SNP Links for Protein (Select 28933465) - SNP

Links from Protein

Items: 1 to 20 of 233

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Select item 14876709581.

rs1487670958 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:27801775 (GRCh38)
1:28128286 (GRCh37)
Canonical SPDI:: NC_000001.11:27801774:A:G
Gene:: STX12 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000001.11:g.27801775A>G, NC_000001.10:g.28128286A>G, NM_177424.3:c.386A>G, NM_177424.2:c.386A>G, NP_803173.1:p.Lys129Arg

Select item 14869869942.

rs1486986994 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:27812223 (GRCh38)
1:28138734 (GRCh37)
Canonical SPDI:: NC_000001.11:27812222:T:G
Gene:: STX12 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000001.11:g.27812223T>G, NC_000001.10:g.28138734T>G, NM_177424.3:c.531T>G, NM_177424.2:c.531T>G, NP_803173.1:p.Asp177Glu

Select item 14853248023.

rs1485324802 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:27793583 (GRCh38)
1:28120094 (GRCh37)
Canonical SPDI:: NC_000001.11:27793582:T:G
Gene:: STX12 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.27793583T>G, NC_000001.10:g.28120094T>G, NM_177424.3:c.239T>G, NM_177424.2:c.239T>G, NP_803173.1:p.Leu80Trp

Select item 14830331154.

rs1483033115 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:27801790 (GRCh38)
1:28128301 (GRCh37)
Canonical SPDI:: NC_000001.11:27801789:G:A
Gene:: STX12 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.27801790G>A, NC_000001.10:g.28128301G>A, NM_177424.3:c.401G>A, NM_177424.2:c.401G>A, NP_803173.1:p.Arg134Lys

Select item 14775745605.

rs1477574560 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:27801701 (GRCh38)
1:28128212 (GRCh37)
Canonical SPDI:: NC_000001.11:27801700:A:G
Gene:: STX12 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.27801701A>G, NC_000001.10:g.28128212A>G, NM_177424.3:c.312A>G, NM_177424.2:c.312A>G

Select item 14746174526.

rs1474617452 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:27773346 (GRCh38)
1:28099857 (GRCh37)
Canonical SPDI:: NC_000001.11:27773345:G:A
Gene:: STX12 (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)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.27773346G>A, NC_000001.10:g.28099857G>A, NM_177424.3:c.39G>A, NM_177424.2:c.39G>A

Select item 14712702217.

rs1471270221 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:27793560 (GRCh38)
1:28120071 (GRCh37)
Canonical SPDI:: NC_000001.11:27793559:G:T
Gene:: STX12 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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)
HGVS:: NC_000001.11:g.27793560G>T, NC_000001.10:g.28120071G>T, NM_177424.3:c.216G>T, NM_177424.2:c.216G>T, NP_803173.1:p.Gln72His

Select item 14711702218.

rs1471170221 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:27817918 (GRCh38)
1:28144429 (GRCh37)
Canonical SPDI:: NC_000001.11:27817917:T:C
Gene:: STX12 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.27817918T>C, NC_000001.10:g.28144429T>C, NM_177424.3:c.644T>C, NM_177424.2:c.644T>C, NP_803173.1:p.Leu215Pro

Select item 14688337469.

rs1468833746 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:27817903 (GRCh38)
1:28144414 (GRCh37)
Canonical SPDI:: NC_000001.11:27817902:A:G
Gene:: STX12 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.27817903A>G, NC_000001.10:g.28144414A>G, NM_177424.3:c.629A>G, NM_177424.2:c.629A>G, NP_803173.1:p.His210Arg

Select item 146572177510.

rs1465721775 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:27812165 (GRCh38)
1:28138676 (GRCh37)
Canonical SPDI:: NC_000001.11:27812164:A:G
Gene:: STX12 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000006/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.27812165A>G, NC_000001.10:g.28138676A>G, NM_177424.3:c.473A>G, NM_177424.2:c.473A>G, NP_803173.1:p.His158Arg

