SNP Links for Gene (Select 5213) - SNP

Select item 14913058831.

rs1491305883 has merged into rs562841214 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAA>-,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA [Show Flanks]
Chromosome:: 12:48125632 (GRCh38)
12:48519415 (GRCh37)
Canonical SPDI:: NC_000012.12:48125621:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000012.12:48125621:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:48125621:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:48125621:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:48125621:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:48125621:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000012.12:48125621:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000012.12:48125621:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000012.12:48125621:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000012.12:48125621:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:48125621:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
Gene:: PFKM (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
A=0.4107/2057 (1000Genomes)
-=0.425/17 (GENOME_DK)
HGVS:: NC_000012.12:g.48125632_48125640del, NC_000012.12:g.48125634_48125640del, NC_000012.12:g.48125636_48125640del, NC_000012.12:g.48125637_48125640del, NC_000012.12:g.48125638_48125640del, NC_000012.12:g.48125639_48125640del, NC_000012.12:g.48125640del, NC_000012.12:g.48125640dup, NC_000012.12:g.48125639_48125640dup, NC_000012.12:g.48125638_48125640dup, NC_000012.12:g.48125637_48125640dup, NC_000012.11:g.48519415_48519423del, NC_000012.11:g.48519417_48519423del, NC_000012.11:g.48519419_48519423del, NC_000012.11:g.48519420_48519423del, NC_000012.11:g.48519421_48519423del, NC_000012.11:g.48519422_48519423del, NC_000012.11:g.48519423del, NC_000012.11:g.48519423dup, NC_000012.11:g.48519422_48519423dup, NC_000012.11:g.48519421_48519423dup, NC_000012.11:g.48519420_48519423dup, NG_016199.2:g.25380_25388del, NG_016199.2:g.25382_25388del, NG_016199.2:g.25384_25388del, NG_016199.2:g.25385_25388del, NG_016199.2:g.25386_25388del, NG_016199.2:g.25387_25388del, NG_016199.2:g.25388del, NG_016199.2:g.25388dup, NG_016199.2:g.25387_25388dup, NG_016199.2:g.25386_25388dup, NG_016199.2:g.25385_25388dup

Select item 14912701522.

rs1491270152 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTT [Show Flanks]
Chromosome:: 12:48129211 (GRCh38)
12:48522995 (GRCh37)
Canonical SPDI:: NC_000012.12:48129211:TT:TTCTT
Gene:: PFKM (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTCTT=0./0 (ALFA)
TTC=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.48129213_48129214insCTT, NC_000012.11:g.48522996_48522997insCTT, NG_016199.2:g.28961_28962insCTT

Select item 14911858493.

rs1491185849 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 12:48125622 (GRCh38)
12:48519406 (GRCh37)
Canonical SPDI:: NC_000012.12:48125622::G
Gene:: PFKM (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.00003/1 (GnomAD)
HGVS:: NC_000012.12:g.48125622_48125623insG, NC_000012.11:g.48519405_48519406insG, NG_016199.2:g.25370_25371insG

Select item 14909812544.

rs1490981254 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 12:48110537 (GRCh38)
12:48504320 (GRCh37)
Canonical SPDI:: NC_000012.12:48110536:AT:
Gene:: PFKM (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000093/13 (GnomAD)
-=0.000204/54 (TOPMED)
HGVS:: NC_000012.12:g.48110537_48110538del, NC_000012.11:g.48504320_48504321del, NG_016199.2:g.10285_10286del

Select item 14907964875.

rs1490796487 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 12:48141572 (GRCh38)
12:48535355 (GRCh37)
Canonical SPDI:: NC_000012.12:48141571:C:A,NC_000012.12:48141571:C:T
Gene:: PFKM (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.48141572C>A, NC_000012.12:g.48141572C>T, NC_000012.11:g.48535355C>A, NC_000012.11:g.48535355C>T, NG_016199.2:g.41320C>A, NG_016199.2:g.41320C>T

