SNP Links for Nucleotide (Select 209977017) - SNP

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Select item 14915733461.

rs1491573346 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:201729879 (GRCh38)
2:202594602 (GRCh37)
Canonical SPDI:: NC_000002.12:201729878:CA:
Gene:: ALS2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00405/48 (ALFA)
-=0.00157/44 (TOMMO)
HGVS:: NC_000002.12:g.201729879_201729880del, NC_000002.11:g.202594602_202594603del, NG_008775.1:g.56293_56294del

Select item 14915607412.

rs1491560741 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CG,CGCG,CGCGCG [Show Flanks]
Chromosome:: 2:201758761 (GRCh38)
2:202623485 (GRCh37)
Canonical SPDI:: NC_000002.12:201758761:G:GCG,NC_000002.12:201758761:G:GCGCG,NC_000002.12:201758761:G:GCGCGCG
Gene:: ALS2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: GC=0.00011/3 (TOMMO)
HGVS:: NC_000002.12:g.201758762_201758763insCG, NC_000002.12:g.201758762_201758763insCGCG, NC_000002.12:g.201758763CG[3], NC_000002.11:g.202623485_202623486insCG, NC_000002.11:g.202623485_202623486insCGCG, NC_000002.11:g.202623486CG[3], NG_008775.1:g.27411_27412insGC, NG_008775.1:g.27411_27412insGCGC, NG_008775.1:g.27412GC[3]

Select item 14915552633.

rs1491555263 has merged into rs775648737 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 2:201758778 (GRCh38)
2:202623501 (GRCh37)
Canonical SPDI:: NC_000002.12:201758760:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000002.12:201758760:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000002.12:201758760:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000002.12:201758760:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:201758760:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:201758760:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:201758760:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:201758760:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:201758760:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:201758760:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:201758760:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:201758760:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:201758760:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:201758760:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: ALS2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGTGTGT=0./0 (ALFA)
TGTGTGTGTG=0.1883/113 (NorthernSweden)
HGVS:: NC_000002.12:g.201758762GT[8], NC_000002.12:g.201758762GT[9], NC_000002.12:g.201758762GT[10], NC_000002.12:g.201758762GT[11], NC_000002.12:g.201758762GT[13], NC_000002.12:g.201758762GT[14], NC_000002.12:g.201758762GT[15], NC_000002.12:g.201758762GT[16], NC_000002.12:g.201758762GT[17], NC_000002.12:g.201758762GT[18], NC_000002.12:g.201758762GT[19], NC_000002.12:g.201758762GT[20], NC_000002.12:g.201758762GT[21], NC_000002.12:g.201758762GT[22], NC_000002.11:g.202623485GT[8], NC_000002.11:g.202623485GT[9], NC_000002.11:g.202623485GT[10], NC_000002.11:g.202623485GT[11], NC_000002.11:g.202623485GT[13], NC_000002.11:g.202623485GT[14], NC_000002.11:g.202623485GT[15], NC_000002.11:g.202623485GT[16], NC_000002.11:g.202623485GT[17], NC_000002.11:g.202623485GT[18], NC_000002.11:g.202623485GT[19], NC_000002.11:g.202623485GT[20], NC_000002.11:g.202623485GT[21], NC_000002.11:g.202623485GT[22], NG_008775.1:g.27389CA[8], NG_008775.1:g.27389CA[9], NG_008775.1:g.27389CA[10], NG_008775.1:g.27389CA[11], NG_008775.1:g.27389CA[13], NG_008775.1:g.27389CA[14], NG_008775.1:g.27389CA[15], NG_008775.1:g.27389CA[16], NG_008775.1:g.27389CA[17], NG_008775.1:g.27389CA[18], NG_008775.1:g.27389CA[19], NG_008775.1:g.27389CA[20], NG_008775.1:g.27389CA[21], NG_008775.1:g.27389CA[22]

Select item 14915246314.

rs1491524631 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 2:201772850 (GRCh38)
2:202637573 (GRCh37)
Canonical SPDI:: NC_000002.12:201772849:AT:
Gene:: ALS2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000002.12:g.201772850_201772851del, NC_000002.11:g.202637573_202637574del, NG_008775.1:g.13322_13323del

Select item 14915188885.

