SNP Links for Protein (Select 21361873) - SNP

Links from Protein

Items: 1 to 20 of 537

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Select item 14907811221.

rs1490781122 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:73391222 (GRCh38)
11:73102267 (GRCh37)
Canonical SPDI:: NC_000011.10:73391221:T:C
Gene:: RELT (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,intron_variant,synonymous_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000011.10:g.73391222T>C, NC_000011.9:g.73102267T>C, NM_032871.4:c.366T>C, NM_032871.3:c.366T>C, NM_152222.2:c.366T>C, NM_152222.1:c.366T>C, XM_047427758.1:c.366T>C, XM_047427757.1:c.366T>C

Select item 14871658902.

rs1487165890 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:73390867 (GRCh38)
11:73101912 (GRCh37)
Canonical SPDI:: NC_000011.10:73390866:A:G
Gene:: RELT (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.73390867A>G, NC_000011.9:g.73101912A>G, NM_032871.4:c.233A>G, NM_032871.3:c.233A>G, NM_152222.2:c.233A>G, NM_152222.1:c.233A>G, XM_047427759.1:c.31A>G, XM_047427760.1:c.31A>G, XM_047427758.1:c.233A>G, XM_047427757.1:c.233A>G, NP_116260.2:p.Glu78Gly, NP_689408.1:p.Glu78Gly, XP_047283715.1:p.Arg11Gly, XP_047283716.1:p.Arg11Gly, XP_047283714.1:p.Glu78Gly, XP_047283713.1:p.Glu78Gly

Select item 14864420863.

rs1486442086 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:73395178 (GRCh38)
11:73106223 (GRCh37)
Canonical SPDI:: NC_000011.10:73395177:C:G
Gene:: RELT (Varview)
Functional Consequence:: missense_variant,downstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.73395178C>G, NC_000011.9:g.73106223C>G, NM_032871.4:c.1138C>G, NM_032871.3:c.1138C>G, NM_152222.2:c.1138C>G, NM_152222.1:c.1138C>G, XM_047427759.1:c.856C>G, XM_047427760.1:c.598C>G, XM_047427761.1:c.562C>G, XM_047427758.1:c.880C>G, NP_116260.2:p.Leu380Val, NP_689408.1:p.Leu380Val, XP_047283715.1:p.Leu286Val, XP_047283716.1:p.Leu200Val, XP_047283717.1:p.Leu188Val, XP_047283714.1:p.Leu294Val

Select item 14824221254.

rs1482422125 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 11:73393837 (GRCh38)
11:73104883 (GRCh37)
Canonical SPDI:: NC_000011.10:73393837:AA:AAA
Gene:: RELT (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.73393839dup, NC_000011.9:g.73104884dup, NM_032871.4:c.628dup, NM_032871.3:c.628dup, NM_152222.2:c.628dup, NM_152222.1:c.628dup, XM_047427759.1:c.346dup, XM_047427760.1:c.88dup, XM_047427761.1:c.52dup, XM_047427758.1:c.370dup, XM_047427757.1:c.628dup, NP_116260.2:p.Ile210fs, NP_689408.1:p.Ile210fs, XP_047283715.1:p.Ile116fs, XP_047283716.1:p.Ile30fs, XP_047283717.1:p.Ile18fs, XP_047283714.1:p.Ile124fs, XP_047283713.1:p.Ile210fs

Select item 14808186555.

rs1480818655 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:73392299 (GRCh38)
11:73103344 (GRCh37)
Canonical SPDI:: NC_000011.10:73392298:G:T
Gene:: RELT (Varview)
Functional Consequence:: intron_variant,synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.73392299G>T, NC_000011.9:g.73103344G>T, NM_032871.4:c.456G>T, NM_032871.3:c.456G>T, NM_152222.2:c.456G>T, NM_152222.1:c.456G>T, XM_047427759.1:c.174G>T, XM_047427757.1:c.456G>T

Select item 14806133476.

