SNP Links for Gene (Select 23047) - SNP

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Select item 14915834551.

rs1491583455 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 13:32751735 (GRCh38)
13:33325874 (GRCh37)
Canonical SPDI:: NC_000013.11:32751735:A:AA
Gene:: PDS5B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: A=0./0 (GnomAD)
HGVS:: NC_000013.11:g.32751736dup, NC_000013.10:g.33325874dup, NG_021308.2:g.170310dup

Select item 14915753452.

rs1491575345 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 13:32717248 (GRCh38)
13:33291385 (GRCh37)
Canonical SPDI:: NC_000013.11:32717247:AG:
Gene:: PDS5B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000084/1 (ALFA)
-=0.000093/13 (GnomAD)
HGVS:: NC_000013.11:g.32717248_32717249del, NC_000013.10:g.33291385_33291386del, NG_021308.2:g.135822_135823del

Select item 14915656943.

rs1491565694 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GT [Show Flanks]
Chromosome:: 13:32701634 (GRCh38)
13:33275772 (GRCh37)
Canonical SPDI:: NC_000013.11:32701634:T:TGT
Gene:: PDS5B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGT=0./0 (ALFA)
TG=0.000007/1 (GnomAD)
TG=0.000015/4 (TOPMED)
HGVS:: NC_000013.11:g.32701635_32701636insGT, NC_000013.10:g.33275772_33275773insGT, NG_021308.2:g.120209_120210insGT

Select item 14915446984.

rs1491544698 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 13:32741051 (GRCh38)
13:33315189 (GRCh37)
Canonical SPDI:: NC_000013.11:32741050:GT:
Gene:: PDS5B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.000254/24 (ExAC)
-=0.000771/100 (GnomAD_exomes)
HGVS:: NC_000013.11:g.32741051_32741052del, NC_000013.10:g.33315189_33315190del, NG_021308.2:g.159625_159626del

Select item 14915335705.

rs1491533570 has merged into rs781188988 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 13:32679643 (GRCh38)
13:33253780 (GRCh37)
Canonical SPDI:: NC_000013.11:32679638:AAAAAAAAAAAAAAAA:AAAA,NC_000013.11:32679638:AAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000013.11:32679638:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000013.11:32679638:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000013.11:32679638:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000013.11:32679638:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000013.11:32679638:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000013.11:32679638:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000013.11:32679638:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PDS5B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAA=0./0 (ALFA)
-=0.015/9 (NorthernSweden)
-=0.1/4 (GENOME_DK)
HGVS:: NC_000013.11:g.32679643_32679654del, NC_000013.11:g.32679650_32679654del, NC_000013.11:g.32679651_32679654del, NC_000013.11:g.32679653_32679654del, NC_000013.11:g.32679654del, NC_000013.11:g.32679654dup, NC_000013.11:g.32679653_32679654dup, NC_000013.11:g.32679652_32679654dup, NC_000013.11:g.32679647_32679654dup, NC_000013.10:g.33253780_33253791del, NC_000013.10:g.33253787_33253791del, NC_000013.10:g.33253788_33253791del, NC_000013.10:g.33253790_33253791del, NC_000013.10:g.33253791del, NC_000013.10:g.33253791dup, NC_000013.10:g.33253790_33253791dup, NC_000013.10:g.33253789_33253791dup, NC_000013.10:g.33253784_33253791dup, NG_021308.2:g.98217_98228del, NG_021308.2:g.98224_98228del, NG_021308.2:g.98225_98228del, NG_021308.2:g.98227_98228del, NG_021308.2:g.98228del, NG_021308.2:g.98228dup, NG_021308.2:g.98227_98228dup, NG_021308.2:g.98226_98228dup, NG_021308.2:g.98221_98228dup

Select item 14915155456.

rs1491515545 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTATATATATATAT [Show Flanks]
Chromosome:: 13:32655360 (GRCh38)
13:33229498 (GRCh37)
Canonical SPDI:: NC_000013.11:32655360:TATATATATATAT:TATATATATATATGTATATATATATAT
Gene:: PDS5B (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATATGTATATATATATAT=0.00953/113 (ALFA)
TATATATATATATG=0.00116/15 (TOMMO)
TATATATATATATG=0.00774/10 (Korea1K)
TATATATATATATG=0.02098/484 (GnomAD)
HGVS:: NC_000013.11:g.32655361_32655373TA[6]TGTATATATATATAT[1], NC_000013.10:g.33229498_33229510TA[6]TGTATATATATATAT[1], NG_021308.2:g.73935_73947TA[6]TGTATATATATATAT[1]

Select item 14915139697.