rs1491518888 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 2:201758760 (GRCh38)
2:202623483 (GRCh37)
Canonical SPDI:: NC_000002.12:201758759:AT:
Gene:: ALS2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000445/6 (ALFA)
-=0.000729/89 (GnomAD)
-=0.003505/59 (TOMMO)
-=0.017467/32 (Korea1K)
HGVS:: NC_000002.12:g.201758760_201758761del, NC_000002.11:g.202623483_202623484del, NG_008775.1:g.27412_27413del

Select item 14915018376.

rs1491501837 [Homo sapiens]

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

Select item 14914481637.

rs1491448163 [Homo sapiens]

Variant type:: INS
Alleles:: ->G,GTGTGTGTG [Show Flanks]
Chromosome:: 2:201758785 (GRCh38)
2:202623509 (GRCh37)
Canonical SPDI:: NC_000002.12:201758785::G,NC_000002.12:201758785::GTGTGTGTG
Gene:: ALS2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000122/2 (ALFA)
GTGTGTGTG=0.000008/2 (TOPMED)
G=0.000319/5 (TOMMO)
G=0.010618/68 (1000Genomes)
HGVS:: NC_000002.12:g.201758785_201758786insG, NC_000002.12:g.201758785_201758786insGTGTGTGTG, NC_000002.11:g.202623508_202623509insG, NC_000002.11:g.202623508_202623509insGTGTGTGTG, NG_008775.1:g.27387_27388insC, NG_008775.1:g.27387_27388insCACACACAC

Select item 14913887848.

rs1491388784 has merged into rs35065446 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:201729889 (GRCh38)
2:202594612 (GRCh37)
Canonical SPDI:: NC_000002.12:201729879:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000002.12:201729879:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000002.12:201729879:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:201729879:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:201729879:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:201729879:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:201729879:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:201729879:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:201729879:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:201729879:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:201729879:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:201729879:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:201729879:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:201729879:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:201729879:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:201729879:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:201729879:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:201729879:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:201729879:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:201729879:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:201729879:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:201729879:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ALS2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000002.12:g.201729889_201729903del, NC_000002.12:g.201729890_201729903del, NC_000002.12:g.201729891_201729903del, NC_000002.12:g.201729892_201729903del, NC_000002.12:g.201729893_201729903del, NC_000002.12:g.201729894_201729903del, NC_000002.12:g.201729895_201729903del, NC_000002.12:g.201729896_201729903del, NC_000002.12:g.201729897_201729903del, NC_000002.12:g.201729898_201729903del, NC_000002.12:g.201729900_201729903del, NC_000002.12:g.201729901_201729903del, NC_000002.12:g.201729902_201729903del, NC_000002.12:g.201729903del, NC_000002.12:g.201729903dup, NC_000002.12:g.201729902_201729903dup, NC_000002.12:g.201729901_201729903dup, NC_000002.12:g.201729900_201729903dup, NC_000002.12:g.201729899_201729903dup, NC_000002.12:g.201729898_201729903dup, NC_000002.12:g.201729896_201729903dup, NC_000002.12:g.201729895_201729903dup, NC_000002.11:g.202594612_202594626del, NC_000002.11:g.202594613_202594626del, NC_000002.11:g.202594614_202594626del, NC_000002.11:g.202594615_202594626del, NC_000002.11:g.202594616_202594626del, NC_000002.11:g.202594617_202594626del, NC_000002.11:g.202594618_202594626del, NC_000002.11:g.202594619_202594626del, NC_000002.11:g.202594620_202594626del, NC_000002.11:g.202594621_202594626del, NC_000002.11:g.202594623_202594626del, NC_000002.11:g.202594624_202594626del, NC_000002.11:g.202594625_202594626del, NC_000002.11:g.202594626del, NC_000002.11:g.202594626dup, NC_000002.11:g.202594625_202594626dup, NC_000002.11:g.202594624_202594626dup, NC_000002.11:g.202594623_202594626dup, NC_000002.11:g.202594622_202594626dup, NC_000002.11:g.202594621_202594626dup, NC_000002.11:g.202594619_202594626dup, NC_000002.11:g.202594618_202594626dup, NG_008775.1:g.56279_56293del, NG_008775.1:g.56280_56293del, NG_008775.1:g.56281_56293del, NG_008775.1:g.56282_56293del, NG_008775.1:g.56283_56293del, NG_008775.1:g.56284_56293del, NG_008775.1:g.56285_56293del, NG_008775.1:g.56286_56293del, NG_008775.1:g.56287_56293del, NG_008775.1:g.56288_56293del, NG_008775.1:g.56290_56293del, NG_008775.1:g.56291_56293del, NG_008775.1:g.56292_56293del, NG_008775.1:g.56293del, NG_008775.1:g.56293dup, NG_008775.1:g.56292_56293dup, NG_008775.1:g.56291_56293dup, NG_008775.1:g.56290_56293dup, NG_008775.1:g.56289_56293dup, NG_008775.1:g.56288_56293dup, NG_008775.1:g.56286_56293dup, NG_008775.1:g.56285_56293dup

