SNP Links for Gene (Select 148811) - SNP

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Select item 14915782291.

rs1491578229 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTT [Show Flanks]
Chromosome:: 1:205847007 (GRCh38)
1:205816136 (GRCh37)
Canonical SPDI:: NC_000001.11:205847007:TT:TTCTT
Gene:: PM20D1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTCTT=0.00025/3 (ALFA)
HGVS:: NC_000001.11:g.205847009_205847010insCTT, NC_000001.10:g.205816137_205816138insCTT

Select item 14915758822.

rs1491575882 has merged into rs142937075 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA [Show Flanks]
Chromosome:: 1:205819404 (GRCh38)
1:205788532 (GRCh37)
Canonical SPDI:: NC_000001.11:205819395:AAAAAAAAAA:AAAAAAAA,NC_000001.11:205819395:AAAAAAAAAA:AAAAAAAAA,NC_000001.11:205819395:AAAAAAAAAA:AAAAAAAAAAA
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
A=0.00004/1 (TOMMO)
HGVS:: NC_000001.11:g.205819404_205819405del, NC_000001.11:g.205819405del, NC_000001.11:g.205819405dup, NC_000001.10:g.205788532_205788533del, NC_000001.10:g.205788533del, NC_000001.10:g.205788533dup

Select item 14915738743.

rs1491573874 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:205835651 (GRCh38)
1:205804779 (GRCh37)
Canonical SPDI:: NC_000001.11:205835650:CA:
Gene:: PM20D1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00287/34 (ALFA)
HGVS:: NC_000001.11:g.205835651_205835652del, NC_000001.10:g.205804779_205804780del

Select item 14915496224.

rs1491549622 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 1:205820909 (GRCh38)
1:205790037 (GRCh37)
Canonical SPDI:: NC_000001.11:205820908:CT:
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000008/1 (GnomAD)
HGVS:: NC_000001.11:g.205820909_205820910del, NC_000001.10:g.205790037_205790038del

Select item 14915404345.

rs1491540434 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:205815701 (GRCh38)
1:205784830 (GRCh37)
Canonical SPDI:: NC_000001.11:205815701:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTT
HGVS:: NC_000001.11:g.205815702_205815717T[31]CTTTTTTTTTTTTTTTT[1], NC_000001.10:g.205784830_205784845T[31]CTTTTTTTTTTTTTTTT[1]

Select item 14914694176.

rs1491469417 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:205839910 (GRCh38)
1:205809038 (GRCh37)
Canonical SPDI:: NC_000001.11:205839909:CA:
Gene:: PM20D1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00008/1 (ALFA)
-=0.00074/16 (TOMMO)
HGVS:: NC_000001.11:g.205839910_205839911del, NC_000001.10:g.205809038_205809039del

Select item 14914435037.

rs1491443503 has merged into rs59126866 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,A,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:205835664 (GRCh38)
1:205804792 (GRCh37)
Canonical SPDI:: NC_000001.11:205835651:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:205835651:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:205835651:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:205835651:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:205835651:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:205835651:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:205835651:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:205835651:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:205835651:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:205835651:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:205835651:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:205835651:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:205835651:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:205835651:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:205835651:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:205835651:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:205835651:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:205835651:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:205835651:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:205835651:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:205835651:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PM20D1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
AA=0.3/12 (GENOME_DK)
HGVS:: NC_000001.11:g.205835664_205835676del, NC_000001.11:g.205835665_205835676del, NC_000001.11:g.205835667_205835676del, NC_000001.11:g.205835669_205835676del, NC_000001.11:g.205835670_205835676del, NC_000001.11:g.205835671_205835676del, NC_000001.11:g.205835672_205835676del, NC_000001.11:g.205835673_205835676del, NC_000001.11:g.205835674_205835676del, NC_000001.11:g.205835675_205835676del, NC_000001.11:g.205835676del, NC_000001.11:g.205835676dup, NC_000001.11:g.205835675_205835676dup, NC_000001.11:g.205835674_205835676dup, NC_000001.11:g.205835673_205835676dup, NC_000001.11:g.205835672_205835676dup, NC_000001.11:g.205835671_205835676dup, NC_000001.11:g.205835669_205835676dup, NC_000001.11:g.205835665_205835676dup, NC_000001.11:g.205835660_205835676dup, NC_000001.11:g.205835676_205835677insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.205804792_205804804del, NC_000001.10:g.205804793_205804804del, NC_000001.10:g.205804795_205804804del, NC_000001.10:g.205804797_205804804del, NC_000001.10:g.205804798_205804804del, NC_000001.10:g.205804799_205804804del, NC_000001.10:g.205804800_205804804del, NC_000001.10:g.205804801_205804804del, NC_000001.10:g.205804802_205804804del, NC_000001.10:g.205804803_205804804del, NC_000001.10:g.205804804del, NC_000001.10:g.205804804dup, NC_000001.10:g.205804803_205804804dup, NC_000001.10:g.205804802_205804804dup, NC_000001.10:g.205804801_205804804dup, NC_000001.10:g.205804800_205804804dup, NC_000001.10:g.205804799_205804804dup, NC_000001.10:g.205804797_205804804dup, NC_000001.10:g.205804793_205804804dup, NC_000001.10:g.205804788_205804804dup, NC_000001.10:g.205804804_205804805insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14914071408.

