SNP Links for Gene (Select 80227) - SNP

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Select item 14915125061.

rs1491512506 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 11:73896252 (GRCh38)
11:73607298 (GRCh37)
Canonical SPDI:: NC_000011.10:73896252:T:TT
Gene:: PAAF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
T=0.000033/4 (GnomAD)
HGVS:: NC_000011.10:g.73896253dup, NC_000011.9:g.73607298dup

Select item 14914252802.

rs1491425280 has merged into rs564348245 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 11:73893747 (GRCh38)
11:73604792 (GRCh37)
Canonical SPDI:: NC_000011.10:73893738:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000011.10:73893738:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000011.10:73893738:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000011.10:73893738:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000011.10:73893738:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000011.10:73893738:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000011.10:73893738:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:73893738:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:73893738:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:73893738:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000011.10:73893738:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000011.10:73893738:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000011.10:73893738:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000011.10:73893738:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000011.10:73893738:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:73893738:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:73893738:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:73893738:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:73893738:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:73893738:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:73893738:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:73893738:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:73893738:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:73893738:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:73893738:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:73893738:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:73893738:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PAAF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
-=0.1129/435 (ALSPAC)
-=0.2001/1002 (1000Genomes)
HGVS:: NC_000011.10:g.73893747_73893761del, NC_000011.10:g.73893748_73893761del, NC_000011.10:g.73893749_73893761del, NC_000011.10:g.73893750_73893761del, NC_000011.10:g.73893751_73893761del, NC_000011.10:g.73893752_73893761del, NC_000011.10:g.73893753_73893761del, NC_000011.10:g.73893754_73893761del, NC_000011.10:g.73893755_73893761del, NC_000011.10:g.73893756_73893761del, NC_000011.10:g.73893757_73893761del, NC_000011.10:g.73893758_73893761del, NC_000011.10:g.73893759_73893761del, NC_000011.10:g.73893760_73893761del, NC_000011.10:g.73893761del, NC_000011.10:g.73893761dup, NC_000011.10:g.73893760_73893761dup, NC_000011.10:g.73893759_73893761dup, NC_000011.10:g.73893758_73893761dup, NC_000011.10:g.73893757_73893761dup, NC_000011.10:g.73893756_73893761dup, NC_000011.10:g.73893755_73893761dup, NC_000011.10:g.73893754_73893761dup, NC_000011.10:g.73893750_73893761dup, NC_000011.10:g.73893745_73893761dup, NC_000011.10:g.73893744_73893761dup, NC_000011.10:g.73893743_73893761dup, NC_000011.9:g.73604792_73604806del, NC_000011.9:g.73604793_73604806del, NC_000011.9:g.73604794_73604806del, NC_000011.9:g.73604795_73604806del, NC_000011.9:g.73604796_73604806del, NC_000011.9:g.73604797_73604806del, NC_000011.9:g.73604798_73604806del, NC_000011.9:g.73604799_73604806del, NC_000011.9:g.73604800_73604806del, NC_000011.9:g.73604801_73604806del, NC_000011.9:g.73604802_73604806del, NC_000011.9:g.73604803_73604806del, NC_000011.9:g.73604804_73604806del, NC_000011.9:g.73604805_73604806del, NC_000011.9:g.73604806del, NC_000011.9:g.73604806dup, NC_000011.9:g.73604805_73604806dup, NC_000011.9:g.73604804_73604806dup, NC_000011.9:g.73604803_73604806dup, NC_000011.9:g.73604802_73604806dup, NC_000011.9:g.73604801_73604806dup, NC_000011.9:g.73604800_73604806dup, NC_000011.9:g.73604799_73604806dup, NC_000011.9:g.73604795_73604806dup, NC_000011.9:g.73604790_73604806dup, NC_000011.9:g.73604789_73604806dup, NC_000011.9:g.73604788_73604806dup

Select item 14914125063.

rs1491412506 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 11:73901871 (GRCh38)
11:73612917 (GRCh37)
Canonical SPDI:: NC_000011.10:73901871::C
Gene:: PAAF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00002/2 (GnomAD)
C=0.00007/2 (TOMMO)
C=0.00055/1 (Korea1K)
HGVS:: NC_000011.10:g.73901871_73901872insC, NC_000011.9:g.73612916_73612917insC

Select item 14913855004.