rs1491513969 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 13:32598771 (GRCh38)
13:33172909 (GRCh37)
Canonical SPDI:: NC_000013.11:32598771::C
Gene:: PDS5B (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.00008/1 (ALFA)
HGVS:: NC_000013.11:g.32598771_32598772insC, NC_000013.10:g.33172908_33172909insC, NG_021308.2:g.17345_17346insC

Select item 14915112738.

rs1491511273 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 13:32598765 (GRCh38)
13:33172903 (GRCh37)
Canonical SPDI:: NC_000013.11:32598765:C:CC
Gene:: PDS5B (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
C=0.00004/5 (GnomAD)
HGVS:: NC_000013.11:g.32598766dup, NC_000013.10:g.33172903dup, NG_021308.2:g.17340dup

Select item 14914994999.

rs1491499499 has merged into rs71194532 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAA>-,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA [Show Flanks]
Chromosome:: 13:32641066 (GRCh38)
13:33215203 (GRCh37)
Canonical SPDI:: NC_000013.11:32641056:AAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000013.11:32641056:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000013.11:32641056:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000013.11:32641056:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000013.11:32641056:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000013.11:32641056:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000013.11:32641056:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000013.11:32641056:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000013.11:32641056:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
Gene:: PDS5B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.420927/2108 (1000Genomes)
HGVS:: NC_000013.11:g.32641066_32641075del, NC_000013.11:g.32641071_32641075del, NC_000013.11:g.32641072_32641075del, NC_000013.11:g.32641073_32641075del, NC_000013.11:g.32641074_32641075del, NC_000013.11:g.32641075del, NC_000013.11:g.32641075dup, NC_000013.11:g.32641074_32641075dup, NC_000013.11:g.32641073_32641075dup, NC_000013.10:g.33215203_33215212del, NC_000013.10:g.33215208_33215212del, NC_000013.10:g.33215209_33215212del, NC_000013.10:g.33215210_33215212del, NC_000013.10:g.33215211_33215212del, NC_000013.10:g.33215212del, NC_000013.10:g.33215212dup, NC_000013.10:g.33215211_33215212dup, NC_000013.10:g.33215210_33215212dup, NG_021308.2:g.59640_59649del, NG_021308.2:g.59645_59649del, NG_021308.2:g.59646_59649del, NG_021308.2:g.59647_59649del, NG_021308.2:g.59648_59649del, NG_021308.2:g.59649del, NG_021308.2:g.59649dup, NG_021308.2:g.59648_59649dup, NG_021308.2:g.59647_59649dup

Select item 149146542710.

rs1491465427 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 13:32676932 (GRCh38)
13:33251069 (GRCh37)
Canonical SPDI:: NC_000013.11:32676931:CA:
Gene:: PDS5B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00118/14 (ALFA)
HGVS:: NC_000013.11:g.32676932_32676933del, NC_000013.10:g.33251069_33251070del, NG_021308.2:g.95506_95507del

Select item 149144758511.

rs1491447585 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 13:32751735 (GRCh38)
13:33325873 (GRCh37)
Canonical SPDI:: NC_000013.11:32751734:TA:
Gene:: PDS5B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.32751735_32751736del, NC_000013.10:g.33325873_33325874del, NG_021308.2:g.170309_170310del

Select item 149144569712.

