SNP Links for Gene (Select 276) - SNP

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Select item 14885712081.

rs1488571208 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:103660246 (GRCh38)
1:104202868 (GRCh37)
Canonical SPDI:: NC_000001.11:103660245:G:A
Gene:: AMY1A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000001.11:g.103660246G>A, NC_000001.10:g.104202868G>A

Select item 14873054822.

rs1487305482 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:103655511 (GRCh38)
1:104198133 (GRCh37)
Canonical SPDI:: NC_000001.11:103655510:C:A,NC_000001.11:103655510:C:T
Gene:: AMY1A (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.103655511C>A, NC_000001.11:g.103655511C>T, NC_000001.10:g.104198133C>A, NC_000001.10:g.104198133C>T

Select item 14872391853.

rs1487239185 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:103660556 (GRCh38)
1:104203178 (GRCh37)
Canonical SPDI:: NC_000001.11:103660555:A:T
Gene:: AMY1A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: T=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.103660556A>T, NC_000001.10:g.104203178A>T

Select item 14870083714.

rs1487008371 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:103661061 (GRCh38)
1:104203683 (GRCh37)
Canonical SPDI:: NC_000001.11:103661060:C:T
Gene:: AMY1A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00008/1 (TOMMO)
HGVS:: NC_000001.11:g.103661061C>T, NC_000001.10:g.104203683C>T

Select item 14869797975.

rs1486979797 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:103660467 (GRCh38)
1:104203089 (GRCh37)
Canonical SPDI:: NC_000001.11:103660466:C:T
Gene:: AMY1A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.103660467C>T, NC_000001.10:g.104203089C>T, NM_004038.4:c.986C>T, NM_004038.3:c.986C>T, NM_001008219.2:c.986C>T, NM_001008219.3:c.986C>T, NM_001008219.1:c.986C>T, NM_001008218.1:c.986C>T, NM_001008218.2:c.986C>T, NM_001008221.1:c.986C>T, NP_004029.2:p.Thr329Ile, NP_001008222.1:p.Thr329Ile

Select item 14867941436.

rs1486794143 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:103660791 (GRCh38)
1:104203413 (GRCh37)
Canonical SPDI:: NC_000001.11:103660790:G:T
Gene:: AMY1A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: T=0.00002/2 (GnomAD)
HGVS:: NC_000001.11:g.103660791G>T, NC_000001.10:g.104203413G>T

Select item 14866763167.

rs1486676316 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:103662139 (GRCh38)
1:104204761 (GRCh37)
Canonical SPDI:: NC_000001.11:103662138:A:G
Gene:: AMY1A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.103662139A>G, NC_000001.10:g.104204761A>G

Select item 14865756508.

rs1486575650 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:103660148 (GRCh38)
1:104202770 (GRCh37)
Canonical SPDI:: NC_000001.11:103660147:G:A
Gene:: AMY1A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000001.11:g.103660148G>A, NC_000001.10:g.104202770G>A

Select item 14865259629.

rs1486525962 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:103660644 (GRCh38)
1:104203266 (GRCh37)
Canonical SPDI:: NC_000001.11:103660643:T:G
Gene:: AMY1A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00001/1 (GnomAD)
G=0.00002/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.103660644T>G, NC_000001.10:g.104203266T>G, NM_004038.4:c.1069T>G, NM_004038.3:c.1069T>G, NM_001008219.2:c.1069T>G, NM_001008219.3:c.1069T>G, NM_001008219.1:c.1069T>G, NM_001008218.1:c.1069T>G, NM_001008218.2:c.1069T>G, NM_001008221.1:c.1069T>G, NP_004029.2:p.Tyr357Asp, NP_001008222.1:p.Tyr357Asp

Select item 148554873910.

rs1485548739 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:103660281 (GRCh38)
1:104202903 (GRCh37)
Canonical SPDI:: NC_000001.11:103660280:A:C
Gene:: AMY1A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000001.11:g.103660281A>C, NC_000001.10:g.104202903A>C