rs1480613347 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:73392426 (GRCh38)
11:73103471 (GRCh37)
Canonical SPDI:: NC_000011.10:73392425:G:A
Gene:: RELT (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000042/11 (TOPMED)
A=0.00005/7 (GnomAD)
HGVS:: NC_000011.10:g.73392426G>A, NC_000011.9:g.73103471G>A, NM_032871.4:c.583G>A, NM_032871.3:c.583G>A, NM_152222.2:c.583G>A, NM_152222.1:c.583G>A, XM_047427759.1:c.301G>A, XM_047427761.1:c.-1180G>A, XM_047427757.1:c.583G>A, NP_116260.2:p.Ala195Thr, NP_689408.1:p.Ala195Thr, XP_047283715.1:p.Ala101Thr, XP_047283713.1:p.Ala195Thr

Select item 14800434747.

rs1480043474 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:73394491 (GRCh38)
11:73105536 (GRCh37)
Canonical SPDI:: NC_000011.10:73394490:C:G
Gene:: RELT (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.73394491C>G, NC_000011.9:g.73105536C>G, NM_032871.4:c.803C>G, NM_032871.3:c.803C>G, NM_152222.2:c.803C>G, NM_152222.1:c.803C>G, XM_047427759.1:c.521C>G, XM_047427760.1:c.263C>G, XM_047427761.1:c.227C>G, XM_047427758.1:c.545C>G, XM_047427757.1:c.813C>G, NP_116260.2:p.Pro268Arg, NP_689408.1:p.Pro268Arg, XP_047283715.1:p.Pro174Arg, XP_047283716.1:p.Pro88Arg, XP_047283717.1:p.Pro76Arg, XP_047283714.1:p.Pro182Arg

Select item 14792872718.

rs1479287271 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:73389145 (GRCh38)
11:73100190 (GRCh37)
Canonical SPDI:: NC_000011.10:73389144:A:G
Gene:: RELT (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.73389145A>G, NC_000011.9:g.73100190A>G, NM_032871.4:c.9A>G, NM_032871.3:c.9A>G, NM_152222.2:c.9A>G, NM_152222.1:c.9A>G, XM_047427758.1:c.9A>G, XM_047427757.1:c.9A>G

Select item 14792791229.

rs1479279122 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 11:73391208 (GRCh38)
11:73102253 (GRCh37)
Canonical SPDI:: NC_000011.10:73391207:A:T
Gene:: RELT (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,missense_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_000011.10:g.73391208A>T, NC_000011.9:g.73102253A>T, NM_032871.4:c.352A>T, NM_032871.3:c.352A>T, NM_152222.2:c.352A>T, NM_152222.1:c.352A>T, XM_047427758.1:c.352A>T, XM_047427757.1:c.352A>T, NP_116260.2:p.Thr118Ser, NP_689408.1:p.Thr118Ser, XP_047283714.1:p.Thr118Ser, XP_047283713.1:p.Thr118Ser

Select item 147590463710.

rs1475904637 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:73395147 (GRCh38)
11:73106192 (GRCh37)
Canonical SPDI:: NC_000011.10:73395146:C:G
Gene:: RELT (Varview)
Functional Consequence:: downstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.73395147C>G, NC_000011.9:g.73106192C>G, NM_032871.4:c.1107C>G, NM_032871.3:c.1107C>G, NM_152222.2:c.1107C>G, NM_152222.1:c.1107C>G, XM_047427759.1:c.825C>G, XM_047427760.1:c.567C>G, XM_047427761.1:c.531C>G, XM_047427758.1:c.849C>G

Select item 147366044111.

rs1473660441 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:73392243 (GRCh38)
11:73103288 (GRCh37)
Canonical SPDI:: NC_000011.10:73392242:G:T
Gene:: RELT (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.73392243G>T, NC_000011.9:g.73103288G>T, NM_032871.4:c.400G>T, NM_032871.3:c.400G>T, NM_152222.2:c.400G>T, NM_152222.1:c.400G>T, XM_047427759.1:c.118G>T, XM_047427757.1:c.400G>T, NP_116260.2:p.Val134Leu, NP_689408.1:p.Val134Leu, XP_047283715.1:p.Val40Leu, XP_047283713.1:p.Val134Leu

