SNP Links for Gene (Select 92292) - SNP

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Select item 14912335701.

rs1491233570 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTTT [Show Flanks]
Chromosome:: 11:58943961 (GRCh38)
11:58711435 (GRCh37)
Canonical SPDI:: NC_000011.10:58943961:TTT:TTTCTTT
Gene:: GLYATL1 (Varview), LOC283194 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTTCTTT=0./0 (ALFA)
TTTC=0.00046/2 (GnomAD)
HGVS:: NC_000011.10:g.58943964_58943965insCTTT, NC_000011.9:g.58711437_58711438insCTTT

Select item 14909190672.

rs1490919067 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 11:58935827 (GRCh38)
11:58703301 (GRCh37)
Canonical SPDI:: NC_000011.10:58935827::A
Gene:: GLYATL1 (Varview), LOC283194 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.58935827_58935828insA, NC_000011.9:g.58703300_58703301insA

Select item 14908689053.

rs1490868905 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:58933044 (GRCh38)
11:58700517 (GRCh37)
Canonical SPDI:: NC_000011.10:58933043:C:T
Gene:: GLYATL1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.58933044C>T, NC_000011.9:g.58700517C>T

Select item 14908142914.

rs1490814291 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:58953126 (GRCh38)
11:58720599 (GRCh37)
Canonical SPDI:: NC_000011.10:58953125:G:A
Gene:: GLYATL1 (Varview), LOC283194 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000011.10:g.58953126G>A, NC_000011.9:g.58720599G>A

Select item 14907504535.

rs1490750453 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 11:58910652 (GRCh38)
11:58678125 (GRCh37)
Canonical SPDI:: NC_000011.10:58910651:G:A,NC_000011.10:58910651:G:C
Gene:: GLYATL1 (Varview), GLYATL2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.58910652G>A, NC_000011.10:g.58910652G>C, NC_000011.9:g.58678125G>A, NC_000011.9:g.58678125G>C

Select item 14905852496.

rs1490585249 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:58910235 (GRCh38)
11:58677708 (GRCh37)
Canonical SPDI:: NC_000011.10:58910234:A:C
Gene:: GLYATL1 (Varview), GLYATL2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.58910235A>C, NC_000011.9:g.58677708A>C

Select item 14903727607.

rs1490372760 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:58944146 (GRCh38)
11:58711619 (GRCh37)
Canonical SPDI:: NC_000011.10:58944145:A:C
Gene:: GLYATL1 (Varview), LOC283194 (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_000011.10:g.58944146A>C, NC_000011.9:g.58711619A>C

Select item 14903718278.

rs1490371827 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:58934055 (GRCh38)
11:58701528 (GRCh37)
Canonical SPDI:: NC_000011.10:58934054:G:A
Gene:: GLYATL1 (Varview), LOC283194 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000086/12 (GnomAD)
A=0.000094/25 (TOPMED)
HGVS:: NC_000011.10:g.58934055G>A, NC_000011.9:g.58701528G>A, NR_033853.2:n.2191C>T, NR_033853.1:n.2191C>T

Select item 14903033359.

rs1490303335 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:58926402 (GRCh38)
11:58693875 (GRCh37)
Canonical SPDI:: NC_000011.10:58926401:G:A
Gene:: GLYATL1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.58926402G>A, NC_000011.9:g.58693875G>A

Select item 149016205510.

rs1490162055 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:58917172 (GRCh38)
11:58684645 (GRCh37)
Canonical SPDI:: NC_000011.10:58917171:A:C
Gene:: GLYATL1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.58917172A>C, NC_000011.9:g.58684645A>C

Select item 149004948111.

rs1490049481 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:58918118 (GRCh38)
11:58685591 (GRCh37)
Canonical SPDI:: NC_000011.10:58918117:G:C
Gene:: GLYATL1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000011.10:g.58918118G>C, NC_000011.9:g.58685591G>C

Select item 149002392412.

rs1490023924 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:58918200 (GRCh38)
11:58685673 (GRCh37)
Canonical SPDI:: NC_000011.10:58918199:T:C
Gene:: GLYATL1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.58918200T>C, NC_000011.9:g.58685673T>C

Select item 148988446913.

rs1489884469 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:58933830 (GRCh38)
11:58701303 (GRCh37)
Canonical SPDI:: NC_000011.10:58933829:C:G
Gene:: GLYATL1 (Varview), LOC283194 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,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_000011.10:g.58933830C>G, NC_000011.9:g.58701303C>G, NR_033853.2:n.2416G>C, NR_033853.1:n.2416G>C

Select item 148977489314.

rs1489774893 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:58950717 (GRCh38)
11:58718190 (GRCh37)
Canonical SPDI:: NC_000011.10:58950716:C:T
Gene:: GLYATL1 (Varview), LOC283194 (Varview)
Functional Consequence:: intron_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_000011.10:g.58950717C>T, NC_000011.9:g.58718190C>T

Select item 148935827115.

rs1489358271 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:58947180 (GRCh38)
11:58714653 (GRCh37)
Canonical SPDI:: NC_000011.10:58947179:G:A
Gene:: GLYATL1 (Varview), LOC283194 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.58947180G>A, NC_000011.9:g.58714653G>A

Select item 148934861516.

rs1489348615 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:58945752 (GRCh38)
11:58713225 (GRCh37)
Canonical SPDI:: NC_000011.10:58945751:A:G
Gene:: GLYATL1 (Varview), LOC283194 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000011.10:g.58945752A>G, NC_000011.9:g.58713225A>G

Select item 148904173317.

rs1489041733 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 11:58904022 (GRCh38)
11:58671495 (GRCh37)
Canonical SPDI:: NC_000011.10:58904021:G:A,NC_000011.10:58904021:G:C
Gene:: GLYATL1 (Varview), GLYATL2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
A=0.001369/4 (KOREAN)
HGVS:: NC_000011.10:g.58904022G>A, NC_000011.10:g.58904022G>C, NC_000011.9:g.58671495G>A, NC_000011.9:g.58671495G>C

Select item 148903696118.

rs1489036961 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:58920952 (GRCh38)
11:58688425 (GRCh37)
Canonical SPDI:: NC_000011.10:58920951:A:G
Gene:: GLYATL1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000026/7 (TOPMED)
HGVS:: NC_000011.10:g.58920952A>G, NC_000011.9:g.58688425A>G

Select item 148893884719.

rs1488938847 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 11:58904571 (GRCh38)
11:58672044 (GRCh37)
Canonical SPDI:: NC_000011.10:58904570:C:G,NC_000011.10:58904570:C:T
Gene:: GLYATL1 (Varview), GLYATL2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000011.10:g.58904571C>G, NC_000011.10:g.58904571C>T, NC_000011.9:g.58672044C>G, NC_000011.9:g.58672044C>T

Select item 148869372420.

rs1488693724 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 11:58939013 (GRCh38)
11:58706486 (GRCh37)
Canonical SPDI:: NC_000011.10:58939012:T:G
Gene:: GLYATL1 (Varview), LOC283194 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000224/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000011.10:g.58939013T>G, NC_000011.9:g.58706486T>G

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