SNP Links for Gene (Select 3053) - SNP

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Select item 14908926171.

rs1490892617 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 22:20786392 (GRCh38)
22:21140680 (GRCh37)
Canonical SPDI:: NC_000022.11:20786391:A:
Gene:: SERPIND1 (Varview), PI4KA (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.20786392del, NC_000022.10:g.21140680del, NG_033052.2:g.77421del, NG_012076.2:g.17298del

Select item 14903306152.

rs1490330615 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:20787661 (GRCh38)
22:21141949 (GRCh37)
Canonical SPDI:: NC_000022.11:20787660:G:A
Gene:: SERPIND1 (Varview), PI4KA (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.20787661G>A, NC_000022.10:g.21141949G>A, NG_033052.2:g.76152C>T, NG_012076.2:g.18567G>A, NM_000185.4:c.*595G>A, NM_000185.3:c.*595G>A

Select item 14901502053.

rs1490150205 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:20781805 (GRCh38)
22:21136093 (GRCh37)
Canonical SPDI:: NC_000022.11:20781804:C:T
Gene:: SERPIND1 (Varview), PI4KA (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000022.11:g.20781805C>T, NC_000022.10:g.21136093C>T, NG_033052.2:g.82008G>A, NG_012076.2:g.12711C>T

Select item 14897372144.

rs1489737214 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:20772431 (GRCh38)
22:21126719 (GRCh37)
Canonical SPDI:: NC_000022.11:20772430:C:T
Gene:: SERPIND1 (Varview), PI4KA (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.20772431C>T, NC_000022.10:g.21126719C>T, NG_033052.2:g.91382G>A, NG_012076.2:g.3337C>T

Select item 14897106345.

rs1489710634 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:20784431 (GRCh38)
22:21138719 (GRCh37)
Canonical SPDI:: NC_000022.11:20784430:T:C
Gene:: SERPIND1 (Varview), PI4KA (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000022.11:g.20784431T>C, NC_000022.10:g.21138719T>C, NG_033052.2:g.79382A>G, NG_012076.2:g.15337T>C

Select item 14894701776.

rs1489470177 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:20773103 (GRCh38)
22:21127391 (GRCh37)
Canonical SPDI:: NC_000022.11:20773102:G:A
Gene:: SERPIND1 (Varview), PI4KA (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.20773103G>A, NC_000022.10:g.21127391G>A, NG_033052.2:g.90710C>T, NG_012076.2:g.4009G>A

Select item 14891577887.

rs1489157788 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:20777773 (GRCh38)
22:21132061 (GRCh37)
Canonical SPDI:: NC_000022.11:20777772:A:G
Gene:: SERPIND1 (Varview), PI4KA (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_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_000022.11:g.20777773A>G, NC_000022.10:g.21132061A>G, NG_033052.2:g.86040T>C, NG_012076.2:g.8679A>G, NG_075121.1:g.73A>G

Select item 14889354568.

rs1488935456 has merged into rs940118924 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TTT,TTTTT [Show Flanks]
Chromosome:: 22:20777039 (GRCh38)
22:21131327 (GRCh37)
Canonical SPDI:: NC_000022.11:20777033:TTTTTTTTT:TTTTT,NC_000022.11:20777033:TTTTTTTTT:TTTTTT,NC_000022.11:20777033:TTTTTTTTT:TTTTTTTT,NC_000022.11:20777033:TTTTTTTTT:TTTTTTTTTT
Gene:: SERPIND1 (Varview), PI4KA (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTT=0./0 (ALFA)
T=0.000071/1 (TOMMO)
-=0.000117/31 (TOPMED)
HGVS:: NC_000022.11:g.20777039_20777042del, NC_000022.11:g.20777040_20777042del, NC_000022.11:g.20777042del, NC_000022.11:g.20777042dup, NC_000022.10:g.21131327_21131330del, NC_000022.10:g.21131328_21131330del, NC_000022.10:g.21131330del, NC_000022.10:g.21131330dup, NG_033052.2:g.86776_86779del, NG_033052.2:g.86777_86779del, NG_033052.2:g.86779del, NG_033052.2:g.86779dup, NG_012076.2:g.7945_7948del, NG_012076.2:g.7946_7948del, NG_012076.2:g.7948del, NG_012076.2:g.7948dup

Select item 14885115569.

rs1488511556 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:20777568 (GRCh38)
22:21131856 (GRCh37)
Canonical SPDI:: NC_000022.11:20777567:G:A
Gene:: SERPIND1 (Varview), PI4KA (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000022.11:g.20777568G>A, NC_000022.10:g.21131856G>A, NG_033052.2:g.86245C>T, NG_012076.2:g.8474G>A

Select item 148839521410.

rs1488395214 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 22:20784068 (GRCh38)
22:21138357 (GRCh37)
Canonical SPDI:: NC_000022.11:20784068:GGGG:GGGGG
Gene:: SERPIND1 (Varview), PI4KA (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,genic_upstream_transcript_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: GGGGG=0./0 (ALFA)
HGVS:: NC_000022.11:g.20784072dup, NC_000022.10:g.21138360dup, NG_033052.2:g.79744dup, NG_012076.2:g.14978dup, NM_000185.4:c.990dup, NM_000185.3:c.990dup, NP_000176.2:p.Asn331fs

