SNP Links for Gene (Select 278) - SNP

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Items: 1 to 20 of 1119

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Select item 14903503201.

rs1490350320 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:103747197 (GRCh38)
1:104289819 (GRCh37)
Canonical SPDI:: NC_000001.11:103747196:G:A
HGVS:: NC_000001.11:g.103747197G>A, NC_000001.10:g.104289819G>A

Select item 14902420272.

rs1490242027 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:103755612 (GRCh38)
1:104298234 (GRCh37)
Canonical SPDI:: NC_000001.11:103755611:T:C
Gene:: AMY1C (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000001.11:g.103755612T>C, NC_000001.10:g.104298234T>C

Select item 14894493723.

rs1489449372 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:103756393 (GRCh38)
1:104299015 (GRCh37)
Canonical SPDI:: NC_000001.11:103756392:A:T
Gene:: AMY1C (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.04991/592 (ALFA)
A=0./0 (SGDP_PRJ)
T=0.0673/121 (KOREAN)
HGVS:: NC_000001.11:g.103756393A>T, NC_000001.10:g.104299015A>T

Select item 14882714374.

rs1488271437 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:103750606 (GRCh38)
1:104293228 (GRCh37)
Canonical SPDI:: NC_000001.11:103750605:A:G
Gene:: AMY1C (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000001.11:g.103750606A>G, NC_000001.10:g.104293228A>G, NM_001008219.3:c.137A>G, NM_001008219.2:c.137A>G, NM_001008219.1:c.137A>G, NM_001346780.1:c.137A>G, NP_001008220.1:p.Tyr46Cys, NP_001333709.1:p.Tyr46Cys

Select item 14877417995.

rs1487741799 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:103747260 (GRCh38)
1:104289882 (GRCh37)
Canonical SPDI:: NC_000001.11:103747259:G:A
Validated:: by frequency,by alfa
MAF:: A=0.00008/1 (ALFA)
HGVS:: NC_000001.11:g.103747260G>A, NC_000001.10:g.104289882G>A

Select item 14874139826.

rs1487413982 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:103750036 (GRCh38)
1:104292658 (GRCh37)
Canonical SPDI:: NC_000001.11:103750035:C:G,NC_000001.11:103750035:C:T
Gene:: AMY1C (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.00012/2 (TOMMO)
HGVS:: NC_000001.11:g.103750036C>G, NC_000001.11:g.103750036C>T, NC_000001.10:g.104292658C>G, NC_000001.10:g.104292658C>T, NM_001008219.3:c.-77C>G, NM_001008219.3:c.-77C>T, NM_001008219.2:c.-77C>G, NM_001008219.2:c.-77C>T, NM_001008219.1:c.-77C>G, NM_001008219.1:c.-77C>T

Select item 14871410127.

rs1487141012 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:103756235 (GRCh38)
1:104298857 (GRCh37)
Canonical SPDI:: NC_000001.11:103756234:G:A,NC_000001.11:103756234:G:T
Gene:: AMY1C (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.103756235G>A, NC_000001.11:g.103756235G>T, NC_000001.10:g.104298857G>A, NC_000001.10:g.104298857G>T

Select item 14868191448.

rs1486819144 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:103750038 (GRCh38)
1:104292660 (GRCh37)
Canonical SPDI:: NC_000001.11:103750037:T:A
Gene:: AMY1C (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.00011/5 (GnomAD)
HGVS:: NC_000001.11:g.103750038T>A, NC_000001.10:g.104292660T>A, NM_001008219.3:c.-75T>A, NM_001008219.2:c.-75T>A, NM_001008219.1:c.-75T>A

Select item 14863084089.

rs1486308408 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:103754885 (GRCh38)
1:104297507 (GRCh37)
Canonical SPDI:: NC_000001.11:103754884:G:C
Gene:: AMY1C (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.103754885G>C, NC_000001.10:g.104297507G>C

Select item 148443289010.