rs1491407140 has merged into rs200300084 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:205820917 (GRCh38)
1:205790045 (GRCh37)
Canonical SPDI:: NC_000001.11:205820909:TTTTTTTTTTTTTT:TTTTTTT,NC_000001.11:205820909:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:205820909:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:205820909:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:205820909:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:205820909:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:205820909:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.086667/52 (NorthernSweden)
-=0.175/7 (GENOME_DK)
-=0.226438/1134 (1000Genomes)
HGVS:: NC_000001.11:g.205820917_205820923del, NC_000001.11:g.205820921_205820923del, NC_000001.11:g.205820922_205820923del, NC_000001.11:g.205820923del, NC_000001.11:g.205820923dup, NC_000001.11:g.205820922_205820923dup, NC_000001.11:g.205820915_205820923dup, NC_000001.10:g.205790045_205790051del, NC_000001.10:g.205790049_205790051del, NC_000001.10:g.205790050_205790051del, NC_000001.10:g.205790051del, NC_000001.10:g.205790051dup, NC_000001.10:g.205790050_205790051dup, NC_000001.10:g.205790043_205790051dup

Select item 14913883199.

rs1491388319 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 1:205835652 (GRCh38)
1:205804781 (GRCh37)
Canonical SPDI:: NC_000001.11:205835652::C
Gene:: PM20D1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000001.11:g.205835652_205835653insC, NC_000001.10:g.205804780_205804781insC

Select item 149131024010.

rs1491310240 has merged into rs778538865 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:205847018 (GRCh38)
1:205816146 (GRCh37)
Canonical SPDI:: NC_000001.11:205847006:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:205847006:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:205847006:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:205847006:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:205847006:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:205847006:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:205847006:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:205847006:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:205847006:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:205847006:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:205847006:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:205847006:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:205847006:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:205847006:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:205847006:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:205847006:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:205847006:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:205847006:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:205847006:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:205847006:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:205847006:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:205847006:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:205847006:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:205847006:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:205847006:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:205847006:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: PM20D1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
-=0.25/9 (GENOME_DK)
HGVS:: NC_000001.11:g.205847018_205847033del, NC_000001.11:g.205847019_205847033del, NC_000001.11:g.205847020_205847033del, NC_000001.11:g.205847021_205847033del, NC_000001.11:g.205847022_205847033del, NC_000001.11:g.205847023_205847033del, NC_000001.11:g.205847024_205847033del, NC_000001.11:g.205847025_205847033del, NC_000001.11:g.205847026_205847033del, NC_000001.11:g.205847027_205847033del, NC_000001.11:g.205847028_205847033del, NC_000001.11:g.205847029_205847033del, NC_000001.11:g.205847030_205847033del, NC_000001.11:g.205847031_205847033del, NC_000001.11:g.205847032_205847033del, NC_000001.11:g.205847033del, NC_000001.11:g.205847033dup, NC_000001.11:g.205847032_205847033dup, NC_000001.11:g.205847031_205847033dup, NC_000001.11:g.205847030_205847033dup, NC_000001.11:g.205847029_205847033dup, NC_000001.11:g.205847028_205847033dup, NC_000001.11:g.205847027_205847033dup, NC_000001.11:g.205847025_205847033dup, NC_000001.11:g.205847024_205847033dup, NC_000001.11:g.205847023_205847033dup, NC_000001.10:g.205816146_205816161del, NC_000001.10:g.205816147_205816161del, NC_000001.10:g.205816148_205816161del, NC_000001.10:g.205816149_205816161del, NC_000001.10:g.205816150_205816161del, NC_000001.10:g.205816151_205816161del, NC_000001.10:g.205816152_205816161del, NC_000001.10:g.205816153_205816161del, NC_000001.10:g.205816154_205816161del, NC_000001.10:g.205816155_205816161del, NC_000001.10:g.205816156_205816161del, NC_000001.10:g.205816157_205816161del, NC_000001.10:g.205816158_205816161del, NC_000001.10:g.205816159_205816161del, NC_000001.10:g.205816160_205816161del, NC_000001.10:g.205816161del, NC_000001.10:g.205816161dup, NC_000001.10:g.205816160_205816161dup, NC_000001.10:g.205816159_205816161dup, NC_000001.10:g.205816158_205816161dup, NC_000001.10:g.205816157_205816161dup, NC_000001.10:g.205816156_205816161dup, NC_000001.10:g.205816155_205816161dup, NC_000001.10:g.205816153_205816161dup, NC_000001.10:g.205816152_205816161dup, NC_000001.10:g.205816151_205816161dup

