SNP Links for Gene (Select 5216) - SNP

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Select item 14909653201.

rs1490965320 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:4945525 (GRCh38)
17:4848820 (GRCh37)
Canonical SPDI:: NC_000017.11:4945524:C:G
Gene:: PFN1 (Varview), RNF167 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000017.11:g.4945525C>G, NC_000017.10:g.4848820C>G, NG_012063.2:g.4435C>G, NG_032945.1:g.8562G>C

Select item 14907099252.

rs1490709925 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:4946911 (GRCh38)
17:4850206 (GRCh37)
Canonical SPDI:: NC_000017.11:4946910:G:A
Gene:: ENO3 (Varview), PFN1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
A=0.000177/3 (TOMMO)
HGVS:: NC_000017.11:g.4946911G>A, NC_000017.10:g.4850206G>A, NG_012063.2:g.5821G>A, NG_032945.1:g.7176C>T

Select item 14905743483.

rs1490574348 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTAA>- [Show Flanks]
Chromosome:: 17:4946402 (GRCh38)
17:4849697 (GRCh37)
Canonical SPDI:: NC_000017.11:4946396:AGTAAGTAA:AGTAA
Gene:: PFN1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGTAA=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.4946398GTAA[1], NC_000017.10:g.4849693GTAA[1], NG_012063.2:g.5308GTAA[1], NG_032945.1:g.7683TACT[1], NM_001375991.1:c.*3TACT[1]

Select item 14905426304.

rs1490542630 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 17:4946098 (GRCh38)
17:4849394 (GRCh37)
Canonical SPDI:: NC_000017.11:4946098::T
Gene:: PFN1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.4946098_4946099insT, NC_000017.10:g.4849393_4849394insT, NG_012063.2:g.5008_5009insT, NG_032945.1:g.7988_7989insA, NM_001375991.1:c.*308_*309insA

Select item 14904668645.

rs1490466864 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:4950396 (GRCh38)
17:4853691 (GRCh37)
Canonical SPDI:: NC_000017.11:4950395:T:C
Gene:: ENO3 (Varview), PFN1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.4950396T>C, NC_000017.10:g.4853691T>C, NG_012063.2:g.9306T>C, NG_032945.1:g.3691A>G

Select item 14902650036.

rs1490265003 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:4945229 (GRCh38)
17:4848524 (GRCh37)
Canonical SPDI:: NC_000017.11:4945228:G:T
Gene:: PFN1 (Varview), RNF167 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_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_000017.11:g.4945229G>T, NC_000017.10:g.4848524G>T, NG_012063.2:g.4139G>T, NG_032945.1:g.8858C>A

Select item 14902182287.

rs1490218228 [Homo sapiens]

Variant type:: SNV:
Alleles:: CA>-
Chromosome:: no mapping
Canonical SPDI:

Select item 14898974038.

rs1489897403 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:4950858 (GRCh38)
17:4854153 (GRCh37)
Canonical SPDI:: NC_000017.11:4950857:C:T
Gene:: ENO3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
HGVS:: NC_000017.11:g.4950858C>T, NC_000017.10:g.4854153C>T, NG_012063.2:g.9768C>T, NG_032945.1:g.3229G>A

Select item 14888663989.

rs1488866398 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:4948302 (GRCh38)
17:4851597 (GRCh37)
Canonical SPDI:: NC_000017.11:4948301:G:A,NC_000017.11:4948301:G:C
Gene:: ENO3 (Varview), PFN1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.4948302G>A, NC_000017.11:g.4948302G>C, NC_000017.10:g.4851597G>A, NC_000017.10:g.4851597G>C, NG_012063.2:g.7212G>A, NG_012063.2:g.7212G>C, NG_032945.1:g.5785C>T, NG_032945.1:g.5785C>G, NM_005022.4:c.93C>T, NM_005022.4:c.93C>G, NM_005022.3:c.93C>T, NM_005022.3:c.93C>G, NM_001375991.1:c.93C>T, NM_001375991.1:c.93C>G

Select item 148839477110.

rs1488394771 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:4950611 (GRCh38)
17:4853906 (GRCh37)
Canonical SPDI:: NC_000017.11:4950610:C:T
Gene:: ENO3 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000017.11:g.4950611C>T, NC_000017.10:g.4853906C>T, NG_012063.2:g.9521C>T, NM_001374524.1:c.6C>T, NG_032945.1:g.3476G>A

Select item 148824116711.

rs1488241167 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:4945794 (GRCh38)
17:4849089 (GRCh37)
Canonical SPDI:: NC_000017.11:4945793:A:G
Gene:: PFN1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.4945794A>G, NC_000017.10:g.4849089A>G, NG_012063.2:g.4704A>G, NG_032945.1:g.8293T>C, NM_005022.4:c.*106T>C, NM_005022.3:c.*106T>C, NM_001375991.1:c.*613T>C

Select item 148718168212.