Select item 14907169086.

rs1490716908 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:48124910 (GRCh38)
12:48518693 (GRCh37)
Canonical SPDI:: NC_000012.12:48124909:T:C
Gene:: PFKM (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_000012.12:g.48124910T>C, NC_000012.11:g.48518693T>C, NG_016199.2:g.24658T>C

Select item 14906798717.

rs1490679871 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 12:48107963 (GRCh38)
12:48501746 (GRCh37)
Canonical SPDI:: NC_000012.12:48107962:G:A,NC_000012.12:48107962:G:T
Gene:: PFKM (Varview), SENP1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00007/1 (ALFA)
HGVS:: NC_000012.12:g.48107963G>A, NC_000012.12:g.48107963G>T, NC_000012.11:g.48501746G>A, NC_000012.11:g.48501746G>T, NG_016199.2:g.7711G>A, NG_016199.2:g.7711G>T

Select item 14906180678.

rs1490618067 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 12:48132107 (GRCh38)
12:48525890 (GRCh37)
Canonical SPDI:: NC_000012.12:48132106:T:C,NC_000012.12:48132106:T:G
Gene:: PFKM (Varview), MIR6505 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000029/4 (GnomAD)
C=0.000283/5 (TOMMO)
C=0.000342/1 (KOREAN)
HGVS:: NC_000012.12:g.48132107T>C, NC_000012.12:g.48132107T>G, NC_000012.11:g.48525890T>C, NC_000012.11:g.48525890T>G, NG_016199.2:g.31855T>C, NG_016199.2:g.31855T>G

Select item 14905944369.

rs1490594436 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:48116301 (GRCh38)
12:48510084 (GRCh37)
Canonical SPDI:: NC_000012.12:48116300:C:T
Gene:: PFKM (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)
T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.48116301C>T, NC_000012.11:g.48510084C>T, NG_016199.2:g.16049C>T

Select item 149047802210.

rs1490478022 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:48108829 (GRCh38)
12:48502612 (GRCh37)
Canonical SPDI:: NC_000012.12:48108828:A:G
Gene:: PFKM (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000019/5 (TOPMED)
HGVS:: NC_000012.12:g.48108829A>G, NC_000012.11:g.48502612A>G, NG_016199.2:g.8577A>G

Select item 149025630411.

