FEN1 - SNP - NCBI

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Select item 7507036751.

rs750703675 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:61795672 (GRCh38)
11:61563144 (GRCh37)
Canonical SPDI:: NC_000011.10:61795671:G:A
Gene:: FEN1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000028/7 (GnomAD_exomes)
A=0.000042/11 (TOPMED)
A=0.000042/5 (ExAC)
HGVS:: NC_000011.10:g.61795672G>A, NC_000011.9:g.61563144G>A, NM_004111.6:c.311G>A, NM_004111.5:c.311G>A, NP_004102.1:p.Arg104Gln

Select item 7645494652.

rs764549465 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 11:61796065 (GRCh38)
11:61563537 (GRCh37)
Canonical SPDI:: NC_000011.10:61796064:G:A,NC_000011.10:61796064:G:C
Gene:: FEN1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
C=0.000016/4 (GnomAD_exomes)
C=0.000025/3 (ExAC)
HGVS:: NC_000011.10:g.61796065G>A, NC_000011.10:g.61796065G>C, NC_000011.9:g.61563537G>A, NC_000011.9:g.61563537G>C, NM_004111.6:c.704G>A, NM_004111.6:c.704G>C, NM_004111.5:c.704G>A, NM_004111.5:c.704G>C, NP_004102.1:p.Cys235Tyr, NP_004102.1:p.Cys235Ser

Select item 1745383.

rs174538 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 11:61792609 (GRCh38)
11:61560081 (GRCh37)
Canonical SPDI:: NC_000011.10:61792608:G:A,NC_000011.10:61792608:G:T
Gene:: TMEM258 (Varview), FEN1 (Varview), MIR611 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.288749/62945 (ALFA)
A=0.184211/329 (HapMap)
G=0.204918/125 (Vietnamese)
A=0.22335/2904 (GoESP)
A=0.226852/49 (Qatari)
A=0.237828/127 (MGP)
A=0.258298/36201 (GnomAD)
A=0.26916/71244 (TOPMED)
G=0.27451/84 (SGDP_PRJ)
A=0.28123/1408 (1000Genomes)
A=0.295278/1138 (ALSPAC)
A=0.3/12 (GENOME_DK)
A=0.301676/23725 (PAGE_STUDY)
G=0.309524/13 (Siberian)
A=0.313646/1163 (TWINSUK)
A=0.315115/38047 (ExAC)
A=0.31942/1431 (Estonian)
A=0.323647/323 (GoNL)
A=0.323891/949 (KOREAN)
A=0.329694/604 (Korea1K)
A=0.335/201 (NorthernSweden)
A=0.337975/267 (PRJEB37584)
A=0.3382/84418 (GnomAD_exomes)
A=0.37561/6294 (TOMMO)
A=0.377483/114 (FINRISK)
A=0.428571/6 (PRJEB36033)
HGVS:: NC_000011.10:g.61792609G>A, NC_000011.10:g.61792609G>T, NC_000011.9:g.61560081G>A, NC_000011.9:g.61560081G>T, NG_074578.1:g.93G>A, NG_074578.1:g.93G>T, NM_014206.3:c.-51C>T, NM_014206.3:c.-51C>A

PubMed LitVar

Select item 1745394.

rs174539 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:61794438 (GRCh38)
11:61561910 (GRCh37)
Canonical SPDI:: NC_000011.10:61794437:T:C
Gene:: TMEM258 (Varview), FEN1 (Varview), MIR611 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by cluster
HGVS:: NC_000011.10:g.61794438T>C, NC_000011.9:g.61561910T>C

Select item 3685685.

rs368568 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 11:61793063 (GRCh38)
11:61560535 (GRCh37)
Canonical SPDI:: NC_000011.10:61793062:G:A,NC_000011.10:61793062:G:C
Gene:: TMEM258 (Varview), FEN1 (Varview), MIR611 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000011.10:g.61793063G>A, NC_000011.10:g.61793063G>C, NC_000011.9:g.61560535G>A, NC_000011.9:g.61560535G>C

Select item 3934876.

rs393487 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 11:61795333 (GRCh38)
11:61562805 (GRCh37)
Canonical SPDI:: NC_000011.10:61795332:T:A,NC_000011.10:61795332:T:C
Gene:: FEN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0./0 (HapMap)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.61795333T>A, NC_000011.10:g.61795333T>C, NC_000011.9:g.61562805T>A, NC_000011.9:g.61562805T>C

Select item 4115947.

rs411594 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 11:61793062 (GRCh38)
11:61560534 (GRCh37)
Canonical SPDI:: NC_000011.10:61793061:C:A,NC_000011.10:61793061:C:G
Gene:: TMEM258 (Varview), FEN1 (Varview), MIR611 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000011.10:g.61793062C>A, NC_000011.10:g.61793062C>G, NC_000011.9:g.61560534C>A, NC_000011.9:g.61560534C>G

