SNP Links for Gene (Select 57491) - SNP

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Select item 14915764591.

rs1491576459 has merged into rs1420565577 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTCTGTTC>-,CTCTGTTCCTCTGTTCCTCTGTTC [Show Flanks]
Chromosome:: 5:421651 (GRCh38)
5:421766 (GRCh37)
Canonical SPDI:: NC_000005.10:421642:CTCTGTTCCTCTGTTC:CTCTGTTC,NC_000005.10:421642:CTCTGTTCCTCTGTTC:CTCTGTTCCTCTGTTCCTCTGTTCCTCTGTTC
Gene:: AHRR (Varview), PDCD6-AHRR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCTGTTCCTCTGTTCCTCTGTTCCTCTGTTC=0./0 (ALFA)
CTCTGTTCCTCTGTTC=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.421643CTCTGTTC[1], NC_000005.10:g.421643CTCTGTTC[4], NC_000005.9:g.421758CTCTGTTC[1], NC_000005.9:g.421758CTCTGTTC[4], NG_029834.2:g.122468CTCTGTTC[1], NG_029834.2:g.122468CTCTGTTC[4]

Select item 14915706402.

rs1491570640 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 5:345126 (GRCh38)
5:345241 (GRCh37)
Canonical SPDI:: NC_000005.10:345125:AT:
Gene:: AHRR (Varview), PDCD6-AHRR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00005/1 (GnomAD)
HGVS:: NC_000005.10:g.345126_345127del, NC_000005.9:g.345241_345242del, NG_029834.2:g.45951_45952del

Select item 14915652113.

rs1491565211 has merged into rs201723135 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGG>-,G,GG [Show Flanks]
Chromosome:: 5:344452 (GRCh38)
5:344567 (GRCh37)
Canonical SPDI:: NC_000005.10:344450:GGGG:G,NC_000005.10:344450:GGGG:GG,NC_000005.10:344450:GGGG:GGG
Gene:: AHRR (Varview), PDCD6-AHRR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000005.10:g.344452_344454del, NC_000005.10:g.344453_344454del, NC_000005.10:g.344454del, NC_000005.9:g.344567_344569del, NC_000005.9:g.344568_344569del, NC_000005.9:g.344569del, NG_029834.2:g.45277_45279del, NG_029834.2:g.45278_45279del, NG_029834.2:g.45279del

Select item 14915581164.

rs1491558116 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 5:421645 (GRCh38)
5:421760 (GRCh37)
Canonical SPDI:: NC_000005.10:421641:TCTCT:TCT
Gene:: AHRR (Varview), PDCD6-AHRR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TCT=0.000094/1 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.421643CT[1], NC_000005.9:g.421758CT[1], NG_029834.2:g.122468CT[1]

Select item 14915132415.

rs1491513241 has merged into rs34022166 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA [Show Flanks]
Chromosome:: 5:303309 (GRCh38)
5:303424 (GRCh37)
Canonical SPDI:: NC_000005.10:303297:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:303297:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:303297:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:303297:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:303297:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:303297:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:303297:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:303297:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:303297:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000005.10:303297:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000005.10:303297:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
Gene:: PDCD6 (Varview), PDCD6-AHRR (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.0407/151 (TWINSUK)
-=0.0451/174 (ALSPAC)
HGVS:: NC_000005.10:g.303309_303312del, NC_000005.10:g.303310_303312del, NC_000005.10:g.303311_303312del, NC_000005.10:g.303312del, NC_000005.10:g.303312dup, NC_000005.10:g.303311_303312dup, NC_000005.10:g.303310_303312dup, NC_000005.10:g.303309_303312dup, NC_000005.10:g.303308_303312dup, NC_000005.10:g.303307_303312dup, NC_000005.10:g.303306_303312dup, NC_000005.9:g.303424_303427del, NC_000005.9:g.303425_303427del, NC_000005.9:g.303426_303427del, NC_000005.9:g.303427del, NC_000005.9:g.303427dup, NC_000005.9:g.303426_303427dup, NC_000005.9:g.303425_303427dup, NC_000005.9:g.303424_303427dup, NC_000005.9:g.303423_303427dup, NC_000005.9:g.303422_303427dup, NC_000005.9:g.303421_303427dup, NG_029834.2:g.4134_4137del, NG_029834.2:g.4135_4137del, NG_029834.2:g.4136_4137del, NG_029834.2:g.4137del, NG_029834.2:g.4137dup, NG_029834.2:g.4136_4137dup, NG_029834.2:g.4135_4137dup, NG_029834.2:g.4134_4137dup, NG_029834.2:g.4133_4137dup, NG_029834.2:g.4132_4137dup, NG_029834.2:g.4131_4137dup

