SNP Links for Gene (Select 5329) - SNP

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Select item 14915553931.

rs1491555393 has merged into rs3052823 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 19:43659180 (GRCh38)
19:44163332 (GRCh37)
Canonical SPDI:: NC_000019.10:43659167:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:43659167:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:43659167:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:43659167:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:43659167:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:43659167:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:43659167:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:43659167:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:43659167:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:43659167:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:43659167:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:43659167:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:43659167:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:43659167:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:43659167:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:43659167:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:43659167:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:43659167:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:43659167:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:43659167:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:43659167:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:43659167:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:43659167:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:43659167:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:43659167:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:43659167:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:43659167:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:43659167:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:43659167:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:43659167:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: PLAUR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000019.10:g.43659180_43659182del, NC_000019.10:g.43659181_43659182del, NC_000019.10:g.43659182del, NC_000019.10:g.43659182dup, NC_000019.10:g.43659181_43659182dup, NC_000019.10:g.43659180_43659182dup, NC_000019.10:g.43659179_43659182dup, NC_000019.10:g.43659178_43659182dup, NC_000019.10:g.43659177_43659182dup, NC_000019.10:g.43659176_43659182dup, NC_000019.10:g.43659175_43659182dup, NC_000019.10:g.43659174_43659182dup, NC_000019.10:g.43659173_43659182dup, NC_000019.10:g.43659172_43659182dup, NC_000019.10:g.43659171_43659182dup, NC_000019.10:g.43659170_43659182dup, NC_000019.10:g.43659169_43659182dup, NC_000019.10:g.43659168_43659182dup, NC_000019.10:g.43659182_43659183insTTTTTTTTTTTTTTTT, NC_000019.10:g.43659182_43659183insTTTTTTTTTTTTTTTTT, NC_000019.10:g.43659182_43659183insTTTTTTTTTTTTTTTTTT, NC_000019.10:g.43659182_43659183insTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.43659182_43659183insTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.43659182_43659183insTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.43659182_43659183insTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.43659182_43659183insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.43659182_43659183insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.43659182_43659183insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.43659182_43659183insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.43659182_43659183insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.44163332_44163334del, NC_000019.9:g.44163333_44163334del, NC_000019.9:g.44163334del, NC_000019.9:g.44163334dup, NC_000019.9:g.44163333_44163334dup, NC_000019.9:g.44163332_44163334dup, NC_000019.9:g.44163331_44163334dup, NC_000019.9:g.44163330_44163334dup, NC_000019.9:g.44163329_44163334dup, NC_000019.9:g.44163328_44163334dup, NC_000019.9:g.44163327_44163334dup, NC_000019.9:g.44163326_44163334dup, NC_000019.9:g.44163325_44163334dup, NC_000019.9:g.44163324_44163334dup, NC_000019.9:g.44163323_44163334dup, NC_000019.9:g.44163322_44163334dup, NC_000019.9:g.44163321_44163334dup, NC_000019.9:g.44163320_44163334dup, NC_000019.9:g.44163334_44163335insTTTTTTTTTTTTTTTT, NC_000019.9:g.44163334_44163335insTTTTTTTTTTTTTTTTT, NC_000019.9:g.44163334_44163335insTTTTTTTTTTTTTTTTTT, NC_000019.9:g.44163334_44163335insTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.44163334_44163335insTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.44163334_44163335insTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.44163334_44163335insTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.44163334_44163335insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.44163334_44163335insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.44163334_44163335insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.44163334_44163335insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.44163334_44163335insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_032898.1:g.16177_16179del, NG_032898.1:g.16178_16179del, NG_032898.1:g.16179del, NG_032898.1:g.16179dup, NG_032898.1:g.16178_16179dup, NG_032898.1:g.16177_16179dup, NG_032898.1:g.16176_16179dup, NG_032898.1:g.16175_16179dup, NG_032898.1:g.16174_16179dup, NG_032898.1:g.16173_16179dup, NG_032898.1:g.16172_16179dup, NG_032898.1:g.16171_16179dup, NG_032898.1:g.16170_16179dup, NG_032898.1:g.16169_16179dup, NG_032898.1:g.16168_16179dup, NG_032898.1:g.16167_16179dup, NG_032898.1:g.16166_16179dup, NG_032898.1:g.16165_16179dup, NG_032898.1:g.16179_16180insAAAAAAAAAAAAAAAA, NG_032898.1:g.16179_16180insAAAAAAAAAAAAAAAAA, NG_032898.1:g.16179_16180insAAAAAAAAAAAAAAAAAA, NG_032898.1:g.16179_16180insAAAAAAAAAAAAAAAAAAA, NG_032898.1:g.16179_16180insAAAAAAAAAAAAAAAAAAAA, NG_032898.1:g.16179_16180insAAAAAAAAAAAAAAAAAAAAAA, NG_032898.1:g.16179_16180insAAAAAAAAAAAAAAAAAAAAAAA, NG_032898.1:g.16179_16180insAAAAAAAAAAAAAAAAAAAAAAAA, NG_032898.1:g.16179_16180insAAAAAAAAAAAAAAAAAAAAAAAAA, NG_032898.1:g.16179_16180insAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_032898.1:g.16179_16180insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_032898.1:g.16179_16180insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14912912512.

