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Select item 14915793931.

rs1491579393 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 1:177149597 (GRCh38)
1:177118733 (GRCh37)
Canonical SPDI:: NC_000001.11:177149596:CT:
Gene:: ASTN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000001.11:g.177149597_177149598del, NC_000001.10:g.177118733_177118734del

Select item 14915783862.

rs1491578386 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 1:176994035 (GRCh38)
1:176963171 (GRCh37)
Canonical SPDI:: NC_000001.11:176994034:GA:
Gene:: ASTN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by cluster
HGVS:: NC_000001.11:g.176994035_176994036del, NC_000001.10:g.176963171_176963172del

Select item 14915646343.

rs1491564634 has merged into rs59139146 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCACCA>-,CCA,CCACCACCA,CCACCACCACCA [Show Flanks]
Chromosome:: 1:177165807 (GRCh38)
1:177134943 (GRCh37)
Canonical SPDI:: NC_000001.11:177165792:CACCACCACCACCACCACCA:CACCACCACCACCA,NC_000001.11:177165792:CACCACCACCACCACCACCA:CACCACCACCACCACCA,NC_000001.11:177165792:CACCACCACCACCACCACCA:CACCACCACCACCACCACCACCA,NC_000001.11:177165792:CACCACCACCACCACCACCA:CACCACCACCACCACCACCACCACCA
Gene:: ASTN1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACCACCACCACCACCACCACCA=0./0 (ALFA)
-=0.03/18 (NorthernSweden)
-=0.03103/139 (Estonian)
-=0.04153/154 (TWINSUK)
-=0.04411/170 (ALSPAC)
-=0.0481/48 (GoNL)
-=0.05/2 (GENOME_DK)
-=0.18056/39 (Vietnamese)
-=0.18941/347 (Korea1K)
-=0.20253/1014 (1000Genomes)
-=0.21556/3613 (TOMMO)
HGVS:: NC_000001.11:g.177165795CCA[4], NC_000001.11:g.177165795CCA[5], NC_000001.11:g.177165795CCA[7], NC_000001.11:g.177165795CCA[8], NC_000001.10:g.177134931CCA[4], NC_000001.10:g.177134931CCA[5], NC_000001.10:g.177134931CCA[7], NC_000001.10:g.177134931CCA[8]

Select item 14915607294.

rs1491560729 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:177149135 (GRCh38)
1:177118271 (GRCh37)
Canonical SPDI:: NC_000001.11:177149134:CA:
Gene:: ASTN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000001.11:g.177149135_177149136del, NC_000001.10:g.177118271_177118272del

Select item 14915482055.

rs1491548205 has merged into rs1491188993 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>-,TATA [Show Flanks]
Chromosome:: 1:177149302 (GRCh38)
1:177118438 (GRCh37)
Canonical SPDI:: NC_000001.11:177149293:TATATATATA:TATATATA,NC_000001.11:177149293:TATATATATA:TATATATATATA
Gene:: ASTN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATA=0./0 (ALFA)
-=0.00009/1 (TOMMO)
-=0.00069/1 (Korea1K)
HGVS:: NC_000001.11:g.177149294TA[4], NC_000001.11:g.177149294TA[6], NC_000001.10:g.177118430TA[4], NC_000001.10:g.177118430TA[6]

Select item 14915456346.

rs1491545634 has merged into rs35968661 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT [Show Flanks]
Chromosome:: 1:176944090 (GRCh38)
1:176913226 (GRCh37)
Canonical SPDI:: NC_000001.11:176944079:TTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000001.11:176944079:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:176944079:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:176944079:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:176944079:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:176944079:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:176944079:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT
Gene:: ASTN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
-=0.4319/2163 (1000Genomes)
HGVS:: NC_000001.11:g.176944090_176944094del, NC_000001.11:g.176944091_176944094del, NC_000001.11:g.176944092_176944094del, NC_000001.11:g.176944093_176944094del, NC_000001.11:g.176944094del, NC_000001.11:g.176944094dup, NC_000001.11:g.176944093_176944094dup, NC_000001.10:g.176913226_176913230del, NC_000001.10:g.176913227_176913230del, NC_000001.10:g.176913228_176913230del, NC_000001.10:g.176913229_176913230del, NC_000001.10:g.176913230del, NC_000001.10:g.176913230dup, NC_000001.10:g.176913229_176913230dup

Select item 14915014157.