rs1491445697 has merged into rs1177251327 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATATAT>-,AT,ATAT,ATATATAT,ATATATATAT,ATATATATATAT,ATATATATATATAT,ATATATATATATATAT,ATATATATATATATATAT,ATATATATATATATATATAT,ATATATATATATATATATATAT,ATATATATATATATATATATATAT,ATATATATATATATATATATATATAT,ATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATAT [Show Flanks]
Chromosome:: 13:32655370 (GRCh38)
13:33229507 (GRCh37)
Canonical SPDI:: NC_000013.11:32655359:ATATATATATATATAT:ATATATATAT,NC_000013.11:32655359:ATATATATATATATAT:ATATATATATAT,NC_000013.11:32655359:ATATATATATATATAT:ATATATATATATAT,NC_000013.11:32655359:ATATATATATATATAT:ATATATATATATATATAT,NC_000013.11:32655359:ATATATATATATATAT:ATATATATATATATATATAT,NC_000013.11:32655359:ATATATATATATATAT:ATATATATATATATATATATAT,NC_000013.11:32655359:ATATATATATATATAT:ATATATATATATATATATATATAT,NC_000013.11:32655359:ATATATATATATATAT:ATATATATATATATATATATATATAT,NC_000013.11:32655359:ATATATATATATATAT:ATATATATATATATATATATATATATAT,NC_000013.11:32655359:ATATATATATATATAT:ATATATATATATATATATATATATATATAT,NC_000013.11:32655359:ATATATATATATATAT:ATATATATATATATATATATATATATATATAT,NC_000013.11:32655359:ATATATATATATATAT:ATATATATATATATATATATATATATATATATAT,NC_000013.11:32655359:ATATATATATATATAT:ATATATATATATATATATATATATATATATATATAT,NC_000013.11:32655359:ATATATATATATATAT:ATATATATATATATATATATATATATATATATATATAT,NC_000013.11:32655359:ATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATAT,NC_000013.11:32655359:ATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATAT,NC_000013.11:32655359:ATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATAT,NC_000013.11:32655359:ATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATAT,NC_000013.11:32655359:ATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000013.11:32655359:ATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000013.11:32655359:ATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000013.11:32655359:ATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATATAT
Gene:: PDS5B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATAT=0./0 (ALFA)
HGVS:: NC_000013.11:g.32655360AT[5], NC_000013.11:g.32655360AT[6], NC_000013.11:g.32655360AT[7], NC_000013.11:g.32655360AT[9], NC_000013.11:g.32655360AT[10], NC_000013.11:g.32655360AT[11], NC_000013.11:g.32655360AT[12], NC_000013.11:g.32655360AT[13], NC_000013.11:g.32655360AT[14], NC_000013.11:g.32655360AT[15], NC_000013.11:g.32655360AT[16], NC_000013.11:g.32655360AT[17], NC_000013.11:g.32655360AT[18], NC_000013.11:g.32655360AT[19], NC_000013.11:g.32655360AT[20], NC_000013.11:g.32655360AT[21], NC_000013.11:g.32655360AT[22], NC_000013.11:g.32655360AT[23], NC_000013.11:g.32655360AT[24], NC_000013.11:g.32655360AT[25], NC_000013.11:g.32655360AT[27], NC_000013.11:g.32655360AT[28], NC_000013.10:g.33229497AT[5], NC_000013.10:g.33229497AT[6], NC_000013.10:g.33229497AT[7], NC_000013.10:g.33229497AT[9], NC_000013.10:g.33229497AT[10], NC_000013.10:g.33229497AT[11], NC_000013.10:g.33229497AT[12], NC_000013.10:g.33229497AT[13], NC_000013.10:g.33229497AT[14], NC_000013.10:g.33229497AT[15], NC_000013.10:g.33229497AT[16], NC_000013.10:g.33229497AT[17], NC_000013.10:g.33229497AT[18], NC_000013.10:g.33229497AT[19], NC_000013.10:g.33229497AT[20], NC_000013.10:g.33229497AT[21], NC_000013.10:g.33229497AT[22], NC_000013.10:g.33229497AT[23], NC_000013.10:g.33229497AT[24], NC_000013.10:g.33229497AT[25], NC_000013.10:g.33229497AT[27], NC_000013.10:g.33229497AT[28], NG_021308.2:g.73934AT[5], NG_021308.2:g.73934AT[6], NG_021308.2:g.73934AT[7], NG_021308.2:g.73934AT[9], NG_021308.2:g.73934AT[10], NG_021308.2:g.73934AT[11], NG_021308.2:g.73934AT[12], NG_021308.2:g.73934AT[13], NG_021308.2:g.73934AT[14], NG_021308.2:g.73934AT[15], NG_021308.2:g.73934AT[16], NG_021308.2:g.73934AT[17], NG_021308.2:g.73934AT[18], NG_021308.2:g.73934AT[19], NG_021308.2:g.73934AT[20], NG_021308.2:g.73934AT[21], NG_021308.2:g.73934AT[22], NG_021308.2:g.73934AT[23], NG_021308.2:g.73934AT[24], NG_021308.2:g.73934AT[25], NG_021308.2:g.73934AT[27], NG_021308.2:g.73934AT[28]

Select item 149143150513.