Select item 4123348.

rs412334 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:61792789 (GRCh38)
11:61560261 (GRCh37)
Canonical SPDI:: NC_000011.10:61792788:C:T
Gene:: TMEM258 (Varview), FEN1 (Varview), MIR611 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.137304/27942 (ALFA)
T=0.023148/5 (Qatari)
T=0.039347/82 (HGDP_Stanford)
T=0.049188/246 (1000Genomes)
T=0.050789/3995 (PAGE_STUDY)
T=0.0625/79 (HapMap)
T=0.095806/25359 (TOPMED)
T=0.102669/14392 (GnomAD)
T=0.118333/71 (NorthernSweden)
T=0.126339/566 (Estonian)
T=0.149196/575 (ALSPAC)
T=0.156313/156 (GoNL)
T=0.159655/592 (TWINSUK)
T=0.2/16 (PRJEB36033)
T=0.225/9 (GENOME_DK)
C=0.464286/26 (SGDP_PRJ)
C=0.5/6 (Siberian)
HGVS:: NC_000011.10:g.61792789C>T, NC_000011.9:g.61560261C>T, NG_074578.1:g.273C>T, NM_004111.5:c.-261C>T

PubMed

Select item 4363259.

rs436325 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:61792283 (GRCh38)
11:61559755 (GRCh37)
Canonical SPDI:: NC_000011.10:61792282:A:C
Gene:: TMEM258 (Varview), FEN1 (Varview), MIR611 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency
MAF:: C=0./0 (HapMap)
HGVS:: NC_000011.10:g.61792283A>C, NC_000011.9:g.61559755A>C

Select item 44560610.

rs445606 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 11:61797557 (GRCh38)
11:61565029 (GRCh37)
Canonical SPDI:: NC_000011.10:61797556:C:A,NC_000011.10:61797556:C:G,NC_000011.10:61797556:C:T
Gene:: FEN1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0./0 (HapMap)
T=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.61797557C>A, NC_000011.10:g.61797557C>G, NC_000011.10:g.61797557C>T, NC_000011.9:g.61565029C>A, NC_000011.9:g.61565029C>G, NC_000011.9:g.61565029C>T

Select item 61895511.

rs618955 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 11:61791127 (GRCh38)
11:61558599 (GRCh37)
Canonical SPDI:: NC_000011.10:61791126:T:C,NC_000011.10:61791126:T:G
Gene:: TMEM258 (Varview), FEN1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.61791127T>C, NC_000011.10:g.61791127T>G, NC_000011.9:g.61558599T>C, NC_000011.9:g.61558599T>G

Select item 69586512.

rs695865 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:61791974 (GRCh38)
11:61559446 (GRCh37)
Canonical SPDI:: NC_000011.10:61791973:C:T
Gene:: TMEM258 (Varview), FEN1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.005964/86 (ALFA)
T=0.000259/1 (ALSPAC)
T=0.000539/2 (TWINSUK)
T=0.001002/1 (GoNL)
T=0.008129/1140 (GnomAD)
T=0.008791/2327 (TOPMED)
T=0.013429/67 (1000Genomes)
T=0.018519/4 (Qatari)
C=0.5/9 (SGDP_PRJ)
HGVS:: NC_000011.10:g.61791974C>T, NC_000011.9:g.61559446C>T

Select item 69586713.

rs695867 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:61793816 (GRCh38)
11:61561288 (GRCh37)
Canonical SPDI:: NC_000011.10:61793815:A:G
Gene:: TMEM258 (Varview), FEN1 (Varview), MIR611 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.035786/6988 (ALFA)
G=0./0 (PRJEB36033)
G=0.001345/23 (TOMMO)
G=0.005476/16 (KOREAN)
G=0.009259/2 (Qatari)
G=0.013927/1096 (PAGE_STUDY)
G=0.018426/92 (1000Genomes)
G=0.020154/42 (HGDP_Stanford)
G=0.02069/30 (HapMap)
G=0.024787/6561 (TOPMED)
G=0.025/1 (GENOME_DK)
G=0.025986/3644 (GnomAD)
G=0.026667/16 (NorthernSweden)
G=0.029911/134 (Estonian)
G=0.032407/7 (Vietnamese)
G=0.032434/125 (ALSPAC)
G=0.036947/137 (TWINSUK)
G=0.041082/41 (GoNL)
A=0.458333/11 (SGDP_PRJ)
HGVS:: NC_000011.10:g.61793816A>G, NC_000011.9:g.61561288A>G

LitVar

Select item 69586814.