rs1491501415 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 1:177011693 (GRCh38)
1:176980829 (GRCh37)
Canonical SPDI:: NC_000001.11:177011691:ATA:A
Gene:: ASTN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
-=0.000156/1 (1000Genomes)
HGVS:: NC_000001.11:g.177011693_177011694del, NC_000001.10:g.176980829_176980830del

Select item 14914736058.

rs1491473605 has merged into rs201792392 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>-,G,GGG [Show Flanks]
Chromosome:: 1:177142909 (GRCh38)
1:177112045 (GRCh37)
Canonical SPDI:: NC_000001.11:177142903:GGGGGGG:GGGGG,NC_000001.11:177142903:GGGGGGG:GGGGGG,NC_000001.11:177142903:GGGGGGG:GGGGGGGG
Gene:: ASTN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGG=0.00031/5 (ALFA)
-=0.04002/73 (Korea1K)
-=0.04034/661 (TOMMO)
HGVS:: NC_000001.11:g.177142909_177142910del, NC_000001.11:g.177142910del, NC_000001.11:g.177142910dup, NC_000001.10:g.177112045_177112046del, NC_000001.10:g.177112046del, NC_000001.10:g.177112046dup

Select item 14914704169.

rs1491470416 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTTT,CTTTTCTTT [Show Flanks]
Chromosome:: 1:177075646 (GRCh38)
1:177044783 (GRCh37)
Canonical SPDI:: NC_000001.11:177075646:TTT:TTTCTTT,NC_000001.11:177075646:TTT:TTTCTTTTCTTT
Gene:: ASTN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTCTTTTCTTT=0./0 (ALFA)
TTTCTTTTC=0.000004/1 (TOPMED)
TTTCTTTTC=0.000038/1 (GnomAD)
TTTC=0.006274/103 (TOMMO)
HGVS:: NC_000001.11:g.177075649_177075650insCTTT, NC_000001.11:g.177075647_177075649TTTCT[2]TT[1], NC_000001.10:g.177044785_177044786insCTTT, NC_000001.10:g.177044783_177044785TTTCT[2]TT[1]

Select item 149146943010.

rs1491469430 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:176922556 (GRCh38)
1:176891692 (GRCh37)
Canonical SPDI:: NC_000001.11:176922555:CA:
Gene:: ASTN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000001.11:g.176922556_176922557del, NC_000001.10:g.176891692_176891693del

Select item 149146660411.

rs1491466604 [Homo sapiens]

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

Select item 149144982612.

rs1491449826 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TGCG,TGTGCG,TGTGTGCG,TGTGTGTGCG,TGTGTGTGTGCG [Show Flanks]
Chromosome:: 1:177033156 (GRCh38)
1:177002293 (GRCh37)
Canonical SPDI:: NC_000001.11:177033156:G:GTGCG,NC_000001.11:177033156:G:GTGTGCG,NC_000001.11:177033156:G:GTGTGTGCG,NC_000001.11:177033156:G:GTGTGTGTGCG,NC_000001.11:177033156:G:GTGTGTGTGTGCG
Gene:: ASTN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGCG=0./0 (ALFA)
HGVS:: NC_000001.11:g.177033157_177033158insTGCG, NC_000001.11:g.177033157GT[2]GCG[1], NC_000001.11:g.177033157GT[3]GCG[1], NC_000001.11:g.177033157GT[4]GCG[1], NC_000001.11:g.177033157GT[5]GCG[1], NC_000001.10:g.177002293_177002294insTGCG, NC_000001.10:g.177002293GT[2]GCG[1], NC_000001.10:g.177002293GT[3]GCG[1], NC_000001.10:g.177002293GT[4]GCG[1], NC_000001.10:g.177002293GT[5]GCG[1]

Select item 149141304813.

rs1491413048 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 1:177090032 (GRCh38)
1:177059169 (GRCh37)
Canonical SPDI:: NC_000001.11:177090032::A
Gene:: ASTN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000447/2 (ALFA)
A=0.000537/75 (GnomAD)
A=0.000625/4 (1000Genomes)
HGVS:: NC_000001.11:g.177090032_177090033insA, NC_000001.10:g.177059168_177059169insA

Select item 149140231614.

