SNP Links for Protein (Select 73486649) - SNP

Links from Protein

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Select item 14665251921.

rs1466525192 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:60062529 (GRCh38)
11:59830002 (GRCh37)
Canonical SPDI:: NC_000011.10:60062528:A:G
Gene:: MS4A3 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.60062529A>G, NC_000011.9:g.59830002A>G, NW_019805498.1:g.156403A>G, NM_006138.5:c.218A>G, NM_006138.4:c.218A>G, XM_011545363.4:c.38A>G, XM_011545363.3:c.38A>G, XM_011545363.2:c.38A>G, XM_011545363.1:c.38A>G, NP_006129.4:p.Gln73Arg, XP_011543665.1:p.Gln13Arg

Select item 14650059482.

rs1465005948 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:60066991 (GRCh38)
11:59834464 (GRCh37)
Canonical SPDI:: NC_000011.10:60066990:T:C
Gene:: MS4A3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by cluster
HGVS:: NC_000011.10:g.60066991T>C, NC_000011.9:g.59834464T>C, NW_019805498.1:g.160872T>C, NM_006138.5:c.392T>C, NM_006138.4:c.392T>C, XM_011545363.4:c.212T>C, XM_011545363.3:c.212T>C, XM_011545363.2:c.212T>C, XM_011545363.1:c.212T>C, NM_001031809.2:c.254T>C, NM_001031809.1:c.254T>C, NM_001031666.2:c.23T>C, NM_001031666.1:c.23T>C, NP_006129.4:p.Ile131Thr, XP_011543665.1:p.Ile71Thr, NP_001026979.1:p.Ile85Thr, NP_001026836.1:p.Ile8Thr

Select item 14608938873.

rs1460893887 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:60064293 (GRCh38)
11:59831766 (GRCh37)
Canonical SPDI:: NC_000011.10:60064292:C:G
Gene:: MS4A3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.60064293C>G, NC_000011.9:g.59831766C>G, NW_019805498.1:g.158171C>G, NM_006138.5:c.326C>G, NM_006138.4:c.326C>G, XM_011545363.4:c.146C>G, XM_011545363.3:c.146C>G, XM_011545363.2:c.146C>G, XM_011545363.1:c.146C>G, NM_001031809.2:c.188C>G, NM_001031809.1:c.188C>G, NM_001031666.2:c.-44C>G, NM_001031666.1:c.-44C>G, NP_006129.4:p.Ala109Gly, XP_011543665.1:p.Ala49Gly, NP_001026979.1:p.Ala63Gly

Select item 14607419704.

rs1460741970 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:60061202 (GRCh38)
11:59828675 (GRCh37)
Canonical SPDI:: NC_000011.10:60061201:C:T
Gene:: MS4A3 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.60061202C>T, NC_000011.9:g.59828675C>T, NW_019805498.1:g.155076C>T, NM_006138.5:c.42C>T, NM_006138.4:c.42C>T, NM_001031809.2:c.42C>T, NM_001031809.1:c.42C>T

Select item 14521481905.

rs1452148190 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:60070226 (GRCh38)
11:59837699 (GRCh37)
Canonical SPDI:: NC_000011.10:60070225:C:T
Gene:: MS4A3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000013/3 (GnomAD_exomes)
T=0.000019/5 (TOPMED)
HGVS:: NC_000011.10:g.60070226C>T, NC_000011.9:g.59837699C>T, NW_019805498.1:g.164107C>T, NM_006138.5:c.638C>T, NM_006138.4:c.638C>T, XM_011545363.4:c.458C>T, XM_011545363.3:c.458C>T, XM_011545363.2:c.458C>T, XM_011545363.1:c.458C>T, NM_001031809.2:c.500C>T, NM_001031809.1:c.500C>T, NM_001031666.2:c.269C>T, NM_001031666.1:c.269C>T, NP_006129.4:p.Ser213Phe, XP_011543665.1:p.Ser153Phe, NP_001026979.1:p.Ser167Phe, NP_001026836.1:p.Ser90Phe

Select item 14515268126.

