SNP Links for Protein (Select 216547818) - SNP

Select item 14827455511.

rs1482745551 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:63511808 (GRCh38)
11:63279280 (GRCh37)
Canonical SPDI:: NC_000011.10:63511807:A:G
Gene:: LGALS12 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000011.10:g.63511808A>G, NC_000011.9:g.63279280A>G, NM_033101.4:c.615A>G, NM_033101.3:c.681A>G, XR_950085.3:n.993A>G, XR_950085.2:n.1025A>G, XR_950085.1:n.1025A>G, XR_950087.3:n.993A>G, XR_950087.2:n.1025A>G, XR_950087.1:n.1025A>G, NM_001142537.2:c.498A>G, NM_001142537.1:c.498A>G, NM_001142538.2:c.471A>G, NM_001142538.1:c.471A>G, NM_001142535.2:c.618A>G, NM_001142535.1:c.684A>G, NM_001142536.2:c.588A>G, NM_001142536.1:c.654A>G, XM_017018458.2:c.684A>G, XM_017018458.1:c.684A>G, XR_950086.2:n.993A>G, XR_950086.1:n.1025A>G, XM_047427779.1:c.684A>G, XR_007062516.1:n.990A>G, NP_149092.3:p.Ile205Met, NP_001136009.1:p.Ile166Met, NP_001136010.1:p.Ile157Met, NP_001136007.2:p.Ile206Met, NP_001136008.2:p.Ile196Met, XP_016873947.1:p.Ile228Met, XP_047283735.1:p.Ile228Met

Select item 14819135522.

rs1481913552 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 11:63515696 (GRCh38)
11:63283168 (GRCh37)
Canonical SPDI:: NC_000011.10:63515695:C:A,NC_000011.10:63515695:C:T
Gene:: LGALS12 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,coding_sequence_variant,downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.63515696C>A, NC_000011.10:g.63515696C>T, NC_000011.9:g.63283168C>A, NC_000011.9:g.63283168C>T, NM_033101.4:c.781C>A, NM_033101.4:c.781C>T, NM_033101.3:c.847C>A, NM_033101.3:c.847C>T, NM_001142537.2:c.664C>A, NM_001142537.2:c.664C>T, NM_001142537.1:c.664C>A, NM_001142537.1:c.664C>T, NM_001142538.2:c.637C>A, NM_001142538.2:c.637C>T, NM_001142538.1:c.637C>A, NM_001142538.1:c.637C>T, NM_001142535.2:c.784C>A, NM_001142535.2:c.784C>T, NM_001142535.1:c.850C>A, NM_001142535.1:c.850C>T, NM_001142536.2:c.754C>A, NM_001142536.2:c.754C>T, NM_001142536.1:c.820C>A, NM_001142536.1:c.820C>T, NP_149092.3:p.Pro261Thr, NP_149092.3:p.Pro261Ser, NP_001136009.1:p.Pro222Thr, NP_001136009.1:p.Pro222Ser, NP_001136010.1:p.Pro213Thr, NP_001136010.1:p.Pro213Ser, NP_001136007.2:p.Pro262Thr, NP_001136007.2:p.Pro262Ser, NP_001136008.2:p.Pro252Thr, NP_001136008.2:p.Pro252Ser

Select item 14789399253.

rs1478939925 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 11:63508633 (GRCh38)
11:63276105 (GRCh37)
Canonical SPDI:: NC_000011.10:63508632:T:G
Gene:: LGALS12 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000011.10:g.63508633T>G, NC_000011.9:g.63276105T>G, NM_033101.4:c.150T>G, NM_033101.3:c.216T>G, XR_950085.3:n.525T>G, XR_950085.2:n.557T>G, XR_950085.1:n.557T>G, XR_950087.3:n.525T>G, XR_950087.2:n.557T>G, XR_950087.1:n.557T>G, NM_001142537.2:c.33T>G, NM_001142537.1:c.33T>G, NM_001142538.2:c.33T>G, NM_001142538.1:c.33T>G, NM_001142535.2:c.150T>G, NM_001142535.1:c.216T>G, NM_001142536.2:c.150T>G, NM_001142536.1:c.216T>G, XM_017018458.2:c.216T>G, XM_017018458.1:c.216T>G, XR_950086.2:n.525T>G, XR_950086.1:n.557T>G, XM_047427779.1:c.216T>G, XR_007062516.1:n.525T>G, NP_149092.3:p.Asp50Glu, NP_001136009.1:p.Asp11Glu, NP_001136010.1:p.Asp11Glu, NP_001136007.2:p.Asp50Glu, NP_001136008.2:p.Asp50Glu, XP_016873947.1:p.Asp72Glu, XP_047283735.1:p.Asp72Glu

