SNP Links for Gene (Select 5265) - SNP

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Select item 14909497421.

rs1490949742 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:94389928 (GRCh38)
14:94856265 (GRCh37)
Canonical SPDI:: NC_000014.9:94389927:A:G
Gene:: SERPINA1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_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_000014.9:g.94389928A>G, NC_000014.8:g.94856265A>G, NG_008290.1:g.5765T>C, NT_187601.1:g.1506500A>G

Select item 14907091512.

rs1490709151 [Homo sapiens]

Variant type:: DELINS
Alleles:: CGGGCAGGAC>- [Show Flanks]
Chromosome:: 14:94388352 (GRCh38)
14:94854689 (GRCh37)
Canonical SPDI:: NC_000014.9:94388347:GGACCGGGCAGGAC:GGAC
Gene:: SERPINA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GGAC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.94388352_94388361del, NC_000014.8:g.94854689_94854698del, NG_008290.1:g.7336_7345del, NT_187601.1:g.1504924_1504933del

Select item 14905490813.

rs1490549081 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:94377182 (GRCh38)
14:94843519 (GRCh37)
Canonical SPDI:: NC_000014.9:94377181:T:C
Gene:: SERPINA1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000014.9:g.94377182T>C, NC_000014.8:g.94843519T>C, NG_008290.1:g.18511A>G, NM_000295.5:c.*1267A>G, NM_000295.4:c.*1267A>G, NM_001002236.3:c.*1267A>G, NM_001002236.2:c.*1267A>G, NM_001002235.3:c.*1267A>G, NM_001002235.2:c.*1267A>G, NM_001127701.2:c.*1267A>G, NM_001127701.1:c.*1267A>G, NM_001127705.2:c.*1267A>G, NM_001127705.1:c.*1267A>G, NM_001127703.2:c.*1267A>G, NM_001127703.1:c.*1267A>G, NM_001127704.2:c.*1267A>G, NM_001127704.1:c.*1267A>G, NM_001127702.2:c.*1267A>G, NM_001127702.1:c.*1267A>G, NM_001127706.2:c.*1267A>G, NM_001127706.1:c.*1267A>G, NM_001127707.2:c.*1267A>G, NM_001127707.1:c.*1267A>G, NM_001127700.2:c.*1267A>G, NM_001127700.1:c.*1267A>G, NT_187601.1:g.1493754T>C, XM_017021370.2:c.*1267A>G, XM_047431479.1:c.*1267A>G, XM_047431478.1:c.*1267A>G

Select item 14903968464.

rs1490396846 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:94381967 (GRCh38)
14:94848304 (GRCh37)
Canonical SPDI:: NC_000014.9:94381966:T:C
Gene:: SERPINA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.94381967T>C, NC_000014.8:g.94848304T>C, NG_008290.1:g.13726A>G, NT_187601.1:g.1498539T>C

Select item 14902346045.

rs1490234604 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:94382432 (GRCh38)
14:94848769 (GRCh37)
Canonical SPDI:: NC_000014.9:94382431:A:G
Gene:: SERPINA1 (Varview)
Functional Consequence:: intron_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_000014.9:g.94382432A>G, NC_000014.8:g.94848769A>G, NG_008290.1:g.13261T>C, NT_187601.1:g.1499004A>G

Select item 14901665736.

rs1490166573 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:94380231 (GRCh38)
14:94846568 (GRCh37)
Canonical SPDI:: NC_000014.9:94380230:A:G
Gene:: SERPINA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.94380231A>G, NC_000014.8:g.94846568A>G, NG_008290.1:g.15462T>C, NT_187601.1:g.1496803A>G

Select item 14901637017.

rs1490163701 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 14:94389511 (GRCh38)
14:94855848 (GRCh37)
Canonical SPDI:: NC_000014.9:94389510:T:A
Gene:: SERPINA1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_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_000014.9:g.94389511T>A, NC_000014.8:g.94855848T>A, NG_008290.1:g.6182A>T, NT_187601.1:g.1506083T>A

Select item 14901332958.