Select item 14915107076.

rs1491510707 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 5:345336 (GRCh38)
5:345451 (GRCh37)
Canonical SPDI:: NC_000005.10:345335:AT:
Gene:: AHRR (Varview), PDCD6-AHRR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00065/6 (TOMMO)
-=0.06889/647 (GnomAD)
HGVS:: NC_000005.10:g.345336_345337del, NC_000005.9:g.345451_345452del, NG_029834.2:g.46161_46162del

Select item 14914952367.

rs1491495236 has merged into rs11285209 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 5:412725 (GRCh38)
5:412840 (GRCh37)
Canonical SPDI:: NC_000005.10:412715:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000005.10:412715:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000005.10:412715:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000005.10:412715:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000005.10:412715:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:412715:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:412715:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:412715:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:412715:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:412715:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000005.10:412715:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000005.10:412715:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000005.10:412715:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:412715:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:412715:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:412715:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:412715:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:412715:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:412715:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:412715:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:412715:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: AHRR (Varview), PDCD6-AHRR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
-=0.225/9 (GENOME_DK)
HGVS:: NC_000005.10:g.412725_412736del, NC_000005.10:g.412726_412736del, NC_000005.10:g.412727_412736del, NC_000005.10:g.412728_412736del, NC_000005.10:g.412729_412736del, NC_000005.10:g.412730_412736del, NC_000005.10:g.412731_412736del, NC_000005.10:g.412732_412736del, NC_000005.10:g.412733_412736del, NC_000005.10:g.412734_412736del, NC_000005.10:g.412735_412736del, NC_000005.10:g.412736del, NC_000005.10:g.412736dup, NC_000005.10:g.412735_412736dup, NC_000005.10:g.412734_412736dup, NC_000005.10:g.412733_412736dup, NC_000005.10:g.412732_412736dup, NC_000005.10:g.412731_412736dup, NC_000005.10:g.412730_412736dup, NC_000005.10:g.412729_412736dup, NC_000005.10:g.412716_412736dup, NC_000005.9:g.412840_412851del, NC_000005.9:g.412841_412851del, NC_000005.9:g.412842_412851del, NC_000005.9:g.412843_412851del, NC_000005.9:g.412844_412851del, NC_000005.9:g.412845_412851del, NC_000005.9:g.412846_412851del, NC_000005.9:g.412847_412851del, NC_000005.9:g.412848_412851del, NC_000005.9:g.412849_412851del, NC_000005.9:g.412850_412851del, NC_000005.9:g.412851del, NC_000005.9:g.412851dup, NC_000005.9:g.412850_412851dup, NC_000005.9:g.412849_412851dup, NC_000005.9:g.412848_412851dup, NC_000005.9:g.412847_412851dup, NC_000005.9:g.412846_412851dup, NC_000005.9:g.412845_412851dup, NC_000005.9:g.412844_412851dup, NC_000005.9:g.412831_412851dup, NG_029834.2:g.113550_113561del, NG_029834.2:g.113551_113561del, NG_029834.2:g.113552_113561del, NG_029834.2:g.113553_113561del, NG_029834.2:g.113554_113561del, NG_029834.2:g.113555_113561del, NG_029834.2:g.113556_113561del, NG_029834.2:g.113557_113561del, NG_029834.2:g.113558_113561del, NG_029834.2:g.113559_113561del, NG_029834.2:g.113560_113561del, NG_029834.2:g.113561del, NG_029834.2:g.113561dup, NG_029834.2:g.113560_113561dup, NG_029834.2:g.113559_113561dup, NG_029834.2:g.113558_113561dup, NG_029834.2:g.113557_113561dup, NG_029834.2:g.113556_113561dup, NG_029834.2:g.113555_113561dup, NG_029834.2:g.113554_113561dup, NG_029834.2:g.113541_113561dup