Select item 147363022812.

rs1473630228 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 11:73393850 (GRCh38)
11:73104895 (GRCh37)
Canonical SPDI:: NC_000011.10:73393849:C:G,NC_000011.10:73393849:C:T
Gene:: RELT (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.73393850C>G, NC_000011.10:g.73393850C>T, NC_000011.9:g.73104895C>G, NC_000011.9:g.73104895C>T, NM_032871.4:c.639C>G, NM_032871.4:c.639C>T, NM_032871.3:c.639C>G, NM_032871.3:c.639C>T, NM_152222.2:c.639C>G, NM_152222.2:c.639C>T, NM_152222.1:c.639C>G, NM_152222.1:c.639C>T, XM_047427759.1:c.357C>G, XM_047427759.1:c.357C>T, XM_047427760.1:c.99C>G, XM_047427760.1:c.99C>T, XM_047427761.1:c.63C>G, XM_047427761.1:c.63C>T, XM_047427758.1:c.381C>G, XM_047427758.1:c.381C>T, XM_047427757.1:c.639C>G, XM_047427757.1:c.639C>T

Select item 147307073213.

rs1473070732 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:73393899 (GRCh38)
11:73104944 (GRCh37)
Canonical SPDI:: NC_000011.10:73393898:T:C
Gene:: RELT (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000011.10:g.73393899T>C, NC_000011.9:g.73104944T>C, NM_032871.4:c.688T>C, NM_032871.3:c.688T>C, NM_152222.2:c.688T>C, NM_152222.1:c.688T>C, XM_047427759.1:c.406T>C, XM_047427760.1:c.148T>C, XM_047427761.1:c.112T>C, XM_047427758.1:c.430T>C, XM_047427757.1:c.688T>C

Select item 147202625914.

rs1472026259 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:73392236 (GRCh38)
11:73103281 (GRCh37)
Canonical SPDI:: NC_000011.10:73392235:C:T
Gene:: RELT (Varview)
Functional Consequence:: intron_variant,synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
T=0.000248/4 (TOMMO)
T=0.001027/3 (KOREAN)
T=0.001092/2 (Korea1K)
HGVS:: NC_000011.10:g.73392236C>T, NC_000011.9:g.73103281C>T, NM_032871.4:c.393C>T, NM_032871.3:c.393C>T, NM_152222.2:c.393C>T, NM_152222.1:c.393C>T, XM_047427759.1:c.111C>T, XM_047427757.1:c.393C>T

Select item 147028755215.

rs1470287552 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:73392249 (GRCh38)
11:73103294 (GRCh37)
Canonical SPDI:: NC_000011.10:73392248:G:A
Gene:: RELT (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.73392249G>A, NC_000011.9:g.73103294G>A, NM_032871.4:c.406G>A, NM_032871.3:c.406G>A, NM_152222.2:c.406G>A, NM_152222.1:c.406G>A, XM_047427759.1:c.124G>A, XM_047427757.1:c.406G>A, NP_116260.2:p.Ala136Thr, NP_689408.1:p.Ala136Thr, XP_047283715.1:p.Ala42Thr, XP_047283713.1:p.Ala136Thr

Select item 147024999716.

rs1470249997 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:73394562 (GRCh38)
11:73105607 (GRCh37)
Canonical SPDI:: NC_000011.10:73394561:G:T
Gene:: RELT (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0.000051/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.73394562G>T, NC_000011.9:g.73105607G>T, NM_032871.4:c.874G>T, NM_032871.3:c.874G>T, NM_152222.2:c.874G>T, NM_152222.1:c.874G>T, XM_047427759.1:c.592G>T, XM_047427760.1:c.334G>T, XM_047427761.1:c.298G>T, XM_047427758.1:c.616G>T, XM_047427757.1:c.884G>T, NP_116260.2:p.Gly292Cys, NP_689408.1:p.Gly292Cys, XP_047283715.1:p.Gly198Cys, XP_047283716.1:p.Gly112Cys, XP_047283717.1:p.Gly100Cys, XP_047283714.1:p.Gly206Cys, XP_047283713.1:p.Trp295Leu

