SNP Links for Gene (Select 5211) - SNP

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Select item 14909922031.

rs1490992203 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 21:44323913 (GRCh38)
21:45743796 (GRCh37)
Canonical SPDI:: NC_000021.9:44323912:A:C,NC_000021.9:44323912:A:G
Gene:: PFKL (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
C=0.000546/1 (Korea1K)
HGVS:: NC_000021.9:g.44323913A>C, NC_000021.9:g.44323913A>G, NC_000021.8:g.45743796A>C, NC_000021.8:g.45743796A>G, NG_034033.1:g.28880A>C, NG_034033.1:g.28880A>G, NM_002626.6:c.1645A>C, NM_002626.6:c.1645A>G, NM_002626.5:c.1645A>C, NM_002626.5:c.1645A>G, NM_002626.4:c.1645A>C, NM_002626.4:c.1645A>G, NM_001002021.3:c.1795A>C, NM_001002021.3:c.1795A>G, NM_001002021.2:c.1795A>C, NM_001002021.2:c.1795A>G, NM_001002021.1:c.1786A>C, NM_001002021.1:c.1786A>G, XM_005261137.5:c.1558A>C, XM_005261137.5:c.1558A>G, XM_005261137.4:c.1558A>C, XM_005261137.4:c.1558A>G, XM_005261137.3:c.1558A>C, XM_005261137.3:c.1558A>G, XM_005261137.2:c.1558A>C, XM_005261137.2:c.1558A>G, XM_005261137.1:c.1558A>C, XM_005261137.1:c.1558A>G, XM_005261135.4:c.1714A>C, XM_005261135.4:c.1714A>G, XM_005261135.3:c.1714A>C, XM_005261135.3:c.1714A>G, XM_005261135.2:c.1714A>C, XM_005261135.2:c.1714A>G, XM_005261135.1:c.1714A>C, XM_005261135.1:c.1714A>G, XM_011529603.3:c.979A>C, XM_011529603.3:c.979A>G, XM_011529603.2:c.979A>C, XM_011529603.2:c.979A>G, XM_011529603.1:c.979A>C, XM_011529603.1:c.979A>G, XM_024452085.2:c.1795A>C, XM_024452085.2:c.1795A>G, XM_024452085.1:c.1795A>C, XM_024452085.1:c.1795A>G, XM_006724011.2:c.1864A>C, XM_006724011.2:c.1864A>G, XM_006724011.1:c.1864A>C, XM_006724011.1:c.1864A>G, XM_017028369.2:c.1576A>C, XM_017028369.2:c.1576A>G, XM_017028369.1:c.1576A>C, XM_017028369.1:c.1576A>G, XM_047440822.1:c.1864A>C, XM_047440822.1:c.1864A>G, NR_024108.1:n.2187A>C, NR_024108.1:n.2187A>G, XM_047440824.1:c.1795A>C, XM_047440824.1:c.1795A>G, XM_047440825.1:c.1645A>C, XM_047440825.1:c.1645A>G, XM_047440823.1:c.1864A>C, XM_047440823.1:c.1864A>G, NP_002617.3:p.Met549Leu, NP_002617.3:p.Met549Val, NP_001002021.2:p.Met599Leu, NP_001002021.2:p.Met599Val, XP_005261194.1:p.Met520Leu, XP_005261194.1:p.Met520Val, XP_005261192.1:p.Met572Leu, XP_005261192.1:p.Met572Val, XP_011527905.1:p.Met327Leu, XP_011527905.1:p.Met327Val, XP_024307853.1:p.Met599Leu, XP_024307853.1:p.Met599Val, XP_006724074.1:p.Met622Leu, XP_006724074.1:p.Met622Val, XP_016883858.1:p.Met526Leu, XP_016883858.1:p.Met526Val, XP_047296778.1:p.Met622Leu, XP_047296778.1:p.Met622Val, XP_047296780.1:p.Met599Leu, XP_047296780.1:p.Met599Val, XP_047296781.1:p.Met549Leu, XP_047296781.1:p.Met549Val, XP_047296779.1:p.Met622Leu, XP_047296779.1:p.Met622Val

Select item 14909778952.

rs1490977895 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 21:44327437 (GRCh38)
21:45747320 (GRCh37)
Canonical SPDI:: NC_000021.9:44327436:A:T
Gene:: PFKL (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.44327437A>T, NC_000021.8:g.45747320A>T, NG_034033.1:g.32404A>T, NG_032952.1:g.16966T>A

