC_000002.12:g.43979913G>C, NC_000002.11:g.44207052G>A, NC_000002.11:g.44207052G>C, NG_008247.1:g.21093C>T, NG_008247.1:g.21093C>G, NM_133259.4:c.382C>T, NM_133259.4:c.382C>G, NM_133259.3:c.382C>T, NM_133259.3:c.382C>G, XM_006711916.4:c.382C>T, XM_006711916.4:c.382C>G, XM_006711916.3:c.382C>T, XM_006711916.3:c.382C>G, XM_006711916.2:c.382C>T, XM_006711916.2:c.382C>G, XM_006711916.1:c.382C>T, XM_006711916.1:c.382C>G, XM_006711915.3:c.304C>T, XM_006711915.3:c.304C>G, XM_006711915.2:c.304C>T, XM_006711915.2:c.304C>G, XM_006711915.1:c.304C>T, XM_006711915.1:c.304C>G, XM_047442809.1:c.256C>T, XM_047442809.1:c.256C>G, XR_007068563.1:n.424C>T, XR_007068563.1:n.424C>G, NP_573566.2:p.Arg128Cys, NP_573566.2:p.Arg128Gly, XP_006711979.1:p.Arg128Cys, XP_006711979.1:p.Arg128Gly, XP_006711978.1:p.Arg102Cys, XP_006711978.1:p.Arg102Gly, XP_047298765.1:p.Arg86Cys, XP_047298765.1:p.Arg86Gly

Select item 14867038736.

rs1486703873 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:43912554 (GRCh38)
2:44139693 (GRCh37)
Canonical SPDI:: NC_000002.12:43912553:T:C
Gene:: LRPPRC (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,missense_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)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.43912554T>C, NC_000002.11:g.44139693T>C, NG_008247.1:g.88452A>G, NM_133259.4:c.3153A>G, NM_133259.3:c.3153A>G, XM_006711916.4:c.3154A>G, XM_006711916.3:c.3154A>G, XM_006711916.2:c.3154A>G, XM_006711916.1:c.3154A>G, XM_006711915.3:c.3075A>G, XM_006711915.2:c.3075A>G, XM_006711915.1:c.3075A>G, XM_047442809.1:c.3027A>G, XR_007068563.1:n.3195A>G, XP_006711979.1:p.Ile1052Val

Select item 14866256027.

rs1486625602 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:43946169 (GRCh38)
2:44173308 (GRCh37)
Canonical SPDI:: NC_000002.12:43946168:T:G
Gene:: LRPPRC (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa
MAF:: G=0.000051/1 (ALFA)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.43946169T>G, NC_000002.11:g.44173308T>G, NG_008247.1:g.54837A>C, NM_133259.4:c.2154A>C, NM_133259.3:c.2154A>C, XM_006711916.4:c.2154A>C, XM_006711916.3:c.2154A>C, XM_006711916.2:c.2154A>C, XM_006711916.1:c.2154A>C, XM_006711915.3:c.2076A>C, XM_006711915.2:c.2076A>C, XM_006711915.1:c.2076A>C, XM_047442809.1:c.2028A>C, XR_007068563.1:n.2196A>C

Select item 14862889258.

rs1486288925 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 2:43982370 (GRCh38)
2:44209509 (GRCh37)
Canonical SPDI:: NC_000002.12:43982369:A:C,NC_000002.12:43982369:A:G
Gene:: LRPPRC (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000028/1 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.43982370A>C, NC_000002.12:g.43982370A>G, NC_000002.11:g.44209509A>C, NC_000002.11:g.44209509A>G, NG_008247.1:g.18636T>G, NG_008247.1:g.18636T>C, NM_133259.4:c.214T>G, NM_133259.4:c.214T>C, NM_133259.3:c.214T>G, NM_133259.3:c.214T>C, XM_006711916.4:c.214T>G, XM_006711916.4:c.214T>C, XM_006711916.3:c.214T>G, XM_006711916.3:c.214T>C, XM_006711916.2:c.214T>G, XM_006711916.2:c.214T>C, XM_006711916.1:c.214T>G, XM_006711916.1:c.214T>C, XM_006711915.3:c.136T>G, XM_006711915.3:c.136T>C, XM_006711915.2:c.136T>G, XM_006711915.2:c.136T>C, XM_006711915.1:c.136T>G, XM_006711915.1:c.136T>C, XM_047442809.1:c.88T>G, XM_047442809.1:c.88T>C, XR_007068563.1:n.256T>G, XR_007068563.1:n.256T>C, NP_573566.2:p.Ser72Ala, NP_573566.2:p.Ser72Pro, XP_006711979.1:p.Ser72Ala, XP_006711979.1:p.Ser72Pro, XP_006711978.1:p.Ser46Ala, XP_006711978.1:p.Ser46Pro, XP_047298765.1:p.Ser30Ala, XP_047298765.1:p.Ser30Pro

