SNP Links for Gene (Select 277) - SNP

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Select item 14904994891.

rs1490499489 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:103690886 (GRCh38)
1:104233508 (GRCh37)
Canonical SPDI:: NC_000001.11:103690885:G:A,NC_000001.11:103690885:G:T
Gene:: AMY1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.00037/1 (KOREAN)
A=0.00051/8 (TOMMO)
HGVS:: NC_000001.11:g.103690886G>A, NC_000001.11:g.103690886G>T, NC_000001.10:g.104233508G>A, NC_000001.10:g.104233508G>T

Select item 14898207382.

rs1489820738 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:103691242 (GRCh38)
1:104233864 (GRCh37)
Canonical SPDI:: NC_000001.11:103691241:A:G
Gene:: AMY1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000001.11:g.103691242A>G, NC_000001.10:g.104233864A>G

Select item 14895127693.

rs1489512769 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:103691334 (GRCh38)
1:104233956 (GRCh37)
Canonical SPDI:: NC_000001.11:103691333:A:G
Gene:: AMY1B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00005/1 (GnomAD)
HGVS:: NC_000001.11:g.103691334A>G, NC_000001.10:g.104233956A>G, NM_001008218.2:c.1061T>C, NM_001008218.1:c.1061T>C, NM_001386925.1:c.1061T>C, NP_001008219.1:p.Met354Thr, NP_001373854.1:p.Met354Thr

Select item 14885964224.

rs1488596422 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:103697224 (GRCh38)
1:104239846 (GRCh37)
Canonical SPDI:: NC_000001.11:103697223:C:A,NC_000001.11:103697223:C:T
Gene:: AMY1B (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.103697224C>A, NC_000001.11:g.103697224C>T, NC_000001.10:g.104239846C>A, NC_000001.10:g.104239846C>T

Select item 14872210535.

rs1487221053 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:103691634 (GRCh38)
1:104234256 (GRCh37)
Canonical SPDI:: NC_000001.11:103691633:C:G,NC_000001.11:103691633:C:T
Gene:: AMY1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.103691634C>G, NC_000001.11:g.103691634C>T, NC_000001.10:g.104234256C>G, NC_000001.10:g.104234256C>T

Select item 14848432486.

rs1484843248 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:103697044 (GRCh38)
1:104239666 (GRCh37)
Canonical SPDI:: NC_000001.11:103697043:G:A
Gene:: AMY1B (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.00002/1 (GnomAD)
HGVS:: NC_000001.11:g.103697044G>A, NC_000001.10:g.104239666G>A

Select item 14807208557.

rs1480720855 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT [Show Flanks]
Chromosome:: 1:103691027 (GRCh38)
1:104233649 (GRCh37)
Canonical SPDI:: NC_000001.11:103691026:TTTTTTT:TTTTTT,NC_000001.11:103691026:TTTTTTT:TTTTTTTT
Gene:: AMY1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
-=0.00082/11 (TOMMO)
HGVS:: NC_000001.11:g.103691033del, NC_000001.11:g.103691033dup, NC_000001.10:g.104233655del, NC_000001.10:g.104233655dup

Select item 14801082608.

rs1480108260 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:103697574 (GRCh38)
1:104240196 (GRCh37)
Canonical SPDI:: NC_000001.11:103697573:C:G
Gene:: AMY1B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.00312/37 (ALFA)
HGVS:: NC_000001.11:g.103697574C>G, NC_000001.10:g.104240196C>G

Select item 14795119319.

rs1479511931 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:103690819 (GRCh38)
1:104233441 (GRCh37)
Canonical SPDI:: NC_000001.11:103690818:C:T
Gene:: AMY1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.0011/13 (ALFA)
T=0.00105/34 (GnomAD)
HGVS:: NC_000001.11:g.103690819C>T, NC_000001.10:g.104233441C>T

Select item 147265433410.

rs1472654334 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:103696817 (GRCh38)
1:104239439 (GRCh37)
Canonical SPDI:: NC_000001.11:103696816:G:A
Gene:: AMY1B (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0.00008/1 (ALFA)
A=0.0005/7 (GnomAD)
HGVS:: NC_000001.11:g.103696817G>A, NC_000001.10:g.104239439G>A

