SNP Links for Gene (Select 100233209) - SNP

Links from Gene

Items: 1 to 20 of 2424

<< First< Prev

Page of 122

Next >Last >>

Select item 14915730551.

rs1491573055 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 12:47217467 (GRCh38)
12:47611251 (GRCh37)
Canonical SPDI:: NC_000012.12:47217467::G
Gene:: PCED1B (Varview), PCED1B-AS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0./0 (Korea1K)
G=0.00005/3 (GnomAD)
HGVS:: NC_000012.12:g.47217467_47217468insG, NC_000012.11:g.47611250_47611251insG

Select item 14915126732.

rs1491512673 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 12:47212074 (GRCh38)
12:47605857 (GRCh37)
Canonical SPDI:: NC_000012.12:47212073:CA:
Gene:: PCED1B (Varview), PCED1B-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00051/6 (ALFA)
-=0.00173/48 (TOMMO)
HGVS:: NC_000012.12:g.47212074_47212075del, NC_000012.11:g.47605857_47605858del

Select item 14915065173.

rs1491506517 has merged into rs369250575 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAAA,AAAAAA [Show Flanks]
Chromosome:: 12:47217474 (GRCh38)
12:47611257 (GRCh37)
Canonical SPDI:: NC_000012.12:47217472:AAA:A,NC_000012.12:47217472:AAA:AA,NC_000012.12:47217472:AAA:AAAAA,NC_000012.12:47217472:AAA:AAAAAAA
Gene:: PCED1B (Varview), PCED1B-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.00142/21 (TOMMO)
-=0.00256/4 (Korea1K)
-=0.01761/10 (NorthernSweden)
HGVS:: NC_000012.12:g.47217474_47217475del, NC_000012.12:g.47217475del, NC_000012.12:g.47217474_47217475dup, NC_000012.12:g.47217475_47217476insAAAA, NC_000012.11:g.47611257_47611258del, NC_000012.11:g.47611258del, NC_000012.11:g.47611257_47611258dup, NC_000012.11:g.47611258_47611259insAAAA

Select item 14914561094.

rs1491456109 has merged into rs149469887 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA,AAAAAA,AAAAGAAAGAAAAA,AAAAGAAGAAAGAAAAA [Show Flanks]
Chromosome:: 12:47217482 (GRCh38)
12:47611265 (GRCh37)
Canonical SPDI:: NC_000012.12:47217480:AAA:A,NC_000012.12:47217480:AAA:AA,NC_000012.12:47217480:AAA:AAAA,NC_000012.12:47217480:AAA:AAAAA,NC_000012.12:47217480:AAA:AAAAAAA,NC_000012.12:47217480:AAA:AAAAAGAAAGAAAAA,NC_000012.12:47217480:AAA:AAAAAGAAGAAAGAAAAA
Gene:: PCED1B (Varview), PCED1B-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
AAAA=0.07732/298 (ALSPAC)
AAAA=0.07794/289 (TWINSUK)
HGVS:: NC_000012.12:g.47217482_47217483del, NC_000012.12:g.47217483del, NC_000012.12:g.47217483dup, NC_000012.12:g.47217482_47217483dup, NC_000012.12:g.47217483_47217484insAAAA, NC_000012.12:g.47217481_47217483A[5]GAAA[2]AA[1], NC_000012.12:g.47217481_47217483A[5]GAA[2]AGAAAAA[1], NC_000012.11:g.47611265_47611266del, NC_000012.11:g.47611266del, NC_000012.11:g.47611266dup, NC_000012.11:g.47611265_47611266dup, NC_000012.11:g.47611266_47611267insAAAA, NC_000012.11:g.47611264_47611266A[5]GAAA[2]AA[1], NC_000012.11:g.47611264_47611266A[5]GAA[2]AGAAAAA[1]

Select item 14914157635.