rs1490256304 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:48141321 (GRCh38)
12:48535104 (GRCh37)
Canonical SPDI:: NC_000012.12:48141320:C:A
Gene:: PFKM (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.48141321C>A, NC_000012.11:g.48535104C>A, NG_016199.2:g.41069C>A, NM_000289.6:c.1352C>A, NM_000289.5:c.1352C>A, NR_148957.2:n.1810C>A, NR_148957.1:n.1944C>A, NM_001166686.2:c.1565C>A, NM_001166686.1:c.1565C>A, NM_001354743.2:c.1352C>A, NM_001354743.1:c.1352C>A, NR_148954.2:n.1655C>A, NR_148954.1:n.1789C>A, NM_001354745.2:c.1265C>A, NM_001354745.1:c.1265C>A, NR_148956.2:n.1581C>A, NR_148956.1:n.1715C>A, NR_148958.2:n.1558C>A, NR_148958.1:n.1692C>A, NM_001354741.2:c.1376C>A, NM_001354741.1:c.1376C>A, NR_148959.2:n.1484C>A, NR_148959.1:n.1618C>A, NM_001166688.2:c.1352C>A, NM_001166688.1:c.1352C>A, NM_001354744.2:c.1352C>A, NM_001354744.1:c.1352C>A, NM_001354742.2:c.1352C>A, NM_001354742.1:c.1352C>A, NM_001166687.2:c.1352C>A, NM_001166687.1:c.1352C>A, NM_001354747.2:c.1202C>A, NM_001354747.1:c.1202C>A, NM_001354748.2:c.1202C>A, NM_001354748.1:c.1202C>A, NM_001363619.2:c.1259C>A, NM_001363619.1:c.1259C>A, NM_001354746.2:c.1226C>A, NM_001354746.1:c.1226C>A, NR_148955.1:n.2425C>A, NM_001354736.1:c.1661C>A, NM_001354735.1:c.1661C>A, NM_001354737.1:c.1565C>A, NM_001354739.1:c.1565C>A, NM_001354738.1:c.1565C>A, NM_001354740.1:c.1496C>A, XM_005268976.4:c.1661C>A, XM_005268976.3:c.1661C>A, XM_005268976.2:c.1661C>A, XM_005268976.1:c.1661C>A, XM_011538487.2:c.1778C>A, XM_011538487.1:c.1568C>A, XM_005268974.2:c.1661C>A, XM_005268974.1:c.1661C>A, XM_024449020.2:c.1574C>A, XM_024449020.1:c.1574C>A, XM_017019469.2:c.1472C>A, XM_017019469.1:c.1472C>A, XM_024449021.2:c.1451C>A, XM_024449021.1:c.1451C>A, XM_024449022.2:c.1352C>A, XM_024449022.1:c.1352C>A, XM_047428999.1:c.1871C>A, XM_047429000.1:c.1775C>A, XM_047429001.1:c.1670C>A, XM_047429002.1:c.1481C>A, XM_047429003.1:c.1403C>A, XM_047429004.1:c.1358C>A, NP_000280.1:p.Ala451Asp, NP_001160158.1:p.Ala522Asp, NP_001341672.1:p.Ala451Asp, NP_001341674.1:p.Ala422Asp, NP_001341670.1:p.Ala459Asp, NP_001160160.1:p.Ala451Asp, NP_001341673.1:p.Ala451Asp, NP_001341671.1:p.Ala451Asp, NP_001160159.1:p.Ala451Asp, NP_001341676.1:p.Ala401Asp, NP_001341677.1:p.Ala401Asp, NP_001350548.1:p.Ala420Asp, NP_001341675.1:p.Ala409Asp, NP_001341665.1:p.Ala554Asp, NP_001341664.1:p.Ala554Asp, NP_001341666.1:p.Ala522Asp, NP_001341668.1:p.Ala522Asp, NP_001341667.1:p.Ala522Asp, NP_001341669.1:p.Ala499Asp, XP_005269033.1:p.Ala554Asp, XP_011536789.2:p.Ala593Asp, XP_005269031.1:p.Ala554Asp, XP_024304788.1:p.Ala525Asp, XP_016874958.1:p.Ala491Asp, XP_024304789.1:p.Ala484Asp, XP_024304790.1:p.Ala451Asp, XP_047284955.1:p.Ala624Asp, XP_047284956.1:p.Ala592Asp, XP_047284957.1:p.Ala557Asp, XP_047284958.1:p.Ala494Asp, XP_047284959.1:p.Ala468Asp, XP_047284960.1:p.Ala453Asp

Select item 149022505412.

rs1490225054 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 12:48125337 (GRCh38)
12:48519120 (GRCh37)
Canonical SPDI:: NC_000012.12:48125336:A:T
Gene:: PFKM (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,non_coding_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_000012.12:g.48125337A>T, NC_000012.11:g.48519120A>T, NG_016199.2:g.25085A>T, NM_001354745.2:c.-228A>T, NM_001354745.1:c.-228A>T, NR_148955.1:n.681A>T

Select item 149022459813.

rs1490224598 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:48106873 (GRCh38)
12:48500656 (GRCh37)
Canonical SPDI:: NC_000012.12:48106872:A:G
Gene:: PFKM (Varview), SENP1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000042/11 (TOPMED)
G=0.000057/8 (GnomAD)
HGVS:: NC_000012.12:g.48106873A>G, NC_000012.11:g.48500656A>G, NG_016199.2:g.6621A>G