Select item 14862664419.

rs1486266441 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:43979872 (GRCh38)
2:44207011 (GRCh37)
Canonical SPDI:: NC_000002.12:43979871:C:G
Gene:: LRPPRC (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.43979872C>G, NC_000002.11:g.44207011C>G, NG_008247.1:g.21134G>C, NM_133259.4:c.423G>C, NM_133259.3:c.423G>C, XM_006711916.4:c.423G>C, XM_006711916.3:c.423G>C, XM_006711916.2:c.423G>C, XM_006711916.1:c.423G>C, XM_006711915.3:c.345G>C, XM_006711915.2:c.345G>C, XM_006711915.1:c.345G>C, XM_047442809.1:c.297G>C, XR_007068563.1:n.465G>C, NP_573566.2:p.Glu141Asp, XP_006711979.1:p.Glu141Asp, XP_006711978.1:p.Glu115Asp, XP_047298765.1:p.Glu99Asp

Select item 148586772910.

rs1485867729 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:43934202 (GRCh38)
2:44161341 (GRCh37)
Canonical SPDI:: NC_000002.12:43934201:C:A
Gene:: LRPPRC (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000002.12:g.43934202C>A, NC_000002.11:g.44161341C>A, NG_008247.1:g.66804G>T, NM_133259.4:c.2724G>T, NM_133259.3:c.2724G>T, XM_006711916.4:c.2724G>T, XM_006711916.3:c.2724G>T, XM_006711916.2:c.2724G>T, XM_006711916.1:c.2724G>T, XM_006711915.3:c.2646G>T, XM_006711915.2:c.2646G>T, XM_006711915.1:c.2646G>T, XM_047442809.1:c.2598G>T, XR_007068563.1:n.2766G>T, NP_573566.2:p.Lys908Asn, XP_006711979.1:p.Lys908Asn, XP_006711978.1:p.Lys882Asn, XP_047298765.1:p.Lys866Asn

Select item 148484281711.

rs1484842817 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 2:43948455 (GRCh38)
2:44175594 (GRCh37)
Canonical SPDI:: NC_000002.12:43948454:T:C,NC_000002.12:43948454:T:G
Gene:: LRPPRC (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00005/1 (ALFA)
C=0.00004/1 (TOMMO)
HGVS:: NC_000002.12:g.43948455T>C, NC_000002.12:g.43948455T>G, NC_000002.11:g.44175594T>C, NC_000002.11:g.44175594T>G, NG_008247.1:g.52551A>G, NG_008247.1:g.52551A>C, NM_133259.4:c.1799A>G, NM_133259.4:c.1799A>C, NM_133259.3:c.1799A>G, NM_133259.3:c.1799A>C, XM_006711916.4:c.1799A>G, XM_006711916.4:c.1799A>C, XM_006711916.3:c.1799A>G, XM_006711916.3:c.1799A>C, XM_006711916.2:c.1799A>G, XM_006711916.2:c.1799A>C, XM_006711916.1:c.1799A>G, XM_006711916.1:c.1799A>C, XM_006711915.3:c.1721A>G, XM_006711915.3:c.1721A>C, XM_006711915.2:c.1721A>G, XM_006711915.2:c.1721A>C, XM_006711915.1:c.1721A>G, XM_006711915.1:c.1721A>C, XM_047442809.1:c.1673A>G, XM_047442809.1:c.1673A>C, XR_007068563.1:n.1841A>G, XR_007068563.1:n.1841A>C, NP_573566.2:p.Lys600Arg, NP_573566.2:p.Lys600Thr, XP_006711979.1:p.Lys600Arg, XP_006711979.1:p.Lys600Thr, XP_006711978.1:p.Lys574Arg, XP_006711978.1:p.Lys574Thr, XP_047298765.1:p.Lys558Arg, XP_047298765.1:p.Lys558Thr