rs1491385500 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 11:73893738 (GRCh38)
11:73604783 (GRCh37)
Canonical SPDI:: NC_000011.10:73893737:CA:
Gene:: PAAF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00809/96 (ALFA)
-=0.00221/60 (TOMMO)
HGVS:: NC_000011.10:g.73893738_73893739del, NC_000011.9:g.73604783_73604784del

Select item 14913609445.

rs1491360944 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 11:73882312 (GRCh38)
11:73593358 (GRCh37)
Canonical SPDI:: NC_000011.10:73882312::A
Gene:: PAAF1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000013/1 (GnomAD)
HGVS:: NC_000011.10:g.73882312_73882313insA, NC_000011.9:g.73593357_73593358insA

Select item 14913456856.

rs1491345685 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 11:73876141 (GRCh38)
11:73587187 (GRCh37)
Canonical SPDI:: NC_000011.10:73876141::T
Gene:: COA4 (Varview), PAAF1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.00008/1 (ALFA)
HGVS:: NC_000011.10:g.73876141_73876142insT, NC_000011.9:g.73587186_73587187insT

Select item 14912597167.

rs1491259716 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 11:73924648 (GRCh38)
11:73635693 (GRCh37)
Canonical SPDI:: NC_000011.10:73924647:TA:
Gene:: PAAF1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,stop_gained
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
-=0.000008/1 (ExAC)
HGVS:: NC_000011.10:g.73924648_73924649del, NC_000011.9:g.73635693_73635694del, NM_025155.3:c.1052_1053del, NM_025155.2:c.1052_1053del, NM_001363556.2:c.1055_1056del, NM_001363556.1:c.1055_1056del, NM_001267803.2:c.1001_1002del, NM_001267803.1:c.1001_1002del, NM_001267804.2:c.1001_1002del, NM_001267804.1:c.1001_1002del, NM_001267805.2:c.1001_1002del, NM_001267805.1:c.1001_1002del, NM_001267806.2:c.707_708del, NM_001267806.1:c.707_708del, XR_007062508.1:n.1183_1184del, NP_079431.1:p.Asp350_Leu351insTer, NP_001350485.1:p.Asp351_Leu352insTer, NP_001254732.1:p.Asp333_Leu334insTer, NP_001254733.1:p.Asp333_Leu334insTer, NP_001254734.1:p.Asp333_Leu334insTer, NP_001254735.1:p.Asp235_Leu236insTer

Select item 14912369348.

rs1491236934 has merged into rs34242715 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 11:73882321 (GRCh38)
11:73593366 (GRCh37)
Canonical SPDI:: NC_000011.10:73882311:TTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000011.10:73882311:TTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000011.10:73882311:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000011.10:73882311:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000011.10:73882311:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000011.10:73882311:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000011.10:73882311:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000011.10:73882311:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000011.10:73882311:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000011.10:73882311:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000011.10:73882311:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000011.10:73882311:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:73882311:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:73882311:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: PAAF1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.08666/434 (1000Genomes)
HGVS:: NC_000011.10:g.73882321_73882329del, NC_000011.10:g.73882322_73882329del, NC_000011.10:g.73882323_73882329del, NC_000011.10:g.73882325_73882329del, NC_000011.10:g.73882326_73882329del, NC_000011.10:g.73882327_73882329del, NC_000011.10:g.73882328_73882329del, NC_000011.10:g.73882329del, NC_000011.10:g.73882329dup, NC_000011.10:g.73882328_73882329dup, NC_000011.10:g.73882327_73882329dup, NC_000011.10:g.73882312_73882329T[21]GTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000011.10:g.73882326_73882329dup, NC_000011.10:g.73882316_73882329dup, NC_000011.9:g.73593366_73593374del, NC_000011.9:g.73593367_73593374del, NC_000011.9:g.73593368_73593374del, NC_000011.9:g.73593370_73593374del, NC_000011.9:g.73593371_73593374del, NC_000011.9:g.73593372_73593374del, NC_000011.9:g.73593373_73593374del, NC_000011.9:g.73593374del, NC_000011.9:g.73593374dup, NC_000011.9:g.73593373_73593374dup, NC_000011.9:g.73593372_73593374dup, NC_000011.9:g.73593357_73593374T[21]GTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000011.9:g.73593371_73593374dup, NC_000011.9:g.73593361_73593374dup

Select item 14911920019.