Select item 148991964214.

rs1489919642 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 12:48105748 (GRCh38)
12:48499531 (GRCh37)
Canonical SPDI:: NC_000012.12:48105747:G:A,NC_000012.12:48105747:G:T
Gene:: PFKM (Varview), SENP1 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000012.12:g.48105748G>A, NC_000012.12:g.48105748G>T, NC_000012.11:g.48499531G>A, NC_000012.11:g.48499531G>T, NG_016199.2:g.5496G>A, NG_016199.2:g.5496G>T, NM_001354743.2:c.-71G>A, NM_001354743.2:c.-71G>T, NM_001354743.1:c.-71G>A, NM_001354743.1:c.-71G>T, XM_006719361.4:c.-295C>T, XM_006719361.4:c.-295C>A, XM_006719361.3:c.-295C>T, XM_006719361.3:c.-295C>A, XM_006719361.2:c.-295C>T, XM_006719361.2:c.-295C>A, XM_006719361.1:c.-295C>T, XM_006719361.1:c.-295C>A, XM_011538244.4:c.-295C>T, XM_011538244.4:c.-295C>A, XM_011538244.3:c.-295C>T, XM_011538244.3:c.-295C>A, XM_011538244.2:c.-295C>T, XM_011538244.2:c.-295C>A, XM_011538244.1:c.-295C>T, XM_011538244.1:c.-295C>A, XM_011538245.4:c.-295C>T, XM_011538245.4:c.-295C>A, XM_011538245.3:c.-295C>T, XM_011538245.3:c.-295C>A, XM_011538245.2:c.-295C>T, XM_011538245.2:c.-295C>A, XM_011538245.1:c.-295C>T, XM_011538245.1:c.-295C>A, XM_017019229.3:c.-295C>T, XM_017019229.3:c.-295C>A, XM_017019229.2:c.-295C>T, XM_017019229.2:c.-295C>A, XM_017019229.1:c.-295C>T, XM_017019229.1:c.-295C>A, XM_017019230.3:c.-295C>T, XM_017019230.3:c.-295C>A, XM_017019230.1:c.-295C>T, XM_017019230.1:c.-295C>A, XM_017019233.3:c.-425C>T, XM_017019233.3:c.-425C>A, XM_017019233.2:c.-425C>T, XM_017019233.2:c.-425C>A, XM_017019233.1:c.-425C>T, XM_017019233.1:c.-425C>A, XM_017019231.3:c.-336C>T, XM_017019231.3:c.-336C>A, XM_017019231.1:c.-336C>T, XM_017019231.1:c.-336C>A, XM_017019234.3:c.-370C>T, XM_017019234.3:c.-370C>A, XM_017019234.1:c.-370C>T, XM_017019234.1:c.-370C>A, NR_051992.2:n.108C>T, NR_051992.2:n.108C>A, NR_051992.1:n.245C>T, NR_051992.1:n.245C>A, NM_001267595.2:c.-336C>T, NM_001267595.2:c.-336C>A, NM_001267595.1:c.-336C>T, NM_001267595.1:c.-336C>A, NM_014554.2:c.-336C>T, NM_014554.2:c.-336C>A, XM_011538487.2:c.139G>A, XM_011538487.2:c.139G>T, NR_051991.1:n.245C>T, NR_051991.1:n.245C>A, XM_047428752.1:c.-295C>T, XM_047428752.1:c.-295C>A, XM_047428999.1:c.139G>A, XM_047428999.1:c.139G>T, XM_047429000.1:c.139G>A, XM_047429000.1:c.139G>T, XP_011536789.2:p.Val47Ile, XP_011536789.2:p.Val47Leu, XP_047284955.1:p.Val47Ile, XP_047284955.1:p.Val47Leu, XP_047284956.1:p.Val47Ile, XP_047284956.1:p.Val47Leu

Select item 148988186415.

