SNP Links for Gene (Select 65018) - SNP

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Select item 14915629041.

rs1491562904 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GAGT [Show Flanks]
Chromosome:: 1:20651848 (GRCh38)
1:20978342 (GRCh37)
Canonical SPDI:: NC_000001.11:20651848:GAGT:GAGTGAGT
Gene:: DDOST (Varview), PINK1 (Varview), PINK1-AS (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: GAGTGAGT=0./0 (ALFA)
GAGT=0.000008/1 (GnomAD)
HGVS:: NC_000001.11:g.20651849_20651852dup, NC_000001.10:g.20978342_20978345dup, NG_008164.1:g.23395_23398dup, NG_032064.1:g.14693_14696dup, NM_005216.5:c.*527_*530dup, NM_005216.4:c.*527_*530dup, NR_046507.1:n.342_345dup

Select item 14914793722.

rs1491479372 has merged into rs397797427 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>-,CACA [Show Flanks]
Chromosome:: 1:20638651 (GRCh38)
1:20965144 (GRCh37)
Canonical SPDI:: NC_000001.11:20638649:ACA:A,NC_000001.11:20638649:ACA:ACACA
Gene:: PINK1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.001096/13 (ALFA)
-=0.000599/3 (1000Genomes)
-=0.000729/81 (GnomAD)
-=0.002937/49 (TOMMO)
-=0.010371/19 (Korea1K)
HGVS:: NC_000001.11:g.20638651_20638652del, NC_000001.11:g.20638651_20638652dup, NC_000001.10:g.20965144_20965145del, NC_000001.10:g.20965144_20965145dup, NG_008164.1:g.10197_10198del, NG_008164.1:g.10197_10198dup

Select item 14914596003.

rs1491459600 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 1:20651850 (GRCh38)
1:20978343 (GRCh37)
Canonical SPDI:: NC_000001.11:20651847:AGAG:AG
Gene:: DDOST (Varview), PINK1 (Varview), PINK1-AS (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: AGAG=0./0 (ALFA)
-=0.000009/1 (GnomAD)
HGVS:: NC_000001.11:g.20651848AG[1], NC_000001.10:g.20978341AG[1], NG_008164.1:g.23394AG[1], NG_032064.1:g.14694CT[1], NM_005216.5:c.*528CT[1], NM_005216.4:c.*528CT[1], NR_046507.1:n.343CT[1]

Select item 14913702344.

rs1491370234 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:20649764 (GRCh38)
1:20976257 (GRCh37)
Canonical SPDI:: NC_000001.11:20649763:CA:
Gene:: PINK1 (Varview), PINK1-AS (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00152/18 (ALFA)
-=0.00064/18 (TOMMO)
HGVS:: NC_000001.11:g.20649764_20649765del, NC_000001.10:g.20976257_20976258del, NG_008164.1:g.21310_21311del, NR_046507.1:n.2429_2430del

Select item 14912507015.

rs1491250701 [Homo sapiens]

Variant type:: INS
Alleles:: ->AT [Show Flanks]
Chromosome:: 1:20638650 (GRCh38)
1:20965144 (GRCh37)
Canonical SPDI:: NC_000001.11:20638650::AT
Gene:: PINK1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AT=0./0 (ALFA)
AT=0.00003/8 (TOPMED)
AT=0.000106/2 (TOMMO)
HGVS:: NC_000001.11:g.20638650_20638651insAT, NC_000001.10:g.20965143_20965144insAT, NG_008164.1:g.10196_10197insAT

Select item 14912499506.

rs1491249950 has merged into rs1311048863 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,TTTT [Show Flanks]
Chromosome:: 1:20651442 (GRCh38)
1:20977935 (GRCh37)
Canonical SPDI:: NC_000001.11:20651440:TTT:T,NC_000001.11:20651440:TTT:TTTTT
Gene:: DDOST (Varview), PINK1 (Varview), PINK1-AS (Varview)
Functional Consequence:: 3_prime_UTR_variant,500B_downstream_variant,non_coding_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTT=0./0 (ALFA)
HGVS:: NC_000001.11:g.20651442_20651443del, NC_000001.11:g.20651442_20651443dup, NC_000001.10:g.20977935_20977936del, NC_000001.10:g.20977935_20977936dup, NG_008164.1:g.22988_22989del, NG_008164.1:g.22988_22989dup, NM_032409.3:c.*751_*752del, NM_032409.3:c.*751_*752dup, NM_032409.2:c.*751_*752del, NM_032409.2:c.*751_*752dup, NG_032064.1:g.15103_15104del, NG_032064.1:g.15103_15104dup, NR_046507.1:n.752_753del, NR_046507.1:n.752_753dup