Select item 14723697554.

rs1472369755 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:63508817 (GRCh38)
11:63276289 (GRCh37)
Canonical SPDI:: NC_000011.10:63508816:C:T
Gene:: LGALS12 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
HGVS:: NC_000011.10:g.63508817C>T, NC_000011.9:g.63276289C>T, NM_033101.4:c.198C>T, NM_033101.3:c.264C>T, XR_950085.3:n.576C>T, XR_950085.2:n.608C>T, XR_950085.1:n.608C>T, XR_950087.3:n.576C>T, XR_950087.2:n.608C>T, XR_950087.1:n.608C>T, NM_001142537.2:c.81C>T, NM_001142537.1:c.81C>T, NM_001142538.2:c.81C>T, NM_001142538.1:c.81C>T, NM_001142535.2:c.201C>T, NM_001142535.1:c.267C>T, NM_001142536.2:c.198C>T, NM_001142536.1:c.264C>T, XM_017018458.2:c.267C>T, XM_017018458.1:c.267C>T, XR_950086.2:n.576C>T, XR_950086.1:n.608C>T, XM_047427779.1:c.267C>T, XR_007062516.1:n.573C>T

Select item 14680240055.

rs1468024005 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:63516362 (GRCh38)
11:63283834 (GRCh37)
Canonical SPDI:: NC_000011.10:63516361:G:A
Gene:: LGALS12 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.63516362G>A, NC_000011.9:g.63283834G>A, NM_033101.4:c.914G>A, NM_033101.3:c.980G>A, NM_001142537.2:c.797G>A, NM_001142537.1:c.797G>A, NM_001142538.2:c.770G>A, NM_001142538.1:c.770G>A, NM_001142535.2:c.917G>A, NM_001142535.1:c.983G>A, NM_001142536.2:c.887G>A, NM_001142536.1:c.953G>A, XM_017018458.2:c.*85G>A, XM_017018458.1:c.*85G>A, NP_149092.3:p.Gly305Glu, NP_001136009.1:p.Gly266Glu, NP_001136010.1:p.Gly257Glu, NP_001136007.2:p.Gly306Glu, NP_001136008.2:p.Gly296Glu

Select item 14647563196.

rs1464756319 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:63508923 (GRCh38)
11:63276395 (GRCh37)
Canonical SPDI:: NC_000011.10:63508922:C:G
Gene:: LGALS12 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.63508923C>G, NC_000011.9:g.63276395C>G, NM_033101.4:c.304C>G, NM_033101.3:c.370C>G, XR_950085.3:n.682C>G, XR_950085.2:n.714C>G, XR_950085.1:n.714C>G, XR_950087.3:n.682C>G, XR_950087.2:n.714C>G, XR_950087.1:n.714C>G, NM_001142537.2:c.187C>G, NM_001142537.1:c.187C>G, NM_001142538.2:c.187C>G, NM_001142538.1:c.187C>G, NM_001142535.2:c.307C>G, NM_001142535.1:c.373C>G, NM_001142536.2:c.304C>G, NM_001142536.1:c.370C>G, XM_017018458.2:c.373C>G, XM_017018458.1:c.373C>G, XR_950086.2:n.682C>G, XR_950086.1:n.714C>G, XM_047427779.1:c.373C>G, XR_007062516.1:n.679C>G, NP_149092.3:p.Pro102Ala, NP_001136009.1:p.Pro63Ala, NP_001136010.1:p.Pro63Ala, NP_001136007.2:p.Pro103Ala, NP_001136008.2:p.Pro102Ala, XP_016873947.1:p.Pro125Ala, XP_047283735.1:p.Pro125Ala

Select item 14616849877.

