SNP Links for Gene (Select 55432) - SNP

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Select item 14913274821.

rs1491327482 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 1:207053904 (GRCh38)
1:207227249 (GRCh37)
Canonical SPDI:: NC_000001.11:207053903:AT:
Gene:: PFKFB2 (Varview), YOD1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,5_prime_UTR_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000076/2 (TOMMO)
-=0.000124/13 (GnomAD)
HGVS:: NC_000001.11:g.207053904_207053905del, NC_000001.10:g.207227249_207227250del, XM_024447655.2:c.-365_-364del, XM_047422549.1:c.-365_-364del

Select item 14911760472.

rs1491176047 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 1:207045512 (GRCh38)
1:207218857 (GRCh37)
Canonical SPDI:: NC_000001.11:207045505:ATATATAT:ATATAT
Gene:: PFKFB2 (Varview), YOD1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
HGVS:: NC_000001.11:g.207045506AT[3], NC_000001.10:g.207218851AT[3], NM_018566.4:c.*3507AT[3], NM_018566.3:c.*3507AT[3], NM_001276320.2:c.*3507AT[3], NM_001276320.1:c.*3507AT[3], XM_047424447.1:c.*3507AT[3]

Select item 14911099713.

rs1491109971 [Homo sapiens]

Variant type:: INS
Alleles:: ->AGCAGACT [Show Flanks]
Chromosome:: 1:207045506 (GRCh38)
1:207218852 (GRCh37)
Canonical SPDI:: NC_000001.11:207045506::AGCAGACT
Gene:: PFKFB2 (Varview), YOD1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
HGVS:: NC_000001.11:g.207045506_207045507insAGCAGACT, NC_000001.10:g.207218851_207218852insAGCAGACT, NM_018566.4:c.*3513_*3514insAGTCTGCT, NM_018566.3:c.*3513_*3514insAGTCTGCT, NM_001276320.2:c.*3513_*3514insAGTCTGCT, NM_001276320.1:c.*3513_*3514insAGTCTGCT, XM_047424447.1:c.*3513_*3514insAGTCTGCT

Select item 14909759354.

rs1490975935 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:207045387 (GRCh38)
1:207218732 (GRCh37)
Canonical SPDI:: NC_000001.11:207045386:A:C
Gene:: PFKFB2 (Varview), YOD1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.207045387A>C, NC_000001.10:g.207218732A>C, NM_018566.4:c.*3633T>G, NM_018566.3:c.*3633T>G, NM_001276320.2:c.*3633T>G, NM_001276320.1:c.*3633T>G, XM_047424447.1:c.*3633T>G

Select item 14904842675.

rs1490484267 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:207045913 (GRCh38)
1:207219258 (GRCh37)
Canonical SPDI:: NC_000001.11:207045912:T:G
Gene:: PFKFB2 (Varview), YOD1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_upstream_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_000001.11:g.207045913T>G, NC_000001.10:g.207219258T>G, NM_018566.4:c.*3107A>C, NM_018566.3:c.*3107A>C, NM_001276320.2:c.*3107A>C, NM_001276320.1:c.*3107A>C, XM_047424447.1:c.*3107A>C

Select item 14902550666.

rs1490255066 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:207043761 (GRCh38)
1:207217106 (GRCh37)
Canonical SPDI:: NC_000001.11:207043760:G:T
Gene:: PFKFB2 (Varview), YOD1 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.207043761G>T, NC_000001.10:g.207217106G>T

Select item 14897364117.

rs1489736411 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 1:207044313 (GRCh38)
1:207217658 (GRCh37)
Canonical SPDI:: NC_000001.11:207044312:A:G,NC_000001.11:207044312:A:T
Gene:: PFKFB2 (Varview), YOD1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.207044313A>G, NC_000001.11:g.207044313A>T, NC_000001.10:g.207217658A>G, NC_000001.10:g.207217658A>T, NM_018566.4:c.*4707T>C, NM_018566.4:c.*4707T>A, NM_018566.3:c.*4707T>C, NM_018566.3:c.*4707T>A, NM_001276320.2:c.*4707T>C, NM_001276320.2:c.*4707T>A, NM_001276320.1:c.*4707T>C, NM_001276320.1:c.*4707T>A, XM_047424447.1:c.*4707T>C, XM_047424447.1:c.*4707T>A

Select item 14892593298.

rs1489259329 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:207048114 (GRCh38)
1:207221459 (GRCh37)
Canonical SPDI:: NC_000001.11:207048113:T:G
Gene:: PFKFB2 (Varview), YOD1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,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_000001.11:g.207048114T>G, NC_000001.10:g.207221459T>G, NM_018566.4:c.*906A>C, NM_018566.3:c.*906A>C, NM_001276320.2:c.*906A>C, NM_001276320.1:c.*906A>C, XM_047424447.1:c.*906A>C

Select item 14892067559.

rs1489206755 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:207046948 (GRCh38)
1:207220293 (GRCh37)
Canonical SPDI:: NC_000001.11:207046947:G:T
Gene:: PFKFB2 (Varview), YOD1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.207046948G>T, NC_000001.10:g.207220293G>T, NM_018566.4:c.*2072C>A, NM_018566.3:c.*2072C>A, NM_001276320.2:c.*2072C>A, NM_001276320.1:c.*2072C>A, XM_047424447.1:c.*2072C>A

Select item 148878142310.