Select item 14913613559.

rs1491361355 has merged into rs11308291 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,AA,AAA,AAAAA,AAAAAA,AAAAAAA [Show Flanks]
Chromosome:: 2:201749229 (GRCh38)
2:202613952 (GRCh37)
Canonical SPDI:: NC_000002.12:201749218:AAAAAAAAAAAAAA:AAAAAAAAAA,NC_000002.12:201749218:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:201749218:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:201749218:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:201749218:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:201749218:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA
Gene:: ALS2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.4928/2168 (1000Genomes)
HGVS:: NC_000002.12:g.201749229_201749232del, NC_000002.12:g.201749231_201749232del, NC_000002.12:g.201749232del, NC_000002.12:g.201749232dup, NC_000002.12:g.201749231_201749232dup, NC_000002.12:g.201749230_201749232dup, NC_000002.11:g.202613952_202613955del, NC_000002.11:g.202613954_202613955del, NC_000002.11:g.202613955del, NC_000002.11:g.202613955dup, NC_000002.11:g.202613954_202613955dup, NC_000002.11:g.202613953_202613955dup, NG_008775.1:g.36951_36954del, NG_008775.1:g.36953_36954del, NG_008775.1:g.36954del, NG_008775.1:g.36954dup, NG_008775.1:g.36953_36954dup, NG_008775.1:g.36952_36954dup

Select item 149131656410.

rs1491316564 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 2:201761843 (GRCh38)
2:202626566 (GRCh37)
Canonical SPDI:: NC_000002.12:201761841:AGA:A
Gene:: ALS2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.201761843_201761844del, NC_000002.11:g.202626566_202626567del, NG_008775.1:g.24330_24331del

Select item 149128894911.

rs1491288949 [Homo sapiens]

Variant type:: DEL
Alleles:: TC>- [Show Flanks]
Chromosome:: 2:201772872 (GRCh38)
2:202637595 (GRCh37)
Canonical SPDI:: NC_000002.12:201772871:TC:
Gene:: ALS2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00159/26 (ALFA)
HGVS:: NC_000002.12:g.201772872_201772873del, NC_000002.11:g.202637595_202637596del, NG_008775.1:g.13300_13301del

Select item 149128331412.

rs1491283314 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:201739235 (GRCh38)
2:202603958 (GRCh37)
Canonical SPDI:: NC_000002.12:201739234:CA:
Gene:: ALS2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00025/3 (ALFA)
HGVS:: NC_000002.12:g.201739235_201739236del, NC_000002.11:g.202603958_202603959del, NG_008775.1:g.46937_46938del

Select item 149122821413.