rs1461684987 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:63516338 (GRCh38)
11:63283810 (GRCh37)
Canonical SPDI:: NC_000011.10:63516337:A:G
Gene:: LGALS12 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0.0001/1 (ALFA)
HGVS:: NC_000011.10:g.63516338A>G, NC_000011.9:g.63283810A>G, NM_033101.4:c.890A>G, NM_033101.3:c.956A>G, NM_001142537.2:c.773A>G, NM_001142537.1:c.773A>G, NM_001142538.2:c.746A>G, NM_001142538.1:c.746A>G, NM_001142535.2:c.893A>G, NM_001142535.1:c.959A>G, NM_001142536.2:c.863A>G, NM_001142536.1:c.929A>G, XM_017018458.2:c.*61A>G, XM_017018458.1:c.*61A>G, NP_149092.3:p.Gln297Arg, NP_001136009.1:p.Gln258Arg, NP_001136010.1:p.Gln249Arg, NP_001136007.2:p.Gln298Arg, NP_001136008.2:p.Gln288Arg

Select item 14594502728.

rs1459450272 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:63509860 (GRCh38)
11:63277332 (GRCh37)
Canonical SPDI:: NC_000011.10:63509859:A:G
Gene:: LGALS12 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.63509860A>G, NC_000011.9:g.63277332A>G, NM_033101.4:c.455A>G, NM_033101.3:c.521A>G, XR_950085.3:n.833A>G, XR_950085.2:n.865A>G, XR_950085.1:n.865A>G, XR_950087.3:n.833A>G, XR_950087.2:n.865A>G, XR_950087.1:n.865A>G, NM_001142537.2:c.338A>G, NM_001142537.1:c.338A>G, NM_001142538.2:c.338A>G, NM_001142538.1:c.338A>G, NM_001142535.2:c.458A>G, NM_001142535.1:c.524A>G, NM_001142536.2:c.455A>G, NM_001142536.1:c.521A>G, XM_017018458.2:c.524A>G, XM_017018458.1:c.524A>G, XR_950086.2:n.833A>G, XR_950086.1:n.865A>G, XM_047427779.1:c.524A>G, XR_007062516.1:n.830A>G, NP_149092.3:p.Asp152Gly, NP_001136009.1:p.Asp113Gly, NP_001136010.1:p.Asp113Gly, NP_001136007.2:p.Asp153Gly, NP_001136008.2:p.Asp152Gly, XP_016873947.1:p.Asp175Gly, XP_047283735.1:p.Asp175Gly

Select item 14532588549.

rs1453258854 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:63508955 (GRCh38)
11:63276427 (GRCh37)
Canonical SPDI:: NC_000011.10:63508954:C:T
Gene:: LGALS12 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_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.63508955C>T, NC_000011.9:g.63276427C>T, NM_033101.4:c.336C>T, NM_033101.3:c.402C>T, XR_950085.3:n.714C>T, XR_950085.2:n.746C>T, XR_950085.1:n.746C>T, XR_950087.3:n.714C>T, XR_950087.2:n.746C>T, XR_950087.1:n.746C>T, NM_001142537.2:c.219C>T, NM_001142537.1:c.219C>T, NM_001142538.2:c.219C>T, NM_001142538.1:c.219C>T, NM_001142535.2:c.339C>T, NM_001142535.1:c.405C>T, NM_001142536.2:c.336C>T, NM_001142536.1:c.402C>T, XM_017018458.2:c.405C>T, XM_017018458.1:c.405C>T, XR_950086.2:n.714C>T, XR_950086.1:n.746C>T, XM_047427779.1:c.405C>T, XR_007062516.1:n.711C>T

Select item 145151017810.

rs1451510178 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:63511102 (GRCh38)
11:63278574 (GRCh37)
Canonical SPDI:: NC_000011.10:63511101:G:T
Gene:: LGALS12 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.63511102G>T, NC_000011.9:g.63278574G>T, NM_033101.4:c.555G>T, NM_033101.3:c.621G>T, XR_950085.3:n.933G>T, XR_950085.2:n.965G>T, XR_950085.1:n.965G>T, XR_950087.3:n.933G>T, XR_950087.2:n.965G>T, XR_950087.1:n.965G>T, NM_001142537.2:c.438G>T, NM_001142537.1:c.438G>T, NM_001142535.2:c.558G>T, NM_001142535.1:c.624G>T, XM_017018458.2:c.624G>T, XM_017018458.1:c.624G>T, XR_950086.2:n.933G>T, XR_950086.1:n.965G>T, XM_047427779.1:c.624G>T, XR_007062516.1:n.930G>T, NP_149092.3:p.Arg185Ser, NP_001136009.1:p.Arg146Ser, NP_001136007.2:p.Arg186Ser, XP_016873947.1:p.Arg208Ser, XP_047283735.1:p.Arg208Ser