Select item 146800829117.

rs1468008291 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:73394268 (GRCh38)
11:73105313 (GRCh37)
Canonical SPDI:: NC_000011.10:73394267:G:A
Gene:: RELT (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=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.73394268G>A, NC_000011.9:g.73105313G>A, NM_032871.4:c.739G>A, NM_032871.3:c.739G>A, NM_152222.2:c.739G>A, NM_152222.1:c.739G>A, XM_047427759.1:c.457G>A, XM_047427760.1:c.199G>A, XM_047427761.1:c.163G>A, XM_047427758.1:c.481G>A, XM_047427757.1:c.749G>A, NP_116260.2:p.Glu247Lys, NP_689408.1:p.Glu247Lys, XP_047283715.1:p.Glu153Lys, XP_047283716.1:p.Glu67Lys, XP_047283717.1:p.Glu55Lys, XP_047283714.1:p.Glu161Lys, XP_047283713.1:p.Arg250Lys

Select item 146565831718.

rs1465658317 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:73394577 (GRCh38)
11:73105622 (GRCh37)
Canonical SPDI:: NC_000011.10:73394576:C:T
Gene:: RELT (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000011.10:g.73394577C>T, NC_000011.9:g.73105622C>T, NM_032871.4:c.889C>T, NM_032871.3:c.889C>T, NM_152222.2:c.889C>T, NM_152222.1:c.889C>T, XM_047427759.1:c.607C>T, XM_047427760.1:c.349C>T, XM_047427761.1:c.313C>T, XM_047427758.1:c.631C>T, XM_047427757.1:c.899C>T, NP_116260.2:p.Arg297Cys, NP_689408.1:p.Arg297Cys, XP_047283715.1:p.Arg203Cys, XP_047283716.1:p.Arg117Cys, XP_047283717.1:p.Arg105Cys, XP_047283714.1:p.Arg211Cys, XP_047283713.1:p.Pro300Leu

Select item 146339930119.

rs1463399301 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAACAGC>- [Show Flanks]
Chromosome:: 11:73394280 (GRCh38)
11:73105325 (GRCh37)
Canonical SPDI:: NC_000011.10:73394274:ACAGCAAACAGC:ACAGC
Gene:: RELT (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.73394280_73394286del, NC_000011.9:g.73105325_73105331del, NM_032871.4:c.751_757del, NM_032871.3:c.751_757del, NM_152222.2:c.751_757del, NM_152222.1:c.751_757del, XM_047427759.1:c.469_475del, XM_047427760.1:c.211_217del, XM_047427761.1:c.175_181del, XM_047427758.1:c.493_499del, XM_047427757.1:c.761_767del, NP_116260.2:p.Lys251fs, NP_689408.1:p.Lys251fs, XP_047283715.1:p.Lys157fs, XP_047283716.1:p.Lys71fs, XP_047283717.1:p.Lys59fs, XP_047283714.1:p.Lys165fs, XP_047283713.1:p.Gln254fs

Select item 146289036320.

rs1462890363 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:73391160 (GRCh38)
11:73102205 (GRCh37)
Canonical SPDI:: NC_000011.10:73391159:G:C
Gene:: RELT (Varview)
Functional Consequence:: missense_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.73391160G>C, NC_000011.9:g.73102205G>C, NM_032871.4:c.304G>C, NM_032871.3:c.304G>C, NM_152222.2:c.304G>C, NM_152222.1:c.304G>C, XM_047427758.1:c.304G>C, XM_047427757.1:c.304G>C, NP_116260.2:p.Gly102Arg, NP_689408.1:p.Gly102Arg, XP_047283714.1:p.Gly102Arg, XP_047283713.1:p.Gly102Arg

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