rs1484432890 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:103745076 (GRCh38)
1:104287698 (GRCh37)
Canonical SPDI:: NC_000001.11:103745075:A:C
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000018/1 (GnomAD)
HGVS:: NC_000001.11:g.103745076A>C, NC_000001.10:g.104287698A>C

Select item 148440694111.

rs1484406941 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 1:103749225 (GRCh38)
1:104291847 (GRCh37)
Canonical SPDI:: NC_000001.11:103749224:C:A,NC_000001.11:103749224:C:G
Gene:: AMY1C (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
A=0.00005/4 (GnomAD)
HGVS:: NC_000001.11:g.103749225C>A, NC_000001.11:g.103749225C>G, NC_000001.10:g.104291847C>A, NC_000001.10:g.104291847C>G

Select item 148416984312.

rs1484169843 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:103749457 (GRCh38)
1:104292079 (GRCh37)
Canonical SPDI:: NC_000001.11:103749456:A:G
Gene:: AMY1C (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=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.103749457A>G, NC_000001.10:g.104292079A>G

Select item 148368510413.

rs1483685104 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:103747416 (GRCh38)
1:104290038 (GRCh37)
Canonical SPDI:: NC_000001.11:103747415:A:T
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.103747416A>T, NC_000001.10:g.104290038A>T

Select item 148255408514.

rs1482554085 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:103750171 (GRCh38)
1:104292793 (GRCh37)
Canonical SPDI:: NC_000001.11:103750170:C:A,NC_000001.11:103750170:C:T
Gene:: AMY1C (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
A=0.03582/97 (KOREAN)
HGVS:: NC_000001.11:g.103750171C>A, NC_000001.11:g.103750171C>T, NC_000001.10:g.104292793C>A, NC_000001.10:g.104292793C>T

Select item 148241021115.

rs1482410211 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:103749061 (GRCh38)
1:104291683 (GRCh37)
Canonical SPDI:: NC_000001.11:103749060:G:A
Gene:: AMY1C (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000001.11:g.103749061G>A, NC_000001.10:g.104291683G>A

Select item 148222322516.

rs1482223225 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:103754262 (GRCh38)
1:104296884 (GRCh37)
Canonical SPDI:: NC_000001.11:103754261:G:C
Gene:: AMY1C (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000001.11:g.103754262G>C, NC_000001.10:g.104296884G>C

Select item 148212060217.

rs1482120602 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:103749008 (GRCh38)
1:104291630 (GRCh37)
Canonical SPDI:: NC_000001.11:103749007:C:T
Gene:: AMY1C (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.00042/5 (ALFA)
T=0.00068/35 (GnomAD)
HGVS:: NC_000001.11:g.103749008C>T, NC_000001.10:g.104291630C>T

Select item 148208446918.

rs1482084469 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:103749068 (GRCh38)
1:104291690 (GRCh37)
Canonical SPDI:: NC_000001.11:103749067:C:G
Gene:: AMY1C (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000036/1 (TOMMO)
HGVS:: NC_000001.11:g.103749068C>G, NC_000001.10:g.104291690C>G

Select item 148197733519.

rs1481977335 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:103750537 (GRCh38)
1:104293159 (GRCh37)
Canonical SPDI:: NC_000001.11:103750536:A:G
Gene:: AMY1C (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00003/1 (GnomAD)
G=0.00031/2 (1000Genomes)
HGVS:: NC_000001.11:g.103750537A>G, NC_000001.10:g.104293159A>G, NM_001008219.3:c.68A>G, NM_001008219.2:c.68A>G, NM_001008219.1:c.68A>G, NM_001346780.1:c.68A>G, NP_001008220.1:p.Gln23Arg, NP_001333709.1:p.Gln23Arg

Select item 148110018020.

rs1481100180 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:103755164 (GRCh38)
1:104297786 (GRCh37)
Canonical SPDI:: NC_000001.11:103755163:C:A,NC_000001.11:103755163:C:T
Gene:: AMY1C (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00031/2 (1000Genomes)
HGVS:: NC_000001.11:g.103755164C>A, NC_000001.11:g.103755164C>T, NC_000001.10:g.104297786C>A, NC_000001.10:g.104297786C>T

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