Select item 14914651618.

rs1491465161 [Homo sapiens]

Variant type:: INS
Alleles:: ->TT [Show Flanks]
Chromosome:: 5:303298 (GRCh38)
5:303414 (GRCh37)
Canonical SPDI:: NC_000005.10:303298::TT
Gene:: PDCD6 (Varview), PDCD6-AHRR (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
HGVS:: NC_000005.10:g.303298_303299insTT, NC_000005.9:g.303413_303414insTT, NG_029834.2:g.4123_4124insTT

Select item 14914351329.

rs1491435132 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 5:345550 (GRCh38)
5:345665 (GRCh37)
Canonical SPDI:: NC_000005.10:345549:AT:
Gene:: AHRR (Varview), PDCD6-AHRR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000005.10:g.345550_345551del, NC_000005.9:g.345665_345666del, NG_029834.2:g.46375_46376del

Select item 149143074910.

rs1491430749 has merged into rs146530987 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 5:345142 (GRCh38)
5:345257 (GRCh37)
Canonical SPDI:: NC_000005.10:345126:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000005.10:345126:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000005.10:345126:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000005.10:345126:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000005.10:345126:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:345126:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:345126:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:345126:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:345126:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:345126:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:345126:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:345126:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: AHRR (Varview), PDCD6-AHRR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGTGT=0./0 (ALFA)
-=0.35/14 (GENOME_DK)
HGVS:: NC_000005.10:g.345128GT[7], NC_000005.10:g.345128GT[8], NC_000005.10:g.345128GT[9], NC_000005.10:g.345128GT[10], NC_000005.10:g.345128GT[11], NC_000005.10:g.345128GT[12], NC_000005.10:g.345128GT[14], NC_000005.10:g.345128GT[15], NC_000005.10:g.345128GT[16], NC_000005.10:g.345128GT[17], NC_000005.10:g.345128GT[18], NC_000005.10:g.345128GT[19], NC_000005.9:g.345243GT[7], NC_000005.9:g.345243GT[8], NC_000005.9:g.345243GT[9], NC_000005.9:g.345243GT[10], NC_000005.9:g.345243GT[11], NC_000005.9:g.345243GT[12], NC_000005.9:g.345243GT[14], NC_000005.9:g.345243GT[15], NC_000005.9:g.345243GT[16], NC_000005.9:g.345243GT[17], NC_000005.9:g.345243GT[18], NC_000005.9:g.345243GT[19], NG_029834.2:g.45953GT[7], NG_029834.2:g.45953GT[8], NG_029834.2:g.45953GT[9], NG_029834.2:g.45953GT[10], NG_029834.2:g.45953GT[11], NG_029834.2:g.45953GT[12], NG_029834.2:g.45953GT[14], NG_029834.2:g.45953GT[15], NG_029834.2:g.45953GT[16], NG_029834.2:g.45953GT[17], NG_029834.2:g.45953GT[18], NG_029834.2:g.45953GT[19]

Select item 149142367811.