Select item 145529753911.

rs1455297539 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:27822272 (GRCh38)
1:28148783 (GRCh37)
Canonical SPDI:: NC_000001.11:27822271:G:A
Gene:: STX12 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000001.11:g.27822272G>A, NC_000001.10:g.28148783G>A, NM_177424.3:c.774G>A, NM_177424.2:c.774G>A

Select item 145503648512.

rs1455036485 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:27819725 (GRCh38)
1:28146236 (GRCh37)
Canonical SPDI:: NC_000001.11:27819724:A:T
Gene:: STX12 (Varview)
Functional Consequence:: coding_sequence_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_000001.11:g.27819725A>T, NC_000001.10:g.28146236A>T, NM_177424.3:c.725A>T, NM_177424.2:c.725A>T, NP_803173.1:p.Tyr242Phe

Select item 145186356013.

rs1451863560 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:27819692 (GRCh38)
1:28146203 (GRCh37)
Canonical SPDI:: NC_000001.11:27819691:A:C
Gene:: STX12 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.27819692A>C, NC_000001.10:g.28146203A>C, NM_177424.3:c.692A>C, NM_177424.2:c.692A>C, NP_803173.1:p.Glu231Ala

Select item 144138341914.

rs1441383419 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:27822233 (GRCh38)
1:28148744 (GRCh37)
Canonical SPDI:: NC_000001.11:27822232:A:G
Gene:: STX12 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.27822233A>G, NC_000001.10:g.28148744A>G, NM_177424.3:c.735A>G, NM_177424.2:c.735A>G

Select item 144063001215.

rs1440630012 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:27773345 (GRCh38)
1:28099856 (GRCh37)
Canonical SPDI:: NC_000001.11:27773344:G:T
Gene:: STX12 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.27773345G>T, NC_000001.10:g.28099856G>T, NM_177424.3:c.38G>T, NM_177424.2:c.38G>T, NP_803173.1:p.Gly13Val

Select item 143990066616.

rs1439900666 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:27810278 (GRCh38)
1:28136789 (GRCh37)
Canonical SPDI:: NC_000001.11:27810277:C:G
Gene:: STX12 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.27810278C>G, NC_000001.10:g.28136789C>G, NM_177424.3:c.459C>G, NM_177424.2:c.459C>G

Select item 143878203417.

rs1438782034 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:27793539 (GRCh38)
1:28120050 (GRCh37)
Canonical SPDI:: NC_000001.11:27793538:G:C
Gene:: STX12 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.27793539G>C, NC_000001.10:g.28120050G>C, NM_177424.3:c.195G>C, NM_177424.2:c.195G>C, NP_803173.1:p.Gln65His

Select item 143511097118.

rs1435110971 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:27812242 (GRCh38)
1:28138753 (GRCh37)
Canonical SPDI:: NC_000001.11:27812241:A:G
Gene:: STX12 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000001.11:g.27812242A>G, NC_000001.10:g.28138753A>G, NM_177424.3:c.550A>G, NM_177424.2:c.550A>G, NP_803173.1:p.Arg184Gly

Select item 142420138619.

rs1424201386 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:27812236 (GRCh38)
1:28138747 (GRCh37)
Canonical SPDI:: NC_000001.11:27812235:A:T
Gene:: STX12 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
HGVS:: NC_000001.11:g.27812236A>T, NC_000001.10:g.28138747A>T, NM_177424.3:c.544A>T, NM_177424.2:c.544A>T, NP_803173.1:p.Lys182Ter

Select item 141789618320.

rs1417896183 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:27812250 (GRCh38)
1:28138761 (GRCh37)
Canonical SPDI:: NC_000001.11:27812249:G:A
Gene:: STX12 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: A=0.000006/1 (GnomAD_exomes)
A=0.000035/1 (TOMMO)
HGVS:: NC_000001.11:g.27812250G>A, NC_000001.10:g.28138761G>A, NM_177424.3:c.558G>A, NM_177424.2:c.558G>A

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