rs1451526812 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:60066958 (GRCh38)
11:59834431 (GRCh37)
Canonical SPDI:: NC_000011.10:60066957:A:G
Gene:: MS4A3 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.60066958A>G, NC_000011.9:g.59834431A>G, NW_019805498.1:g.160839A>G, NM_006138.5:c.359A>G, NM_006138.4:c.359A>G, XM_011545363.4:c.179A>G, XM_011545363.3:c.179A>G, XM_011545363.2:c.179A>G, XM_011545363.1:c.179A>G, NM_001031809.2:c.221A>G, NM_001031809.1:c.221A>G, NM_001031666.2:c.-11A>G, NM_001031666.1:c.-11A>G, NP_006129.4:p.Asn120Ser, XP_011543665.1:p.Asn60Ser, NP_001026979.1:p.Asn74Ser

Select item 14505285847.

rs1450528584 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:60069584 (GRCh38)
11:59837057 (GRCh37)
Canonical SPDI:: NC_000011.10:60069583:C:G
Gene:: MS4A3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000011.10:g.60069584C>G, NC_000011.9:g.59837057C>G, NW_019805498.1:g.163465C>G, NM_006138.5:c.524C>G, NM_006138.4:c.524C>G, XM_011545363.4:c.344C>G, XM_011545363.3:c.344C>G, XM_011545363.2:c.344C>G, XM_011545363.1:c.344C>G, NM_001031809.2:c.386C>G, NM_001031809.1:c.386C>G, NM_001031666.2:c.155C>G, NM_001031666.1:c.155C>G, NP_006129.4:p.Ser175Cys, XP_011543665.1:p.Ser115Cys, NP_001026979.1:p.Ser129Cys, NP_001026836.1:p.Ser52Cys

Select item 14470308568.

rs1447030856 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:60066999 (GRCh38)
11:59834472 (GRCh37)
Canonical SPDI:: NC_000011.10:60066998:G:T
Gene:: MS4A3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000011.10:g.60066999G>T, NC_000011.9:g.59834472G>T, NW_019805498.1:g.160880G>T, NM_006138.5:c.400G>T, NM_006138.4:c.400G>T, XM_011545363.4:c.220G>T, XM_011545363.3:c.220G>T, XM_011545363.2:c.220G>T, XM_011545363.1:c.220G>T, NM_001031809.2:c.262G>T, NM_001031809.1:c.262G>T, NM_001031666.2:c.31G>T, NM_001031666.1:c.31G>T, NP_006129.4:p.Val134Leu, XP_011543665.1:p.Val74Leu, NP_001026979.1:p.Val88Leu, NP_001026836.1:p.Val11Leu

Select item 14417894189.

rs1441789418 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 11:60061284 (GRCh38)
11:59828757 (GRCh37)
Canonical SPDI:: NC_000011.10:60061283:G:C,NC_000011.10:60061283:G:T
Gene:: MS4A3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.60061284G>C, NC_000011.10:g.60061284G>T, NC_000011.9:g.59828757G>C, NC_000011.9:g.59828757G>T, NW_019805498.1:g.155158G>C, NW_019805498.1:g.155158G>T, NM_006138.5:c.124G>C, NM_006138.5:c.124G>T, NM_006138.4:c.124G>C, NM_006138.4:c.124G>T, NM_001031809.2:c.124G>C, NM_001031809.2:c.124G>T, NM_001031809.1:c.124G>C, NM_001031809.1:c.124G>T, NP_006129.4:p.Asp42His, NP_006129.4:p.Asp42Tyr, NP_001026979.1:p.Asp42His, NP_001026979.1:p.Asp42Tyr

Select item 143678904010.

rs1436789040 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:60069576 (GRCh38)
11:59837049 (GRCh37)
Canonical SPDI:: NC_000011.10:60069575:C:T
Gene:: MS4A3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.60069576C>T, NC_000011.9:g.59837049C>T, NW_019805498.1:g.163457C>T, NM_006138.5:c.516C>T, NM_006138.4:c.516C>T, XM_011545363.4:c.336C>T, XM_011545363.3:c.336C>T, XM_011545363.2:c.336C>T, XM_011545363.1:c.336C>T, NM_001031809.2:c.378C>T, NM_001031809.1:c.378C>T, NM_001031666.2:c.147C>T, NM_001031666.1:c.147C>T

Select item 143625348211.