Select item 148833687711.

rs1488336877 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:20775196 (GRCh38)
22:21129484 (GRCh37)
Canonical SPDI:: NC_000022.11:20775195:A:G
Gene:: SERPIND1 (Varview), PI4KA (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000035/1 (TOMMO)
HGVS:: NC_000022.11:g.20775196A>G, NC_000022.10:g.21129484A>G, NG_033052.2:g.88617T>C, NG_012076.2:g.6102A>G

Select item 148828905312.

rs1488289053 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:20777802 (GRCh38)
22:21132090 (GRCh37)
Canonical SPDI:: NC_000022.11:20777801:G:A
Gene:: SERPIND1 (Varview), PI4KA (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.20777802G>A, NC_000022.10:g.21132090G>A, NG_033052.2:g.86011C>T, NG_012076.2:g.8708G>A, NG_075121.1:g.102G>A

Select item 148817134113.

rs1488171341 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:20776685 (GRCh38)
22:21130973 (GRCh37)
Canonical SPDI:: NC_000022.11:20776684:C:T
Gene:: SERPIND1 (Varview), PI4KA (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.20776685C>T, NC_000022.10:g.21130973C>T, NG_033052.2:g.87128G>A, NG_012076.2:g.7591C>T

Select item 148815704014.

rs1488157040 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:20778870 (GRCh38)
22:21133158 (GRCh37)
Canonical SPDI:: NC_000022.11:20778869:C:T
Gene:: SERPIND1 (Varview), PI4KA (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000036/5 (GnomAD)
T=0.000038/10 (TOPMED)
HGVS:: NC_000022.11:g.20778870C>T, NC_000022.10:g.21133158C>T, NG_033052.2:g.84943G>A, NG_012076.2:g.9776C>T

Select item 148807737515.

rs1488077375 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 22:20779299 (GRCh38)
22:21133587 (GRCh37)
Canonical SPDI:: NC_000022.11:20779298:T:G
Gene:: SERPIND1 (Varview), PI4KA (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000022.11:g.20779299T>G, NC_000022.10:g.21133587T>G, NG_033052.2:g.84514A>C, NG_012076.2:g.10205T>G, NM_000185.4:c.-14T>G, NM_000185.3:c.-14T>G

Select item 148806821816.

rs1488068218 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:20774626 (GRCh38)
22:21128914 (GRCh37)
Canonical SPDI:: NC_000022.11:20774625:T:C
Gene:: SERPIND1 (Varview), PI4KA (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000029/4 (GnomAD)
HGVS:: NC_000022.11:g.20774626T>C, NC_000022.10:g.21128914T>C, NG_033052.2:g.89187A>G, NG_012076.2:g.5532T>C

Select item 148795498517.

rs1487954985 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 22:20782082 (GRCh38)
22:21136370 (GRCh37)
Canonical SPDI:: NC_000022.11:20782081:G:A,NC_000022.11:20782081:G:C
Gene:: SERPIND1 (Varview), PI4KA (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.20782082G>A, NC_000022.11:g.20782082G>C, NC_000022.10:g.21136370G>A, NC_000022.10:g.21136370G>C, NG_033052.2:g.81731C>T, NG_033052.2:g.81731C>G, NG_012076.2:g.12988G>A, NG_012076.2:g.12988G>C

Select item 148775941518.

rs1487759415 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 22:20780773 (GRCh38)
22:21135062 (GRCh37)
Canonical SPDI:: NC_000022.11:20780773:T:TT
Gene:: SERPIND1 (Varview), PI4KA (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
T=0.00008/3 (GnomAD)
HGVS:: NC_000022.11:g.20780774dup, NC_000022.10:g.21135062dup, NG_033052.2:g.83039dup, NG_012076.2:g.11680dup

Select item 148774248219.

rs1487742482 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:20785930 (GRCh38)
22:21140218 (GRCh37)
Canonical SPDI:: NC_000022.11:20785929:T:C
Gene:: SERPIND1 (Varview), PI4KA (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.20785930T>C, NC_000022.10:g.21140218T>C, NG_033052.2:g.77883A>G, NG_012076.2:g.16836T>C

Select item 148741662620.

rs1487416626 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 22:20785548 (GRCh38)
22:21139836 (GRCh37)
Canonical SPDI:: NC_000022.11:20785547:G:A,NC_000022.11:20785547:G:C
Gene:: SERPIND1 (Varview), PI4KA (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.20785548G>A, NC_000022.11:g.20785548G>C, NC_000022.10:g.21139836G>A, NC_000022.10:g.21139836G>C, NG_033052.2:g.78265C>T, NG_033052.2:g.78265C>G, NG_012076.2:g.16454G>A, NG_012076.2:g.16454G>C