Select item 14911513967.

rs1491151396 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 1:20643977 (GRCh38)
1:20970470 (GRCh37)
Canonical SPDI:: NC_000001.11:20643976:CT:
Gene:: PINK1 (Varview), PINK1-AS (Varview)
Functional Consequence:: intron_variant
Validated:: by cluster
HGVS:: NC_000001.11:g.20643977_20643978del, NC_000001.10:g.20970470_20970471del, NG_008164.1:g.15523_15524del

Select item 14910830858.

rs1491083085 has merged into rs71585775 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:20647065 (GRCh38)
1:20973558 (GRCh37)
Canonical SPDI:: NC_000001.11:20647053:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:20647053:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:20647053:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:20647053:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:20647053:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:20647053:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:20647053:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:20647053:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:20647053:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:20647053:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:20647053:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:20647053:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:20647053:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:20647053:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:20647053:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:20647053:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:20647053:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:20647053:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:20647053:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:20647053:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:20647053:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:20647053:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:20647053:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:20647053:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:20647053:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:20647053:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:20647053:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: PINK1 (Varview), PINK1-AS (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
-=0.0399/200 (1000Genomes)
HGVS:: NC_000001.11:g.20647065_20647074del, NC_000001.11:g.20647066_20647074del, NC_000001.11:g.20647067_20647074del, NC_000001.11:g.20647068_20647074del, NC_000001.11:g.20647069_20647074del, NC_000001.11:g.20647070_20647074del, NC_000001.11:g.20647071_20647074del, NC_000001.11:g.20647072_20647074del, NC_000001.11:g.20647073_20647074del, NC_000001.11:g.20647074del, NC_000001.11:g.20647074dup, NC_000001.11:g.20647073_20647074dup, NC_000001.11:g.20647072_20647074dup, NC_000001.11:g.20647071_20647074dup, NC_000001.11:g.20647070_20647074dup, NC_000001.11:g.20647069_20647074dup, NC_000001.11:g.20647068_20647074dup, NC_000001.11:g.20647067_20647074dup, NC_000001.11:g.20647066_20647074dup, NC_000001.11:g.20647065_20647074dup, NC_000001.11:g.20647064_20647074dup, NC_000001.11:g.20647063_20647074dup, NC_000001.11:g.20647062_20647074dup, NC_000001.11:g.20647061_20647074dup, NC_000001.11:g.20647058_20647074dup, NC_000001.11:g.20647057_20647074dup, NC_000001.11:g.20647056_20647074dup, NC_000001.10:g.20973558_20973567del, NC_000001.10:g.20973559_20973567del, NC_000001.10:g.20973560_20973567del, NC_000001.10:g.20973561_20973567del, NC_000001.10:g.20973562_20973567del, NC_000001.10:g.20973563_20973567del, NC_000001.10:g.20973564_20973567del, NC_000001.10:g.20973565_20973567del, NC_000001.10:g.20973566_20973567del, NC_000001.10:g.20973567del, NC_000001.10:g.20973567dup, NC_000001.10:g.20973566_20973567dup, NC_000001.10:g.20973565_20973567dup, NC_000001.10:g.20973564_20973567dup, NC_000001.10:g.20973563_20973567dup, NC_000001.10:g.20973562_20973567dup, NC_000001.10:g.20973561_20973567dup, NC_000001.10:g.20973560_20973567dup, NC_000001.10:g.20973559_20973567dup, NC_000001.10:g.20973558_20973567dup, NC_000001.10:g.20973557_20973567dup, NC_000001.10:g.20973556_20973567dup, NC_000001.10:g.20973555_20973567dup, NC_000001.10:g.20973554_20973567dup, NC_000001.10:g.20973551_20973567dup, NC_000001.10:g.20973550_20973567dup, NC_000001.10:g.20973549_20973567dup, NG_008164.1:g.18611_18620del, NG_008164.1:g.18612_18620del, NG_008164.1:g.18613_18620del, NG_008164.1:g.18614_18620del, NG_008164.1:g.18615_18620del, NG_008164.1:g.18616_18620del, NG_008164.1:g.18617_18620del, NG_008164.1:g.18618_18620del, NG_008164.1:g.18619_18620del, NG_008164.1:g.18620del, NG_008164.1:g.18620dup, NG_008164.1:g.18619_18620dup, NG_008164.1:g.18618_18620dup, NG_008164.1:g.18617_18620dup, NG_008164.1:g.18616_18620dup, NG_008164.1:g.18615_18620dup, NG_008164.1:g.18614_18620dup, NG_008164.1:g.18613_18620dup, NG_008164.1:g.18612_18620dup, NG_008164.1:g.18611_18620dup, NG_008164.1:g.18610_18620dup, NG_008164.1:g.18609_18620dup, NG_008164.1:g.18608_18620dup, NG_008164.1:g.18607_18620dup, NG_008164.1:g.18604_18620dup, NG_008164.1:g.18603_18620dup, NG_008164.1:g.18602_18620dup

