SNP Links for Protein (Select 20070328) - SNP

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:60302675 (GRCh38)
11:60070148 (GRCh37)
Canonical SPDI:: NC_000011.10:60302674:T:C
Gene:: MS4A4A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_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_000011.10:g.60302675T>C, NC_000011.9:g.60070148T>C, NM_024021.4:c.447T>C, NM_024021.3:c.447T>C, NM_148975.3:c.504T>C, NM_148975.2:c.504T>C, NM_016650.1:c.378T>C

Select item 14584734769.

rs1458473476 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 11:60301057 (GRCh38)
11:60068530 (GRCh37)
Canonical SPDI:: NC_000011.10:60301056:G:A,NC_000011.10:60301056:G:T
Gene:: MS4A4A (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.60301057G>A, NC_000011.10:g.60301057G>T, NC_000011.9:g.60068530G>A, NC_000011.9:g.60068530G>T, NM_024021.4:c.330G>A, NM_024021.4:c.330G>T, NM_024021.3:c.330G>A, NM_024021.3:c.330G>T, NM_148975.3:c.387G>A, NM_148975.3:c.387G>T, NM_148975.2:c.387G>A, NM_148975.2:c.387G>T, NM_001243266.2:c.387G>A, NM_001243266.2:c.387G>T, NM_001243266.1:c.387G>A, NM_001243266.1:c.387G>T, NM_016650.1:c.261G>A, NM_016650.1:c.261G>T

Select item 145711405110.

rs1457114051 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:60297243 (GRCh38)
11:60064716 (GRCh37)
Canonical SPDI:: NC_000011.10:60297242:C:G
Gene:: MS4A4A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.60297243C>G, NC_000011.9:g.60064716C>G, NM_024021.4:c.191C>G, NM_024021.3:c.191C>G, NM_148975.3:c.248C>G, NM_148975.2:c.248C>G, NM_001243266.2:c.248C>G, NM_001243266.1:c.248C>G, NM_016650.1:c.122C>G, NP_076926.2:p.Thr64Arg, NP_683876.1:p.Thr83Arg, NP_001230195.1:p.Thr83Arg

Select item 145381936811.

rs1453819368 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:60302702 (GRCh38)
11:60070175 (GRCh37)
Canonical SPDI:: NC_000011.10:60302701:T:C
Gene:: MS4A4A (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.60302702T>C, NC_000011.9:g.60070175T>C, NM_024021.4:c.474T>C, NM_024021.3:c.474T>C, NM_148975.3:c.531T>C, NM_148975.2:c.531T>C, NM_016650.1:c.405T>C

Select item 145308311012.

rs1453083110 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:60302705 (GRCh38)
11:60070178 (GRCh37)
Canonical SPDI:: NC_000011.10:60302704:G:A
Gene:: MS4A4A (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.60302705G>A, NC_000011.9:g.60070178G>A, NM_024021.4:c.477G>A, NM_024021.3:c.477G>A, NM_148975.3:c.534G>A, NM_148975.2:c.534G>A, NM_016650.1:c.408G>A, NP_076926.2:p.Met159Ile, NP_683876.1:p.Met178Ile

Select item 145027059313.

rs1450270593 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 11:60301003 (GRCh38)
11:60068476 (GRCh37)
Canonical SPDI:: NC_000011.10:60301002:T:A
Gene:: MS4A4A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000011.10:g.60301003T>A, NC_000011.9:g.60068476T>A, NM_024021.4:c.276T>A, NM_024021.3:c.276T>A, NM_148975.3:c.333T>A, NM_148975.2:c.333T>A, NM_001243266.2:c.333T>A, NM_001243266.1:c.333T>A, NM_016650.1:c.207T>A, NP_076926.2:p.Phe92Leu, NP_683876.1:p.Phe111Leu, NP_001230195.1:p.Phe111Leu

Select item 144365535814.

rs1443655358 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:60308151 (GRCh38)
11:60075624 (GRCh37)
Canonical SPDI:: NC_000011.10:60308150:A:G
Gene:: MS4A4A (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.60308151A>G, NC_000011.9:g.60075624A>G, NM_024021.4:c.636A>G, NM_024021.3:c.636A>G, NM_148975.3:c.693A>G, NM_148975.2:c.693A>G, NM_001243266.2:c.534A>G, NM_001243266.1:c.534A>G, NM_016650.1:c.567A>G