rs1436253482 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 11:60067095 (GRCh38)
11:59834568 (GRCh37)
Canonical SPDI:: NC_000011.10:60067094:A:T
Gene:: MS4A3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.60067095A>T, NC_000011.9:g.59834568A>T, NW_019805498.1:g.160976A>T, NM_006138.5:c.496A>T, NM_006138.4:c.496A>T, XM_011545363.4:c.316A>T, XM_011545363.3:c.316A>T, XM_011545363.2:c.316A>T, XM_011545363.1:c.316A>T, NM_001031809.2:c.358A>T, NM_001031809.1:c.358A>T, NM_001031666.2:c.127A>T, NM_001031666.1:c.127A>T, NP_006129.4:p.Met166Leu, XP_011543665.1:p.Met106Leu, NP_001026979.1:p.Met120Leu, NP_001026836.1:p.Met43Leu

Select item 142652578312.

rs1426525783 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:60067055 (GRCh38)
11:59834528 (GRCh37)
Canonical SPDI:: NC_000011.10:60067054:T:C
Gene:: MS4A3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.60067055T>C, NC_000011.9:g.59834528T>C, NW_019805498.1:g.160936T>C, NM_006138.5:c.456T>C, NM_006138.4:c.456T>C, XM_011545363.4:c.276T>C, XM_011545363.3:c.276T>C, XM_011545363.2:c.276T>C, XM_011545363.1:c.276T>C, NM_001031809.2:c.318T>C, NM_001031809.1:c.318T>C, NM_001031666.2:c.87T>C, NM_001031666.1:c.87T>C

Select item 142246629213.

rs1422466292 [Homo sapiens]

Variant type:: DELINS
Alleles:: AC>- [Show Flanks]
Chromosome:: 11:60062567 (GRCh38)
11:59830040 (GRCh37)
Canonical SPDI:: NC_000011.10:60062565:CAC:C
Gene:: MS4A3 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.60062567_60062568del, NC_000011.9:g.59830040_59830041del, NW_019805498.1:g.156441_156442del, NM_006138.5:c.256_257del, NM_006138.4:c.256_257del, XM_011545363.4:c.76_77del, XM_011545363.3:c.76_77del, XM_011545363.2:c.76_77del, XM_011545363.1:c.76_77del, NP_006129.4:p.Thr86fs, XP_011543665.1:p.Thr26fs

Select item 142115597814.

rs1421155978 [Homo sapiens]

Variant type:: DELINS
Alleles:: CG>- [Show Flanks]
Chromosome:: 11:60061231 (GRCh38)
11:59828704 (GRCh37)
Canonical SPDI:: NC_000011.10:60061229:GCG:G
Gene:: MS4A3 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,intron_variant,frameshift_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.60061231_60061232del, NC_000011.9:g.59828704_59828705del, NW_019805498.1:g.155105_155106del, NM_006138.5:c.71_72del, NM_006138.4:c.71_72del, NM_001031809.2:c.71_72del, NM_001031809.1:c.71_72del, NP_006129.4:p.Ala24fs, NP_001026979.1:p.Ala24fs

Select item 141848050315.

rs1418480503 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 11:60066983 (GRCh38)
11:59834456 (GRCh37)
Canonical SPDI:: NC_000011.10:60066982:T:G
Gene:: MS4A3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.60066983T>G, NC_000011.9:g.59834456T>G, NW_019805498.1:g.160864T>G, NM_006138.5:c.384T>G, NM_006138.4:c.384T>G, XM_011545363.4:c.204T>G, XM_011545363.3:c.204T>G, XM_011545363.2:c.204T>G, XM_011545363.1:c.204T>G, NM_001031809.2:c.246T>G, NM_001031809.1:c.246T>G, NM_001031666.2:c.15T>G, NM_001031666.1:c.15T>G, NP_006129.4:p.Ser128Arg, XP_011543665.1:p.Ser68Arg, NP_001026979.1:p.Ser82Arg, NP_001026836.1:p.Ser5Arg

Select item 141435730216.