rs1490133295 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 14:94382963 (GRCh38)
14:94849300 (GRCh37)
Canonical SPDI:: NC_000014.9:94382962:G:A,NC_000014.9:94382962:G:C
Gene:: SERPINA1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000024/6 (GnomAD_exomes)
A=0.000121/17 (GnomAD)
A=0.000121/32 (TOPMED)
C=0.001711/5 (KOREAN)
HGVS:: NC_000014.9:g.94382963G>A, NC_000014.9:g.94382963G>C, NC_000014.8:g.94849300G>A, NC_000014.8:g.94849300G>C, NG_008290.1:g.12730C>T, NG_008290.1:g.12730C>G, NM_000295.5:c.275C>T, NM_000295.5:c.275C>G, NM_000295.4:c.275C>T, NM_000295.4:c.275C>G, NM_001002236.3:c.275C>T, NM_001002236.3:c.275C>G, NM_001002236.2:c.275C>T, NM_001002236.2:c.275C>G, NM_001002235.3:c.275C>T, NM_001002235.3:c.275C>G, NM_001002235.2:c.275C>T, NM_001002235.2:c.275C>G, NM_001127701.2:c.275C>T, NM_001127701.2:c.275C>G, NM_001127701.1:c.275C>T, NM_001127701.1:c.275C>G, NM_001127705.2:c.275C>T, NM_001127705.2:c.275C>G, NM_001127705.1:c.275C>T, NM_001127705.1:c.275C>G, NM_001127703.2:c.275C>T, NM_001127703.2:c.275C>G, NM_001127703.1:c.275C>T, NM_001127703.1:c.275C>G, NM_001127704.2:c.275C>T, NM_001127704.2:c.275C>G, NM_001127704.1:c.275C>T, NM_001127704.1:c.275C>G, NM_001127702.2:c.275C>T, NM_001127702.2:c.275C>G, NM_001127702.1:c.275C>T, NM_001127702.1:c.275C>G, NM_001127706.2:c.275C>T, NM_001127706.2:c.275C>G, NM_001127706.1:c.275C>T, NM_001127706.1:c.275C>G, NM_001127707.2:c.275C>T, NM_001127707.2:c.275C>G, NM_001127707.1:c.275C>T, NM_001127707.1:c.275C>G, NM_001127700.2:c.275C>T, NM_001127700.2:c.275C>G, NM_001127700.1:c.275C>T, NM_001127700.1:c.275C>G, NT_187601.1:g.1499535G>A, NT_187601.1:g.1499535G>C, XM_017021370.2:c.275C>T, XM_017021370.2:c.275C>G, XM_017021370.1:c.275C>T, XM_017021370.1:c.275C>G, XM_047431479.1:c.275C>T, XM_047431479.1:c.275C>G, XM_047431478.1:c.275C>T, XM_047431478.1:c.275C>G, NP_000286.3:p.Thr92Ile, NP_000286.3:p.Thr92Ser, NP_001002236.1:p.Thr92Ile, NP_001002236.1:p.Thr92Ser, NP_001002235.1:p.Thr92Ile, NP_001002235.1:p.Thr92Ser, NP_001121173.1:p.Thr92Ile, NP_001121173.1:p.Thr92Ser, NP_001121177.1:p.Thr92Ile, NP_001121177.1:p.Thr92Ser, NP_001121175.1:p.Thr92Ile, NP_001121175.1:p.Thr92Ser, NP_001121176.1:p.Thr92Ile, NP_001121176.1:p.Thr92Ser, NP_001121174.1:p.Thr92Ile, NP_001121174.1:p.Thr92Ser, NP_001121178.1:p.Thr92Ile, NP_001121178.1:p.Thr92Ser, NP_001121179.1:p.Thr92Ile, NP_001121179.1:p.Thr92Ser, NP_001121172.1:p.Thr92Ile, NP_001121172.1:p.Thr92Ser, XP_016876859.1:p.Thr92Ile, XP_016876859.1:p.Thr92Ser, XP_047287435.1:p.Thr92Ile, XP_047287435.1:p.Thr92Ser, XP_047287434.1:p.Thr92Ile, XP_047287434.1:p.Thr92Ser

Select item 14901023979.

rs1490102397 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 14:94376554 (GRCh38)
14:94842891 (GRCh37)
Canonical SPDI:: NC_000014.9:94376553:C:A
Gene:: SERPINA1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
HGVS:: NC_000014.9:g.94376554C>A, NC_000014.8:g.94842891C>A, NG_008290.1:g.19139G>T, NT_187601.1:g.1493126C>A

