SNP Links for Gene (Select 728773) - SNP

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Select item 14910772051.

rs1491077205 has merged into rs35525827 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA [Show Flanks]
Chromosome:: 2:146589870 (GRCh38)
2:147347438 (GRCh37)
Canonical SPDI:: NC_000002.12:146589858:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:146589858:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:146589858:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:146589858:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA
Gene:: PABPC1P2 (Varview), LOC124907895 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
A=0.003/11 (TWINSUK)
A=0.0031/12 (ALSPAC)
A=0.0233/14 (NorthernSweden)
A=0.0341/34 (GoNL)
A=0.05/2 (GENOME_DK)
HGVS:: NC_000002.12:g.146589870_146589872del, NC_000002.12:g.146589871_146589872del, NC_000002.12:g.146589872del, NC_000002.12:g.146589872dup, NC_000002.11:g.147347438_147347440del, NC_000002.11:g.147347439_147347440del, NC_000002.11:g.147347440del, NC_000002.11:g.147347440dup, NR_026904.1:n.2814_2816del, NR_026904.1:n.2815_2816del, NR_026904.1:n.2816del, NR_026904.1:n.2816dup

Select item 14906092522.

rs1490609252 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:146585108 (GRCh38)
2:147342676 (GRCh37)
Canonical SPDI:: NC_000002.12:146585107:T:C
Gene:: PABPC1P2 (Varview), LOC124907895 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0./0 (GnomAD)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.146585108T>C, NC_000002.11:g.147342676T>C

Select item 14902406423.

rs1490240642 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:146590707 (GRCh38)
2:147348275 (GRCh37)
Canonical SPDI:: NC_000002.12:146590706:C:G
Gene:: PABPC1P2 (Varview), LOC124907895 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.146590707C>G, NC_000002.11:g.147348275C>G, NR_026904.1:n.3651C>G

Select item 14892754574.

rs1489275457 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:146587503 (GRCh38)
2:147345071 (GRCh37)
Canonical SPDI:: NC_000002.12:146587502:G:A
Gene:: PABPC1P2 (Varview), LOC124907895 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.146587503G>A, NC_000002.11:g.147345071G>A, NR_026904.1:n.447G>A

Select item 14892231885.

rs1489223188 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CAATGATTT [Show Flanks]
Chromosome:: 2:146586618 (GRCh38)
2:147344187 (GRCh37)
Canonical SPDI:: NC_000002.12:146586618:TCAATGATTT:TCAATGATTTCAATGATTT
Gene:: PABPC1P2 (Varview), LOC124907895 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: TCAATGATTTCAATGATTT=0./0 (ALFA)
TCAATGATT=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.146586620_146586628dup, NC_000002.11:g.147344188_147344196dup

Select item 14890598336.

rs1489059833 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 2:146590249 (GRCh38)
2:147347817 (GRCh37)
Canonical SPDI:: NC_000002.12:146590248:T:A,NC_000002.12:146590248:T:C
Gene:: PABPC1P2 (Varview), LOC124907895 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000002.12:g.146590249T>A, NC_000002.12:g.146590249T>C, NC_000002.11:g.147347817T>A, NC_000002.11:g.147347817T>C, NR_026904.1:n.3193T>A, NR_026904.1:n.3193T>C

Select item 14889569927.

rs1488956992 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:146591270 (GRCh38)
2:147348838 (GRCh37)
Canonical SPDI:: NC_000002.12:146591269:T:C
Gene:: PABPC1P2 (Varview), LOC124907895 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000002.12:g.146591270T>C, NC_000002.11:g.147348838T>C, XR_007087254.1:n.229A>G

Select item 14887318078.

rs1488731807 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACCATTGCACTCCAGC>- [Show Flanks]
Chromosome:: 2:146589812 (GRCh38)
2:147347380 (GRCh37)
Canonical SPDI:: NC_000002.12:146589809:GCACCATTGCACTCCAGC:GC
Gene:: PABPC1P2 (Varview), LOC124907895 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GC=0./0 (ALFA)
-=0.000022/3 (GnomAD)
-=0.000113/30 (TOPMED)
HGVS:: NC_000002.12:g.146589812_146589827del, NC_000002.11:g.147347380_147347395del, NR_026904.1:n.2756_2771del

Select item 14886295239.

rs1488629523 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:146590711 (GRCh38)
2:147348279 (GRCh37)
Canonical SPDI:: NC_000002.12:146590710:T:A
Gene:: PABPC1P2 (Varview), LOC124907895 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
HGVS:: NC_000002.12:g.146590711T>A, NC_000002.11:g.147348279T>A, NR_026904.1:n.3655T>A