Select item 148534464711.

rs1485344647 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:103660908 (GRCh38)
1:104203530 (GRCh37)
Canonical SPDI:: NC_000001.11:103660907:A:G
Gene:: AMY1A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.103660908A>G, NC_000001.10:g.104203530A>G

Select item 148516027212.

rs1485160272 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:103662344 (GRCh38)
1:104204966 (GRCh37)
Canonical SPDI:: NC_000001.11:103662343:G:T
Gene:: AMY1A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000084/1 (ALFA)
T=0.000027/3 (GnomAD)
HGVS:: NC_000001.11:g.103662344G>T, NC_000001.10:g.104204966G>T

Select item 148503886413.

rs1485038864 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:103662608 (GRCh38)
1:104205230 (GRCh37)
Canonical SPDI:: NC_000001.11:103662607:G:A
Gene:: AMY1A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.103662608G>A, NC_000001.10:g.104205230G>A

Select item 148501631514.

rs1485016315 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:103662043 (GRCh38)
1:104204665 (GRCh37)
Canonical SPDI:: NC_000001.11:103662042:G:T
Gene:: AMY1A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.00047/3 (1000Genomes)
HGVS:: NC_000001.11:g.103662043G>T, NC_000001.10:g.104204665G>T

Select item 148466166215.

rs1484661662 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:103662956 (GRCh38)
1:104205578 (GRCh37)
Canonical SPDI:: NC_000001.11:103662955:C:G
Gene:: AMY1A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000001.11:g.103662956C>G, NC_000001.10:g.104205578C>G, NM_004038.4:c.1291C>G, NM_004038.3:c.1291C>G, NM_001008219.2:c.1291C>G, NM_001008219.3:c.1291C>G, NM_001008219.1:c.1291C>G, NM_001008218.1:c.1291C>G, NM_001008218.2:c.1291C>G, NM_001008221.1:c.1291C>G, NP_004029.2:p.Gln431Glu, NP_001008222.1:p.Gln431Glu

Select item 148281630916.

rs1482816309 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:103655468 (GRCh38)
1:104198090 (GRCh37)
Canonical SPDI:: NC_000001.11:103655467:G:T
Gene:: AMY1A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.103655468G>T, NC_000001.10:g.104198090G>T

Select item 148145346017.

rs1481453460 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:103655190 (GRCh38)
1:104197812 (GRCh37)
Canonical SPDI:: NC_000001.11:103655189:G:A
Gene:: AMY1A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.00001/1 (GnomAD)
HGVS:: NC_000001.11:g.103655190G>A, NC_000001.10:g.104197812G>A

Select item 148084533918.

rs1480845339 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:103662740 (GRCh38)
1:104205362 (GRCh37)
Canonical SPDI:: NC_000001.11:103662739:T:C
Gene:: AMY1A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000001.11:g.103662740T>C, NC_000001.10:g.104205362T>C, NM_004038.4:c.1185T>C, NM_004038.3:c.1185T>C, NM_001008219.2:c.1185T>C, NM_001008219.3:c.1185T>C, NM_001008219.1:c.1185T>C, NM_001008218.1:c.1185T>C, NM_001008218.2:c.1185T>C, NM_001008221.1:c.1185T>C

Select item 148056667019.

rs1480566670 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:103661961 (GRCh38)
1:104204583 (GRCh37)
Canonical SPDI:: NC_000001.11:103661960:G:A,NC_000001.11:103661960:G:T
Gene:: AMY1A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.103661961G>A, NC_000001.11:g.103661961G>T, NC_000001.10:g.104204583G>A, NC_000001.10:g.104204583G>T

Select item 147880251020.

rs1478802510 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:103661075 (GRCh38)
1:104203697 (GRCh37)
Canonical SPDI:: NC_000001.11:103661074:T:C
Gene:: AMY1A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00084/10 (ALFA)
C=0.00143/48 (GnomAD)
HGVS:: NC_000001.11:g.103661075T>C, NC_000001.10:g.104203697T>C

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