rs1491228214 has merged into rs35807671 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:201713142 (GRCh38)
2:202577865 (GRCh37)
Canonical SPDI:: NC_000002.12:201713133:TTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000002.12:201713133:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:201713133:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:201713133:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:201713133:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:201713133:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:201713133:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:201713133:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:201713133:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:201713133:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:201713133:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:201713133:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201713133:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201713133:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201713133:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201713133:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201713133:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201713133:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201713133:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201713133:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201713133:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201713133:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201713133:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201713133:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201713133:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201713133:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201713133:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201713133:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ALS2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
HGVS:: NC_000002.12:g.201713142_201713153del, NC_000002.12:g.201713144_201713153del, NC_000002.12:g.201713145_201713153del, NC_000002.12:g.201713146_201713153del, NC_000002.12:g.201713147_201713153del, NC_000002.12:g.201713148_201713153del, NC_000002.12:g.201713149_201713153del, NC_000002.12:g.201713150_201713153del, NC_000002.12:g.201713151_201713153del, NC_000002.12:g.201713152_201713153del, NC_000002.12:g.201713153del, NC_000002.12:g.201713153dup, NC_000002.12:g.201713152_201713153dup, NC_000002.12:g.201713151_201713153dup, NC_000002.12:g.201713150_201713153dup, NC_000002.12:g.201713149_201713153dup, NC_000002.12:g.201713148_201713153dup, NC_000002.12:g.201713147_201713153dup, NC_000002.12:g.201713146_201713153dup, NC_000002.12:g.201713145_201713153dup, NC_000002.12:g.201713144_201713153dup, NC_000002.12:g.201713143_201713153dup, NC_000002.12:g.201713142_201713153dup, NC_000002.12:g.201713141_201713153dup, NC_000002.12:g.201713140_201713153dup, NC_000002.12:g.201713136_201713153dup, NC_000002.12:g.201713153_201713154insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.201713153_201713154insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.202577865_202577876del, NC_000002.11:g.202577867_202577876del, NC_000002.11:g.202577868_202577876del, NC_000002.11:g.202577869_202577876del, NC_000002.11:g.202577870_202577876del, NC_000002.11:g.202577871_202577876del, NC_000002.11:g.202577872_202577876del, NC_000002.11:g.202577873_202577876del, NC_000002.11:g.202577874_202577876del, NC_000002.11:g.202577875_202577876del, NC_000002.11:g.202577876del, NC_000002.11:g.202577876dup, NC_000002.11:g.202577875_202577876dup, NC_000002.11:g.202577874_202577876dup, NC_000002.11:g.202577873_202577876dup, NC_000002.11:g.202577872_202577876dup, NC_000002.11:g.202577871_202577876dup, NC_000002.11:g.202577870_202577876dup, NC_000002.11:g.202577869_202577876dup, NC_000002.11:g.202577868_202577876dup, NC_000002.11:g.202577867_202577876dup, NC_000002.11:g.202577866_202577876dup, NC_000002.11:g.202577865_202577876dup, NC_000002.11:g.202577864_202577876dup, NC_000002.11:g.202577863_202577876dup, NC_000002.11:g.202577859_202577876dup, NC_000002.11:g.202577876_202577877insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.202577876_202577877insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008775.1:g.73028_73039del, NG_008775.1:g.73030_73039del, NG_008775.1:g.73031_73039del, NG_008775.1:g.73032_73039del, NG_008775.1:g.73033_73039del, NG_008775.1:g.73034_73039del, NG_008775.1:g.73035_73039del, NG_008775.1:g.73036_73039del, NG_008775.1:g.73037_73039del, NG_008775.1:g.73038_73039del, NG_008775.1:g.73039del, NG_008775.1:g.73039dup, NG_008775.1:g.73038_73039dup, NG_008775.1:g.73037_73039dup, NG_008775.1:g.73036_73039dup, NG_008775.1:g.73035_73039dup, NG_008775.1:g.73034_73039dup, NG_008775.1:g.73033_73039dup, NG_008775.1:g.73032_73039dup, NG_008775.1:g.73031_73039dup, NG_008775.1:g.73030_73039dup, NG_008775.1:g.73029_73039dup, NG_008775.1:g.73028_73039dup, NG_008775.1:g.73027_73039dup, NG_008775.1:g.73026_73039dup, NG_008775.1:g.73022_73039dup, NG_008775.1:g.73039_73040insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_008775.1:g.73039_73040insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 149118951914.