rs1491431505 has merged into rs112309957 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTTTTTT,TTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 13:32770112 (GRCh38)
13:33344250 (GRCh37)
Canonical SPDI:: NC_000013.11:32770103:TTTTTTTTTT:TTTTTTTT,NC_000013.11:32770103:TTTTTTTTTT:TTTTTTTTT,NC_000013.11:32770103:TTTTTTTTTT:TTTTTTTTTTT,NC_000013.11:32770103:TTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000013.11:32770103:TTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT
Gene:: PDS5B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0.00372/73 (ALFA)
-=0.143013/262 (Korea1K)
-=0.289516/1447 (1000Genomes)
-=0.378462/100175 (TOPMED)
-=0.413333/248 (NorthernSweden)
-=0.431722/77571 (GnomAD_exomes)
-=0.443905/1646 (TWINSUK)
T=0.45/18 (GENOME_DK)
-=0.451479/1740 (ALSPAC)
-=0.482589/2162 (Estonian)
-=0.486974/486 (GoNL)
HGVS:: NC_000013.11:g.32770112_32770113del, NC_000013.11:g.32770113del, NC_000013.11:g.32770113dup, NC_000013.11:g.32770108_32770113dup, NC_000013.11:g.32770113_32770114insTTTTTTTTTTTT, NC_000013.10:g.33344250_33344251del, NC_000013.10:g.33344251del, NC_000013.10:g.33344251dup, NC_000013.10:g.33344246_33344251dup, NC_000013.10:g.33344251_33344252insTTTTTTTTTTTT, NG_021308.2:g.188686_188687del, NG_021308.2:g.188687del, NG_021308.2:g.188687dup, NG_021308.2:g.188682_188687dup, NG_021308.2:g.188687_188688insTTTTTTTTTTTT

Select item 149142563614.

rs1491425636 has merged into rs113519972 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT [Show Flanks]
Chromosome:: 13:32674933 (GRCh38)
13:33249070 (GRCh37)
Canonical SPDI:: NC_000013.11:32674921:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000013.11:32674921:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000013.11:32674921:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000013.11:32674921:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT
Gene:: PDS5B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000013.11:g.32674933_32674934del, NC_000013.11:g.32674934del, NC_000013.11:g.32674934dup, NC_000013.11:g.32674933_32674934dup, NC_000013.10:g.33249070_33249071del, NC_000013.10:g.33249071del, NC_000013.10:g.33249071dup, NC_000013.10:g.33249070_33249071dup, NG_021308.2:g.93507_93508del, NG_021308.2:g.93508del, NG_021308.2:g.93508dup, NG_021308.2:g.93507_93508dup

Select item 149140999715.

rs1491409997 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 13:32641056 (GRCh38)
13:33215193 (GRCh37)
Canonical SPDI:: NC_000013.11:32641055:CA:
Gene:: PDS5B (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000013.11:g.32641056_32641057del, NC_000013.10:g.33215193_33215194del, NG_021308.2:g.59630_59631del

Select item 149139149116.

rs1491391491 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TAAA [Show Flanks]
Chromosome:: 13:32679639 (GRCh38)
13:33253777 (GRCh37)
Canonical SPDI:: NC_000013.11:32679639:AAA:AAATAAA
Gene:: PDS5B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AAATAAA=0.00017/2 (ALFA)
HGVS:: NC_000013.11:g.32679642_32679643insTAAA, NC_000013.10:g.33253779_33253780insTAAA, NG_021308.2:g.98216_98217insTAAA

Select item 149139129217.