rs1488781423 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AACCAT [Show Flanks]
Chromosome:: 1:207047094 (GRCh38)
1:207220440 (GRCh37)
Canonical SPDI:: NC_000001.11:207047094:AACCAT:AACCATAACCAT
Gene:: PFKFB2 (Varview), YOD1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AACCATAACCAT=0./0 (ALFA)
AACCAT=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.207047095_207047100dup, NC_000001.10:g.207220440_207220445dup, NM_018566.4:c.*1920_*1925dup, NM_018566.3:c.*1920_*1925dup, NM_001276320.2:c.*1920_*1925dup, NM_001276320.1:c.*1920_*1925dup, XM_047424447.1:c.*1920_*1925dup

Select item 148868374211.

rs1488683742 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:207050379 (GRCh38)
1:207223724 (GRCh37)
Canonical SPDI:: NC_000001.11:207050378:C:G
Gene:: PFKFB2 (Varview), YOD1 (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=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.207050379C>G, NC_000001.10:g.207223724C>G

Select item 148852228312.

rs1488522283 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:207051225 (GRCh38)
1:207224570 (GRCh37)
Canonical SPDI:: NC_000001.11:207051224:G:T
Gene:: PFKFB2 (Varview), YOD1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_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_000001.11:g.207051225G>T, NC_000001.10:g.207224570G>T

Select item 148788279713.

rs1487882797 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:207050462 (GRCh38)
1:207223807 (GRCh37)
Canonical SPDI:: NC_000001.11:207050461:T:C
Gene:: PFKFB2 (Varview), YOD1 (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_000001.11:g.207050462T>C, NC_000001.10:g.207223807T>C

Select item 148757608014.

rs1487576080 [Homo sapiens]

Variant type:: DELINS
Alleles:: CAAA>- [Show Flanks]
Chromosome:: 1:207046397 (GRCh38)
1:207219742 (GRCh37)
Canonical SPDI:: NC_000001.11:207046385:AAACAAACAAACAAA:AAACAAACAAA
Gene:: PFKFB2 (Varview), YOD1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAACAAACAAA=0./0 (ALFA)
-=0.000021/3 (GnomAD)
-=0.000023/6 (TOPMED)
HGVS:: NC_000001.11:g.207046389CAAA[2], NC_000001.10:g.207219734CAAA[2], NM_018566.4:c.*2623GTTT[2], NM_018566.3:c.*2623GTTT[2], NM_001276320.2:c.*2623GTTT[2], NM_001276320.1:c.*2623GTTT[2], XM_047424447.1:c.*2623GTTT[2]

Select item 148707147815.

rs1487071478 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:207054596 (GRCh38)
1:207227941 (GRCh37)
Canonical SPDI:: NC_000001.11:207054595:C:T
Gene:: PFKFB2 (Varview), YOD1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.207054596C>T, NC_000001.10:g.207227941C>T

Select item 148696067216.

rs1486960672 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 1:207044730 (GRCh38)
1:207218075 (GRCh37)
Canonical SPDI:: NC_000001.11:207044729:A:C,NC_000001.11:207044729:A:G,NC_000001.11:207044729:A:T
Gene:: PFKFB2 (Varview), YOD1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.207044730A>C, NC_000001.11:g.207044730A>G, NC_000001.11:g.207044730A>T, NC_000001.10:g.207218075A>C, NC_000001.10:g.207218075A>G, NC_000001.10:g.207218075A>T, NM_018566.4:c.*4290T>G, NM_018566.4:c.*4290T>C, NM_018566.4:c.*4290T>A, NM_018566.3:c.*4290T>G, NM_018566.3:c.*4290T>C, NM_018566.3:c.*4290T>A, NM_001276320.2:c.*4290T>G, NM_001276320.2:c.*4290T>C, NM_001276320.2:c.*4290T>A, NM_001276320.1:c.*4290T>G, NM_001276320.1:c.*4290T>C, NM_001276320.1:c.*4290T>A, XM_047424447.1:c.*4290T>G, XM_047424447.1:c.*4290T>C, XM_047424447.1:c.*4290T>A

Select item 148676720517.

rs1486767205 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:207050130 (GRCh38)
1:207223475 (GRCh37)
Canonical SPDI:: NC_000001.11:207050129:C:T
Gene:: PFKFB2 (Varview), YOD1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.207050130C>T, NC_000001.10:g.207223475C>T

Select item 148534367318.

rs1485343673 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:207052218 (GRCh38)
1:207225563 (GRCh37)
Canonical SPDI:: NC_000001.11:207052217:T:C
Gene:: PFKFB2 (Varview), YOD1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.207052218T>C, NC_000001.10:g.207225563T>C, NM_001276320.2:c.18A>G, NM_001276320.1:c.18A>G, XM_047424447.1:c.18A>G, NP_001263249.1:p.Ile6Met, XP_047280403.1:p.Ile6Met

Select item 148510172019.

rs1485101720 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:207044121 (GRCh38)
1:207217466 (GRCh37)
Canonical SPDI:: NC_000001.11:207044120:T:C
Gene:: PFKFB2 (Varview), YOD1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000019/5 (TOPMED)
HGVS:: NC_000001.11:g.207044121T>C, NC_000001.10:g.207217466T>C, NM_018566.4:c.*4899A>G, NM_018566.3:c.*4899A>G, NM_001276320.2:c.*4899A>G, NM_001276320.1:c.*4899A>G, XM_047424447.1:c.*4899A>G

Select item 148475316420.

rs1484753164 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:207052781 (GRCh38)
1:207226126 (GRCh37)
Canonical SPDI:: NC_000001.11:207052780:A:G
Gene:: PFKFB2 (Varview), YOD1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.207052781A>G, NC_000001.10:g.207226126A>G

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