rs1491291251 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 19:43669809 (GRCh38)
19:44173961 (GRCh37)
Canonical SPDI:: NC_000019.10:43669808:CA:
Gene:: PLAUR (Varview), LOC124904724 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00194/23 (ALFA)
HGVS:: NC_000019.10:g.43669809_43669810del, NC_000019.9:g.44173961_44173962del, NG_032898.1:g.5537_5538del

Select item 14912343763.

rs1491234376 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 19:43663300 (GRCh38)
19:44167452 (GRCh37)
Canonical SPDI:: NC_000019.10:43663299:TA:
Gene:: PLAUR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00093/11 (ALFA)
HGVS:: NC_000019.10:g.43663300_43663301del, NC_000019.9:g.44167452_44167453del, NG_032898.1:g.12046_12047del

Select item 14912248014.

rs1491224801 has merged into rs1198012015 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT,TTT [Show Flanks]
Chromosome:: 19:43650311 (GRCh38)
19:44154463 (GRCh37)
Canonical SPDI:: NC_000019.10:43650310:TTTTTTTTTT:TTTTTTTTT,NC_000019.10:43650310:TTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:43650310:TTTTTTTTTT:TTTTTTTTTTTT
Gene:: PLAUR (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
-=0.000358/6 (TOMMO)
-=0.003333/2 (NorthernSweden)
-=0.010371/19 (Korea1K)
-=0.010745/2844 (TOPMED)
HGVS:: NC_000019.10:g.43650320del, NC_000019.10:g.43650320dup, NC_000019.10:g.43650319_43650320dup, NC_000019.9:g.44154472del, NC_000019.9:g.44154472dup, NC_000019.9:g.44154471_44154472dup, NG_032898.1:g.25036del, NG_032898.1:g.25036dup, NG_032898.1:g.25035_25036dup

Select item 14912192525.

rs1491219252 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 19:43650310 (GRCh38)
19:44154462 (GRCh37)
Canonical SPDI:: NC_000019.10:43650309:GT:
Gene:: PLAUR (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000019.10:g.43650310_43650311del, NC_000019.9:g.44154462_44154463del, NG_032898.1:g.25036_25037del

Select item 14911659776.

rs1491165977 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->CTTTTTT
Chromosome:: no mapping
Canonical SPDI:

Select item 14911095057.