Select item 14910705149.

rs1491070514 has merged into rs979981130 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT [Show Flanks]
Chromosome:: 1:20645885 (GRCh38)
1:20972378 (GRCh37)
Canonical SPDI:: NC_000001.11:20645884:TTTTTTTTT:TTTTTTTT,NC_000001.11:20645884:TTTTTTTTT:TTTTTTTTTT
Gene:: PINK1 (Varview), PINK1-AS (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0.000054/1 (ALFA)
-=0.000038/10 (TOPMED)
-=0.000223/1 (Estonian)
HGVS:: NC_000001.11:g.20645893del, NC_000001.11:g.20645893dup, NC_000001.10:g.20972386del, NC_000001.10:g.20972386dup, NG_008164.1:g.17439del, NG_008164.1:g.17439dup

Select item 149104517310.

rs1491045173 has merged into rs34054663 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:20647475 (GRCh38)
1:20973968 (GRCh37)
Canonical SPDI:: NC_000001.11:20647466:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000001.11:20647466:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000001.11:20647466:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:20647466:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:20647466:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:20647466:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:20647466:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:20647466:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:20647466:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:20647466:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:20647466:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:20647466:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:20647466:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:20647466:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:20647466:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:20647466:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:20647466:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:20647466:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:20647466:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:20647466:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:20647466:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:20647466:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:20647466:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:20647466:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: PINK1 (Varview), PINK1-AS (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
-=0.0693/257 (TWINSUK)
-=0.0758/292 (ALSPAC)
HGVS:: NC_000001.11:g.20647475_20647488del, NC_000001.11:g.20647477_20647488del, NC_000001.11:g.20647478_20647488del, NC_000001.11:g.20647479_20647488del, NC_000001.11:g.20647480_20647488del, NC_000001.11:g.20647481_20647488del, NC_000001.11:g.20647482_20647488del, NC_000001.11:g.20647483_20647488del, NC_000001.11:g.20647484_20647488del, NC_000001.11:g.20647485_20647488del, NC_000001.11:g.20647486_20647488del, NC_000001.11:g.20647487_20647488del, NC_000001.11:g.20647488del, NC_000001.11:g.20647488dup, NC_000001.11:g.20647487_20647488dup, NC_000001.11:g.20647486_20647488dup, NC_000001.11:g.20647485_20647488dup, NC_000001.11:g.20647484_20647488dup, NC_000001.11:g.20647483_20647488dup, NC_000001.11:g.20647482_20647488dup, NC_000001.11:g.20647481_20647488dup, NC_000001.11:g.20647480_20647488dup, NC_000001.11:g.20647479_20647488dup, NC_000001.11:g.20647476_20647488dup, NC_000001.10:g.20973968_20973981del, NC_000001.10:g.20973970_20973981del, NC_000001.10:g.20973971_20973981del, NC_000001.10:g.20973972_20973981del, NC_000001.10:g.20973973_20973981del, NC_000001.10:g.20973974_20973981del, NC_000001.10:g.20973975_20973981del, NC_000001.10:g.20973976_20973981del, NC_000001.10:g.20973977_20973981del, NC_000001.10:g.20973978_20973981del, NC_000001.10:g.20973979_20973981del, NC_000001.10:g.20973980_20973981del, NC_000001.10:g.20973981del, NC_000001.10:g.20973981dup, NC_000001.10:g.20973980_20973981dup, NC_000001.10:g.20973979_20973981dup, NC_000001.10:g.20973978_20973981dup, NC_000001.10:g.20973977_20973981dup, NC_000001.10:g.20973976_20973981dup, NC_000001.10:g.20973975_20973981dup, NC_000001.10:g.20973974_20973981dup, NC_000001.10:g.20973973_20973981dup, NC_000001.10:g.20973972_20973981dup, NC_000001.10:g.20973969_20973981dup, NG_008164.1:g.19021_19034del, NG_008164.1:g.19023_19034del, NG_008164.1:g.19024_19034del, NG_008164.1:g.19025_19034del, NG_008164.1:g.19026_19034del, NG_008164.1:g.19027_19034del, NG_008164.1:g.19028_19034del, NG_008164.1:g.19029_19034del, NG_008164.1:g.19030_19034del, NG_008164.1:g.19031_19034del, NG_008164.1:g.19032_19034del, NG_008164.1:g.19033_19034del, NG_008164.1:g.19034del, NG_008164.1:g.19034dup, NG_008164.1:g.19033_19034dup, NG_008164.1:g.19032_19034dup, NG_008164.1:g.19031_19034dup, NG_008164.1:g.19030_19034dup, NG_008164.1:g.19029_19034dup, NG_008164.1:g.19028_19034dup, NG_008164.1:g.19027_19034dup, NG_008164.1:g.19026_19034dup, NG_008164.1:g.19025_19034dup, NG_008164.1:g.19022_19034dup