rs1491415763 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAA>-,GAAGAA [Show Flanks]
Chromosome:: 12:47217476 (GRCh38)
12:47611259 (GRCh37)
Canonical SPDI:: NC_000012.12:47217473:AAGAA:AA,NC_000012.12:47217473:AAGAA:AAGAAGAA
Gene:: PCED1B (Varview), PCED1B-AS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAGAAGAA=0./0 (ALFA)
HGVS:: NC_000012.12:g.47217476_47217478del, NC_000012.12:g.47217476_47217478dup, NC_000012.11:g.47611259_47611261del, NC_000012.11:g.47611259_47611261dup

Select item 14913809606.

rs1491380960 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AAGAA [Show Flanks]
Chromosome:: 12:47217493 (GRCh38)
12:47611277 (GRCh37)
Canonical SPDI:: NC_000012.12:47217493:AA:AAAAGAA
Gene:: PCED1B (Varview), PCED1B-AS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AAAAGAA=0./0 (ALFA)
HGVS:: NC_000012.12:g.47217494_47217495A[4]GAA[1], NC_000012.11:g.47611277_47611278A[4]GAA[1]

Select item 14913359747.

rs1491335974 has merged into rs973095849 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA,AAAAAA,AATAAA [Show Flanks]
Chromosome:: 12:47217494 (GRCh38)
12:47611277 (GRCh37)
Canonical SPDI:: NC_000012.12:47217492:AAA:A,NC_000012.12:47217492:AAA:AA,NC_000012.12:47217492:AAA:AAAA,NC_000012.12:47217492:AAA:AAAAA,NC_000012.12:47217492:AAA:AAAAAAA,NC_000012.12:47217492:AAA:AAATAAA
Gene:: PCED1B (Varview), PCED1B-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00031/2 (1000Genomes)
AAAT=0.07577/292 (ALSPAC)
TAAA=0.07578/281 (TWINSUK)
HGVS:: NC_000012.12:g.47217494_47217495del, NC_000012.12:g.47217495del, NC_000012.12:g.47217495dup, NC_000012.12:g.47217494_47217495dup, NC_000012.12:g.47217495_47217496insAAAA, NC_000012.12:g.47217495_47217496insTAAA, NC_000012.11:g.47611277_47611278del, NC_000012.11:g.47611278del, NC_000012.11:g.47611278dup, NC_000012.11:g.47611277_47611278dup, NC_000012.11:g.47611278_47611279insAAAA, NC_000012.11:g.47611278_47611279insTAAA

Select item 14913297248.

rs1491329724 has merged into rs781602752 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>-,GACAGA,GAGA [Show Flanks]
Chromosome:: 12:47217484 (GRCh38)
12:47611267 (GRCh37)
Canonical SPDI:: NC_000012.12:47217482:AGA:A,NC_000012.12:47217482:AGA:AGACAGA,NC_000012.12:47217482:AGA:AGAGA
Gene:: PCED1B (Varview), PCED1B-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGA=0./0 (ALFA)
HGVS:: NC_000012.12:g.47217484_47217485del, NC_000012.12:g.47217485_47217486insCAGA, NC_000012.12:g.47217484_47217485dup, NC_000012.11:g.47611267_47611268del, NC_000012.11:g.47611268_47611269insCAGA, NC_000012.11:g.47611267_47611268dup

Select item 14913178049.

rs1491317804 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AAGAA,AAGAAAGAAAGAA [Show Flanks]
Chromosome:: 12:47217481 (GRCh38)
12:47611265 (GRCh37)
Canonical SPDI:: NC_000012.12:47217481:AA:AAAAGAA,NC_000012.12:47217481:AA:AAAAGAAAGAAAGAA
Gene:: PCED1B (Varview), PCED1B-AS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAGAA=0.00008/1 (ALFA)
AAAAG=0.01053/176 (TOMMO)
AAAAG=0.01484/27 (Korea1K)
HGVS:: NC_000012.12:g.47217482_47217483A[4]GAA[1], NC_000012.12:g.47217482_47217483A[4]GAAA[2]GAA[1], NC_000012.11:g.47611265_47611266A[4]GAA[1], NC_000012.11:g.47611265_47611266A[4]GAAA[2]GAA[1]

Select item 149126166710.