Select item 148469872212.

rs1484698722 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:43947318 (GRCh38)
2:44174457 (GRCh37)
Canonical SPDI:: NC_000002.12:43947317:G:C
Gene:: LRPPRC (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00013/3 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000002.12:g.43947318G>C, NC_000002.11:g.44174457G>C, NG_008247.1:g.53688C>G, NM_133259.4:c.2018C>G, NM_133259.3:c.2018C>G, XM_006711916.4:c.2018C>G, XM_006711916.3:c.2018C>G, XM_006711916.2:c.2018C>G, XM_006711916.1:c.2018C>G, XM_006711915.3:c.1940C>G, XM_006711915.2:c.1940C>G, XM_006711915.1:c.1940C>G, XM_047442809.1:c.1892C>G, XR_007068563.1:n.2060C>G, NP_573566.2:p.Ala673Gly, XP_006711979.1:p.Ala673Gly, XP_006711978.1:p.Ala647Gly, XP_047298765.1:p.Ala631Gly

Select item 148439981413.

rs1484399814 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 2:43976227 (GRCh38)
2:44203366 (GRCh37)
Canonical SPDI:: NC_000002.12:43976226:T:A,NC_000002.12:43976226:T:C,NC_000002.12:43976226:T:G
Gene:: LRPPRC (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.43976227T>A, NC_000002.12:g.43976227T>C, NC_000002.12:g.43976227T>G, NC_000002.11:g.44203366T>A, NC_000002.11:g.44203366T>C, NC_000002.11:g.44203366T>G, NG_008247.1:g.24779A>T, NG_008247.1:g.24779A>G, NG_008247.1:g.24779A>C, NM_133259.4:c.653A>T, NM_133259.4:c.653A>G, NM_133259.4:c.653A>C, NM_133259.3:c.653A>T, NM_133259.3:c.653A>G, NM_133259.3:c.653A>C, XM_006711916.4:c.653A>T, XM_006711916.4:c.653A>G, XM_006711916.4:c.653A>C, XM_006711916.3:c.653A>T, XM_006711916.3:c.653A>G, XM_006711916.3:c.653A>C, XM_006711916.2:c.653A>T, XM_006711916.2:c.653A>G, XM_006711916.2:c.653A>C, XM_006711916.1:c.653A>T, XM_006711916.1:c.653A>G, XM_006711916.1:c.653A>C, XM_006711915.3:c.575A>T, XM_006711915.3:c.575A>G, XM_006711915.3:c.575A>C, XM_006711915.2:c.575A>T, XM_006711915.2:c.575A>G, XM_006711915.2:c.575A>C, XM_006711915.1:c.575A>T, XM_006711915.1:c.575A>G, XM_006711915.1:c.575A>C, XM_047442809.1:c.527A>T, XM_047442809.1:c.527A>G, XM_047442809.1:c.527A>C, XR_007068563.1:n.695A>T, XR_007068563.1:n.695A>G, XR_007068563.1:n.695A>C, NP_573566.2:p.Lys218Met, NP_573566.2:p.Lys218Arg, NP_573566.2:p.Lys218Thr, XP_006711979.1:p.Lys218Met, XP_006711979.1:p.Lys218Arg, XP_006711979.1:p.Lys218Thr, XP_006711978.1:p.Lys192Met, XP_006711978.1:p.Lys192Arg, XP_006711978.1:p.Lys192Thr, XP_047298765.1:p.Lys176Met, XP_047298765.1:p.Lys176Arg, XP_047298765.1:p.Lys176Thr