Select item 149071520311.

rs1490715203 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCT>- [Show Flanks]
Chromosome:: 1:20648377 (GRCh38)
1:20974870 (GRCh37)
Canonical SPDI:: NC_000001.11:20648373:CCTCCT:CCT
Gene:: PINK1 (Varview), PINK1-AS (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCTCCT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.20648374CCT[1], NC_000001.10:g.20974867CCT[1], NG_008164.1:g.19920CCT[1], NR_046507.1:n.3815AGG[1]

Select item 149068923012.

rs1490689230 has merged into rs34054663 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:20647475 (GRCh38)
1:20973968 (GRCh37)
Canonical SPDI:: NC_000001.11:20647466:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000001.11:20647466:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000001.11:20647466:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:20647466:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:20647466:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:20647466:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:20647466:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:20647466:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:20647466:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:20647466:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:20647466:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:20647466:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:20647466:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:20647466:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:20647466:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:20647466:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:20647466:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:20647466:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:20647466:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:20647466:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:20647466:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:20647466:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:20647466:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:20647466:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: PINK1 (Varview), PINK1-AS (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
-=0.0693/257 (TWINSUK)
-=0.0758/292 (ALSPAC)
HGVS:: NC_000001.11:g.20647475_20647488del, NC_000001.11:g.20647477_20647488del, NC_000001.11:g.20647478_20647488del, NC_000001.11:g.20647479_20647488del, NC_000001.11:g.20647480_20647488del, NC_000001.11:g.20647481_20647488del, NC_000001.11:g.20647482_20647488del, NC_000001.11:g.20647483_20647488del, NC_000001.11:g.20647484_20647488del, NC_000001.11:g.20647485_20647488del, NC_000001.11:g.20647486_20647488del, NC_000001.11:g.20647487_20647488del, NC_000001.11:g.20647488del, NC_000001.11:g.20647488dup, NC_000001.11:g.20647487_20647488dup, NC_000001.11:g.20647486_20647488dup, NC_000001.11:g.20647485_20647488dup, NC_000001.11:g.20647484_20647488dup, NC_000001.11:g.20647483_20647488dup, NC_000001.11:g.20647482_20647488dup, NC_000001.11:g.20647481_20647488dup, NC_000001.11:g.20647480_20647488dup, NC_000001.11:g.20647479_20647488dup, NC_000001.11:g.20647476_20647488dup, NC_000001.10:g.20973968_20973981del, NC_000001.10:g.20973970_20973981del, NC_000001.10:g.20973971_20973981del, NC_000001.10:g.20973972_20973981del, NC_000001.10:g.20973973_20973981del, NC_000001.10:g.20973974_20973981del, NC_000001.10:g.20973975_20973981del, NC_000001.10:g.20973976_20973981del, NC_000001.10:g.20973977_20973981del, NC_000001.10:g.20973978_20973981del, NC_000001.10:g.20973979_20973981del, NC_000001.10:g.20973980_20973981del, NC_000001.10:g.20973981del, NC_000001.10:g.20973981dup, NC_000001.10:g.20973980_20973981dup, NC_000001.10:g.20973979_20973981dup, NC_000001.10:g.20973978_20973981dup, NC_000001.10:g.20973977_20973981dup, NC_000001.10:g.20973976_20973981dup, NC_000001.10:g.20973975_20973981dup, NC_000001.10:g.20973974_20973981dup, NC_000001.10:g.20973973_20973981dup, NC_000001.10:g.20973972_20973981dup, NC_000001.10:g.20973969_20973981dup, NG_008164.1:g.19021_19034del, NG_008164.1:g.19023_19034del, NG_008164.1:g.19024_19034del, NG_008164.1:g.19025_19034del, NG_008164.1:g.19026_19034del, NG_008164.1:g.19027_19034del, NG_008164.1:g.19028_19034del, NG_008164.1:g.19029_19034del, NG_008164.1:g.19030_19034del, NG_008164.1:g.19031_19034del, NG_008164.1:g.19032_19034del, NG_008164.1:g.19033_19034del, NG_008164.1:g.19034del, NG_008164.1:g.19034dup, NG_008164.1:g.19033_19034dup, NG_008164.1:g.19032_19034dup, NG_008164.1:g.19031_19034dup, NG_008164.1:g.19030_19034dup, NG_008164.1:g.19029_19034dup, NG_008164.1:g.19028_19034dup, NG_008164.1:g.19027_19034dup, NG_008164.1:g.19026_19034dup, NG_008164.1:g.19025_19034dup, NG_008164.1:g.19022_19034dup