rs1414357302 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 11:60067057 (GRCh38)
11:59834530 (GRCh37)
Canonical SPDI:: NC_000011.10:60067056:G:A,NC_000011.10:60067056:G:T
Gene:: MS4A3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.60067057G>A, NC_000011.10:g.60067057G>T, NC_000011.9:g.59834530G>A, NC_000011.9:g.59834530G>T, NW_019805498.1:g.160938G>A, NW_019805498.1:g.160938G>T, NM_006138.5:c.458G>A, NM_006138.5:c.458G>T, NM_006138.4:c.458G>A, NM_006138.4:c.458G>T, XM_011545363.4:c.278G>A, XM_011545363.4:c.278G>T, XM_011545363.3:c.278G>A, XM_011545363.3:c.278G>T, XM_011545363.2:c.278G>A, XM_011545363.2:c.278G>T, XM_011545363.1:c.278G>A, XM_011545363.1:c.278G>T, NM_001031809.2:c.320G>A, NM_001031809.2:c.320G>T, NM_001031809.1:c.320G>A, NM_001031809.1:c.320G>T, NM_001031666.2:c.89G>A, NM_001031666.2:c.89G>T, NM_001031666.1:c.89G>A, NM_001031666.1:c.89G>T, NP_006129.4:p.Cys153Tyr, NP_006129.4:p.Cys153Phe, XP_011543665.1:p.Cys93Tyr, XP_011543665.1:p.Cys93Phe, NP_001026979.1:p.Cys107Tyr, NP_001026979.1:p.Cys107Phe, NP_001026836.1:p.Cys30Tyr, NP_001026836.1:p.Cys30Phe

Select item 140286620517.

rs1402866205 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:60067062 (GRCh38)
11:59834535 (GRCh37)
Canonical SPDI:: NC_000011.10:60067061:T:C
Gene:: MS4A3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.60067062T>C, NC_000011.9:g.59834535T>C, NW_019805498.1:g.160943T>C, NM_006138.5:c.463T>C, NM_006138.4:c.463T>C, XM_011545363.4:c.283T>C, XM_011545363.3:c.283T>C, XM_011545363.2:c.283T>C, XM_011545363.1:c.283T>C, NM_001031809.2:c.325T>C, NM_001031809.1:c.325T>C, NM_001031666.2:c.94T>C, NM_001031666.1:c.94T>C, NP_006129.4:p.Ser155Pro, XP_011543665.1:p.Ser95Pro, NP_001026979.1:p.Ser109Pro, NP_001026836.1:p.Ser32Pro

Select item 140246777718.

rs1402467777 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:60064305 (GRCh38)
11:59831778 (GRCh37)
Canonical SPDI:: NC_000011.10:60064304:C:T
Gene:: MS4A3 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000011.10:g.60064305C>T, NC_000011.9:g.59831778C>T, NW_019805498.1:g.158183C>T, NM_006138.5:c.338C>T, NM_006138.4:c.338C>T, XM_011545363.4:c.158C>T, XM_011545363.3:c.158C>T, XM_011545363.2:c.158C>T, XM_011545363.1:c.158C>T, NM_001031809.2:c.200C>T, NM_001031809.1:c.200C>T, NM_001031666.2:c.-32C>T, NM_001031666.1:c.-32C>T, NP_006129.4:p.Pro113Leu, XP_011543665.1:p.Pro53Leu, NP_001026979.1:p.Pro67Leu

Select item 140174404819.

rs1401744048 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 11:60061167 (GRCh38)
11:59828640 (GRCh37)
Canonical SPDI:: NC_000011.10:60061166:T:G
Gene:: MS4A3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.60061167T>G, NC_000011.9:g.59828640T>G, NW_019805498.1:g.155041T>G, NM_006138.5:c.7T>G, NM_006138.4:c.7T>G, NM_001031809.2:c.7T>G, NM_001031809.1:c.7T>G, NP_006129.4:p.Ser3Ala, NP_001026979.1:p.Ser3Ala

Select item 139930356220.

rs1399303562 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:60069581 (GRCh38)
11:59837054 (GRCh37)
Canonical SPDI:: NC_000011.10:60069580:T:C
Gene:: MS4A3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.60069581T>C, NC_000011.9:g.59837054T>C, NW_019805498.1:g.163462T>C, NM_006138.5:c.521T>C, NM_006138.4:c.521T>C, XM_011545363.4:c.341T>C, XM_011545363.3:c.341T>C, XM_011545363.2:c.341T>C, XM_011545363.1:c.341T>C, NM_001031809.2:c.383T>C, NM_001031809.1:c.383T>C, NM_001031666.2:c.152T>C, NM_001031666.1:c.152T>C, NP_006129.4:p.Val174Ala, XP_011543665.1:p.Val114Ala, NP_001026979.1:p.Val128Ala, NP_001026836.1:p.Val51Ala

dbSNP

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