SNP Links for Gene (Select 5730) - SNP

Links from Gene

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Select item 14903224621.

rs1490322462 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:136980662 (GRCh38)
9:139875114 (GRCh37)
Canonical SPDI:: NC_000009.12:136980661:C:T
Gene:: PTGDS (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.136980662C>T, NC_000009.11:g.139875114C>T

Select item 14902627702.

rs1490262770 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 9:136981829 (GRCh38)
9:139876281 (GRCh37)
Canonical SPDI:: NC_000009.12:136981828:T:G
Gene:: PTGDS (Varview), LCNL1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_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_000009.12:g.136981829T>G, NC_000009.11:g.139876281T>G

Select item 14899832033.

rs1489983203 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:136976774 (GRCh38)
9:139871226 (GRCh37)
Canonical SPDI:: NC_000009.12:136976773:G:A
Gene:: PTGDS (Varview), LOC124902312 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.136976774G>A, NC_000009.11:g.139871226G>A, XR_007061868.1:n.1361G>A, XR_007061872.1:n.1259G>A, XR_007061870.1:n.727G>A, XR_007061871.1:n.724G>A, XR_007061869.1:n.485G>A

Select item 14899783384.

rs1489978338 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 9:136975922 (GRCh38)
9:139870374 (GRCh37)
Canonical SPDI:: NC_000009.12:136975921:C:A
Gene:: PTGDS (Varview), LOC124902312 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
HGVS:: NC_000009.12:g.136975922C>A, NC_000009.11:g.139870374C>A, XR_007061868.1:n.509C>A, XR_007061872.1:n.407C>A

Select item 14894982455.

rs1489498245 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 9:136978891 (GRCh38)
9:139873343 (GRCh37)
Canonical SPDI:: NC_000009.12:136978890:G:A,NC_000009.12:136978890:G:T
Gene:: PTGDS (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: G=0./0 (SGDP_PRJ)
A=0.000014/2 (GnomAD_exomes)
HGVS:: NC_000009.12:g.136978891G>A, NC_000009.12:g.136978891G>T, NC_000009.11:g.139873343G>A, NC_000009.11:g.139873343G>T

Select item 14894636996.

rs1489463699 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:136979762 (GRCh38)
9:139874214 (GRCh37)
Canonical SPDI:: NC_000009.12:136979761:G:A
Gene:: PTGDS (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000009.12:g.136979762G>A, NC_000009.11:g.139874214G>A

Select item 14887931637.

rs1488793163 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 9:136976866 (GRCh38)
9:139871318 (GRCh37)
Canonical SPDI:: NC_000009.12:136976865:C:A
Gene:: PTGDS (Varview), LOC124902312 (Varview)
Functional Consequence:: upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.136976866C>A, NC_000009.11:g.139871318C>A

Select item 14884049198.

rs1488404919 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 9:136978509 (GRCh38)
9:139872961 (GRCh37)
Canonical SPDI:: NC_000009.12:136978508:T:C,NC_000009.12:136978508:T:G
Gene:: PTGDS (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
G=0.04635/117 (KOREAN)
HGVS:: NC_000009.12:g.136978509T>C, NC_000009.12:g.136978509T>G, NC_000009.11:g.139872961T>C, NC_000009.11:g.139872961T>G

Select item 14882844549.

rs1488284454 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:136979360 (GRCh38)
9:139873812 (GRCh37)
Canonical SPDI:: NC_000009.12:136979359:C:T
Gene:: PTGDS (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.136979360C>T, NC_000009.11:g.139873812C>T

Select item 148825842010.

rs1488258420 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 9:136977734 (GRCh38)
9:139872186 (GRCh37)
Canonical SPDI:: NC_000009.12:136977733:CT:
Gene:: PTGDS (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: -=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.136977734_136977735del, NC_000009.11:g.139872186_139872187del

Select item 148784117411.

rs1487841174 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 9:136978604 (GRCh38)
9:139873056 (GRCh37)
Canonical SPDI:: NC_000009.12:136978603:G:A,NC_000009.12:136978603:G:C,NC_000009.12:136978603:G:T
Gene:: PTGDS (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.00028/5 (TOMMO)
C=0.00115/2 (Korea1K)
C=0.00198/5 (KOREAN)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000009.12:g.136978604G>A, NC_000009.12:g.136978604G>C, NC_000009.12:g.136978604G>T, NC_000009.11:g.139873056G>A, NC_000009.11:g.139873056G>C, NC_000009.11:g.139873056G>T

Select item 148762234012.

rs1487622340 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:136978430 (GRCh38)
9:139872882 (GRCh37)
Canonical SPDI:: NC_000009.12:136978429:T:C
Gene:: PTGDS (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000009.12:g.136978430T>C, NC_000009.11:g.139872882T>C

Select item 148753602813.

rs1487536028 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 9:136979447 (GRCh38)
9:139873899 (GRCh37)
Canonical SPDI:: NC_000009.12:136979446:C:A,NC_000009.12:136979446:C:T
Gene:: PTGDS (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0./0 (GnomAD)
T=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.136979447C>A, NC_000009.12:g.136979447C>T, NC_000009.11:g.139873899C>A, NC_000009.11:g.139873899C>T

Select item 148750588814.

rs1487505888 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:136978835 (GRCh38)
9:139873287 (GRCh37)
Canonical SPDI:: NC_000009.12:136978834:T:C
Gene:: PTGDS (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.00001/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.136978835T>C, NC_000009.11:g.139873287T>C

Select item 148726377415.

rs1487263774 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:136978031 (GRCh38)
9:139872483 (GRCh37)
Canonical SPDI:: NC_000009.12:136978030:C:T
Gene:: PTGDS (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.136978031C>T, NC_000009.11:g.139872483C>T

Select item 148660182116.

rs1486601821 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 9:136980790 (GRCh38)
9:139875242 (GRCh37)
Canonical SPDI:: NC_000009.12:136980789:A:C
Gene:: PTGDS (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.136980790A>C, NC_000009.11:g.139875242A>C

Select item 148628863117.

rs1486288631 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 9:136978146 (GRCh38)
9:139872598 (GRCh37)
Canonical SPDI:: NC_000009.12:136978145:G:A,NC_000009.12:136978145:G:C
Gene:: PTGDS (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.00004/1 (TOMMO)
HGVS:: NC_000009.12:g.136978146G>A, NC_000009.12:g.136978146G>C, NC_000009.11:g.139872598G>A, NC_000009.11:g.139872598G>C

Select item 148577622818.

rs1485776228 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:136976698 (GRCh38)
9:139871150 (GRCh37)
Canonical SPDI:: NC_000009.12:136976697:C:T
Gene:: PTGDS (Varview), LOC124902312 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.136976698C>T, NC_000009.11:g.139871150C>T, XR_007061868.1:n.1285C>T, XR_007061872.1:n.1183C>T, XR_007061870.1:n.651C>T, XR_007061871.1:n.648C>T, XR_007061869.1:n.409C>T

Select item 148570232019.

rs1485702320 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:136979619 (GRCh38)
9:139874071 (GRCh37)
Canonical SPDI:: NC_000009.12:136979618:C:T
Gene:: PTGDS (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000009.12:g.136979619C>T, NC_000009.11:g.139874071C>T

Select item 148414275520.

rs1484142755 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:136980276 (GRCh38)
9:139874728 (GRCh37)
Canonical SPDI:: NC_000009.12:136980275:C:T
Gene:: PTGDS (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.136980276C>T, NC_000009.11:g.139874728C>T, NM_000954.6:c.542C>T, NM_000954.5:c.542C>T, NP_000945.3:p.Pro181Leu

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