rs1491423678 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,ATA,ATATA,ATATATA,ATATATATA,ATATATATATA,ATATATATATATA,ATATATATATATATA,ATATATATATATATATA,ATATATATATATATATATA,ATATATATATATATATATATA,ATATATATATATATATATATATA,ATATATATATATATATATATATATA,ATATATATATATATATATATATATATA,ATATATATATATATATATATATATATATA,ATATATATATATATATATATATATATATATA,ATATATATATATATATATATATTTA,ATATATATATATATATATATTTATTTA [Show Flanks]
Chromosome:: 5:340689 (GRCh38)
5:340805 (GRCh37)
Canonical SPDI:: NC_000005.10:340689::A,NC_000005.10:340689::ATA,NC_000005.10:340689::ATATA,NC_000005.10:340689::ATATATA,NC_000005.10:340689::ATATATATA,NC_000005.10:340689::ATATATATATA,NC_000005.10:340689::ATATATATATATA,NC_000005.10:340689::ATATATATATATATA,NC_000005.10:340689::ATATATATATATATATA,NC_000005.10:340689::ATATATATATATATATATA,NC_000005.10:340689::ATATATATATATATATATATA,NC_000005.10:340689::ATATATATATATATATATATATA,NC_000005.10:340689::ATATATATATATATATATATATATA,NC_000005.10:340689::ATATATATATATATATATATATATATA,NC_000005.10:340689::ATATATATATATATATATATATATATATA,NC_000005.10:340689::ATATATATATATATATATATATATATATATA,NC_000005.10:340689::ATATATATATATATATATATATTTA,NC_000005.10:340689::ATATATATATATATATATATTTATTTA
Gene:: AHRR (Varview), PDCD6-AHRR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATA=0./0 (ALFA)
HGVS:: NC_000005.10:g.340689_340690insA, NC_000005.10:g.340689_340690insATA, NC_000005.10:g.340689_340690insATATA, NC_000005.10:g.340689_340690insATATATA, NC_000005.10:g.340689_340690insATATATATA, NC_000005.10:g.340689_340690insATATATATATA, NC_000005.10:g.340689_340690insATATATATATATA, NC_000005.10:g.340689_340690insATATATATATATATA, NC_000005.10:g.340689_340690insATATATATATATATATA, NC_000005.10:g.340689_340690insATATATATATATATATATA, NC_000005.10:g.340689_340690insATATATATATATATATATATA, NC_000005.10:g.340689_340690insATATATATATATATATATATATA, NC_000005.10:g.340689_340690insATATATATATATATATATATATATA, NC_000005.10:g.340689_340690insATATATATATATATATATATATATATA, NC_000005.10:g.340689_340690insATATATATATATATATATATATATATATA, NC_000005.10:g.340689_340690insATATATATATATATATATATATATATATATA, NC_000005.10:g.340689_340690insATATATATATATATATATATATTTA, NC_000005.10:g.340689_340690insATATATATATATATATATATTTATTTA, NC_000005.9:g.340804_340805insA, NC_000005.9:g.340804_340805insATA, NC_000005.9:g.340804_340805insATATA, NC_000005.9:g.340804_340805insATATATA, NC_000005.9:g.340804_340805insATATATATA, NC_000005.9:g.340804_340805insATATATATATA, NC_000005.9:g.340804_340805insATATATATATATA, NC_000005.9:g.340804_340805insATATATATATATATA, NC_000005.9:g.340804_340805insATATATATATATATATA, NC_000005.9:g.340804_340805insATATATATATATATATATA, NC_000005.9:g.340804_340805insATATATATATATATATATATA, NC_000005.9:g.340804_340805insATATATATATATATATATATATA, NC_000005.9:g.340804_340805insATATATATATATATATATATATATA, NC_000005.9:g.340804_340805insATATATATATATATATATATATATATA, NC_000005.9:g.340804_340805insATATATATATATATATATATATATATATA, NC_000005.9:g.340804_340805insATATATATATATATATATATATATATATATA, NC_000005.9:g.340804_340805insATATATATATATATATATATATTTA, NC_000005.9:g.340804_340805insATATATATATATATATATATTTATTTA, NG_029834.2:g.41514_41515insA, NG_029834.2:g.41514_41515insATA, NG_029834.2:g.41514_41515insATATA, NG_029834.2:g.41514_41515insATATATA, NG_029834.2:g.41514_41515insATATATATA, NG_029834.2:g.41514_41515insATATATATATA, NG_029834.2:g.41514_41515insATATATATATATA, NG_029834.2:g.41514_41515insATATATATATATATA, NG_029834.2:g.41514_41515insATATATATATATATATA, NG_029834.2:g.41514_41515insATATATATATATATATATA, NG_029834.2:g.41514_41515insATATATATATATATATATATA, NG_029834.2:g.41514_41515insATATATATATATATATATATATA, NG_029834.2:g.41514_41515insATATATATATATATATATATATATA, NG_029834.2:g.41514_41515insATATATATATATATATATATATATATA, NG_029834.2:g.41514_41515insATATATATATATATATATATATATATATA, NG_029834.2:g.41514_41515insATATATATATATATATATATATATATATATA, NG_029834.2:g.41514_41515insATATATATATATATATATATATTTA, NG_029834.2:g.41514_41515insATATATATATATATATATATTTATTTA