Select item 149000385110.

rs1490003851 [Homo sapiens]

Variant type:: INS
Alleles:: ->TCAGGCAG [Show Flanks]
Chromosome:: 14:94379848 (GRCh38)
14:94846186 (GRCh37)
Canonical SPDI:: NC_000014.9:94379848::TCAGGCAG
Gene:: SERPINA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCAGGCAG=0.03336/149 (ALFA)
TCAGGCAG=0.03239/145 (Estonian)
TCAGGCAG=0.03829/1082 (TOMMO)
HGVS:: NC_000014.9:g.94379848_94379849insTCAGGCAG, NC_000014.8:g.94846185_94846186insTCAGGCAG, NG_008290.1:g.15844_15845insCTGCCTGA, NT_187601.1:g.1496420_1496421insTCAGGCAG

Select item 148996351311.

rs1489963513 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 14:94390760 (GRCh38)
14:94857097 (GRCh37)
Canonical SPDI:: NC_000014.9:94390759:C:G
Gene:: SERPINA1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_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_000014.9:g.94390760C>G, NC_000014.8:g.94857097C>G, NG_008290.1:g.4933G>C, NT_187601.1:g.1507332C>G

Select item 148995512412.

rs1489955124 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 14:94379453 (GRCh38)
14:94845790 (GRCh37)
Canonical SPDI:: NC_000014.9:94379452:G:A,NC_000014.9:94379452:G:C,NC_000014.9:94379452:G:T
Gene:: SERPINA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.94379453G>A, NC_000014.9:g.94379453G>C, NC_000014.9:g.94379453G>T, NC_000014.8:g.94845790G>A, NC_000014.8:g.94845790G>C, NC_000014.8:g.94845790G>T, NG_008290.1:g.16240C>T, NG_008290.1:g.16240C>G, NG_008290.1:g.16240C>A, NT_187601.1:g.1496025G>A, NT_187601.1:g.1496025G>C, NT_187601.1:g.1496025G>T

Select item 148974369213.

rs1489743692 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:94376657 (GRCh38)
14:94842994 (GRCh37)
Canonical SPDI:: NC_000014.9:94376656:C:T
Gene:: SERPINA1 (Varview)
Functional Consequence:: 500B_downstream_variant,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_000014.9:g.94376657C>T, NC_000014.8:g.94842994C>T, NG_008290.1:g.19036G>A, NT_187601.1:g.1493229C>T

Select item 148966690014.

rs1489666900 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:94377626 (GRCh38)
14:94843963 (GRCh37)
Canonical SPDI:: NC_000014.9:94377625:T:C
Gene:: SERPINA1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.94377626T>C, NC_000014.8:g.94843963T>C, NG_008290.1:g.18067A>G, NM_000295.5:c.*823A>G, NM_000295.4:c.*823A>G, NM_001002236.3:c.*823A>G, NM_001002236.2:c.*823A>G, NM_001002235.3:c.*823A>G, NM_001002235.2:c.*823A>G, NM_001127701.2:c.*823A>G, NM_001127701.1:c.*823A>G, NM_001127705.2:c.*823A>G, NM_001127705.1:c.*823A>G, NM_001127703.2:c.*823A>G, NM_001127703.1:c.*823A>G, NM_001127704.2:c.*823A>G, NM_001127704.1:c.*823A>G, NM_001127702.2:c.*823A>G, NM_001127702.1:c.*823A>G, NM_001127706.2:c.*823A>G, NM_001127706.1:c.*823A>G, NM_001127707.2:c.*823A>G, NM_001127707.1:c.*823A>G, NM_001127700.2:c.*823A>G, NM_001127700.1:c.*823A>G, NT_187601.1:g.1494198T>C, XM_017021370.2:c.*823A>G, XM_047431479.1:c.*823A>G, XM_047431478.1:c.*823A>G

Select item 148958534115.

rs1489585341 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:94390819 (GRCh38)
14:94857156 (GRCh37)
Canonical SPDI:: NC_000014.9:94390818:T:C
Gene:: SERPINA1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.94390819T>C, NC_000014.8:g.94857156T>C, NG_008290.1:g.4874A>G, NT_187601.1:g.1507391T>C