Select item 149068709513.

rs1490687095 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:20633525 (GRCh38)
1:20960018 (GRCh37)
Canonical SPDI:: NC_000001.11:20633524:G:A
Gene:: PINK1 (Varview), MIR6084 (Varview)
Functional Consequence:: upstream_transcript_variant,5_prime_UTR_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.20633525G>A, NC_000001.10:g.20960018G>A, NG_008164.1:g.5071G>A, NM_032409.3:c.-24G>A, NM_032409.2:c.-24G>A

Select item 149062631314.

rs1490626313 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:20649772 (GRCh38)
1:20976265 (GRCh37)
Canonical SPDI:: NC_000001.11:20649771:A:C
Gene:: PINK1 (Varview), PINK1-AS (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000029/4 (GnomAD)
HGVS:: NC_000001.11:g.20649772A>C, NC_000001.10:g.20976265A>C, NG_008164.1:g.21318A>C, NG_032064.1:g.16773T>G, NR_046507.1:n.2422T>G

Select item 149052504615.

rs1490525046 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:20647844 (GRCh38)
1:20974337 (GRCh37)
Canonical SPDI:: NC_000001.11:20647842:ACA:A
Gene:: PINK1 (Varview), PINK1-AS (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.20647844_20647845del, NC_000001.10:g.20974337_20974338del, NG_008164.1:g.19390_19391del

Select item 149049065616.

rs1490490656 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:20640685 (GRCh38)
1:20967178 (GRCh37)
Canonical SPDI:: NC_000001.11:20640684:C:A
Gene:: PINK1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.20640685C>A, NC_000001.10:g.20967178C>A, NG_008164.1:g.12231C>A

Select item 149032621517.

rs1490326215 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:20641160 (GRCh38)
1:20967653 (GRCh37)
Canonical SPDI:: NC_000001.11:20641159:G:A
Gene:: PINK1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.20641160G>A, NC_000001.10:g.20967653G>A, NG_008164.1:g.12706G>A

Select item 149029530018.

rs1490295300 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:20642132 (GRCh38)
1:20968625 (GRCh37)
Canonical SPDI:: NC_000001.11:20642131:T:C
Gene:: PINK1 (Varview)
Functional Consequence:: intron_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.20642132T>C, NC_000001.10:g.20968625T>C, NG_008164.1:g.13678T>C

Select item 149025008219.

rs1490250082 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:20634978 (GRCh38)
1:20961471 (GRCh37)
Canonical SPDI:: NC_000001.11:20634977:G:A,NC_000001.11:20634977:G:C
Gene:: PINK1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
A=0.000156/1 (1000Genomes)
HGVS:: NC_000001.11:g.20634978G>A, NC_000001.11:g.20634978G>C, NC_000001.10:g.20961471G>A, NC_000001.10:g.20961471G>C, NG_008164.1:g.6524G>A, NG_008164.1:g.6524G>C

Select item 149019243320.

rs1490192433 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:20644458 (GRCh38)
1:20970951 (GRCh37)
Canonical SPDI:: NC_000001.11:20644457:G:A
Gene:: PINK1 (Varview), PINK1-AS (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (GnomAD)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.20644458G>A, NC_000001.10:g.20970951G>A, NG_008164.1:g.16004G>A

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