rs695868 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:61796534 (GRCh38)
11:61564006 (GRCh37)
Canonical SPDI:: NC_000011.10:61796533:C:G
Gene:: FEN1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.001472/41 (ALFA)
G=0.000472/6 (GoESP)
G=0.00062/164 (TOPMED)
G=0.000625/3 (1000Genomes)
G=0.000734/103 (GnomAD)
G=0.000901/159 (GnomAD_exomes)
G=0.001297/5 (ALSPAC)
G=0.001348/5 (TWINSUK)
G=0.001667/1 (NorthernSweden)
G=0.001836/89 (ExAC)
G=0.001873/1 (MGP)
G=0.00463/1 (Qatari)
HGVS:: NC_000011.10:g.61796534C>G, NC_000011.9:g.61564006C>G, NM_004111.6:c.*30C>G, NM_004111.5:c.*30C>G

Select item 69586915.

rs695869 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 11:61796587 (GRCh38)
11:61564059 (GRCh37)
Canonical SPDI:: NC_000011.10:61796586:C:G,NC_000011.10:61796586:C:T
Gene:: FEN1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.004341/82 (ALFA)
T=0.001667/1 (NorthernSweden)
T=0.004315/16 (TWINSUK)
T=0.004411/17 (ALSPAC)
T=0.00501/5 (GoNL)
T=0.00609/30 (1000Genomes)
T=0.006304/884 (GnomAD)
T=0.00694/1837 (TOPMED)
T=0.009363/5 (MGP)
T=0.018519/4 (Qatari)
C=0.5/3 (SGDP_PRJ)
HGVS:: NC_000011.10:g.61796587C>G, NC_000011.10:g.61796587C>T, NC_000011.9:g.61564059C>G, NC_000011.9:g.61564059C>T, NM_004111.6:c.*83C>G, NM_004111.6:c.*83C>T, NM_004111.5:c.*83C>G, NM_004111.5:c.*83C>T

Select item 180357316.

rs1803573 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:61796432 (GRCh38)
11:61563904 (GRCh37)
Canonical SPDI:: NC_000011.10:61796431:G:T
Gene:: FEN1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000011.10:g.61796432G>T, NC_000011.9:g.61563904G>T, NM_004111.6:c.1071G>T, NM_004111.5:c.1071G>T, NP_004102.1:p.Glu357Asp

Select item 321883217.

rs3218832 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:61791717 (GRCh38)
11:61559189 (GRCh37)
Canonical SPDI:: NC_000011.10:61791716:T:C
Gene:: TMEM258 (Varview), FEN1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.003017/57 (ALFA)
C=0./0 (HapMap)
C=0.000223/1 (Estonian)
C=0.00027/1 (TWINSUK)
C=0.000778/3 (ALSPAC)
C=0.004991/700 (GnomAD)
C=0.005153/26 (1000Genomes)
C=0.005319/1408 (TOPMED)
C=0.009259/2 (Qatari)
T=0.5/3 (SGDP_PRJ)
HGVS:: NC_000011.10:g.61791717T>C, NC_000011.9:g.61559189T>C

Select item 321883318.

rs3218833 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:61792118 (GRCh38)
11:61559590 (GRCh37)
Canonical SPDI:: NC_000011.10:61792117:G:T
Gene:: TMEM258 (Varview), FEN1 (Varview), MIR611 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (HapMap)
T=0.000008/2 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000011.10:g.61792118G>T, NC_000011.9:g.61559590G>T

Select item 321883419.

rs3218834 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:61792588 (GRCh38)
11:61560060 (GRCh37)
Canonical SPDI:: NC_000011.10:61792587:C:T
Gene:: TMEM258 (Varview), FEN1 (Varview), MIR611 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000033/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.61792588C>T, NC_000011.9:g.61560060C>T, NG_074578.1:g.72C>T, NM_014206.4:c.-30G>A, NM_014206.3:c.-30G>A

Select item 321883520.

rs3218835 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:61792596 (GRCh38)
11:61560068 (GRCh37)
Canonical SPDI:: NC_000011.10:61792595:G:C
Gene:: TMEM258 (Varview), FEN1 (Varview), MIR611 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.005231/152 (ALFA)
C=0.001562/8 (1000Genomes)
C=0.00303/1 (HapMap)
C=0.003064/811 (TOPMED)
C=0.003333/2 (NorthernSweden)
C=0.003692/518 (GnomAD)
C=0.00375/939 (GnomAD_exomes)
C=0.004146/501 (ExAC)
C=0.005076/66 (GoESP)
C=0.006742/25 (TWINSUK)
C=0.007006/27 (ALSPAC)
C=0.008016/8 (GoNL)
C=0.008705/39 (Estonian)
HGVS:: NC_000011.10:g.61792596G>C, NC_000011.9:g.61560068G>C, NG_074578.1:g.80G>C, NM_014206.4:c.-38C>G, NM_014206.3:c.-38C>G

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