Select item 148950430916.

rs1489504309 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 14:94379745 (GRCh38)
14:94846082 (GRCh37)
Canonical SPDI:: NC_000014.9:94379744:G:C
Gene:: SERPINA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.0018/8 (ALFA)
C=0.0018/8 (Estonian)
HGVS:: NC_000014.9:g.94379745G>C, NC_000014.8:g.94846082G>C, NG_008290.1:g.15948C>G, NT_187601.1:g.1496317G>C

Select item 148929592317.

rs1489295923 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:94384865 (GRCh38)
14:94851202 (GRCh37)
Canonical SPDI:: NC_000014.9:94384864:G:A
Gene:: SERPINA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.94384865G>A, NC_000014.8:g.94851202G>A, NG_008290.1:g.10828C>T, NT_187601.1:g.1501437G>A

Select item 148927266618.

rs1489272666 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:94382719 (GRCh38)
14:94849056 (GRCh37)
Canonical SPDI:: NC_000014.9:94382718:G:A
Gene:: SERPINA1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000056/2 (ALFA)
A=0.000026/7 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000014.9:g.94382719G>A, NC_000014.8:g.94849056G>A, NG_008290.1:g.12974C>T, NM_000295.5:c.519C>T, NM_000295.4:c.519C>T, NM_001002236.3:c.519C>T, NM_001002236.2:c.519C>T, NM_001002235.3:c.519C>T, NM_001002235.2:c.519C>T, NM_001127701.2:c.519C>T, NM_001127701.1:c.519C>T, NM_001127705.2:c.519C>T, NM_001127705.1:c.519C>T, NM_001127703.2:c.519C>T, NM_001127703.1:c.519C>T, NM_001127704.2:c.519C>T, NM_001127704.1:c.519C>T, NM_001127702.2:c.519C>T, NM_001127702.1:c.519C>T, NM_001127706.2:c.519C>T, NM_001127706.1:c.519C>T, NM_001127707.2:c.519C>T, NM_001127707.1:c.519C>T, NM_001127700.2:c.519C>T, NM_001127700.1:c.519C>T, NT_187601.1:g.1499291G>A, XM_017021370.2:c.519C>T, XM_017021370.1:c.519C>T, XM_047431479.1:c.519C>T, XM_047431478.1:c.519C>T

Select item 148925224319.

rs1489252243 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 14:94378400 (GRCh38)
14:94844737 (GRCh37)
Canonical SPDI:: NC_000014.9:94378399:C:G
Gene:: SERPINA1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.94378400C>G, NC_000014.8:g.94844737C>G, NG_008290.1:g.17293G>C, NM_000295.5:c.*49G>C, NM_000295.4:c.*49G>C, NM_001002236.3:c.*49G>C, NM_001002236.2:c.*49G>C, NM_001002235.3:c.*49G>C, NM_001002235.2:c.*49G>C, NM_001127701.2:c.*49G>C, NM_001127701.1:c.*49G>C, NM_001127705.2:c.*49G>C, NM_001127705.1:c.*49G>C, NM_001127703.2:c.*49G>C, NM_001127703.1:c.*49G>C, NM_001127704.2:c.*49G>C, NM_001127704.1:c.*49G>C, NM_001127702.2:c.*49G>C, NM_001127702.1:c.*49G>C, NM_001127706.2:c.*49G>C, NM_001127706.1:c.*49G>C, NM_001127707.2:c.*49G>C, NM_001127707.1:c.*49G>C, NM_001127700.2:c.*49G>C, NM_001127700.1:c.*49G>C, NT_187601.1:g.1494972C>G, XM_017021370.2:c.*49G>C, XM_017021370.1:c.*49G>C, XM_047431479.1:c.*49G>C, XM_047431478.1:c.*49G>C

Select item 148880113820.

rs1488801138 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:94381223 (GRCh38)
14:94847560 (GRCh37)
Canonical SPDI:: NC_000014.9:94381222:C:T
Gene:: SERPINA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.94381223C>T, NC_000014.8:g.94847560C>T, NG_008290.1:g.14470G>A, NT_187601.1:g.1497795C>T

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SNP Links for Gene (Select 5265) (1000)
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