rs1489881864 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 12:48126612 (GRCh38)
12:48520395 (GRCh37)
Canonical SPDI:: NC_000012.12:48126611:T:C,NC_000012.12:48126611:T:G
Gene:: PFKM (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
G=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.48126612T>C, NC_000012.12:g.48126612T>G, NC_000012.11:g.48520395T>C, NC_000012.11:g.48520395T>G, NG_016199.2:g.26360T>C, NG_016199.2:g.26360T>G

Select item 148983237116.

rs1489832371 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:48109339 (GRCh38)
12:48503122 (GRCh37)
Canonical SPDI:: NC_000012.12:48109338:C:A
Gene:: PFKM (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000012.12:g.48109339C>A, NC_000012.11:g.48503122C>A, NG_016199.2:g.9087C>A

Select item 148981350717.

rs1489813507 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:48145803 (GRCh38)
12:48539586 (GRCh37)
Canonical SPDI:: NC_000012.12:48145802:T:C
Gene:: PFKM (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.48145803T>C, NC_000012.11:g.48539586T>C, NG_016199.2:g.45551T>C, NM_000289.6:c.*95T>C, NM_000289.5:c.*95T>C, NR_148957.2:n.2896T>C, NR_148957.1:n.3030T>C, NM_001166686.2:c.*95T>C, NM_001166686.1:c.*95T>C, NM_001354743.2:c.*95T>C, NM_001354743.1:c.*95T>C, NR_148954.2:n.2741T>C, NR_148954.1:n.2875T>C, NM_001354745.2:c.*95T>C, NM_001354745.1:c.*95T>C, NR_148956.2:n.2667T>C, NR_148956.1:n.2801T>C, NR_148958.2:n.2644T>C, NR_148958.1:n.2778T>C, NM_001354741.2:c.*95T>C, NM_001354741.1:c.*95T>C, NR_148959.2:n.2570T>C, NR_148959.1:n.2704T>C, NM_001166688.2:c.*95T>C, NM_001166688.1:c.*95T>C, NM_001354744.2:c.*95T>C, NM_001354744.1:c.*95T>C, NM_001354742.2:c.*95T>C, NM_001354742.1:c.*95T>C, NM_001166687.2:c.*95T>C, NM_001166687.1:c.*95T>C, NM_001354747.2:c.*95T>C, NM_001354747.1:c.*95T>C, NM_001354748.2:c.*95T>C, NM_001354748.1:c.*95T>C, NM_001363619.2:c.*95T>C, NM_001363619.1:c.*95T>C, NM_001354746.2:c.*95T>C, NM_001354746.1:c.*95T>C, NR_148955.1:n.3511T>C, NM_001354736.1:c.*95T>C, NM_001354735.1:c.*95T>C, NM_001354737.1:c.*95T>C, NM_001354739.1:c.*95T>C, NM_001354738.1:c.*95T>C, NM_001354740.1:c.*95T>C, XM_005268976.4:c.*95T>C, XM_005268976.3:c.*95T>C, XM_005268976.2:c.*95T>C, XM_005268976.1:c.*95T>C, XM_011538487.2:c.*95T>C, XM_011538487.1:c.*95T>C, XM_005268974.2:c.*95T>C, XM_005268974.1:c.*95T>C, XM_024449020.2:c.*95T>C, XM_024449020.1:c.*95T>C, XM_017019469.2:c.*95T>C, XM_017019469.1:c.*95T>C, XM_024449021.2:c.*95T>C, XM_024449021.1:c.*95T>C, XM_024449022.2:c.*95T>C, XM_024449022.1:c.*95T>C, XM_047428999.1:c.*95T>C, XM_047429000.1:c.*95T>C, XM_047429001.1:c.*95T>C, XM_047429002.1:c.*95T>C, XM_047429003.1:c.*95T>C, XM_047429004.1:c.*95T>C

Select item 148975907518.