Select item 14909400103.

rs1490940010 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 21:44322082 (GRCh38)
21:45741965 (GRCh37)
Canonical SPDI:: NC_000021.9:44322081:A:T
Gene:: PFKL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.44322082A>T, NC_000021.8:g.45741965A>T, NG_034033.1:g.27049A>T

Select item 14908546364.

rs1490854636 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:44299413 (GRCh38)
21:45719296 (GRCh37)
Canonical SPDI:: NC_000021.9:44299412:C:T
Gene:: PFKL (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000021.9:g.44299413C>T, NC_000021.8:g.45719296C>T, NG_034033.1:g.4380C>T, NG_009556.1:g.18534C>T

Select item 14905981865.

rs1490598186 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:44310933 (GRCh38)
21:45730816 (GRCh37)
Canonical SPDI:: NC_000021.9:44310932:C:T
Gene:: PFKL (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.44310933C>T, NC_000021.8:g.45730816C>T, NG_034033.1:g.15900C>T

Select item 14905762146.

rs1490576214 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:44321718 (GRCh38)
21:45741601 (GRCh37)
Canonical SPDI:: NC_000021.9:44321717:T:C
Gene:: PFKL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000021.9:g.44321718T>C, NC_000021.8:g.45741601T>C, NG_034033.1:g.26685T>C

Select item 14904309407.

rs1490430940 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 21:44304023 (GRCh38)
21:45723906 (GRCh37)
Canonical SPDI:: NC_000021.9:44304022:C:G
Gene:: PFKL (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000021.9:g.44304023C>G, NC_000021.8:g.45723906C>G, NG_034033.1:g.8990C>G

Select item 14903740858.

rs1490374085 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 21:44315130 (GRCh38)
21:45735013 (GRCh37)
Canonical SPDI:: NC_000021.9:44315129:G:C
Gene:: PFKL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000019/5 (TOPMED)
HGVS:: NC_000021.9:g.44315130G>C, NC_000021.8:g.45735013G>C, NG_034033.1:g.20097G>C

Select item 14902705779.

rs1490270577 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 21:44311400 (GRCh38)
21:45731283 (GRCh37)
Canonical SPDI:: NC_000021.9:44311399:A:G,NC_000021.9:44311399:A:T
Gene:: PFKL (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
G=0.000035/1 (TOMMO)
HGVS:: NC_000021.9:g.44311400A>G, NC_000021.9:g.44311400A>T, NC_000021.8:g.45731283A>G, NC_000021.8:g.45731283A>T, NG_034033.1:g.16367A>G, NG_034033.1:g.16367A>T

Select item 149025682010.

rs1490256820 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 21:44322459 (GRCh38)
21:45742342 (GRCh37)
Canonical SPDI:: NC_000021.9:44322458:T:A,NC_000021.9:44322458:T:C
Gene:: PFKL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000021.9:g.44322459T>A, NC_000021.9:g.44322459T>C, NC_000021.8:g.45742342T>A, NC_000021.8:g.45742342T>C, NG_034033.1:g.27426T>A, NG_034033.1:g.27426T>C

Select item 149025413211.

rs1490254132 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:44312801 (GRCh38)
21:45732684 (GRCh37)
Canonical SPDI:: NC_000021.9:44312800:G:A
Gene:: PFKL (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000035/1 (TOMMO)
A=0.000042/11 (TOPMED)
A=0.00005/7 (GnomAD)
HGVS:: NC_000021.9:g.44312801G>A, NC_000021.8:g.45732684G>A, NG_034033.1:g.17768G>A

Select item 149022311812.

rs1490223118 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 21:44314419 (GRCh38)
21:45734302 (GRCh37)
Canonical SPDI:: NC_000021.9:44314418:C:A,NC_000021.9:44314418:C:T
Gene:: PFKL (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000021.9:g.44314419C>A, NC_000021.9:g.44314419C>T, NC_000021.8:g.45734302C>A, NC_000021.8:g.45734302C>T, NG_034033.1:g.19386C>A, NG_034033.1:g.19386C>T

Select item 149011468713.

rs1490114687 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:44327381 (GRCh38)
21:45747264 (GRCh37)
Canonical SPDI:: NC_000021.9:44327380:C:T
Gene:: PFKL (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.44327381C>T, NC_000021.8:g.45747264C>T, NG_034033.1:g.32348C>T, NG_032952.1:g.17022G>A, NM_002626.5:c.*519C>T, NM_001002021.2:c.*519C>T

