SNP Links for Gene (Select 10249) - SNP

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Select item 14915793811.

rs1491579381 has merged into rs10535978 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTTT [Show Flanks]
Chromosome:: 11:58724610 (GRCh38)
11:58492083 (GRCh37)
Canonical SPDI:: NC_000011.10:58724600:TTTTTTTTTTTT:TTTTTTTTT,NC_000011.10:58724600:TTTTTTTTTTTT:TTTTTTTTTT,NC_000011.10:58724600:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000011.10:58724600:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000011.10:58724600:TTTTTTTTTTTT:TTTTTTTTTTTTTTT
Gene:: GLYAT (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
TT=0.1132/426 (1000Genomes)
TT=0.3046/1174 (ALSPAC)
HGVS:: NC_000011.10:g.58724610_58724612del, NC_000011.10:g.58724611_58724612del, NC_000011.10:g.58724612del, NC_000011.10:g.58724612dup, NC_000011.10:g.58724610_58724612dup, NC_000011.9:g.58492083_58492085del, NC_000011.9:g.58492084_58492085del, NC_000011.9:g.58492085del, NC_000011.9:g.58492085dup, NC_000011.9:g.58492083_58492085dup

Select item 14914986952.

rs1491498695 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GGAA [Show Flanks]
Chromosome:: 11:58728881 (GRCh38)
11:58496355 (GRCh37)
Canonical SPDI:: NC_000011.10:58728881:GAA:GAAGGAA
Gene:: GLYAT (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: GAAGGAA=0./0 (ALFA)
HGVS:: NC_000011.10:g.58728884_58728885insGGAA, NC_000011.9:g.58496357_58496358insGGAA

Select item 14914755753.

rs1491475575 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CGGA,GGGA [Show Flanks]
Chromosome:: 11:58728896 (GRCh38)
11:58496370 (GRCh37)
Canonical SPDI:: NC_000011.10:58728896:GGA:GGACGGA,NC_000011.10:58728896:GGA:GGAGGGA
Gene:: GLYAT (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGAGGGA=0./0 (ALFA)
GGAG=0.00084/76 (GnomAD)
GGAC=0.00406/112 (TOMMO)
HGVS:: NC_000011.10:g.58728899_58728900insCGGA, NC_000011.10:g.58728899_58728900insGGGA, NC_000011.9:g.58496372_58496373insCGGA, NC_000011.9:g.58496372_58496373insGGGA

Select item 14914574414.

rs1491457441 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 11:58728896 (GRCh38)
11:58496369 (GRCh37)
Canonical SPDI:: NC_000011.10:58728895:AG:
Gene:: GLYAT (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.01007/6 (NorthernSweden)
-=0.01764/295 (TOMMO)
-=0.0335/3143 (GnomAD)
HGVS:: NC_000011.10:g.58728896_58728897del, NC_000011.9:g.58496369_58496370del

Select item 14913280975.

rs1491328097 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 11:58728882 (GRCh38)
11:58496355 (GRCh37)
Canonical SPDI:: NC_000011.10:58728880:AGA:A
Gene:: GLYAT (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000011.10:g.58728882_58728883del, NC_000011.9:g.58496355_58496356del

Select item 14912341446.

rs1491234144 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 11:58724600 (GRCh38)
11:58492073 (GRCh37)
Canonical SPDI:: NC_000011.10:58724599:GT:
Gene:: GLYAT (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000011.10:g.58724600_58724601del, NC_000011.9:g.58492073_58492074del

Select item 14909846097.

rs1490984609 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:58725059 (GRCh38)
11:58492532 (GRCh37)
Canonical SPDI:: NC_000011.10:58725058:C:T
Gene:: GLYAT (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_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_000011.10:g.58725059C>T, NC_000011.9:g.58492532C>T

Select item 14909117888.

rs1490911788 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:58724110 (GRCh38)
11:58491583 (GRCh37)
Canonical SPDI:: NC_000011.10:58724109:T:C
Gene:: GLYAT (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.58724110T>C, NC_000011.9:g.58491583T>C

Select item 14908948629.