rs1489759075 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:48109502 (GRCh38)
12:48503285 (GRCh37)
Canonical SPDI:: NC_000012.12:48109501:T:G
Gene:: PFKM (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_000012.12:g.48109502T>G, NC_000012.11:g.48503285T>G, NG_016199.2:g.9250T>G

Select item 148973381619.

rs1489733816 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 12:48133318 (GRCh38)
12:48527101 (GRCh37)
Canonical SPDI:: NC_000012.12:48133317:A:C
Gene:: PFKM (Varview), MIR6505 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000028/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.48133318A>C, NC_000012.11:g.48527101A>C, NG_016199.2:g.33066A>C, NM_000289.6:c.431A>C, NM_000289.5:c.431A>C, NR_148957.2:n.482A>C, NR_148957.1:n.616A>C, NM_001166686.2:c.644A>C, NM_001166686.1:c.644A>C, NM_001354743.2:c.431A>C, NM_001354743.1:c.431A>C, NR_148954.2:n.482A>C, NR_148954.1:n.616A>C, NM_001354745.2:c.344A>C, NM_001354745.1:c.344A>C, NR_148956.2:n.408A>C, NR_148956.1:n.542A>C, NR_148958.2:n.482A>C, NR_148958.1:n.616A>C, NM_001354741.2:c.455A>C, NM_001354741.1:c.455A>C, NR_148959.2:n.408A>C, NR_148959.1:n.542A>C, NM_001166688.2:c.431A>C, NM_001166688.1:c.431A>C, NM_001354744.2:c.431A>C, NM_001354744.1:c.431A>C, NM_001354742.2:c.431A>C, NM_001354742.1:c.431A>C, NM_001166687.2:c.431A>C, NM_001166687.1:c.431A>C, NM_001354747.2:c.281A>C, NM_001354747.1:c.281A>C, NM_001354748.2:c.281A>C, NM_001354748.1:c.281A>C, NM_001363619.2:c.431A>C, NM_001363619.1:c.431A>C, NM_001354746.2:c.431A>C, NM_001354746.1:c.431A>C, NR_148955.1:n.1252A>C, NM_001354736.1:c.740A>C, NM_001354735.1:c.740A>C, NM_001354737.1:c.644A>C, NM_001354739.1:c.644A>C, NM_001354738.1:c.644A>C, NM_001354740.1:c.575A>C, XM_005268976.4:c.740A>C, XM_005268976.3:c.740A>C, XM_005268976.2:c.740A>C, XM_005268976.1:c.740A>C, XM_011538487.2:c.950A>C, XM_011538487.1:c.740A>C, XM_005268974.2:c.740A>C, XM_005268974.1:c.740A>C, XM_024449020.2:c.653A>C, XM_024449020.1:c.653A>C, XM_017019469.2:c.644A>C, XM_017019469.1:c.644A>C, XM_024449021.2:c.530A>C, XM_024449021.1:c.530A>C, XM_024449022.2:c.431A>C, XM_024449022.1:c.431A>C, XM_047428999.1:c.950A>C, XM_047429000.1:c.854A>C, XM_047429001.1:c.749A>C, XM_047429002.1:c.653A>C, XM_047429003.1:c.575A>C, XM_047429004.1:c.530A>C, NP_000280.1:p.Lys144Thr, NP_001160158.1:p.Lys215Thr, NP_001341672.1:p.Lys144Thr, NP_001341674.1:p.Lys115Thr, NP_001341670.1:p.Lys152Thr, NP_001160160.1:p.Lys144Thr, NP_001341673.1:p.Lys144Thr, NP_001341671.1:p.Lys144Thr, NP_001160159.1:p.Lys144Thr, NP_001341676.1:p.Lys94Thr, NP_001341677.1:p.Lys94Thr, NP_001350548.1:p.Lys144Thr, NP_001341675.1:p.Lys144Thr, NP_001341665.1:p.Lys247Thr, NP_001341664.1:p.Lys247Thr, NP_001341666.1:p.Lys215Thr, NP_001341668.1:p.Lys215Thr, NP_001341667.1:p.Lys215Thr, NP_001341669.1:p.Lys192Thr, XP_005269033.1:p.Lys247Thr, XP_011536789.2:p.Lys317Thr, XP_005269031.1:p.Lys247Thr, XP_024304788.1:p.Lys218Thr, XP_016874958.1:p.Lys215Thr, XP_024304789.1:p.Lys177Thr, XP_024304790.1:p.Lys144Thr, XP_047284955.1:p.Lys317Thr, XP_047284956.1:p.Lys285Thr, XP_047284957.1:p.Lys250Thr, XP_047284958.1:p.Lys218Thr, XP_047284959.1:p.Lys192Thr, XP_047284960.1:p.Lys177Thr