rs1487181682 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 17:4949015 (GRCh38)
17:4852310 (GRCh37)
Canonical SPDI:: NC_000017.11:4949014:T:C,NC_000017.11:4949014:T:G
Gene:: ENO3 (Varview), PFN1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000022/3 (GnomAD)
C=0.000312/2 (1000Genomes)
HGVS:: NC_000017.11:g.4949015T>C, NC_000017.11:g.4949015T>G, NC_000017.10:g.4852310T>C, NC_000017.10:g.4852310T>G, NG_012063.2:g.7925T>C, NG_012063.2:g.7925T>G, NG_032945.1:g.5072A>G, NG_032945.1:g.5072A>C, NM_005022.3:c.-621A>G, NM_005022.3:c.-621A>C, XM_011523729.2:c.-281T>C, XM_011523729.2:c.-281T>G

Select item 148576372613.

rs1485763726 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTTC>- [Show Flanks]
Chromosome:: 17:4946526 (GRCh38)
17:4849821 (GRCh37)
Canonical SPDI:: NC_000017.11:4946524:CCTTC:C
Gene:: PFN1 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.00003/8 (TOPMED)
HGVS:: NC_000017.11:g.4946526_4946529del, NC_000017.10:g.4849821_4849824del, NG_012063.2:g.5436_5439del, NG_032945.1:g.7559_7562del, NM_001375991.1:c.425_428del, NP_001362920.1:p.Glu142fs

Select item 148567685114.

rs1485676851 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:4948507 (GRCh38)
17:4851802 (GRCh37)
Canonical SPDI:: NC_000017.11:4948506:C:G,NC_000017.11:4948506:C:T
Gene:: ENO3 (Varview), PFN1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000017.11:g.4948507C>G, NC_000017.11:g.4948507C>T, NC_000017.10:g.4851802C>G, NC_000017.10:g.4851802C>T, NG_012063.2:g.7417C>G, NG_012063.2:g.7417C>T, NG_032945.1:g.5580G>C, NG_032945.1:g.5580G>A, NM_005022.4:c.-113G>C, NM_005022.4:c.-113G>A, NM_005022.3:c.-113G>C, NM_005022.3:c.-113G>A, NM_001375991.1:c.-113G>C, NM_001375991.1:c.-113G>A

Select item 148513308315.

rs1485133083 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:4947466 (GRCh38)
17:4850761 (GRCh37)
Canonical SPDI:: NC_000017.11:4947465:C:G
Gene:: ENO3 (Varview), PFN1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
G=0.000156/1 (1000Genomes)
HGVS:: NC_000017.11:g.4947466C>G, NC_000017.10:g.4850761C>G, NG_012063.2:g.6376C>G, NG_032945.1:g.6621G>C

Select item 148503579116.

rs1485035791 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:4947976 (GRCh38)
17:4851271 (GRCh37)
Canonical SPDI:: NC_000017.11:4947975:G:T
Gene:: ENO3 (Varview), PFN1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.4947976G>T, NC_000017.10:g.4851271G>T, NG_012063.2:g.6886G>T, NG_032945.1:g.6111C>A

Select item 148492889617.

rs1484928896 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CCC [Show Flanks]
Chromosome:: 17:4950393 (GRCh38)
17:4853689 (GRCh37)
Canonical SPDI:: NC_000017.11:4950393:C:CCCC
Gene:: ENO3 (Varview), PFN1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: CCCC=0./0 (ALFA)
CCC=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.4950394_4950395insCCC, NC_000017.10:g.4853689_4853690insCCC, NG_012063.2:g.9304_9305insCCC, NG_032945.1:g.3693_3694insGGG

Select item 148481993418.

rs1484819934 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:4945856 (GRCh38)
17:4849151 (GRCh37)
Canonical SPDI:: NC_000017.11:4945855:G:A,NC_000017.11:4945855:G:C
Gene:: PFN1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
HGVS:: NC_000017.11:g.4945856G>A, NC_000017.11:g.4945856G>C, NC_000017.10:g.4849151G>A, NC_000017.10:g.4849151G>C, NG_012063.2:g.4766G>A, NG_012063.2:g.4766G>C, NG_032945.1:g.8231C>T, NG_032945.1:g.8231C>G, NM_005022.4:c.*44C>T, NM_005022.4:c.*44C>G, NM_005022.3:c.*44C>T, NM_005022.3:c.*44C>G, NM_001375991.1:c.*551C>T, NM_001375991.1:c.*551C>G

Select item 148458658019.

rs1484586580 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 17:4947478 (GRCh38)
17:4850773 (GRCh37)
Canonical SPDI:: NC_000017.11:4947477:T:C,NC_000017.11:4947477:T:G
Gene:: ENO3 (Varview), PFN1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00001/1 (GnomAD)
G=0.00062/17 (TOMMO)
HGVS:: NC_000017.11:g.4947478T>C, NC_000017.11:g.4947478T>G, NC_000017.10:g.4850773T>C, NC_000017.10:g.4850773T>G, NG_012063.2:g.6388T>C, NG_012063.2:g.6388T>G, NG_032945.1:g.6609A>G, NG_032945.1:g.6609A>C

Select item 148343103320.

rs1483431033 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:4947426 (GRCh38)
17:4850721 (GRCh37)
Canonical SPDI:: NC_000017.11:4947425:A:G
Gene:: ENO3 (Varview), PFN1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_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_000017.11:g.4947426A>G, NC_000017.10:g.4850721A>G, NG_012063.2:g.6336A>G, NG_032945.1:g.6661T>C

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