SNP Links for Protein (Select 116734710) - SNP

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Links from Protein

Items: 1 to 20 of 1951

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Select item 14903447211.

rs1490344721 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 16:2285532 (GRCh38)
16:2335533 (GRCh37)
Canonical SPDI:: NC_000016.10:2285531:C:A,NC_000016.10:2285531:C:T
Gene:: ABCA3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_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_000016.10:g.2285532C>A, NC_000016.10:g.2285532C>T, NC_000016.9:g.2335533C>A, NC_000016.9:g.2335533C>T, NG_011790.1:g.60215G>T, NG_011790.1:g.60215G>A, NM_001089.3:c.3393G>T, NM_001089.3:c.3393G>A, NM_001089.2:c.3393G>T, NM_001089.2:c.3393G>A, NP_001080.2:p.Gln1131His

Select item 14893856912.

rs1489385691 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 16:2284313 (GRCh38)
16:2334314 (GRCh37)
Canonical SPDI:: NC_000016.10:2284312:G:T
Gene:: ABCA3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.2284313G>T, NC_000016.9:g.2334314G>T, NG_011790.1:g.61434C>A, NM_001089.3:c.3828C>A, NM_001089.2:c.3828C>A

Select item 14858691213.

rs1485869121 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:2297809 (GRCh38)
16:2347810 (GRCh37)
Canonical SPDI:: NC_000016.10:2297808:C:T
Gene:: ABCA3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.2297809C>T, NC_000016.9:g.2347810C>T, NG_011790.1:g.47938G>A, NM_001089.3:c.2009G>A, NM_001089.2:c.2009G>A, NP_001080.2:p.Arg670Lys

Select item 14853013674.

rs1485301367 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:2279049 (GRCh38)
16:2329050 (GRCh37)
Canonical SPDI:: NC_000016.10:2279048:C:T
Gene:: ABCA3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.2279049C>T, NC_000016.9:g.2329050C>T, NG_011790.1:g.66698G>A, NM_001089.3:c.4441G>A, NM_001089.2:c.4441G>A, NP_001080.2:p.Ala1481Thr

Select item 14847924405.

rs1484792440 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:2281086 (GRCh38)
16:2331087 (GRCh37)
Canonical SPDI:: NC_000016.10:2281085:T:C
Gene:: ABCA3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.2281086T>C, NC_000016.9:g.2331087T>C, NG_011790.1:g.64661A>G, NM_001089.3:c.4300A>G, NM_001089.2:c.4300A>G, NP_001080.2:p.Ser1434Gly

Select item 14846477226.

rs1484647722 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:2326272 (GRCh38)
16:2376273 (GRCh37)
Canonical SPDI:: NC_000016.10:2326271:C:T
Gene:: ABCA3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000016.10:g.2326272C>T, NC_000016.9:g.2376273C>T, NG_011790.1:g.19475G>A, NM_001089.3:c.57G>A, NM_001089.2:c.57G>A

Select item 14844102537.

rs1484410253 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 16:2289499 (GRCh38)
16:2339500 (GRCh37)
Canonical SPDI:: NC_000016.10:2289498:C:A
Gene:: ABCA3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.2289499C>A, NC_000016.9:g.2339500C>A, NG_011790.1:g.56248G>T, NM_001089.3:c.2635G>T, NM_001089.2:c.2635G>T, NP_001080.2:p.Asp879Tyr

Select item 14839232758.

rs1483923275 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:2277634 (GRCh38)
16:2327635 (GRCh37)
Canonical SPDI:: NC_000016.10:2277633:T:C
Gene:: ABCA3 (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=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.2277634T>C, NC_000016.9:g.2327635T>C, NG_011790.1:g.68113A>G, NM_001089.3:c.4946A>G, NM_001089.2:c.4946A>G, NP_001080.2:p.His1649Arg

Select item 14835342649.

rs1483534264 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 16:2308601 (GRCh38)
16:2358602 (GRCh37)
Canonical SPDI:: NC_000016.10:2308600:T:A
Gene:: ABCA3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.2308601T>A, NC_000016.9:g.2358602T>A, NG_011790.1:g.37146A>T, NM_001089.3:c.1134A>T, NM_001089.2:c.1134A>T

Select item 148288141210.

rs1482881412 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:2277957 (GRCh38)
16:2327958 (GRCh37)
Canonical SPDI:: NC_000016.10:2277956:G:A
Gene:: ABCA3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.2277957G>A, NC_000016.9:g.2327958G>A, NG_011790.1:g.67790C>T, NM_001089.3:c.4831C>T, NM_001089.2:c.4831C>T

Select item 148277315211.