Select item 148413762914.

rs1484137629 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:43995850 (GRCh38)
2:44222989 (GRCh37)
Canonical SPDI:: NC_000002.12:43995849:C:T
Gene:: LRPPRC (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.43995850C>T, NC_000002.11:g.44222989C>T, NG_008247.1:g.5156G>A, NM_133259.4:c.98G>A, NM_133259.3:c.98G>A, XM_006711916.4:c.98G>A, XM_006711916.3:c.98G>A, XM_006711916.2:c.98G>A, XM_006711916.1:c.98G>A, XM_006711915.3:c.-6G>A, XM_006711915.2:c.-6G>A, XM_006711915.1:c.-6G>A, XR_007068563.1:n.140G>A, NP_573566.2:p.Arg33Gln, XP_006711979.1:p.Arg33Gln

Select item 148378945315.

rs1483789453 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:43899586 (GRCh38)
2:44126725 (GRCh37)
Canonical SPDI:: NC_000002.12:43899585:T:C
Gene:: LRPPRC (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.43899586T>C, NC_000002.11:g.44126725T>C, NG_008247.1:g.101420A>G, NM_133259.4:c.3589A>G, NM_133259.3:c.3589A>G, XM_006711915.3:c.3511A>G, XM_006711915.2:c.3511A>G, XM_006711915.1:c.3511A>G, XM_047442809.1:c.3463A>G, XR_007068563.1:n.3631A>G, NP_573566.2:p.Ile1197Val, XP_006711978.1:p.Ile1171Val, XP_047298765.1:p.Ile1155Val

Select item 148326888616.

rs1483268886 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:43888627 (GRCh38)
2:44115766 (GRCh37)
Canonical SPDI:: NC_000002.12:43888626:T:C
Gene:: LRPPRC (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.43888627T>C, NC_000002.11:g.44115766T>C, NG_008247.1:g.112379A>G, NM_133259.4:c.4158A>G, NM_133259.3:c.4158A>G, XM_006711915.3:c.4080A>G, XM_006711915.2:c.4080A>G, XM_006711915.1:c.4080A>G, XM_047442809.1:c.4032A>G

Select item 148292851717.

rs1482928517 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 2:43973878 (GRCh38)
2:44201017 (GRCh37)
Canonical SPDI:: NC_000002.12:43973877:T:C,NC_000002.12:43973877:T:G
Gene:: LRPPRC (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.43973878T>C, NC_000002.12:g.43973878T>G, NC_000002.11:g.44201017T>C, NC_000002.11:g.44201017T>G, NG_008247.1:g.27128A>G, NG_008247.1:g.27128A>C, NM_133259.4:c.1178A>G, NM_133259.4:c.1178A>C, NM_133259.3:c.1178A>G, NM_133259.3:c.1178A>C, XM_006711916.4:c.1178A>G, XM_006711916.4:c.1178A>C, XM_006711916.3:c.1178A>G, XM_006711916.3:c.1178A>C, XM_006711916.2:c.1178A>G, XM_006711916.2:c.1178A>C, XM_006711916.1:c.1178A>G, XM_006711916.1:c.1178A>C, XM_006711915.3:c.1100A>G, XM_006711915.3:c.1100A>C, XM_006711915.2:c.1100A>G, XM_006711915.2:c.1100A>C, XM_006711915.1:c.1100A>G, XM_006711915.1:c.1100A>C, XM_047442809.1:c.1052A>G, XM_047442809.1:c.1052A>C, XR_007068563.1:n.1220A>G, XR_007068563.1:n.1220A>C, NP_573566.2:p.Tyr393Cys, NP_573566.2:p.Tyr393Ser, XP_006711979.1:p.Tyr393Cys, XP_006711979.1:p.Tyr393Ser, XP_006711978.1:p.Tyr367Cys, XP_006711978.1:p.Tyr367Ser, XP_047298765.1:p.Tyr351Cys, XP_047298765.1:p.Tyr351Ser

Select item 148189272018.