rs1491189519 has merged into rs34578117 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:201771055 (GRCh38)
2:202635778 (GRCh37)
Canonical SPDI:: NC_000002.12:201771042:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:201771042:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:201771042:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:201771042:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:201771042:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:201771042:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:201771042:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:201771042:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:201771042:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:201771042:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201771042:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201771042:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201771042:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201771042:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTT
Gene:: ALS2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
TT=0.3313/1659 (1000Genomes)
HGVS:: NC_000002.12:g.201771055_201771063del, NC_000002.12:g.201771056_201771063del, NC_000002.12:g.201771057_201771063del, NC_000002.12:g.201771058_201771063del, NC_000002.12:g.201771059_201771063del, NC_000002.12:g.201771060_201771063del, NC_000002.12:g.201771061_201771063del, NC_000002.12:g.201771062_201771063del, NC_000002.12:g.201771063del, NC_000002.12:g.201771063dup, NC_000002.12:g.201771062_201771063dup, NC_000002.12:g.201771061_201771063dup, NC_000002.12:g.201771060_201771063dup, NC_000002.12:g.201771043_201771063T[29]GTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.202635778_202635786del, NC_000002.11:g.202635779_202635786del, NC_000002.11:g.202635780_202635786del, NC_000002.11:g.202635781_202635786del, NC_000002.11:g.202635782_202635786del, NC_000002.11:g.202635783_202635786del, NC_000002.11:g.202635784_202635786del, NC_000002.11:g.202635785_202635786del, NC_000002.11:g.202635786del, NC_000002.11:g.202635786dup, NC_000002.11:g.202635785_202635786dup, NC_000002.11:g.202635784_202635786dup, NC_000002.11:g.202635783_202635786dup, NC_000002.11:g.202635766_202635786T[29]GTTTTTTTTTTTTTTTTTTTTTT[1], NG_008775.1:g.15122_15130del, NG_008775.1:g.15123_15130del, NG_008775.1:g.15124_15130del, NG_008775.1:g.15125_15130del, NG_008775.1:g.15126_15130del, NG_008775.1:g.15127_15130del, NG_008775.1:g.15128_15130del, NG_008775.1:g.15129_15130del, NG_008775.1:g.15130del, NG_008775.1:g.15130dup, NG_008775.1:g.15129_15130dup, NG_008775.1:g.15128_15130dup, NG_008775.1:g.15127_15130dup, NG_008775.1:g.15110_15130A[22]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]

Select item 149109106115.

rs1491091061 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TATAAA,TATATAAA,TATATATAAA [Show Flanks]
Chromosome:: 2:201706554 (GRCh38)
2:202571278 (GRCh37)
Canonical SPDI:: NC_000002.12:201706554:A:ATATAAA,NC_000002.12:201706554:A:ATATATAAA,NC_000002.12:201706554:A:ATATATATAAA
Gene:: ALS2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATAAA=0./0 (ALFA)
HGVS:: NC_000002.12:g.201706555AT[2]AAA[1], NC_000002.12:g.201706555AT[3]AAA[1], NC_000002.12:g.201706555AT[4]AAA[1], NC_000002.11:g.202571278AT[2]AAA[1], NC_000002.11:g.202571278AT[3]AAA[1], NC_000002.11:g.202571278AT[4]AAA[1], NG_008775.1:g.79618_79619insTTATAT, NG_008775.1:g.79618_79619insTTATATAT, NG_008775.1:g.79618_79619insTTATATATAT

Select item 149109097716.

rs1491090977 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>- [Show Flanks]
Chromosome:: 2:201758786 (GRCh38)
2:202623509 (GRCh37)
Canonical SPDI:: NC_000002.12:201758784:TTT:T
Gene:: ALS2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000029/4 (GnomAD)
-=0.000042/11 (TOPMED)
HGVS:: NC_000002.12:g.201758786_201758787del, NC_000002.11:g.202623509_202623510del, NG_008775.1:g.27387_27388del

Select item 149106363017.

rs1491063630 has merged into rs11308291 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,AA,AAA,AAAAA,AAAAAA,AAAAAAA [Show Flanks]
Chromosome:: 2:201749229 (GRCh38)
2:202613952 (GRCh37)
Canonical SPDI:: NC_000002.12:201749218:AAAAAAAAAAAAAA:AAAAAAAAAA,NC_000002.12:201749218:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:201749218:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:201749218:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:201749218:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:201749218:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA
Gene:: ALS2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.4928/2168 (1000Genomes)
HGVS:: NC_000002.12:g.201749229_201749232del, NC_000002.12:g.201749231_201749232del, NC_000002.12:g.201749232del, NC_000002.12:g.201749232dup, NC_000002.12:g.201749231_201749232dup, NC_000002.12:g.201749230_201749232dup, NC_000002.11:g.202613952_202613955del, NC_000002.11:g.202613954_202613955del, NC_000002.11:g.202613955del, NC_000002.11:g.202613955dup, NC_000002.11:g.202613954_202613955dup, NC_000002.11:g.202613953_202613955dup, NG_008775.1:g.36951_36954del, NG_008775.1:g.36953_36954del, NG_008775.1:g.36954del, NG_008775.1:g.36954dup, NG_008775.1:g.36953_36954dup, NG_008775.1:g.36952_36954dup