Select item 149141528612.

rs1491415286 has merged into rs781159124 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 5:381517 (GRCh38)
5:381632 (GRCh37)
Canonical SPDI:: NC_000005.10:381506:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000005.10:381506:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000005.10:381506:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000005.10:381506:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:381506:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:381506:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:381506:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:381506:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:381506:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000005.10:381506:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000005.10:381506:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000005.10:381506:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000005.10:381506:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:381506:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:381506:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:381506:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:381506:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:381506:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:381506:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:381506:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:381506:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:381506:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:381506:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:381506:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:381506:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:381506:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:381506:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:381506:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:381506:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:381506:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:381506:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:381506:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:381506:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: AHRR (Varview), PDCD6-AHRR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.05/2 (GENOME_DK)
HGVS:: NC_000005.10:g.381517_381533del, NC_000005.10:g.381518_381533del, NC_000005.10:g.381519_381533del, NC_000005.10:g.381520_381533del, NC_000005.10:g.381521_381533del, NC_000005.10:g.381522_381533del, NC_000005.10:g.381523_381533del, NC_000005.10:g.381524_381533del, NC_000005.10:g.381525_381533del, NC_000005.10:g.381526_381533del, NC_000005.10:g.381527_381533del, NC_000005.10:g.381528_381533del, NC_000005.10:g.381529_381533del, NC_000005.10:g.381530_381533del, NC_000005.10:g.381531_381533del, NC_000005.10:g.381532_381533del, NC_000005.10:g.381533del, NC_000005.10:g.381533dup, NC_000005.10:g.381532_381533dup, NC_000005.10:g.381531_381533dup, NC_000005.10:g.381530_381533dup, NC_000005.10:g.381529_381533dup, NC_000005.10:g.381528_381533dup, NC_000005.10:g.381527_381533dup, NC_000005.10:g.381526_381533dup, NC_000005.10:g.381525_381533dup, NC_000005.10:g.381524_381533dup, NC_000005.10:g.381523_381533dup, NC_000005.10:g.381522_381533dup, NC_000005.10:g.381521_381533dup, NC_000005.10:g.381520_381533dup, NC_000005.10:g.381515_381533dup, NC_000005.10:g.381514_381533dup, NC_000005.9:g.381632_381648del, NC_000005.9:g.381633_381648del, NC_000005.9:g.381634_381648del, NC_000005.9:g.381635_381648del, NC_000005.9:g.381636_381648del, NC_000005.9:g.381637_381648del, NC_000005.9:g.381638_381648del, NC_000005.9:g.381639_381648del, NC_000005.9:g.381640_381648del, NC_000005.9:g.381641_381648del, NC_000005.9:g.381642_381648del, NC_000005.9:g.381643_381648del, NC_000005.9:g.381644_381648del, NC_000005.9:g.381645_381648del, NC_000005.9:g.381646_381648del, NC_000005.9:g.381647_381648del, NC_000005.9:g.381648del, NC_000005.9:g.381648dup, NC_000005.9:g.381647_381648dup, NC_000005.9:g.381646_381648dup, NC_000005.9:g.381645_381648dup, NC_000005.9:g.381644_381648dup, NC_000005.9:g.381643_381648dup, NC_000005.9:g.381642_381648dup, NC_000005.9:g.381641_381648dup, NC_000005.9:g.381640_381648dup, NC_000005.9:g.381639_381648dup, NC_000005.9:g.381638_381648dup, NC_000005.9:g.381637_381648dup, NC_000005.9:g.381636_381648dup, NC_000005.9:g.381635_381648dup, NC_000005.9:g.381630_381648dup, NC_000005.9:g.381629_381648dup, NG_029834.2:g.82342_82358del, NG_029834.2:g.82343_82358del, NG_029834.2:g.82344_82358del, NG_029834.2:g.82345_82358del, NG_029834.2:g.82346_82358del, NG_029834.2:g.82347_82358del, NG_029834.2:g.82348_82358del, NG_029834.2:g.82349_82358del, NG_029834.2:g.82350_82358del, NG_029834.2:g.82351_82358del, NG_029834.2:g.82352_82358del, NG_029834.2:g.82353_82358del, NG_029834.2:g.82354_82358del, NG_029834.2:g.82355_82358del, NG_029834.2:g.82356_82358del, NG_029834.2:g.82357_82358del, NG_029834.2:g.82358del, NG_029834.2:g.82358dup, NG_029834.2:g.82357_82358dup, NG_029834.2:g.82356_82358dup, NG_029834.2:g.82355_82358dup, NG_029834.2:g.82354_82358dup, NG_029834.2:g.82353_82358dup, NG_029834.2:g.82352_82358dup, NG_029834.2:g.82351_82358dup, NG_029834.2:g.82350_82358dup, NG_029834.2:g.82349_82358dup, NG_029834.2:g.82348_82358dup, NG_029834.2:g.82347_82358dup, NG_029834.2:g.82346_82358dup, NG_029834.2:g.82345_82358dup, NG_029834.2:g.82340_82358dup, NG_029834.2:g.82339_82358dup