rs1491261667 has merged into rs765967984 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA,AAAAAA,AAAAGAAGAAAAA,AATAAA [Show Flanks]
Chromosome:: 12:47217478 (GRCh38)
12:47611261 (GRCh37)
Canonical SPDI:: NC_000012.12:47217476:AAA:A,NC_000012.12:47217476:AAA:AA,NC_000012.12:47217476:AAA:AAAA,NC_000012.12:47217476:AAA:AAAAA,NC_000012.12:47217476:AAA:AAAAAAA,NC_000012.12:47217476:AAA:AAAAAGAAGAAAAA,NC_000012.12:47217476:AAA:AAATAAA
Gene:: PCED1B (Varview), PCED1B-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.00766/14 (Korea1K)
-=0.02151/12 (NorthernSweden)
HGVS:: NC_000012.12:g.47217478_47217479del, NC_000012.12:g.47217479del, NC_000012.12:g.47217479dup, NC_000012.12:g.47217478_47217479dup, NC_000012.12:g.47217479_47217480insAAAA, NC_000012.12:g.47217477_47217479A[5]GAA[2]AAA[1], NC_000012.12:g.47217479_47217480insTAAA, NC_000012.11:g.47611261_47611262del, NC_000012.11:g.47611262del, NC_000012.11:g.47611262dup, NC_000012.11:g.47611261_47611262dup, NC_000012.11:g.47611262_47611263insAAAA, NC_000012.11:g.47611260_47611262A[5]GAA[2]AAA[1], NC_000012.11:g.47611262_47611263insTAAA

Select item 149114895011.

rs1491148950 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 12:47211653 (GRCh38)
12:47605436 (GRCh37)
Canonical SPDI:: NC_000012.12:47211652:CA:
Gene:: PCED1B (Varview), PCED1B-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00025/3 (ALFA)
HGVS:: NC_000012.12:g.47211653_47211654del, NC_000012.11:g.47605436_47605437del

Select item 149112502612.

rs1491125026 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AAGAA,AAGAAGAAAGCAA [Show Flanks]
Chromosome:: 12:47217477 (GRCh38)
12:47611261 (GRCh37)
Canonical SPDI:: NC_000012.12:47217477:AA:AAAAGAA,NC_000012.12:47217477:AA:AAAAGAAGAAAGCAA
Gene:: PCED1B (Varview), PCED1B-AS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: AAAAG=0.04008/670 (TOMMO)
AAAAG=0.06175/113 (Korea1K)
HGVS:: NC_000012.12:g.47217478_47217479A[4]GAA[1], NC_000012.12:g.47217478_47217479A[4]GAA[2]AGCAA[1], NC_000012.11:g.47611261_47611262A[4]GAA[1], NC_000012.11:g.47611261_47611262A[4]GAA[2]AGCAA[1]

Select item 149112409713.

rs1491124097 has merged into rs1385548530 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAAA,AAAAA [Show Flanks]
Chromosome:: 12:47217468 (GRCh38)
12:47611251 (GRCh37)
Canonical SPDI:: NC_000012.12:47217466:AAA:A,NC_000012.12:47217466:AAA:AA,NC_000012.12:47217466:AAA:AAAAA,NC_000012.12:47217466:AAA:AAAAAA
Gene:: PCED1B (Varview), PCED1B-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.0034/2 (NorthernSweden)
-=0.0039/63 (TOMMO)
HGVS:: NC_000012.12:g.47217468_47217469del, NC_000012.12:g.47217469del, NC_000012.12:g.47217468_47217469dup, NC_000012.12:g.47217467_47217469dup, NC_000012.11:g.47611251_47611252del, NC_000012.11:g.47611252del, NC_000012.11:g.47611251_47611252dup, NC_000012.11:g.47611250_47611252dup

Select item 149110816714.