rs1491192001 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 11:73886672 (GRCh38)
11:73597717 (GRCh37)
Canonical SPDI:: NC_000011.10:73886671:CA:
Gene:: PAAF1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000011.10:g.73886672_73886673del, NC_000011.9:g.73597717_73597718del

Select item 149119036410.

rs1491190364 [Homo sapiens]

Variant type:: DEL
Alleles:: GC>- [Show Flanks]
Chromosome:: 11:73875666 (GRCh38)
11:73586711 (GRCh37)
Canonical SPDI:: NC_000011.10:73875665:GC:
Gene:: COA4 (Varview), PAAF1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.0002/1 (ALFA)
HGVS:: NC_000011.10:g.73875666_73875667del, NC_000011.9:g.73586711_73586712del

Select item 149116992911.

rs1491169929 has merged into rs55697916 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 11:73886679 (GRCh38)
11:73597724 (GRCh37)
Canonical SPDI:: NC_000011.10:73886672:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAA,NC_000011.10:73886672:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000011.10:73886672:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000011.10:73886672:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000011.10:73886672:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000011.10:73886672:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000011.10:73886672:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:73886672:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:73886672:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:73886672:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000011.10:73886672:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000011.10:73886672:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000011.10:73886672:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000011.10:73886672:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000011.10:73886672:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:73886672:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:73886672:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:73886672:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:73886672:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:73886672:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:73886672:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:73886672:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:73886672:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:73886672:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:73886672:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:73886672:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:73886672:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:73886672:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PAAF1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.025/1 (GENOME_DK)
HGVS:: NC_000011.10:g.73886679_73886698del, NC_000011.10:g.73886682_73886698del, NC_000011.10:g.73886683_73886698del, NC_000011.10:g.73886684_73886698del, NC_000011.10:g.73886685_73886698del, NC_000011.10:g.73886686_73886698del, NC_000011.10:g.73886687_73886698del, NC_000011.10:g.73886688_73886698del, NC_000011.10:g.73886689_73886698del, NC_000011.10:g.73886690_73886698del, NC_000011.10:g.73886691_73886698del, NC_000011.10:g.73886692_73886698del, NC_000011.10:g.73886693_73886698del, NC_000011.10:g.73886694_73886698del, NC_000011.10:g.73886695_73886698del, NC_000011.10:g.73886696_73886698del, NC_000011.10:g.73886697_73886698del, NC_000011.10:g.73886698del, NC_000011.10:g.73886698dup, NC_000011.10:g.73886697_73886698dup, NC_000011.10:g.73886696_73886698dup, NC_000011.10:g.73886695_73886698dup, NC_000011.10:g.73886694_73886698dup, NC_000011.10:g.73886693_73886698dup, NC_000011.10:g.73886692_73886698dup, NC_000011.10:g.73886691_73886698dup, NC_000011.10:g.73886690_73886698dup, NC_000011.10:g.73886689_73886698dup, NC_000011.9:g.73597724_73597743del, NC_000011.9:g.73597727_73597743del, NC_000011.9:g.73597728_73597743del, NC_000011.9:g.73597729_73597743del, NC_000011.9:g.73597730_73597743del, NC_000011.9:g.73597731_73597743del, NC_000011.9:g.73597732_73597743del, NC_000011.9:g.73597733_73597743del, NC_000011.9:g.73597734_73597743del, NC_000011.9:g.73597735_73597743del, NC_000011.9:g.73597736_73597743del, NC_000011.9:g.73597737_73597743del, NC_000011.9:g.73597738_73597743del, NC_000011.9:g.73597739_73597743del, NC_000011.9:g.73597740_73597743del, NC_000011.9:g.73597741_73597743del, NC_000011.9:g.73597742_73597743del, NC_000011.9:g.73597743del, NC_000011.9:g.73597743dup, NC_000011.9:g.73597742_73597743dup, NC_000011.9:g.73597741_73597743dup, NC_000011.9:g.73597740_73597743dup, NC_000011.9:g.73597739_73597743dup, NC_000011.9:g.73597738_73597743dup, NC_000011.9:g.73597737_73597743dup, NC_000011.9:g.73597736_73597743dup, NC_000011.9:g.73597735_73597743dup, NC_000011.9:g.73597734_73597743dup

Select item 149109996012.