Select item 145055354311.

rs1450553543 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:63511096 (GRCh38)
11:63278568 (GRCh37)
Canonical SPDI:: NC_000011.10:63511095:C:A
Gene:: LGALS12 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000011.10:g.63511096C>A, NC_000011.9:g.63278568C>A, NM_033101.4:c.549C>A, NM_033101.3:c.615C>A, XR_950085.3:n.927C>A, XR_950085.2:n.959C>A, XR_950085.1:n.959C>A, XR_950087.3:n.927C>A, XR_950087.2:n.959C>A, XR_950087.1:n.959C>A, NM_001142537.2:c.432C>A, NM_001142537.1:c.432C>A, NM_001142535.2:c.552C>A, NM_001142535.1:c.618C>A, XM_017018458.2:c.618C>A, XM_017018458.1:c.618C>A, XR_950086.2:n.927C>A, XR_950086.1:n.959C>A, XM_047427779.1:c.618C>A, XR_007062516.1:n.924C>A, NP_149092.3:p.Ser183Arg, NP_001136009.1:p.Ser144Arg, NP_001136007.2:p.Ser184Arg, XP_016873947.1:p.Ser206Arg, XP_047283735.1:p.Ser206Arg

Select item 144730027312.

rs1447300273 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:63515575 (GRCh38)
11:63283047 (GRCh37)
Canonical SPDI:: NC_000011.10:63515574:C:T
Gene:: LGALS12 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_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.63515575C>T, NC_000011.9:g.63283047C>T, NM_033101.4:c.660C>T, NM_033101.3:c.726C>T, XR_950085.3:n.1122C>T, XR_950085.2:n.1154C>T, XR_950085.1:n.1154C>T, XR_950087.3:n.1095C>T, XR_950087.2:n.1127C>T, XR_950087.1:n.1127C>T, NM_001142537.2:c.543C>T, NM_001142537.1:c.543C>T, NM_001142538.2:c.516C>T, NM_001142538.1:c.516C>T, NM_001142535.2:c.663C>T, NM_001142535.1:c.729C>T, NM_001142536.2:c.633C>T, NM_001142536.1:c.699C>T, XR_950086.2:n.1176C>T, XR_950086.1:n.1208C>T, XR_007062516.1:n.1119C>T

Select item 143776703813.

rs1437767038 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:63508824 (GRCh38)
11:63276296 (GRCh37)
Canonical SPDI:: NC_000011.10:63508823:G:C
Gene:: LGALS12 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.63508824G>C, NC_000011.9:g.63276296G>C, NM_033101.4:c.205G>C, NM_033101.3:c.271G>C, XR_950085.3:n.583G>C, XR_950085.2:n.615G>C, XR_950085.1:n.615G>C, XR_950087.3:n.583G>C, XR_950087.2:n.615G>C, XR_950087.1:n.615G>C, NM_001142537.2:c.88G>C, NM_001142537.1:c.88G>C, NM_001142538.2:c.88G>C, NM_001142538.1:c.88G>C, NM_001142535.2:c.208G>C, NM_001142535.1:c.274G>C, NM_001142536.2:c.205G>C, NM_001142536.1:c.271G>C, XM_017018458.2:c.274G>C, XM_017018458.1:c.274G>C, XR_950086.2:n.583G>C, XR_950086.1:n.615G>C, XM_047427779.1:c.274G>C, XR_007062516.1:n.580G>C, NP_149092.3:p.Asp69His, NP_001136009.1:p.Asp30His, NP_001136010.1:p.Asp30His, NP_001136007.2:p.Asp70His, NP_001136008.2:p.Asp69His, XP_016873947.1:p.Asp92His, XP_047283735.1:p.Asp92His

Select item 143685450614.

rs1436854506 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:63515698 (GRCh38)
11:63283170 (GRCh37)
Canonical SPDI:: NC_000011.10:63515697:C:T
Gene:: LGALS12 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,downstream_transcript_variant,genic_downstream_transcript_variant,synonymous_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.63515698C>T, NC_000011.9:g.63283170C>T, NM_033101.4:c.783C>T, NM_033101.3:c.849C>T, NM_001142537.2:c.666C>T, NM_001142537.1:c.666C>T, NM_001142538.2:c.639C>T, NM_001142538.1:c.639C>T, NM_001142535.2:c.786C>T, NM_001142535.1:c.852C>T, NM_001142536.2:c.756C>T, NM_001142536.1:c.822C>T