rs1482773152 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 16:2317728 (GRCh38)
16:2367729 (GRCh37)
Canonical SPDI:: NC_000016.10:2317727:G:A,NC_000016.10:2317727:G:T
Gene:: ABCA3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000016.10:g.2317728G>A, NC_000016.10:g.2317728G>T, NC_000016.9:g.2367729G>A, NC_000016.9:g.2367729G>T, NG_011790.1:g.28019C>T, NG_011790.1:g.28019C>A, NM_001089.3:c.910C>T, NM_001089.3:c.910C>A, NM_001089.2:c.910C>T, NM_001089.2:c.910C>A, NP_001080.2:p.His304Tyr, NP_001080.2:p.His304Asn

Select item 148241953912.

rs1482419539 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTC>- [Show Flanks]
Chromosome:: 16:2297889 (GRCh38)
16:2347890 (GRCh37)
Canonical SPDI:: NC_000016.10:2297884:CTTCTTC:CTTC
Gene:: ABCA3 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion
Validated:: by frequency,by alfa,by cluster
MAF:: CTTC=0./0 (ALFA)
-=0.000015/4 (TOPMED)
HGVS:: NC_000016.10:g.2297886TTC[1], NC_000016.9:g.2347887TTC[1], NG_011790.1:g.47857AAG[1], NM_001089.3:c.1928AAG[1], NM_001089.2:c.1928AAG[1], NP_001080.2:p.Glu644del

Select item 148094680413.

rs1480946804 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:2284855 (GRCh38)
16:2334856 (GRCh37)
Canonical SPDI:: NC_000016.10:2284854:G:A
Gene:: ABCA3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.2284855G>A, NC_000016.9:g.2334856G>A, NG_011790.1:g.60892C>T, NM_001089.3:c.3627C>T, NM_001089.2:c.3627C>T

Select item 148011668714.

rs1480116687 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:2289581 (GRCh38)
16:2339582 (GRCh37)
Canonical SPDI:: NC_000016.10:2289580:G:A
Gene:: ABCA3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000016.10:g.2289581G>A, NC_000016.9:g.2339582G>A, NG_011790.1:g.56166C>T, NM_001089.3:c.2553C>T, NM_001089.2:c.2553C>T

Select item 147934372115.

rs1479343721 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:2289463 (GRCh38)
16:2339464 (GRCh37)
Canonical SPDI:: NC_000016.10:2289462:C:T
Gene:: ABCA3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.2289463C>T, NC_000016.9:g.2339464C>T, NG_011790.1:g.56284G>A, NM_001089.3:c.2671G>A, NM_001089.2:c.2671G>A, NP_001080.2:p.Glu891Lys

Select item 147762995116.

rs1477629951 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 16:2319679 (GRCh38)
16:2369680 (GRCh37)
Canonical SPDI:: NC_000016.10:2319678:T:A
Gene:: ABCA3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.2319679T>A, NC_000016.9:g.2369680T>A, NG_011790.1:g.26068A>T, NM_001089.3:c.775A>T, NM_001089.2:c.775A>T, NP_001080.2:p.Ile259Phe

Select item 147724038217.

rs1477240382 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:2297770 (GRCh38)
16:2347771 (GRCh37)
Canonical SPDI:: NC_000016.10:2297769:G:C
Gene:: ABCA3 (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)
HGVS:: NC_000016.10:g.2297770G>C, NC_000016.9:g.2347771G>C, NG_011790.1:g.47977C>G, NM_001089.3:c.2048C>G, NM_001089.2:c.2048C>G, NP_001080.2:p.Ser683Cys

Select item 147704107718.

rs1477041077 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:2326019 (GRCh38)
16:2376020 (GRCh37)
Canonical SPDI:: NC_000016.10:2326018:T:C
Gene:: ABCA3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.2326019T>C, NC_000016.9:g.2376020T>C, NG_011790.1:g.19728A>G, NM_001089.3:c.310A>G, NM_001089.2:c.310A>G, NP_001080.2:p.Asn104Asp

Select item 147658511919.

rs1476585119 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:2299412 (GRCh38)
16:2349413 (GRCh37)
Canonical SPDI:: NC_000016.10:2299411:T:C
Gene:: ABCA3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.2299412T>C, NC_000016.9:g.2349413T>C, NG_011790.1:g.46335A>G, NM_001089.3:c.1732A>G, NM_001089.2:c.1732A>G, NP_001080.2:p.Met578Val

Select item 147627842720.

rs1476278427 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:2278035 (GRCh38)
16:2328036 (GRCh37)
Canonical SPDI:: NC_000016.10:2278034:C:T
Gene:: ABCA3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.2278035C>T, NC_000016.9:g.2328036C>T, NG_011790.1:g.67712G>A, NM_001089.3:c.4753G>A, NM_001089.2:c.4753G>A, NP_001080.2:p.Ala1585Thr

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