Select item 149127734911.

rs1491277349 has merged into rs113740521 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:205815711 (GRCh38)
1:205784839 (GRCh37)
Canonical SPDI:: NC_000001.11:205815700:TTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000001.11:205815700:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:205815700:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:205815700:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:205815700:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:205815700:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:205815700:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:205815700:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:205815700:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:205815700:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:205815700:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:205815700:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.325/13 (GENOME_DK)
-=0.4026/2016 (1000Genomes)
HGVS:: NC_000001.11:g.205815711_205815717del, NC_000001.11:g.205815713_205815717del, NC_000001.11:g.205815714_205815717del, NC_000001.11:g.205815715_205815717del, NC_000001.11:g.205815716_205815717del, NC_000001.11:g.205815717del, NC_000001.11:g.205815717dup, NC_000001.11:g.205815716_205815717dup, NC_000001.11:g.205815711_205815717dup, NC_000001.11:g.205815704_205815717dup, NC_000001.11:g.205815717_205815718insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.205815717_205815718insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.205784839_205784845del, NC_000001.10:g.205784841_205784845del, NC_000001.10:g.205784842_205784845del, NC_000001.10:g.205784843_205784845del, NC_000001.10:g.205784844_205784845del, NC_000001.10:g.205784845del, NC_000001.10:g.205784845dup, NC_000001.10:g.205784844_205784845dup, NC_000001.10:g.205784839_205784845dup, NC_000001.10:g.205784832_205784845dup, NC_000001.10:g.205784845_205784846insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.205784845_205784846insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149124142712.

rs1491241427 has merged into rs201305630 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 1:205835677 (GRCh38)
1:205804805 (GRCh37)
Canonical SPDI:: NC_000001.11:205835676:GG:G
Gene:: PM20D1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0.017423/274 (ALFA)
-=0.06612/7834 (GnomAD)
-=0.076923/46 (NorthernSweden)
-=0.263645/4416 (TOMMO)
HGVS:: NC_000001.11:g.205835678del, NC_000001.10:g.205804806del

Select item 149104369513.

rs1491043695 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 1:205835676 (GRCh38)
1:205804804 (GRCh37)
Canonical SPDI:: NC_000001.11:205835675:AG:
Gene:: PM20D1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00101/12 (ALFA)
-=0.00113/19 (TOMMO)
-=0.02511/46 (Korea1K)
HGVS:: NC_000001.11:g.205835676_205835677del, NC_000001.10:g.205804804_205804805del

Select item 149081520514.

rs1490815205 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:205828174 (GRCh38)
1:205797302 (GRCh37)
Canonical SPDI:: NC_000001.11:205828173:T:C
Gene:: PM20D1 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_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.205828174T>C, NC_000001.10:g.205797302T>C, NM_152491.5:c.*446A>G, NM_152491.4:c.*446A>G, NR_135186.2:n.1953A>G, NR_135186.1:n.1969A>G

Select item 149074231115.

rs1490742311 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:205823647 (GRCh38)
1:205792775 (GRCh37)
Canonical SPDI:: NC_000001.11:205823646:A:T
HGVS:: NC_000001.11:g.205823647A>T, NC_000001.10:g.205792775A>T

Select item 149065231616.

rs1490652316 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 1:205827634 (GRCh38)
1:205796762 (GRCh37)
Canonical SPDI:: NC_000001.11:205827633:GG:G
Gene:: PM20D1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.205827635del, NC_000001.10:g.205796763del

Select item 149057087417.

rs1490570874 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:205844887 (GRCh38)
1:205814015 (GRCh37)
Canonical SPDI:: NC_000001.11:205844886:T:C
Gene:: PM20D1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_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_000001.11:g.205844887T>C, NC_000001.10:g.205814015T>C, NM_152491.5:c.500A>G, NM_152491.4:c.500A>G, NR_135186.2:n.560A>G, NR_135186.1:n.576A>G, NP_689704.4:p.Gln167Arg

Select item 149051312318.

rs1490513123 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:205817598 (GRCh38)
1:205786726 (GRCh37)
Canonical SPDI:: NC_000001.11:205817597:C:G
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.205817598C>G, NC_000001.10:g.205786726C>G

Select item 149025277919.

rs1490252779 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:205822519 (GRCh38)
1:205791647 (GRCh37)
Canonical SPDI:: NC_000001.11:205822518:C:T
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.205822519C>T, NC_000001.10:g.205791647C>T

Select item 149019395420.

rs1490193954 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:205834094 (GRCh38)
1:205803222 (GRCh37)
Canonical SPDI:: NC_000001.11:205834093:C:T
Gene:: PM20D1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000156/1 (1000Genomes)
HGVS:: NC_000001.11:g.205834094C>T, NC_000001.10:g.205803222C>T

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