rs1490894862 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:58710101 (GRCh38)
11:58477574 (GRCh37)
Canonical SPDI:: NC_000011.10:58710100:G:T
Gene:: GLYAT (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000035/1 (TOMMO)
HGVS:: NC_000011.10:g.58710101G>T, NC_000011.9:g.58477574G>T, NM_005838.4:c.*485C>A, NM_005838.3:c.*485C>A, NM_201648.3:c.556C>A, NM_201648.2:c.556C>A, XM_017017087.1:c.364C>A, NP_964011.2:p.His186Asn, XP_016872576.1:p.His122Asn

Select item 149087344310.

rs1490873443 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 11:58709098 (GRCh38)
11:58476571 (GRCh37)
Canonical SPDI:: NC_000011.10:58709097:T:G
Gene:: GLYAT (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.58709098T>G, NC_000011.9:g.58476571T>G, NM_201648.3:c.*668A>C, NM_201648.2:c.*668A>C, XM_017017087.1:c.*668A>C

Select item 149078892211.

rs1490788922 [Homo sapiens]

Variant type:: SNV:
Alleles:: A>C
Chromosome:: no mapping
Canonical SPDI:

Select item 149075463712.

rs1490754637 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:58729507 (GRCh38)
11:58496980 (GRCh37)
Canonical SPDI:: NC_000011.10:58729506:A:G
Gene:: GLYAT (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.58729507A>G, NC_000011.9:g.58496980A>G

Select item 149064640913.

rs1490646409 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:58715704 (GRCh38)
11:58483177 (GRCh37)
Canonical SPDI:: NC_000011.10:58715703:C:T
Gene:: GLYAT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.58715704C>T, NC_000011.9:g.58483177C>T

Select item 149063851714.

rs1490638517 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 11:58716309 (GRCh38)
11:58483782 (GRCh37)
Canonical SPDI:: NC_000011.10:58716308:AAAAA:AAAA
Gene:: GLYAT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.58716313del, NC_000011.9:g.58483786del

Select item 149035577915.

rs1490355779 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:58730988 (GRCh38)
11:58498461 (GRCh37)
Canonical SPDI:: NC_000011.10:58730987:A:G
Gene:: GLYAT (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000023/6 (TOPMED)
HGVS:: NC_000011.10:g.58730988A>G, NC_000011.9:g.58498461A>G

Select item 149027208416.

rs1490272084 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:58733067 (GRCh38)
11:58500540 (GRCh37)
Canonical SPDI:: NC_000011.10:58733066:C:T
Gene:: GLYAT (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000011.10:g.58733067C>T, NC_000011.9:g.58500540C>T

Select item 149026515217.

rs1490265152 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 11:58730785 (GRCh38)
11:58498258 (GRCh37)
Canonical SPDI:: NC_000011.10:58730784:C:G,NC_000011.10:58730784:C:T
Gene:: GLYAT (Varview)
Functional Consequence:: 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.58730785C>G, NC_000011.10:g.58730785C>T, NC_000011.9:g.58498258C>G, NC_000011.9:g.58498258C>T

Select item 149019565418.

rs1490195654 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:58730440 (GRCh38)
11:58497913 (GRCh37)
Canonical SPDI:: NC_000011.10:58730439:A:G
Gene:: GLYAT (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000011.10:g.58730440A>G, NC_000011.9:g.58497913A>G

Select item 149017561419.

rs1490175614 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:58714381 (GRCh38)
11:58481854 (GRCh37)
Canonical SPDI:: NC_000011.10:58714380:G:T
Gene:: GLYAT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000066/1 (ALFA)
T=0.000021/3 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000011.10:g.58714381G>T, NC_000011.9:g.58481854G>T

Select item 148989053920.

rs1489890539 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 11:58708320 (GRCh38)
11:58475793 (GRCh37)
Canonical SPDI:: NC_000011.10:58708319:C:A,NC_000011.10:58708319:C:G
Gene:: GLYAT (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.58708320C>A, NC_000011.10:g.58708320C>G, NC_000011.9:g.58475793C>A, NC_000011.9:g.58475793C>G

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