Select item 149136637913.

rs1491366379 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 5:317658 (GRCh38)
5:317773 (GRCh37)
Canonical SPDI:: NC_000005.10:317657:TG:
Gene:: PDCD6-AHRR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.317658_317659del, NC_000005.9:g.317773_317774del, NG_029834.2:g.18483_18484del

Select item 149135126714.

rs1491351267 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AT [Show Flanks]
Chromosome:: 5:345335 (GRCh38)
5:345451 (GRCh37)
Canonical SPDI:: NC_000005.10:345335:AT:ATAT
Gene:: AHRR (Varview), PDCD6-AHRR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ATAT=0./0 (ALFA)
AT=0.0013/12 (GnomAD)
HGVS:: NC_000005.10:g.345336_345337dup, NC_000005.9:g.345451_345452dup, NG_029834.2:g.46161_46162dup

Select item 149134835115.

rs1491348351 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 5:419168 (GRCh38)
5:419283 (GRCh37)
Canonical SPDI:: NC_000005.10:419167:AT:
Gene:: AHRR (Varview), PDCD6-AHRR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00004/3 (GnomAD)
-=0.00016/1 (1000Genomes)
HGVS:: NC_000005.10:g.419168_419169del, NC_000005.9:g.419283_419284del, NG_029834.2:g.119993_119994del

Select item 149132442716.