Select item 149106034418.

rs1491060344 has merged into rs35608860 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,AA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:201767875 (GRCh38)
2:202632598 (GRCh37)
Canonical SPDI:: NC_000002.12:201767866:AAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000002.12:201767866:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000002.12:201767866:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:201767866:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:201767866:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:201767866:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:201767866:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:201767866:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:201767866:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:201767866:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:201767866:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:201767866:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ALS2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
-=0.375/3 (KOREAN)
-=0.4776/2392 (1000Genomes)
HGVS:: NC_000002.12:g.201767875_201767886del, NC_000002.12:g.201767877_201767886del, NC_000002.12:g.201767881_201767886del, NC_000002.12:g.201767882_201767886del, NC_000002.12:g.201767883_201767886del, NC_000002.12:g.201767884_201767886del, NC_000002.12:g.201767885_201767886del, NC_000002.12:g.201767886del, NC_000002.12:g.201767886dup, NC_000002.12:g.201767885_201767886dup, NC_000002.12:g.201767884_201767886dup, NC_000002.12:g.201767882_201767886dup, NC_000002.11:g.202632598_202632609del, NC_000002.11:g.202632600_202632609del, NC_000002.11:g.202632604_202632609del, NC_000002.11:g.202632605_202632609del, NC_000002.11:g.202632606_202632609del, NC_000002.11:g.202632607_202632609del, NC_000002.11:g.202632608_202632609del, NC_000002.11:g.202632609del, NC_000002.11:g.202632609dup, NC_000002.11:g.202632608_202632609dup, NC_000002.11:g.202632607_202632609dup, NC_000002.11:g.202632605_202632609dup, NG_008775.1:g.18295_18306del, NG_008775.1:g.18297_18306del, NG_008775.1:g.18301_18306del, NG_008775.1:g.18302_18306del, NG_008775.1:g.18303_18306del, NG_008775.1:g.18304_18306del, NG_008775.1:g.18305_18306del, NG_008775.1:g.18306del, NG_008775.1:g.18306dup, NG_008775.1:g.18305_18306dup, NG_008775.1:g.18304_18306dup, NG_008775.1:g.18302_18306dup

Select item 149104825619.

rs1491048256 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 2:201766492 (GRCh38)
2:202631216 (GRCh37)
Canonical SPDI:: NC_000002.12:201766492:AAAAAAA:AAAAAAAA
Gene:: ALS2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AAAAAAAA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.201766499dup, NC_000002.11:g.202631222dup, NG_008775.1:g.19680dup

Select item 149101253720.

rs1491012537 has merged into rs57200737 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA,AAAAA,AAAAAA [Show Flanks]
Chromosome:: 2:201767717 (GRCh38)
2:202632440 (GRCh37)
Canonical SPDI:: NC_000002.12:201767705:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:201767705:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:201767705:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:201767705:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:201767705:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:201767705:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA
Gene:: ALS2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.12688/489 (ALSPAC)
-=0.12891/478 (TWINSUK)
-=0.2506/1255 (1000Genomes)
HGVS:: NC_000002.12:g.201767717_201767718del, NC_000002.12:g.201767718del, NC_000002.12:g.201767718dup, NC_000002.12:g.201767717_201767718dup, NC_000002.12:g.201767716_201767718dup, NC_000002.12:g.201767715_201767718dup, NC_000002.11:g.202632440_202632441del, NC_000002.11:g.202632441del, NC_000002.11:g.202632441dup, NC_000002.11:g.202632440_202632441dup, NC_000002.11:g.202632439_202632441dup, NC_000002.11:g.202632438_202632441dup, NG_008775.1:g.18466_18467del, NG_008775.1:g.18467del, NG_008775.1:g.18467dup, NG_008775.1:g.18466_18467dup, NG_008775.1:g.18465_18467dup, NG_008775.1:g.18464_18467dup

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