rs1491391292 has merged into rs71071057 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 13:32656284 (GRCh38)
13:33230421 (GRCh37)
Canonical SPDI:: NC_000013.11:32656273:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000013.11:32656273:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000013.11:32656273:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000013.11:32656273:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000013.11:32656273:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000013.11:32656273:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000013.11:32656273:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000013.11:32656273:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000013.11:32656273:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000013.11:32656273:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000013.11:32656273:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000013.11:32656273:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:32656273:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:32656273:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:32656273:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:32656273:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:32656273:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:32656273:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:32656273:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:32656273:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:32656273:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:32656273:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:32656273:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:32656273:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:32656273:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:32656273:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:32656273:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:32656273:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:32656273:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: PDS5B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000013.11:g.32656284_32656292del, NC_000013.11:g.32656285_32656292del, NC_000013.11:g.32656286_32656292del, NC_000013.11:g.32656287_32656292del, NC_000013.11:g.32656288_32656292del, NC_000013.11:g.32656289_32656292del, NC_000013.11:g.32656290_32656292del, NC_000013.11:g.32656291_32656292del, NC_000013.11:g.32656292del, NC_000013.11:g.32656292dup, NC_000013.11:g.32656291_32656292dup, NC_000013.11:g.32656290_32656292dup, NC_000013.11:g.32656289_32656292dup, NC_000013.11:g.32656288_32656292dup, NC_000013.11:g.32656287_32656292dup, NC_000013.11:g.32656286_32656292dup, NC_000013.11:g.32656285_32656292dup, NC_000013.11:g.32656284_32656292dup, NC_000013.11:g.32656283_32656292dup, NC_000013.11:g.32656282_32656292dup, NC_000013.11:g.32656281_32656292dup, NC_000013.11:g.32656280_32656292dup, NC_000013.11:g.32656276_32656292dup, NC_000013.11:g.32656275_32656292dup, NC_000013.11:g.32656274_32656292dup, NC_000013.11:g.32656292_32656293insTTTTTTTTTTTTTTTTTTTTT, NC_000013.11:g.32656292_32656293insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.11:g.32656292_32656293insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.11:g.32656292_32656293insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.33230421_33230429del, NC_000013.10:g.33230422_33230429del, NC_000013.10:g.33230423_33230429del, NC_000013.10:g.33230424_33230429del, NC_000013.10:g.33230425_33230429del, NC_000013.10:g.33230426_33230429del, NC_000013.10:g.33230427_33230429del, NC_000013.10:g.33230428_33230429del, NC_000013.10:g.33230429del, NC_000013.10:g.33230429dup, NC_000013.10:g.33230428_33230429dup, NC_000013.10:g.33230427_33230429dup, NC_000013.10:g.33230426_33230429dup, NC_000013.10:g.33230425_33230429dup, NC_000013.10:g.33230424_33230429dup, NC_000013.10:g.33230423_33230429dup, NC_000013.10:g.33230422_33230429dup, NC_000013.10:g.33230421_33230429dup, NC_000013.10:g.33230420_33230429dup, NC_000013.10:g.33230419_33230429dup, NC_000013.10:g.33230418_33230429dup, NC_000013.10:g.33230417_33230429dup, NC_000013.10:g.33230413_33230429dup, NC_000013.10:g.33230412_33230429dup, NC_000013.10:g.33230411_33230429dup, NC_000013.10:g.33230429_33230430insTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.33230429_33230430insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.33230429_33230430insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.33230429_33230430insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_021308.2:g.74858_74866del, NG_021308.2:g.74859_74866del, NG_021308.2:g.74860_74866del, NG_021308.2:g.74861_74866del, NG_021308.2:g.74862_74866del, NG_021308.2:g.74863_74866del, NG_021308.2:g.74864_74866del, NG_021308.2:g.74865_74866del, NG_021308.2:g.74866del, NG_021308.2:g.74866dup, NG_021308.2:g.74865_74866dup, NG_021308.2:g.74864_74866dup, NG_021308.2:g.74863_74866dup, NG_021308.2:g.74862_74866dup, NG_021308.2:g.74861_74866dup, NG_021308.2:g.74860_74866dup, NG_021308.2:g.74859_74866dup, NG_021308.2:g.74858_74866dup, NG_021308.2:g.74857_74866dup, NG_021308.2:g.74856_74866dup, NG_021308.2:g.74855_74866dup, NG_021308.2:g.74854_74866dup, NG_021308.2:g.74850_74866dup, NG_021308.2:g.74849_74866dup, NG_021308.2:g.74848_74866dup, NG_021308.2:g.74866_74867insTTTTTTTTTTTTTTTTTTTTT, NG_021308.2:g.74866_74867insTTTTTTTTTTTTTTTTTTTTTTTTT, NG_021308.2:g.74866_74867insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_021308.2:g.74866_74867insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149138028418.

rs1491380284 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 13:32646370 (GRCh38)
13:33220508 (GRCh37)
Canonical SPDI:: NC_000013.11:32646370::G
Gene:: PDS5B (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.00202/24 (ALFA)
G=0.03345/75 (GnomAD)
HGVS:: NC_000013.11:g.32646370_32646371insG, NC_000013.10:g.33220507_33220508insG, NG_021308.2:g.64944_64945insG

Select item 149136437519.

rs1491364375 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CGTGTGTGTG [Show Flanks]
Chromosome:: 13:32741702 (GRCh38)
13:33315841 (GRCh37)
Canonical SPDI:: NC_000013.11:32741702:GTGTGTGTG:GTGTGTGTGCGTGTGTGTG
Gene:: PDS5B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGCGTGTGTGTG=0./0 (ALFA)
GTGTGTGTGC=0.00034/6 (GnomAD)
HGVS:: NC_000013.11:g.32741703_32741711GT[4]GCGTGTGTGTG[1], NC_000013.10:g.33315841_33315849GT[4]GCGTGTGTGTG[1], NG_021308.2:g.160277_160285GT[4]GCGTGTGTGTG[1]

Select item 149135949020.

rs1491359490 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 13:32746504 (GRCh38)
13:33320643 (GRCh37)
Canonical SPDI:: NC_000013.11:32746504:A:AA
Gene:: PDS5B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0.000198/3 (ALFA)
A=0.000021/3 (GnomAD)
A=0.00067/3 (Estonian)
HGVS:: NC_000013.11:g.32746505dup, NC_000013.10:g.33320643dup, NG_021308.2:g.165079dup

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