rs1491109505 has merged into rs10524578 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTGTTTTGTTTTGTTTTG>-,TTTTG,TTTTGTTTTG,TTTTGTTTTGTTTTG,TTTTGTTTTGTTTTGTTTTGTTTTG,TTTTGTTTTGTTTTGTTTTGTTTTGTTTTG,TTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTG,TTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTG,TTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTG [Show Flanks]
Chromosome:: 19:43660165 (GRCh38)
19:44164317 (GRCh37)
Canonical SPDI:: NC_000019.10:43660153:GTTTTGTTTTGTTTTGTTTTGTTTTGTTTTG:GTTTTGTTTTG,NC_000019.10:43660153:GTTTTGTTTTGTTTTGTTTTGTTTTGTTTTG:GTTTTGTTTTGTTTTG,NC_000019.10:43660153:GTTTTGTTTTGTTTTGTTTTGTTTTGTTTTG:GTTTTGTTTTGTTTTGTTTTG,NC_000019.10:43660153:GTTTTGTTTTGTTTTGTTTTGTTTTGTTTTG:GTTTTGTTTTGTTTTGTTTTGTTTTG,NC_000019.10:43660153:GTTTTGTTTTGTTTTGTTTTGTTTTGTTTTG:GTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTG,NC_000019.10:43660153:GTTTTGTTTTGTTTTGTTTTGTTTTGTTTTG:GTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTG,NC_000019.10:43660153:GTTTTGTTTTGTTTTGTTTTGTTTTGTTTTG:GTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTG,NC_000019.10:43660153:GTTTTGTTTTGTTTTGTTTTGTTTTGTTTTG:GTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTG,NC_000019.10:43660153:GTTTTGTTTTGTTTTGTTTTGTTTTGTTTTG:GTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTG
Gene:: PLAUR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTTTTGTTTTGTTTTGTTTTG=0./0 (ALFA)
-=0.25/10 (GENOME_DK)
HGVS:: NC_000019.10:g.43660155TTTTG[2], NC_000019.10:g.43660155TTTTG[3], NC_000019.10:g.43660155TTTTG[4], NC_000019.10:g.43660155TTTTG[5], NC_000019.10:g.43660155TTTTG[7], NC_000019.10:g.43660155TTTTG[8], NC_000019.10:g.43660155TTTTG[9], NC_000019.10:g.43660155TTTTG[10], NC_000019.10:g.43660155TTTTG[11], NC_000019.9:g.44164307TTTTG[2], NC_000019.9:g.44164307TTTTG[3], NC_000019.9:g.44164307TTTTG[4], NC_000019.9:g.44164307TTTTG[5], NC_000019.9:g.44164307TTTTG[7], NC_000019.9:g.44164307TTTTG[8], NC_000019.9:g.44164307TTTTG[9], NC_000019.9:g.44164307TTTTG[10], NC_000019.9:g.44164307TTTTG[11], NG_032898.1:g.15164AAAAC[2], NG_032898.1:g.15164AAAAC[3], NG_032898.1:g.15164AAAAC[4], NG_032898.1:g.15164AAAAC[5], NG_032898.1:g.15164AAAAC[7], NG_032898.1:g.15164AAAAC[8], NG_032898.1:g.15164AAAAC[9], NG_032898.1:g.15164AAAAC[10], NG_032898.1:g.15164AAAAC[11]

Select item 14910927548.

rs1491092754 has merged into rs59728904 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 19:43669820 (GRCh38)
19:44173972 (GRCh37)
Canonical SPDI:: NC_000019.10:43669809:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000019.10:43669809:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:43669809:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:43669809:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:43669809:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:43669809:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:43669809:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:43669809:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:43669809:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:43669809:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:43669809:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:43669809:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:43669809:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:43669809:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:43669809:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:43669809:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:43669809:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:43669809:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:43669809:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:43669809:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:43669809:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:43669809:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:43669809:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:43669809:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:43669809:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PLAUR (Varview), LOC124904724 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
AA=0.2784/1394 (1000Genomes)
HGVS:: NC_000019.10:g.43669820_43669833del, NC_000019.10:g.43669821_43669833del, NC_000019.10:g.43669822_43669833del, NC_000019.10:g.43669823_43669833del, NC_000019.10:g.43669824_43669833del, NC_000019.10:g.43669825_43669833del, NC_000019.10:g.43669826_43669833del, NC_000019.10:g.43669827_43669833del, NC_000019.10:g.43669828_43669833del, NC_000019.10:g.43669829_43669833del, NC_000019.10:g.43669830_43669833del, NC_000019.10:g.43669831_43669833del, NC_000019.10:g.43669832_43669833del, NC_000019.10:g.43669833del, NC_000019.10:g.43669833dup, NC_000019.10:g.43669832_43669833dup, NC_000019.10:g.43669831_43669833dup, NC_000019.10:g.43669830_43669833dup, NC_000019.10:g.43669829_43669833dup, NC_000019.10:g.43669828_43669833dup, NC_000019.10:g.43669827_43669833dup, NC_000019.10:g.43669825_43669833dup, NC_000019.10:g.43669818_43669833dup, NC_000019.10:g.43669833_43669834insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.10:g.43669833_43669834insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.44173972_44173985del, NC_000019.9:g.44173973_44173985del, NC_000019.9:g.44173974_44173985del, NC_000019.9:g.44173975_44173985del, NC_000019.9:g.44173976_44173985del, NC_000019.9:g.44173977_44173985del, NC_000019.9:g.44173978_44173985del, NC_000019.9:g.44173979_44173985del, NC_000019.9:g.44173980_44173985del, NC_000019.9:g.44173981_44173985del, NC_000019.9:g.44173982_44173985del, NC_000019.9:g.44173983_44173985del, NC_000019.9:g.44173984_44173985del, NC_000019.9:g.44173985del, NC_000019.9:g.44173985dup, NC_000019.9:g.44173984_44173985dup, NC_000019.9:g.44173983_44173985dup, NC_000019.9:g.44173982_44173985dup, NC_000019.9:g.44173981_44173985dup, NC_000019.9:g.44173980_44173985dup, NC_000019.9:g.44173979_44173985dup, NC_000019.9:g.44173977_44173985dup, NC_000019.9:g.44173970_44173985dup, NC_000019.9:g.44173985_44173986insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.44173985_44173986insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_032898.1:g.5524_5537del, NG_032898.1:g.5525_5537del, NG_032898.1:g.5526_5537del, NG_032898.1:g.5527_5537del, NG_032898.1:g.5528_5537del, NG_032898.1:g.5529_5537del, NG_032898.1:g.5530_5537del, NG_032898.1:g.5531_5537del, NG_032898.1:g.5532_5537del, NG_032898.1:g.5533_5537del, NG_032898.1:g.5534_5537del, NG_032898.1:g.5535_5537del, NG_032898.1:g.5536_5537del, NG_032898.1:g.5537del, NG_032898.1:g.5537dup, NG_032898.1:g.5536_5537dup, NG_032898.1:g.5535_5537dup, NG_032898.1:g.5534_5537dup, NG_032898.1:g.5533_5537dup, NG_032898.1:g.5532_5537dup, NG_032898.1:g.5531_5537dup, NG_032898.1:g.5529_5537dup, NG_032898.1:g.5522_5537dup, NG_032898.1:g.5537_5538insTTTTTTTTTTTTTTTTTTTTTTTTT, NG_032898.1:g.5537_5538insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14910669419.