Select item 143138399615.

rs1431383996 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:63516293 (GRCh38)
11:63283765 (GRCh37)
Canonical SPDI:: NC_000011.10:63516292:G:A
Gene:: LGALS12 (Varview)
Functional Consequence:: 3_prime_UTR_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.63516293G>A, NC_000011.9:g.63283765G>A, NM_033101.4:c.845G>A, NM_033101.3:c.911G>A, NM_001142537.2:c.728G>A, NM_001142537.1:c.728G>A, NM_001142538.2:c.701G>A, NM_001142538.1:c.701G>A, NM_001142535.2:c.848G>A, NM_001142535.1:c.914G>A, NM_001142536.2:c.818G>A, NM_001142536.1:c.884G>A, XM_017018458.2:c.*16G>A, XM_017018458.1:c.*16G>A, NP_149092.3:p.Gly282Glu, NP_001136009.1:p.Gly243Glu, NP_001136010.1:p.Gly234Glu, NP_001136007.2:p.Gly283Glu, NP_001136008.2:p.Gly273Glu

Select item 142897777516.

rs1428977775 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:63516306 (GRCh38)
11:63283778 (GRCh37)
Canonical SPDI:: NC_000011.10:63516305:G:A
Gene:: LGALS12 (Varview)
Functional Consequence:: 3_prime_UTR_variant,synonymous_variant,coding_sequence_variant,genic_downstream_transcript_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_000011.10:g.63516306G>A, NC_000011.9:g.63283778G>A, NM_033101.4:c.858G>A, NM_033101.3:c.924G>A, NM_001142537.2:c.741G>A, NM_001142537.1:c.741G>A, NM_001142538.2:c.714G>A, NM_001142538.1:c.714G>A, NM_001142535.2:c.861G>A, NM_001142535.1:c.927G>A, NM_001142536.2:c.831G>A, NM_001142536.1:c.897G>A, XM_017018458.2:c.*29G>A, XM_017018458.1:c.*29G>A

Select item 142530788217.

rs1425307882 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 11:63516253 (GRCh38)
11:63283725 (GRCh37)
Canonical SPDI:: NC_000011.10:63516252:C:G,NC_000011.10:63516252:C:T
Gene:: LGALS12 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000051/1 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.63516253C>G, NC_000011.10:g.63516253C>T, NC_000011.9:g.63283725C>G, NC_000011.9:g.63283725C>T, NM_033101.4:c.805C>G, NM_033101.4:c.805C>T, NM_033101.3:c.871C>G, NM_033101.3:c.871C>T, NM_001142537.2:c.688C>G, NM_001142537.2:c.688C>T, NM_001142537.1:c.688C>G, NM_001142537.1:c.688C>T, NM_001142538.2:c.661C>G, NM_001142538.2:c.661C>T, NM_001142538.1:c.661C>G, NM_001142538.1:c.661C>T, NM_001142535.2:c.808C>G, NM_001142535.2:c.808C>T, NM_001142535.1:c.874C>G, NM_001142535.1:c.874C>T, NM_001142536.2:c.778C>G, NM_001142536.2:c.778C>T, NM_001142536.1:c.844C>G, NM_001142536.1:c.844C>T, XM_017018458.2:c.735C>G, XM_017018458.2:c.735C>T, XM_017018458.1:c.735C>G, XM_017018458.1:c.735C>T, NP_149092.3:p.Leu269Val, NP_149092.3:p.Leu269Phe, NP_001136009.1:p.Leu230Val, NP_001136009.1:p.Leu230Phe, NP_001136010.1:p.Leu221Val, NP_001136010.1:p.Leu221Phe, NP_001136007.2:p.Leu270Val, NP_001136007.2:p.Leu270Phe, NP_001136008.2:p.Leu260Val, NP_001136008.2:p.Leu260Phe, XP_016873947.1:p.Cys245Trp

Select item 142422951818.