Select item 149008619614.

rs1490086196 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 21:44304734 (GRCh38)
21:45724617 (GRCh37)
Canonical SPDI:: NC_000021.9:44304733:G:T
Gene:: PFKL (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00008/1 (ALFA)
G=0.5/2 (SGDP_PRJ)
HGVS:: NC_000021.9:g.44304734G>T, NC_000021.8:g.45724617G>T, NG_034033.1:g.9701G>T

Select item 149001474615.

rs1490014746 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 21:44301142 (GRCh38)
21:45721026 (GRCh37)
Canonical SPDI:: NC_000021.9:44301142:CCC:CCCC
Gene:: PFKL (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: CCCC=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.44301145dup, NC_000021.8:g.45721028dup, NG_034033.1:g.6112dup

Select item 148995049716.

rs1489950497 [Homo sapiens]

Variant type:: INS
Alleles:: ->GG,GGGGGGGGGGGGGGGGGGGGGGGGG [Show Flanks]
Chromosome:: 21:44326627 (GRCh38)
21:45746511 (GRCh37)
Canonical SPDI:: NC_000021.9:44326627::GG,NC_000021.9:44326627::GGGGGGGGGGGGGGGGGGGGGGGGG
Gene:: PFKL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
GG=0.0003/2 (GnomAD)
HGVS:: NC_000021.9:g.44326627_44326628insGG, NC_000021.9:g.44326627_44326628insGGGGGGGGGGGGGGGGGGGGGGGGG, NC_000021.8:g.45746510_45746511insGG, NC_000021.8:g.45746510_45746511insGGGGGGGGGGGGGGGGGGGGGGGGG, NG_034033.1:g.31594_31595insGG, NG_034033.1:g.31594_31595insGGGGGGGGGGGGGGGGGGGGGGGGG

Select item 148986666317.

rs1489866663 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 21:44299537 (GRCh38)
21:45719420 (GRCh37)
Canonical SPDI:: NC_000021.9:44299536:G:A,NC_000021.9:44299536:G:C
Gene:: PFKL (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000036/5 (GnomAD)
HGVS:: NC_000021.9:g.44299537G>A, NC_000021.9:g.44299537G>C, NC_000021.8:g.45719420G>A, NC_000021.8:g.45719420G>C, NG_034033.1:g.4504G>A, NG_034033.1:g.4504G>C, NG_009556.1:g.18658G>A, NG_009556.1:g.18658G>C

Select item 148980734618.

rs1489807346 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 21:44327741 (GRCh38)
21:45747624 (GRCh37)
Canonical SPDI:: NC_000021.9:44327740:C:G
Gene:: PFKL (Varview)
Functional Consequence:: 500B_downstream_variant,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_000021.9:g.44327741C>G, NC_000021.8:g.45747624C>G, NG_034033.1:g.32708C>G, NG_032952.1:g.16662G>C

Select item 148979497619.

rs1489794976 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 21:44305352 (GRCh38)
21:45725235 (GRCh37)
Canonical SPDI:: NC_000021.9:44305351:G:C
Gene:: PFKL (Varview)
Functional Consequence:: intron_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000021.9:g.44305352G>C, NC_000021.8:g.45725235G>C, NG_034033.1:g.10319G>C, NM_001002021.3:c.34G>C, NM_001002021.2:c.34G>C, NM_001002021.1:c.25G>C, XM_024452085.2:c.34G>C, XM_024452085.1:c.34G>C, XM_006724011.2:c.34G>C, XM_006724011.1:c.34G>C, XM_047440822.1:c.34G>C, NR_024108.1:n.426G>C, XM_047440824.1:c.34G>C, XM_047440823.1:c.34G>C, NP_001002021.2:p.Glu12Gln, XP_024307853.1:p.Glu12Gln, XP_006724074.1:p.Glu12Gln, XP_047296778.1:p.Glu12Gln, XP_047296780.1:p.Glu12Gln, XP_047296779.1:p.Glu12Gln

Select item 148975081520.

rs1489750815 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:44306300 (GRCh38)
21:45726183 (GRCh37)
Canonical SPDI:: NC_000021.9:44306299:A:G
Gene:: PFKL (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000021.9:g.44306300A>G, NC_000021.8:g.45726183A>G, NG_034033.1:g.11267A>G

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