rs1491066941 has merged into rs34689348 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 19:43655287 (GRCh38)
19:44159439 (GRCh37)
Canonical SPDI:: NC_000019.10:43655276:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000019.10:43655276:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:43655276:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:43655276:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:43655276:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:43655276:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:43655276:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:43655276:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:43655276:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:43655276:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:43655276:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:43655276:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:43655276:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:43655276:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:43655276:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:43655276:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:43655276:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:43655276:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:43655276:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PLAUR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000019.10:g.43655287_43655299del, NC_000019.10:g.43655288_43655299del, NC_000019.10:g.43655289_43655299del, NC_000019.10:g.43655290_43655299del, NC_000019.10:g.43655291_43655299del, NC_000019.10:g.43655293_43655299del, NC_000019.10:g.43655294_43655299del, NC_000019.10:g.43655295_43655299del, NC_000019.10:g.43655296_43655299del, NC_000019.10:g.43655297_43655299del, NC_000019.10:g.43655298_43655299del, NC_000019.10:g.43655299del, NC_000019.10:g.43655299dup, NC_000019.10:g.43655298_43655299dup, NC_000019.10:g.43655297_43655299dup, NC_000019.10:g.43655296_43655299dup, NC_000019.10:g.43655295_43655299dup, NC_000019.10:g.43655294_43655299dup, NC_000019.10:g.43655290_43655299dup, NC_000019.9:g.44159439_44159451del, NC_000019.9:g.44159440_44159451del, NC_000019.9:g.44159441_44159451del, NC_000019.9:g.44159442_44159451del, NC_000019.9:g.44159443_44159451del, NC_000019.9:g.44159445_44159451del, NC_000019.9:g.44159446_44159451del, NC_000019.9:g.44159447_44159451del, NC_000019.9:g.44159448_44159451del, NC_000019.9:g.44159449_44159451del, NC_000019.9:g.44159450_44159451del, NC_000019.9:g.44159451del, NC_000019.9:g.44159451dup, NC_000019.9:g.44159450_44159451dup, NC_000019.9:g.44159449_44159451dup, NC_000019.9:g.44159448_44159451dup, NC_000019.9:g.44159447_44159451dup, NC_000019.9:g.44159446_44159451dup, NC_000019.9:g.44159442_44159451dup, NG_032898.1:g.20058_20070del, NG_032898.1:g.20059_20070del, NG_032898.1:g.20060_20070del, NG_032898.1:g.20061_20070del, NG_032898.1:g.20062_20070del, NG_032898.1:g.20064_20070del, NG_032898.1:g.20065_20070del, NG_032898.1:g.20066_20070del, NG_032898.1:g.20067_20070del, NG_032898.1:g.20068_20070del, NG_032898.1:g.20069_20070del, NG_032898.1:g.20070del, NG_032898.1:g.20070dup, NG_032898.1:g.20069_20070dup, NG_032898.1:g.20068_20070dup, NG_032898.1:g.20067_20070dup, NG_032898.1:g.20066_20070dup, NG_032898.1:g.20065_20070dup, NG_032898.1:g.20061_20070dup