Select item 143933190215.

rs1439331902 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:60292329 (GRCh38)
11:60059802 (GRCh37)
Canonical SPDI:: NC_000011.10:60292328:A:G
Gene:: MS4A4A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.60292329A>G, NC_000011.9:g.60059802A>G, NM_024021.4:c.89A>G, NM_024021.3:c.89A>G, NM_148975.3:c.146A>G, NM_148975.2:c.146A>G, NM_001243266.2:c.146A>G, NM_001243266.1:c.146A>G, NM_016650.1:c.20A>G, NP_076926.2:p.His30Arg, NP_683876.1:p.His49Arg, NP_001230195.1:p.His49Arg

Select item 142780821816.

rs1427808218 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 11:60306190 (GRCh38)
11:60073664 (GRCh37)
Canonical SPDI:: NC_000011.10:60306190:CCCC:CCCCC
Gene:: MS4A4A (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCC=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.60306194dup, NC_000011.9:g.60073667dup, NM_024021.4:c.584dup, NM_024021.3:c.584dup, NM_148975.3:c.641dup, NM_148975.2:c.641dup, NM_001243266.2:c.482dup, NM_001243266.1:c.482dup, NM_016650.1:c.515dup, NP_076926.2:p.Gly196fs, NP_683876.1:p.Gly215fs, NP_001230195.1:p.Gly162fs

Select item 142487990017.

rs1424879900 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:60302602 (GRCh38)
11:60070075 (GRCh37)
Canonical SPDI:: NC_000011.10:60302601:C:A
Gene:: MS4A4A (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.0002/1 (ALFA)
A=0.0002/1 (Estonian)
HGVS:: NC_000011.10:g.60302602C>A, NC_000011.9:g.60070075C>A, NM_024021.4:c.374C>A, NM_024021.3:c.374C>A, NM_148975.3:c.431C>A, NM_148975.2:c.431C>A, NM_016650.1:c.305C>A, NP_076926.2:p.Ala125Asp, NP_683876.1:p.Ala144Asp

Select item 142290770518.

rs1422907705 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:60302663 (GRCh38)
11:60070136 (GRCh37)
Canonical SPDI:: NC_000011.10:60302662:C:T
Gene:: MS4A4A (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.60302663C>T, NC_000011.9:g.60070136C>T, NM_024021.4:c.435C>T, NM_024021.3:c.435C>T, NM_148975.3:c.492C>T, NM_148975.2:c.492C>T, NM_016650.1:c.366C>T

Select item 141864628519.

rs1418646285 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:60306103 (GRCh38)
11:60073576 (GRCh37)
Canonical SPDI:: NC_000011.10:60306102:C:A
Gene:: MS4A4A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000036/5 (GnomAD)
A=0.000056/14 (GnomAD_exomes)
A=0.000318/5 (TOMMO)
A=0.000546/1 (Korea1K)
HGVS:: NC_000011.10:g.60306103C>A, NC_000011.9:g.60073576C>A, NM_024021.4:c.493C>A, NM_024021.3:c.493C>A, NM_148975.3:c.550C>A, NM_148975.2:c.550C>A, NM_001243266.2:c.391C>A, NM_001243266.1:c.391C>A, NM_016650.1:c.424C>A, NP_076926.2:p.Leu165Met, NP_683876.1:p.Leu184Met, NP_001230195.1:p.Leu131Met

Select item 141501572220.

rs1415015722 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:60297301 (GRCh38)
11:60064774 (GRCh37)
Canonical SPDI:: NC_000011.10:60297300:G:A
Gene:: MS4A4A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.60297301G>A, NC_000011.9:g.60064774G>A, NM_024021.4:c.249G>A, NM_024021.3:c.249G>A, NM_148975.3:c.306G>A, NM_148975.2:c.306G>A, NM_001243266.2:c.306G>A, NM_001243266.1:c.306G>A, NM_016650.1:c.180G>A

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