Select item 147261578511.

rs1472615785 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:103697280 (GRCh38)
1:104239902 (GRCh37)
Canonical SPDI:: NC_000001.11:103697279:C:A
Gene:: AMY1B (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.02386/283 (ALFA)
C=0.27273/6 (SGDP_PRJ)
HGVS:: NC_000001.11:g.103697280C>A, NC_000001.10:g.104239902C>A

Select item 147017170912.

rs1470171709 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:103691154 (GRCh38)
1:104233776 (GRCh37)
Canonical SPDI:: NC_000001.11:103691153:A:G
Gene:: AMY1B (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.103691154A>G, NC_000001.10:g.104233776A>G

Select item 146965822313.

rs1469658223 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:103696763 (GRCh38)
1:104239385 (GRCh37)
Canonical SPDI:: NC_000001.11:103696762:A:G
Gene:: AMY1B (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.00134/3 (KOREAN)
HGVS:: NC_000001.11:g.103696763A>G, NC_000001.10:g.104239385A>G

Select item 146911536514.

rs1469115365 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:103697220 (GRCh38)
1:104239842 (GRCh37)
Canonical SPDI:: NC_000001.11:103697219:T:C
Gene:: AMY1B (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00042/5 (ALFA)
C=0.00073/11 (TOMMO)
C=0.00293/7 (KOREAN)
C=0.00399/6 (Korea1K)
T=0.5/2 (SGDP_PRJ)
HGVS:: NC_000001.11:g.103697220T>C, NC_000001.10:g.104239842T>C

Select item 146870151615.

rs1468701516 has merged into rs1201653534 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACA>-,CA,CACACA [Show Flanks]
Chromosome:: 1:103691771 (GRCh38)
1:104234393 (GRCh37)
Canonical SPDI:: NC_000001.11:103691759:ACACACACACACACA:ACACACACACA,NC_000001.11:103691759:ACACACACACACACA:ACACACACACACA,NC_000001.11:103691759:ACACACACACACACA:ACACACACACACACACA
Gene:: AMY1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACA=0./0 (ALFA)
-=0.00051/7 (TOMMO)
HGVS:: NC_000001.11:g.103691761CA[5], NC_000001.11:g.103691761CA[6], NC_000001.11:g.103691761CA[8], NC_000001.10:g.104234383CA[5], NC_000001.10:g.104234383CA[6], NC_000001.10:g.104234383CA[8]

Select item 146711830416.

rs1467118304 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:103697416 (GRCh38)
1:104240038 (GRCh37)
Canonical SPDI:: NC_000001.11:103697415:C:T
Gene:: AMY1B (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.103697416C>T, NC_000001.10:g.104240038C>T

Select item 146556592317.

rs1465565923 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:103696550 (GRCh38)
1:104239172 (GRCh37)
Canonical SPDI:: NC_000001.11:103696549:G:A
Gene:: AMY1B (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
HGVS:: NC_000001.11:g.103696550G>A, NC_000001.10:g.104239172G>A

Select item 146475999218.

rs1464759992 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:103690977 (GRCh38)
1:104233599 (GRCh37)
Canonical SPDI:: NC_000001.11:103690976:G:A
Gene:: AMY1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000001.11:g.103690977G>A, NC_000001.10:g.104233599G>A

Select item 146472148119.

rs1464721481 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:103691366 (GRCh38)
1:104233988 (GRCh37)
Canonical SPDI:: NC_000001.11:103691365:C:T
Gene:: AMY1B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000001.11:g.103691366C>T, NC_000001.10:g.104233988C>T, NM_001008218.2:c.1029G>A, NM_001008218.1:c.1029G>A, NM_001386925.1:c.1029G>A, NP_001008219.1:p.Met343Ile, NP_001373854.1:p.Met343Ile

Select item 146296726120.

rs1462967261 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:103691186 (GRCh38)
1:104233808 (GRCh37)
Canonical SPDI:: NC_000001.11:103691185:T:A
Gene:: AMY1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000001.11:g.103691186T>A, NC_000001.10:g.104233808T>A

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