rs1481892720 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 2:43960610 (GRCh38)
2:44187749 (GRCh37)
Canonical SPDI:: NC_000002.12:43960609:C:G,NC_000002.12:43960609:C:T
Gene:: LRPPRC (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000002.12:g.43960610C>G, NC_000002.12:g.43960610C>T, NC_000002.11:g.44187749C>G, NC_000002.11:g.44187749C>T, NG_008247.1:g.40396G>C, NG_008247.1:g.40396G>A, NM_133259.4:c.1513G>C, NM_133259.4:c.1513G>A, NM_133259.3:c.1513G>C, NM_133259.3:c.1513G>A, XM_006711916.4:c.1513G>C, XM_006711916.4:c.1513G>A, XM_006711916.3:c.1513G>C, XM_006711916.3:c.1513G>A, XM_006711916.2:c.1513G>C, XM_006711916.2:c.1513G>A, XM_006711916.1:c.1513G>C, XM_006711916.1:c.1513G>A, XM_006711915.3:c.1435G>C, XM_006711915.3:c.1435G>A, XM_006711915.2:c.1435G>C, XM_006711915.2:c.1435G>A, XM_006711915.1:c.1435G>C, XM_006711915.1:c.1435G>A, XM_047442809.1:c.1387G>C, XM_047442809.1:c.1387G>A, XR_007068563.1:n.1555G>C, XR_007068563.1:n.1555G>A, NP_573566.2:p.Asp505His, NP_573566.2:p.Asp505Asn, XP_006711979.1:p.Asp505His, XP_006711979.1:p.Asp505Asn, XP_006711978.1:p.Asp479His, XP_006711978.1:p.Asp479Asn, XP_047298765.1:p.Asp463His, XP_047298765.1:p.Asp463Asn

Select item 148074542919.

rs1480745429 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 2:43918040 (GRCh38)
2:44145179 (GRCh37)
Canonical SPDI:: NC_000002.12:43918039:A:G,NC_000002.12:43918039:A:T
Gene:: LRPPRC (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.43918040A>G, NC_000002.12:g.43918040A>T, NC_000002.11:g.44145179A>G, NC_000002.11:g.44145179A>T, NG_008247.1:g.82966T>C, NG_008247.1:g.82966T>A, NM_133259.4:c.3133T>C, NM_133259.4:c.3133T>A, NM_133259.3:c.3133T>C, NM_133259.3:c.3133T>A, XM_006711916.4:c.3133T>C, XM_006711916.4:c.3133T>A, XM_006711916.3:c.3133T>C, XM_006711916.3:c.3133T>A, XM_006711916.2:c.3133T>C, XM_006711916.2:c.3133T>A, XM_006711916.1:c.3133T>C, XM_006711916.1:c.3133T>A, XM_006711915.3:c.3055T>C, XM_006711915.3:c.3055T>A, XM_006711915.2:c.3055T>C, XM_006711915.2:c.3055T>A, XM_006711915.1:c.3055T>C, XM_006711915.1:c.3055T>A, XM_047442809.1:c.3007T>C, XM_047442809.1:c.3007T>A, XR_007068563.1:n.3175T>C, XR_007068563.1:n.3175T>A, NP_573566.2:p.Leu1045Met, XP_006711979.1:p.Leu1045Met, XP_006711978.1:p.Leu1019Met, XP_047298765.1:p.Leu1003Met

Select item 148061682420.

rs1480616824 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:43899568 (GRCh38)
2:44126707 (GRCh37)
Canonical SPDI:: NC_000002.12:43899567:T:C
Gene:: LRPPRC (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000142/2 (ALFA)
C=0./0 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.43899568T>C, NC_000002.11:g.44126707T>C, NG_008247.1:g.101438A>G, NM_133259.4:c.3607A>G, NM_133259.3:c.3607A>G, XM_006711915.3:c.3529A>G, XM_006711915.2:c.3529A>G, XM_006711915.1:c.3529A>G, XM_047442809.1:c.3481A>G, XR_007068563.1:n.3649A>G, NP_573566.2:p.Met1203Val, XP_006711978.1:p.Met1177Val, XP_047298765.1:p.Met1161Val

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