rs1491324427 has merged into rs148960070 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 5:345346 (GRCh38)
5:345461 (GRCh37)
Canonical SPDI:: NC_000005.10:345336:TGTGTGTGTGTGTGTGT:TGTGTGTGT,NC_000005.10:345336:TGTGTGTGTGTGTGTGT:TGTGTGTGTGT,NC_000005.10:345336:TGTGTGTGTGTGTGTGT:TGTGTGTGTGTGT,NC_000005.10:345336:TGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000005.10:345336:TGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000005.10:345336:TGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000005.10:345336:TGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:345336:TGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: AHRR (Varview), PDCD6-AHRR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGT=0./0 (ALFA)
TG=0.075/3 (GENOME_DK)
-=0.3225/3025 (TOMMO)
HGVS:: NC_000005.10:g.345338GT[4], NC_000005.10:g.345338GT[5], NC_000005.10:g.345338GT[6], NC_000005.10:g.345338GT[7], NC_000005.10:g.345338GT[9], NC_000005.10:g.345338GT[10], NC_000005.10:g.345338GT[11], NC_000005.10:g.345338GT[12], NC_000005.9:g.345453GT[4], NC_000005.9:g.345453GT[5], NC_000005.9:g.345453GT[6], NC_000005.9:g.345453GT[7], NC_000005.9:g.345453GT[9], NC_000005.9:g.345453GT[10], NC_000005.9:g.345453GT[11], NC_000005.9:g.345453GT[12], NG_029834.2:g.46163GT[4], NG_029834.2:g.46163GT[5], NG_029834.2:g.46163GT[6], NG_029834.2:g.46163GT[7], NG_029834.2:g.46163GT[9], NG_029834.2:g.46163GT[10], NG_029834.2:g.46163GT[11], NG_029834.2:g.46163GT[12]

Select item 149131678917.

rs1491316789 [Homo sapiens]

Variant type:: INS
Alleles:: ->GGGG,GGGGCGGGAGGC [Show Flanks]
Chromosome:: 5:415575 (GRCh38)
5:415691 (GRCh37)
Canonical SPDI:: NC_000005.10:415575::GGGG,NC_000005.10:415575::GGGGCGGGAGGC
Gene:: AHRR (Varview), PDCD6-AHRR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: GGGG=0.00071/12 (TOMMO)
HGVS:: NC_000005.10:g.415575_415576insGGGG, NC_000005.10:g.415575_415576insGGGGCGGGAGGC, NC_000005.9:g.415690_415691insGGGG, NC_000005.9:g.415690_415691insGGGGCGGGAGGC, NG_029834.2:g.116400_116401insGGGG, NG_029834.2:g.116400_116401insGGGGCGGGAGGC

Select item 149131447118.

rs1491314471 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 5:324020 (GRCh38)
5:324136 (GRCh37)
Canonical SPDI:: NC_000005.10:324020::C
Gene:: AHRR (Varview), PDCD6-AHRR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000224/1 (ALFA)
C=0.000023/3 (GnomAD)
HGVS:: NC_000005.10:g.324020_324021insC, NC_000005.9:g.324135_324136insC, NG_029834.2:g.24845_24846insC

Select item 149131236319.

rs1491312363 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 5:412736 (GRCh38)
5:412852 (GRCh37)
Canonical SPDI:: NC_000005.10:412736:C:CC
Gene:: AHRR (Varview), PDCD6-AHRR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
HGVS:: NC_000005.10:g.412737dup, NC_000005.9:g.412852dup, NG_029834.2:g.113562dup

Select item 149130822020.

rs1491308220 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TTTTGGCAGGT [Show Flanks]
Chromosome:: 5:344840 (GRCh38)
5:344956 (GRCh37)
Canonical SPDI:: NC_000005.10:344840:GT:GTTTTTGGCAGGT
Gene:: AHRR (Varview), PDCD6-AHRR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GTTTTTGGCAGGT=0./0 (ALFA)
HGVS:: NC_000005.10:g.344842_344843insTTTTGGCAGGT, NC_000005.9:g.344957_344958insTTTTGGCAGGT, NG_029834.2:g.45667_45668insTTTTGGCAGGT

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