rs1491108167 has merged into rs34413650 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAA>-,AA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA [Show Flanks]
Chromosome:: 12:47212085 (GRCh38)
12:47605868 (GRCh37)
Canonical SPDI:: NC_000012.12:47212074:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000012.12:47212074:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:47212074:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:47212074:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:47212074:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000012.12:47212074:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000012.12:47212074:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000012.12:47212074:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000012.12:47212074:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:47212074:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
Gene:: PCED1B (Varview), PCED1B-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.000034/9 (TOPMED)
-=0.427516/2141 (1000Genomes)
HGVS:: NC_000012.12:g.47212085_47212094del, NC_000012.12:g.47212087_47212094del, NC_000012.12:g.47212090_47212094del, NC_000012.12:g.47212091_47212094del, NC_000012.12:g.47212092_47212094del, NC_000012.12:g.47212093_47212094del, NC_000012.12:g.47212094del, NC_000012.12:g.47212094dup, NC_000012.12:g.47212093_47212094dup, NC_000012.12:g.47212092_47212094dup, NC_000012.11:g.47605868_47605877del, NC_000012.11:g.47605870_47605877del, NC_000012.11:g.47605873_47605877del, NC_000012.11:g.47605874_47605877del, NC_000012.11:g.47605875_47605877del, NC_000012.11:g.47605876_47605877del, NC_000012.11:g.47605877del, NC_000012.11:g.47605877dup, NC_000012.11:g.47605876_47605877dup, NC_000012.11:g.47605875_47605877dup

Select item 149105011515.

rs1491050115 has merged into rs1281438751 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGA>-,GA [Show Flanks]
Chromosome:: 12:47217531 (GRCh38)
12:47611314 (GRCh37)
Canonical SPDI:: NC_000012.12:47217527:AGAGAGA:AGA,NC_000012.12:47217527:AGAGAGA:AGAGA
Gene:: PCED1B (Varview), PCED1B-AS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGA=0./0 (ALFA)
HGVS:: NC_000012.12:g.47217529GA[1], NC_000012.12:g.47217529GA[2], NC_000012.11:g.47611312GA[1], NC_000012.11:g.47611312GA[2]

Select item 149103623416.

rs1491036234 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>-,GAGA [Show Flanks]
Chromosome:: 12:47217504 (GRCh38)
12:47611287 (GRCh37)
Canonical SPDI:: NC_000012.12:47217502:AGA:A,NC_000012.12:47217502:AGA:AGAGA
Gene:: PCED1B (Varview), PCED1B-AS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGA=0./0 (ALFA)
-=0.000016/2 (GnomAD)
-=0.000037/1 (TOMMO)
HGVS:: NC_000012.12:g.47217504_47217505del, NC_000012.12:g.47217504_47217505dup, NC_000012.11:g.47611287_47611288del, NC_000012.11:g.47611287_47611288dup

Select item 149070442817.

rs1490704428 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:47211422 (GRCh38)
12:47605205 (GRCh37)
Canonical SPDI:: NC_000012.12:47211421:C:T
Gene:: PCED1B (Varview), PCED1B-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.47211422C>T, NC_000012.11:g.47605205C>T

Select item 149025217918.

rs1490252179 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:47210910 (GRCh38)
12:47604693 (GRCh37)
Canonical SPDI:: NC_000012.12:47210909:A:G
Gene:: PCED1B (Varview), PCED1B-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000071/1 (TOMMO)
HGVS:: NC_000012.12:g.47210910A>G, NC_000012.11:g.47604693A>G

Select item 149001915119.

rs1490019151 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:47212293 (GRCh38)
12:47606076 (GRCh37)
Canonical SPDI:: NC_000012.12:47212292:G:A
Gene:: PCED1B (Varview), PCED1B-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.0002/1 (ALFA)
A=0.0002/1 (Estonian)
HGVS:: NC_000012.12:g.47212293G>A, NC_000012.11:g.47606076G>A

Select item 148999684620.

rs1489996846 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:47210026 (GRCh38)
12:47603809 (GRCh37)
Canonical SPDI:: NC_000012.12:47210025:C:G
Gene:: PCED1B (Varview), PCED1B-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000012.12:g.47210026C>G, NC_000012.11:g.47603809C>G, NR_026544.1:n.896G>C

<< First< Prev

Page of 122

Next >Last >>

dbSNP

Result Filters

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 2424

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity