SNP Links for Nucleotide (Select 1008909436) - SNP

Links from Nucleotide

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Select item 14915512091.

rs1491551209 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 1:214603823 (GRCh38)
1:214777166 (GRCh37)
Canonical SPDI:: NC_000001.11:214603822:AT:
Gene:: CENPF (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000001.11:g.214603823_214603824del, NC_000001.10:g.214777166_214777167del, NG_046787.1:g.5645_5646del

Select item 14915338732.

rs1491533873 has merged into rs5780800 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTTT,TTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:214653479 (GRCh38)
1:214826822 (GRCh37)
Canonical SPDI:: NC_000001.11:214653467:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:214653467:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:214653467:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:214653467:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:214653467:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:214653467:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:214653467:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: CENPF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
T=0./0 (GENOME_DK)
T=0.0013/5 (TWINSUK)
T=0.0018/7 (ALSPAC)
T=0.0218/13 (NorthernSweden)
T=0.4868/2438 (1000Genomes)
HGVS:: NC_000001.11:g.214653479_214653482del, NC_000001.11:g.214653480_214653482del, NC_000001.11:g.214653481_214653482del, NC_000001.11:g.214653482del, NC_000001.11:g.214653482dup, NC_000001.11:g.214653480_214653482dup, NC_000001.11:g.214653472_214653482dup, NC_000001.10:g.214826822_214826825del, NC_000001.10:g.214826823_214826825del, NC_000001.10:g.214826824_214826825del, NC_000001.10:g.214826825del, NC_000001.10:g.214826825dup, NC_000001.10:g.214826823_214826825dup, NC_000001.10:g.214826815_214826825dup, NG_046787.1:g.55301_55304del, NG_046787.1:g.55302_55304del, NG_046787.1:g.55303_55304del, NG_046787.1:g.55304del, NG_046787.1:g.55304dup, NG_046787.1:g.55302_55304dup, NG_046787.1:g.55294_55304dup

Select item 14914778433.

rs1491477843 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 1:214616876 (GRCh38)
1:214790220 (GRCh37)
Canonical SPDI:: NC_000001.11:214616876:C:CC
Gene:: CENPF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
HGVS:: NC_000001.11:g.214616877dup, NC_000001.10:g.214790220dup, NG_046787.1:g.18699dup

Select item 14914467664.

rs1491446766 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 1:214616913 (GRCh38)
1:214790256 (GRCh37)
Canonical SPDI:: NC_000001.11:214616911:TCT:T
Gene:: CENPF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.214616913_214616914del, NC_000001.10:g.214790256_214790257del, NG_046787.1:g.18735_18736del

Select item 14914033555.

rs1491403355 has merged into rs10686407 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTT>-,T,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:214627380 (GRCh38)
1:214800723 (GRCh37)
Canonical SPDI:: NC_000001.11:214627369:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000001.11:214627369:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:214627369:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:214627369:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:214627369:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:214627369:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:214627369:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:214627369:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:214627369:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:214627369:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:214627369:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:214627369:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:214627369:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:214627369:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:214627369:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:214627369:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: CENPF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000001.11:g.214627380_214627390del, NC_000001.11:g.214627381_214627390del, NC_000001.11:g.214627385_214627390del, NC_000001.11:g.214627386_214627390del, NC_000001.11:g.214627387_214627390del, NC_000001.11:g.214627388_214627390del, NC_000001.11:g.214627389_214627390del, NC_000001.11:g.214627390del, NC_000001.11:g.214627390dup, NC_000001.11:g.214627389_214627390dup, NC_000001.11:g.214627388_214627390dup, NC_000001.11:g.214627387_214627390dup, NC_000001.11:g.214627386_214627390dup, NC_000001.11:g.214627385_214627390dup, NC_000001.11:g.214627384_214627390dup, NC_000001.11:g.214627383_214627390dup, NC_000001.10:g.214800723_214800733del, NC_000001.10:g.214800724_214800733del, NC_000001.10:g.214800728_214800733del, NC_000001.10:g.214800729_214800733del, NC_000001.10:g.214800730_214800733del, NC_000001.10:g.214800731_214800733del, NC_000001.10:g.214800732_214800733del, NC_000001.10:g.214800733del, NC_000001.10:g.214800733dup, NC_000001.10:g.214800732_214800733dup, NC_000001.10:g.214800731_214800733dup, NC_000001.10:g.214800730_214800733dup, NC_000001.10:g.214800729_214800733dup, NC_000001.10:g.214800728_214800733dup, NC_000001.10:g.214800727_214800733dup, NC_000001.10:g.214800726_214800733dup, NG_046787.1:g.29202_29212del, NG_046787.1:g.29203_29212del, NG_046787.1:g.29207_29212del, NG_046787.1:g.29208_29212del, NG_046787.1:g.29209_29212del, NG_046787.1:g.29210_29212del, NG_046787.1:g.29211_29212del, NG_046787.1:g.29212del, NG_046787.1:g.29212dup, NG_046787.1:g.29211_29212dup, NG_046787.1:g.29210_29212dup, NG_046787.1:g.29209_29212dup, NG_046787.1:g.29208_29212dup, NG_046787.1:g.29207_29212dup, NG_046787.1:g.29206_29212dup, NG_046787.1:g.29205_29212dup