rs1491402316 has merged into rs386368806 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA [Show Flanks]
Chromosome:: 1:176988332 (GRCh38)
1:176957468 (GRCh37)
Canonical SPDI:: NC_000001.11:176988317:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:176988317:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:176988317:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:176988317:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:176988317:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:176988317:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:176988317:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:176988317:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:176988317:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
Gene:: ASTN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
AAAAA=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.176988332_176988333del, NC_000001.11:g.176988333del, NC_000001.11:g.176988333dup, NC_000001.11:g.176988332_176988333dup, NC_000001.11:g.176988331_176988333dup, NC_000001.11:g.176988330_176988333dup, NC_000001.11:g.176988329_176988333dup, NC_000001.11:g.176988328_176988333dup, NC_000001.11:g.176988327_176988333dup, NC_000001.10:g.176957468_176957469del, NC_000001.10:g.176957469del, NC_000001.10:g.176957469dup, NC_000001.10:g.176957468_176957469dup, NC_000001.10:g.176957467_176957469dup, NC_000001.10:g.176957466_176957469dup, NC_000001.10:g.176957465_176957469dup, NC_000001.10:g.176957464_176957469dup, NC_000001.10:g.176957463_176957469dup

Select item 149138913115.

rs1491389131 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 1:177011692 (GRCh38)
1:176980829 (GRCh37)
Canonical SPDI:: NC_000001.11:177011692:T:TT
Gene:: ASTN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000001.11:g.177011693dup, NC_000001.10:g.176980829dup

Select item 149138858016.

rs1491388580 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 1:177149293 (GRCh38)
1:177118429 (GRCh37)
Canonical SPDI:: NC_000001.11:177149292:GT:
Gene:: ASTN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00506/60 (ALFA)
-=0.00052/43 (GnomAD)
HGVS:: NC_000001.11:g.177149293_177149294del, NC_000001.10:g.177118429_177118430del

Select item 149138377617.

rs1491383776 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATATATATAGT [Show Flanks]
Chromosome:: 1:177149135 (GRCh38)
1:177118272 (GRCh37)
Canonical SPDI:: NC_000001.11:177149135:ATATATATAGT:ATATATATAGTATATATATAGT
Gene:: ASTN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ATATATATAGTATATATATAGT=0./0 (ALFA)
ATATATATAGT=0.00002/2 (GnomAD)
HGVS:: NC_000001.11:g.177149136_177149146dup, NC_000001.10:g.177118272_177118282dup

Select item 149137072118.

rs1491370721 has merged into rs1466743755 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>-,GAGA [Show Flanks]
Chromosome:: 1:176985897 (GRCh38)
1:176955033 (GRCh37)
Canonical SPDI:: NC_000001.11:176985895:AGA:A,NC_000001.11:176985895:AGA:AGAGA
Gene:: ASTN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGA=0./0 (ALFA)
AG=0.00011/2 (TOMMO)
HGVS:: NC_000001.11:g.176985897_176985898del, NC_000001.11:g.176985897_176985898dup, NC_000001.10:g.176955033_176955034del, NC_000001.10:g.176955033_176955034dup

Select item 149136993119.

rs1491369931 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AA [Show Flanks]
Chromosome:: 1:177149346 (GRCh38)
1:177118483 (GRCh37)
Canonical SPDI:: NC_000001.11:177149346:A:AAA
Gene:: ASTN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AAA=0./0 (ALFA)
HGVS:: NC_000001.11:g.177149347_177149348insAA, NC_000001.10:g.177118483_177118484insAA

Select item 149136340020.

rs1491363400 has merged into rs1297817646 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGAGAG>-,AG,AGAG,AGAGAGAG [Show Flanks]
Chromosome:: 1:177008470 (GRCh38)
1:176977606 (GRCh37)
Canonical SPDI:: NC_000001.11:177008461:AGAGAGAGAGAGAG:AGAGAGAG,NC_000001.11:177008461:AGAGAGAGAGAGAG:AGAGAGAGAG,NC_000001.11:177008461:AGAGAGAGAGAGAG:AGAGAGAGAGAG,NC_000001.11:177008461:AGAGAGAGAGAGAG:AGAGAGAGAGAGAGAG
Gene:: ASTN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGAGAGAG=0./0 (ALFA)
-=0.00078/5 (1000Genomes)
HGVS:: NC_000001.11:g.177008462AG[4], NC_000001.11:g.177008462AG[5], NC_000001.11:g.177008462AG[6], NC_000001.11:g.177008462AG[8], NC_000001.10:g.176977598AG[4], NC_000001.10:g.176977598AG[5], NC_000001.10:g.176977598AG[6], NC_000001.10:g.176977598AG[8]

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