rs1491099960 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 11:73876142 (GRCh38)
11:73587187 (GRCh37)
Canonical SPDI:: NC_000011.10:73876140:AGA:A
Gene:: COA4 (Varview), PAAF1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.09729/1154 (ALFA)
-=0.00018/5 (TOMMO)
HGVS:: NC_000011.10:g.73876142_73876143del, NC_000011.9:g.73587187_73587188del

Select item 149101834813.

rs1491018348 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 11:73922836 (GRCh38)
11:73633881 (GRCh37)
Canonical SPDI:: NC_000011.10:73922834:AGA:A
Gene:: PAAF1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000146/20 (GnomAD)
HGVS:: NC_000011.10:g.73922836_73922837del, NC_000011.9:g.73633881_73633882del

Select item 149100882014.

rs1491008820 has merged into rs535428239 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTATATATGTGTATATATGT>-,GTATATATGT,GTATATATGTGTATATATGTGTATATATGT,GTATATATGTGTATATATGTGTATATATGTGTATATATGT [Show Flanks]
Chromosome:: 11:73908267 (GRCh38)
11:73619312 (GRCh37)
Canonical SPDI:: NC_000011.10:73908255:TGTATATATGTGTATATATGTGTATATATGT:TGTATATATGT,NC_000011.10:73908255:TGTATATATGTGTATATATGTGTATATATGT:TGTATATATGTGTATATATGT,NC_000011.10:73908255:TGTATATATGTGTATATATGTGTATATATGT:TGTATATATGTGTATATATGTGTATATATGTGTATATATGT,NC_000011.10:73908255:TGTATATATGTGTATATATGTGTATATATGT:TGTATATATGTGTATATATGTGTATATATGTGTATATATGTGTATATATGT
Gene:: PAAF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTATATATGTGTATATATGT=0./0 (ALFA)
-=0.00085/14 (TOMMO)
HGVS:: NC_000011.10:g.73908257GTATATATGT[1], NC_000011.10:g.73908257GTATATATGT[2], NC_000011.10:g.73908257GTATATATGT[4], NC_000011.10:g.73908257GTATATATGT[5], NC_000011.9:g.73619302GTATATATGT[1], NC_000011.9:g.73619302GTATATATGT[2], NC_000011.9:g.73619302GTATATATGT[4], NC_000011.9:g.73619302GTATATATGT[5]

Select item 149100638015.

rs1491006380 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 11:73914724 (GRCh38)
11:73625769 (GRCh37)
Canonical SPDI:: NC_000011.10:73914721:AGAG:AG
Gene:: PAAF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AGAG=0./0 (ALFA)
-=0.000017/2 (GnomAD)
HGVS:: NC_000011.10:g.73914722AG[1], NC_000011.9:g.73625767AG[1]

Select item 149098786516.

rs1490987865 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:73876343 (GRCh38)
11:73587388 (GRCh37)
Canonical SPDI:: NC_000011.10:73876342:T:C
Gene:: COA4 (Varview), PAAF1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.73876343T>C, NC_000011.9:g.73587388T>C

Select item 149097199617.

rs1490971996 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 11:73908300 (GRCh38)
11:73619345 (GRCh37)
Canonical SPDI:: NC_000011.10:73908299:T:C,NC_000011.10:73908299:T:G
Gene:: PAAF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000011.10:g.73908300T>C, NC_000011.10:g.73908300T>G, NC_000011.9:g.73619345T>C, NC_000011.9:g.73619345T>G

Select item 149092097718.

rs1490920977 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:73910681 (GRCh38)
11:73621726 (GRCh37)
Canonical SPDI:: NC_000011.10:73910680:A:G
Gene:: PAAF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.00013/2 (ALFA)
G=0.00022/1 (Estonian)
HGVS:: NC_000011.10:g.73910681A>G, NC_000011.9:g.73621726A>G

Select item 149089359519.

rs1490893595 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:73913210 (GRCh38)
11:73624255 (GRCh37)
Canonical SPDI:: NC_000011.10:73913209:A:G
Gene:: PAAF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.73913210A>G, NC_000011.9:g.73624255A>G

Select item 149086631020.

rs1490866310 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:73917267 (GRCh38)
11:73628312 (GRCh37)
Canonical SPDI:: NC_000011.10:73917266:C:A
Gene:: PAAF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000026/7 (TOPMED)
HGVS:: NC_000011.10:g.73917267C>A, NC_000011.9:g.73628312C>A

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