rs1424229518 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:63516298 (GRCh38)
11:63283770 (GRCh37)
Canonical SPDI:: NC_000011.10:63516297:G:A
Gene:: LGALS12 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.63516298G>A, NC_000011.9:g.63283770G>A, NM_033101.4:c.850G>A, NM_033101.3:c.916G>A, NM_001142537.2:c.733G>A, NM_001142537.1:c.733G>A, NM_001142538.2:c.706G>A, NM_001142538.1:c.706G>A, NM_001142535.2:c.853G>A, NM_001142535.1:c.919G>A, NM_001142536.2:c.823G>A, NM_001142536.1:c.889G>A, XM_017018458.2:c.*21G>A, XM_017018458.1:c.*21G>A, NP_149092.3:p.Gly284Arg, NP_001136009.1:p.Gly245Arg, NP_001136010.1:p.Gly236Arg, NP_001136007.2:p.Gly285Arg, NP_001136008.2:p.Gly275Arg

Select item 142190286919.

rs1421902869 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 11:63508973 (GRCh38)
11:63276445 (GRCh37)
Canonical SPDI:: NC_000011.10:63508972:C:A,NC_000011.10:63508972:C:T
Gene:: LGALS12 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.63508973C>A, NC_000011.10:g.63508973C>T, NC_000011.9:g.63276445C>A, NC_000011.9:g.63276445C>T, NM_033101.4:c.354C>A, NM_033101.4:c.354C>T, NM_033101.3:c.420C>A, NM_033101.3:c.420C>T, XR_950085.3:n.732C>A, XR_950085.3:n.732C>T, XR_950085.2:n.764C>A, XR_950085.2:n.764C>T, XR_950085.1:n.764C>A, XR_950085.1:n.764C>T, XR_950087.3:n.732C>A, XR_950087.3:n.732C>T, XR_950087.2:n.764C>A, XR_950087.2:n.764C>T, XR_950087.1:n.764C>A, XR_950087.1:n.764C>T, NM_001142537.2:c.237C>A, NM_001142537.2:c.237C>T, NM_001142537.1:c.237C>A, NM_001142537.1:c.237C>T, NM_001142538.2:c.237C>A, NM_001142538.2:c.237C>T, NM_001142538.1:c.237C>A, NM_001142538.1:c.237C>T, NM_001142535.2:c.357C>A, NM_001142535.2:c.357C>T, NM_001142535.1:c.423C>A, NM_001142535.1:c.423C>T, NM_001142536.2:c.354C>A, NM_001142536.2:c.354C>T, NM_001142536.1:c.420C>A, NM_001142536.1:c.420C>T, XM_017018458.2:c.423C>A, XM_017018458.2:c.423C>T, XM_017018458.1:c.423C>A, XM_017018458.1:c.423C>T, XR_950086.2:n.732C>A, XR_950086.2:n.732C>T, XR_950086.1:n.764C>A, XR_950086.1:n.764C>T, XM_047427779.1:c.423C>A, XM_047427779.1:c.423C>T, XR_007062516.1:n.729C>A, XR_007062516.1:n.729C>T, NP_149092.3:p.Phe118Leu, NP_001136009.1:p.Phe79Leu, NP_001136010.1:p.Phe79Leu, NP_001136007.2:p.Phe119Leu, NP_001136008.2:p.Phe118Leu, XP_016873947.1:p.Phe141Leu, XP_047283735.1:p.Phe141Leu

Select item 141811527920.

rs1418115279 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:63515707 (GRCh38)
11:63283179 (GRCh37)
Canonical SPDI:: NC_000011.10:63515706:C:A
Gene:: LGALS12 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,downstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.63515707C>A, NC_000011.9:g.63283179C>A, NM_033101.4:c.792C>A, NM_033101.3:c.858C>A, NM_001142537.2:c.675C>A, NM_001142537.1:c.675C>A, NM_001142538.2:c.648C>A, NM_001142538.1:c.648C>A, NM_001142535.2:c.795C>A, NM_001142535.1:c.861C>A, NM_001142536.2:c.765C>A, NM_001142536.1:c.831C>A, XM_017018458.2:c.722C>A, XM_017018458.1:c.722C>A, NP_149092.3:p.Phe264Leu, NP_001136009.1:p.Phe225Leu, NP_001136010.1:p.Phe216Leu, NP_001136007.2:p.Phe265Leu, NP_001136008.2:p.Phe255Leu, XP_016873947.1:p.Ser241Tyr

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Result Filters

Validation Status

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Global MAF

Custom range

Additional filters

Display Settings:

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Items: 1 to 20 of 286

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