Select item 14913073896.

rs1491307389 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 1:214616877 (GRCh38)
1:214790220 (GRCh37)
Canonical SPDI:: NC_000001.11:214616875:TCT:T
Gene:: CENPF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.214616877_214616878del, NC_000001.10:g.214790220_214790221del, NG_046787.1:g.18699_18700del

Select item 14912437967.

rs1491243796 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T,TT,TTCTTT,TTCTTTCTTT [Show Flanks]
Chromosome:: 1:214616835 (GRCh38)
1:214790179 (GRCh37)
Canonical SPDI:: NC_000001.11:214616835:T:TT,NC_000001.11:214616835:T:TTT,NC_000001.11:214616835:T:TTTCTTT,NC_000001.11:214616835:T:TTTCTTTCTTT
Gene:: CENPF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
HGVS:: NC_000001.11:g.214616836dup, NC_000001.11:g.214616836_214616837insTT, NC_000001.11:g.214616836_214616837insTTCTTT, NC_000001.11:g.214616836TTTC[2]TTT[1], NC_000001.10:g.214790179dup, NC_000001.10:g.214790179_214790180insTT, NC_000001.10:g.214790179_214790180insTTCTTT, NC_000001.10:g.214790179TTTC[2]TTT[1], NG_046787.1:g.18658dup, NG_046787.1:g.18658_18659insTT, NG_046787.1:g.18658_18659insTTCTTT, NG_046787.1:g.18658TTTC[2]TTT[1]

Select item 14912231928.

rs1491223192 has merged into rs112698986 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT [Show Flanks]
Chromosome:: 1:214603833 (GRCh38)
1:214777176 (GRCh37)
Canonical SPDI:: NC_000001.11:214603823:TTTTTTTTTTT:TTTTTTTTT,NC_000001.11:214603823:TTTTTTTTTTT:TTTTTTTTTT,NC_000001.11:214603823:TTTTTTTTTTT:TTTTTTTTTTTT
Gene:: CENPF (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0.00278/36 (ALFA)
-=0.05345/206 (ALSPAC)
-=0.05744/213 (TWINSUK)
-=0.125/5 (GENOME_DK)
-=0.13152/598 (1000Genomes)
HGVS:: NC_000001.11:g.214603833_214603834del, NC_000001.11:g.214603834del, NC_000001.11:g.214603834dup, NC_000001.10:g.214777176_214777177del, NC_000001.10:g.214777177del, NC_000001.10:g.214777177dup, NG_046787.1:g.5655_5656del, NG_046787.1:g.5656del, NG_046787.1:g.5656dup

Select item 14912031369.

rs1491203136 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 1:214602366 (GRCh38)
1:214775710 (GRCh37)
Canonical SPDI:: NC_000001.11:214602366:GGGGG:GGGGGG
Gene:: CENPF (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGG=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.214602371dup, NC_000001.10:g.214775714dup, NG_046787.1:g.4193dup

Select item 149112650510.

rs1491126505 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 1:214616837 (GRCh38)
1:214790180 (GRCh37)
Canonical SPDI:: NC_000001.11:214616834:CTCT:CT
Gene:: CENPF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CTCT=0./0 (ALFA)
HGVS:: NC_000001.11:g.214616835CT[1], NC_000001.10:g.214790178CT[1], NG_046787.1:g.18657CT[1]

Select item 149111760611.

rs1491117606 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 1:214616912 (GRCh38)
1:214790256 (GRCh37)
Canonical SPDI:: NC_000001.11:214616912:C:CC
Gene:: CENPF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
HGVS:: NC_000001.11:g.214616913dup, NC_000001.10:g.214790256dup, NG_046787.1:g.18735dup

Select item 149102703012.