Select item 148956869820.

rs1489568698 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:48145066 (GRCh38)
12:48538849 (GRCh37)
Canonical SPDI:: NC_000012.12:48145065:C:A
Gene:: PFKM (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.48145066C>A, NC_000012.11:g.48538849C>A, NG_016199.2:g.44814C>A, NM_000289.6:c.2028C>A, NM_000289.5:c.2028C>A, NR_148957.2:n.2486C>A, NR_148957.1:n.2620C>A, NM_001166686.2:c.2241C>A, NM_001166686.1:c.2241C>A, NM_001354743.2:c.2028C>A, NM_001354743.1:c.2028C>A, NR_148954.2:n.2331C>A, NR_148954.1:n.2465C>A, NM_001354745.2:c.1941C>A, NM_001354745.1:c.1941C>A, NR_148956.2:n.2257C>A, NR_148956.1:n.2391C>A, NR_148958.2:n.2234C>A, NR_148958.1:n.2368C>A, NM_001354741.2:c.2052C>A, NM_001354741.1:c.2052C>A, NR_148959.2:n.2160C>A, NR_148959.1:n.2294C>A, NM_001166688.2:c.2028C>A, NM_001166688.1:c.2028C>A, NM_001354744.2:c.2028C>A, NM_001354744.1:c.2028C>A, NM_001354742.2:c.2028C>A, NM_001354742.1:c.2028C>A, NM_001166687.2:c.2028C>A, NM_001166687.1:c.2028C>A, NM_001354747.2:c.1878C>A, NM_001354747.1:c.1878C>A, NM_001354748.2:c.1878C>A, NM_001354748.1:c.1878C>A, NM_001363619.2:c.1935C>A, NM_001363619.1:c.1935C>A, NM_001354746.2:c.1902C>A, NM_001354746.1:c.1902C>A, NR_148955.1:n.3101C>A, NM_001354736.1:c.2337C>A, NM_001354735.1:c.2337C>A, NM_001354737.1:c.2241C>A, NM_001354739.1:c.2241C>A, NM_001354738.1:c.2241C>A, NM_001354740.1:c.2172C>A, XM_005268976.4:c.2337C>A, XM_005268976.3:c.2337C>A, XM_005268976.2:c.2337C>A, XM_005268976.1:c.2337C>A, XM_011538487.2:c.2454C>A, XM_011538487.1:c.2244C>A, XM_005268974.2:c.2337C>A, XM_005268974.1:c.2337C>A, XM_024449020.2:c.2250C>A, XM_024449020.1:c.2250C>A, XM_017019469.2:c.2148C>A, XM_017019469.1:c.2148C>A, XM_024449021.2:c.2127C>A, XM_024449021.1:c.2127C>A, XM_024449022.2:c.2028C>A, XM_024449022.1:c.2028C>A, XM_047428999.1:c.2547C>A, XM_047429000.1:c.2451C>A, XM_047429001.1:c.2346C>A, XM_047429002.1:c.2157C>A, XM_047429003.1:c.2079C>A, XM_047429004.1:c.2034C>A

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