Select item 148833594910.

rs1488335949 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 2:146589747 (GRCh38)
2:147347315 (GRCh37)
Canonical SPDI:: NC_000002.12:146589746:A:C,NC_000002.12:146589746:A:G,NC_000002.12:146589746:A:T
Gene:: PABPC1P2 (Varview), LOC124907895 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.146589747A>C, NC_000002.12:g.146589747A>G, NC_000002.12:g.146589747A>T, NC_000002.11:g.147347315A>C, NC_000002.11:g.147347315A>G, NC_000002.11:g.147347315A>T, NR_026904.1:n.2691A>C, NR_026904.1:n.2691A>G, NR_026904.1:n.2691A>T

Select item 148811371111.

rs1488113711 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:146589715 (GRCh38)
2:147347283 (GRCh37)
Canonical SPDI:: NC_000002.12:146589714:C:T
Gene:: PABPC1P2 (Varview), LOC124907895 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000342/1 (KOREAN)
T=0.000389/7 (TOMMO)
T=0.001092/2 (Korea1K)
HGVS:: NC_000002.12:g.146589715C>T, NC_000002.11:g.147347283C>T, NR_026904.1:n.2659C>T

Select item 148811327912.

rs1488113279 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:146588193 (GRCh38)
2:147345761 (GRCh37)
Canonical SPDI:: NC_000002.12:146588192:A:G
Gene:: PABPC1P2 (Varview), LOC124907895 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.146588193A>G, NC_000002.11:g.147345761A>G, NR_026904.1:n.1137A>G

Select item 148762554013.

rs1487625540 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:146589486 (GRCh38)
2:147347054 (GRCh37)
Canonical SPDI:: NC_000002.12:146589485:C:A,NC_000002.12:146589485:C:T
Gene:: PABPC1P2 (Varview), LOC124907895 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000035/1 (TOMMO)
HGVS:: NC_000002.12:g.146589486C>A, NC_000002.12:g.146589486C>T, NC_000002.11:g.147347054C>A, NC_000002.11:g.147347054C>T, NR_026904.1:n.2430C>A, NR_026904.1:n.2430C>T

Select item 148709517914.

rs1487095179 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:146589378 (GRCh38)
2:147346946 (GRCh37)
Canonical SPDI:: NC_000002.12:146589377:C:T
Gene:: PABPC1P2 (Varview), LOC124907895 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.146589378C>T, NC_000002.11:g.147346946C>T, NR_026904.1:n.2322C>T

Select item 148700037515.

rs1487000375 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:146590275 (GRCh38)
2:147347843 (GRCh37)
Canonical SPDI:: NC_000002.12:146590274:T:A
Gene:: PABPC1P2 (Varview), LOC124907895 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.146590275T>A, NC_000002.11:g.147347843T>A, NR_026904.1:n.3219T>A

Select item 148566415716.

rs1485664157 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:146587136 (GRCh38)
2:147344704 (GRCh37)
Canonical SPDI:: NC_000002.12:146587135:T:G
Gene:: PABPC1P2 (Varview), LOC124907895 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.146587136T>G, NC_000002.11:g.147344704T>G, NR_026904.1:n.80T>G

Select item 148492797417.

rs1484927974 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:146586999 (GRCh38)
2:147344567 (GRCh37)
Canonical SPDI:: NC_000002.12:146586998:G:C
Gene:: PABPC1P2 (Varview), LOC124907895 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.146586999G>C, NC_000002.11:g.147344567G>C

Select item 148421823718.

rs1484218237 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:146585123 (GRCh38)
2:147342691 (GRCh37)
Canonical SPDI:: NC_000002.12:146585122:T:C
Gene:: PABPC1P2 (Varview), LOC124907895 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000066/1 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.146585123T>C, NC_000002.11:g.147342691T>C

Select item 148355701819.

rs1483557018 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:146588431 (GRCh38)
2:147345999 (GRCh37)
Canonical SPDI:: NC_000002.12:146588430:A:G
Gene:: PABPC1P2 (Varview), LOC124907895 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.146588431A>G, NC_000002.11:g.147345999A>G, NR_026904.1:n.1375A>G

Select item 148313888220.

rs1483138882 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:146587429 (GRCh38)
2:147344997 (GRCh37)
Canonical SPDI:: NC_000002.12:146587428:G:T
Gene:: PABPC1P2 (Varview), LOC124907895 (Varview)
Functional Consequence:: intron_variant,non_coding_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_000002.12:g.146587429G>T, NC_000002.11:g.147344997G>T, NR_026904.1:n.373G>T

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