Select item 149082131110.

rs1490821311 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 19:43655196 (GRCh38)
19:44159348 (GRCh37)
Canonical SPDI:: NC_000019.10:43655195:G:
Gene:: PLAUR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.43655196del, NC_000019.9:g.44159348del, NG_032898.1:g.20151del

Select item 149069511411.

rs1490695114 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:43668960 (GRCh38)
19:44173112 (GRCh37)
Canonical SPDI:: NC_000019.10:43668959:G:T
Gene:: PLAUR (Varview), LOC124904724 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,intron_variant,genic_upstream_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_000019.10:g.43668960G>T, NC_000019.9:g.44173112G>T, NG_032898.1:g.6387C>A, XR_007067264.1:n.197G>T

Select item 149053987212.

rs1490539872 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 19:43648038 (GRCh38)
19:44152190 (GRCh37)
Canonical SPDI:: NC_000019.10:43648037:T:C,NC_000019.10:43648037:T:G
Gene:: PLAUR (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000019.10:g.43648038T>C, NC_000019.10:g.43648038T>G, NC_000019.9:g.44152190T>C, NC_000019.9:g.44152190T>G, NG_032898.1:g.27309A>G, NG_032898.1:g.27309A>C

Select item 149034441013.

rs1490344410 [Homo sapiens]

Variant type:: INS
Alleles:: ->TG [Show Flanks]
Chromosome:: 19:43665760 (GRCh38)
19:44169913 (GRCh37)
Canonical SPDI:: NC_000019.10:43665760::TG
Gene:: PLAUR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: TG=0.00542/89 (TOMMO)
HGVS:: NC_000019.10:g.43665760_43665761insTG, NC_000019.9:g.44169912_44169913insTG, NG_032898.1:g.9586_9587insCA

Select item 149020613914.

rs1490206139 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:43669350 (GRCh38)
19:44173502 (GRCh37)
Canonical SPDI:: NC_000019.10:43669349:G:A,NC_000019.10:43669349:G:C
Gene:: PLAUR (Varview), LOC124904724 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000019.10:g.43669350G>A, NC_000019.10:g.43669350G>C, NC_000019.9:g.44173502G>A, NC_000019.9:g.44173502G>C, NG_032898.1:g.5997C>T, NG_032898.1:g.5997C>G

Select item 149010650815.

rs1490106508 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:43652555 (GRCh38)
19:44156707 (GRCh37)
Canonical SPDI:: NC_000019.10:43652554:C:A
Gene:: PLAUR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000019.10:g.43652555C>A, NC_000019.9:g.44156707C>A, NG_032898.1:g.22792G>T

Select item 149008369916.

rs1490083699 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:43662353 (GRCh38)
19:44166505 (GRCh37)
Canonical SPDI:: NC_000019.10:43662352:C:G
Gene:: PLAUR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.43662353C>G, NC_000019.9:g.44166505C>G, NG_032898.1:g.12994G>C

Select item 149005615917.

rs1490056159 [Homo sapiens]

Variant type:: SNV:
Alleles:: A>G
Chromosome:: no mapping
Canonical SPDI:

Select item 149004925518.

rs1490049255 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:43652397 (GRCh38)
19:44156549 (GRCh37)
Canonical SPDI:: NC_000019.10:43652396:G:A
Gene:: PLAUR (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000019.10:g.43652397G>A, NC_000019.9:g.44156549G>A, NG_032898.1:g.22950C>T

Select item 149002502719.

rs1490025027 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:43647504 (GRCh38)
19:44151656 (GRCh37)
Canonical SPDI:: NC_000019.10:43647503:G:A
Gene:: PLAUR (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.43647504G>A, NC_000019.9:g.44151656G>A, NG_032898.1:g.27843C>T

Select item 148997076520.

rs1489970765 [Homo sapiens]

Variant type:: DEL
Alleles:: TACACA>- [Show Flanks]
Chromosome:: 19:43663300 (GRCh38)
19:44167452 (GRCh37)
Canonical SPDI:: NC_000019.10:43663299:TACACA:
Gene:: PLAUR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00008/1 (ALFA)
-=0.00004/1 (TOMMO)
HGVS:: NC_000019.10:g.43663300_43663305del, NC_000019.9:g.44167452_44167457del, NG_032898.1:g.12042_12047del

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