rs1491027030 has merged into rs11307420 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA [Show Flanks]
Chromosome:: 1:214656832 (GRCh38)
1:214830175 (GRCh37)
Canonical SPDI:: NC_000001.11:214656822:AAAAAAAAAAA:AAAAAAAAA,NC_000001.11:214656822:AAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:214656822:AAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:214656822:AAAAAAAAAAA:AAAAAAAAAAAAA
Gene:: CENPF (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
A=0.355204/1727 (1000Genomes)
A=0.425/17 (GENOME_DK)
A=0.436667/262 (NorthernSweden)
A=0.449601/119005 (TOPMED)
A=0.453344/1681 (TWINSUK)
A=0.459782/1772 (ALSPAC)
A=0.462926/462 (GoNL)
HGVS:: NC_000001.11:g.214656832_214656833del, NC_000001.11:g.214656833del, NC_000001.11:g.214656833dup, NC_000001.11:g.214656832_214656833dup, NC_000001.10:g.214830175_214830176del, NC_000001.10:g.214830176del, NC_000001.10:g.214830176dup, NC_000001.10:g.214830175_214830176dup, NG_046787.1:g.58654_58655del, NG_046787.1:g.58655del, NG_046787.1:g.58655dup, NG_046787.1:g.58654_58655dup

Select item 149092443113.

rs1490924431 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTT [Show Flanks]
Chromosome:: 1:214628380 (GRCh38)
1:214801724 (GRCh37)
Canonical SPDI:: NC_000001.11:214628380:GTT:GTTGTT
Gene:: CENPF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GTTGTT=0./0 (ALFA)
GTT=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.214628381_214628383dup, NC_000001.10:g.214801724_214801726dup, NG_046787.1:g.30203_30205dup

Select item 149088698614.

rs1490886986 [Homo sapiens]

Variant type:: DEL
Alleles:: GGACACAAA>- [Show Flanks]
Chromosome:: 1:214651871 (GRCh38)
1:214825214 (GRCh37)
Canonical SPDI:: NC_000001.11:214651870:GGACACAAA:
Gene:: CENPF (Varview)
Functional Consequence:: intron_variant,inframe_indel,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000001.11:g.214651871_214651879del, NC_000001.10:g.214825214_214825222del, NG_046787.1:g.53693_53701del, NM_016343.4:c.8145_8153del, NM_016343.3:c.8145_8153del, XM_017000086.3:c.8145_8153del, XM_017000086.2:c.8145_8153del, XM_017000086.1:c.8145_8153del, NM_005196.1:c.8433_8441del, NP_057427.3:p.Leu2715_Asn2718delinsPhe, XP_016855575.1:p.Leu2715_Asn2718delinsPhe

Select item 149085090215.

rs1490850902 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 1:214650731 (GRCh38)
1:214824074 (GRCh37)
Canonical SPDI:: NC_000001.11:214650729:TGT:T
Gene:: CENPF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.214650731_214650732del, NC_000001.10:g.214824074_214824075del, NG_046787.1:g.52553_52554del

Select item 149075002016.

rs1490750020 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:214649516 (GRCh38)
1:214822859 (GRCh37)
Canonical SPDI:: NC_000001.11:214649515:A:G
Gene:: CENPF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000054/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
G=0.000223/1 (Estonian)
HGVS:: NC_000001.11:g.214649516A>G, NC_000001.10:g.214822859A>G, NG_046787.1:g.51338A>G

Select item 149074798617.

rs1490747986 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:214616948 (GRCh38)
1:214790291 (GRCh37)
Canonical SPDI:: NC_000001.11:214616947:C:T
Gene:: CENPF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000009/1 (GnomAD)
HGVS:: NC_000001.11:g.214616948C>T, NC_000001.10:g.214790291C>T, NG_046787.1:g.18770C>T

Select item 149064577818.

rs1490645778 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:214609161 (GRCh38)
1:214782504 (GRCh37)
Canonical SPDI:: NC_000001.11:214609160:G:C
Gene:: CENPF (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000023/6 (TOPMED)
C=0.000043/6 (GnomAD)
HGVS:: NC_000001.11:g.214609161G>C, NC_000001.10:g.214782504G>C, NG_030366.2:g.143C>G, NG_046787.1:g.10983G>C

Select item 149059998919.

rs1490599989 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:214618314 (GRCh38)
1:214791657 (GRCh37)
Canonical SPDI:: NC_000001.11:214618313:G:A,NC_000001.11:214618313:G:C
Gene:: CENPF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.214618314G>A, NC_000001.11:g.214618314G>C, NC_000001.10:g.214791657G>A, NC_000001.10:g.214791657G>C, NG_046787.1:g.20136G>A, NG_046787.1:g.20136G>C

Select item 149058021220.

rs1490580212 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:214605267 (GRCh38)
1:214778610 (GRCh37)
Canonical SPDI:: NC_000001.11:214605266:A:C
Gene:: CENPF (Varview)
Functional Consequence:: 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.214605267A>C, NC_000001.10:g.214778610A>C, NG_046787.1:g.7089A>C

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