SNP Links for Gene (Select 51321) - SNP

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Select item 14915728811.

rs1491572881 has merged into rs1290967627 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATAT>-,AT,ATATAT,ATATATATATATATAT,ATATATATATATATATATAT,ATATATATATATATATATATATAT,ATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATAT [Show Flanks]
Chromosome:: 17:68209606 (GRCh38)
17:66205747 (GRCh37)
Canonical SPDI:: NC_000017.11:68209604:TATAT:T,NC_000017.11:68209604:TATAT:TAT,NC_000017.11:68209604:TATAT:TATATAT,NC_000017.11:68209604:TATAT:TATATATATATATATAT,NC_000017.11:68209604:TATAT:TATATATATATATATATATAT,NC_000017.11:68209604:TATAT:TATATATATATATATATATATATAT,NC_000017.11:68209604:TATAT:TATATATATATATATATATATATATATAT,NC_000017.11:68209604:TATAT:TATATATATATATATATATATATATATATATATAT,NC_000017.11:68209604:TATAT:TATATATATATATATATATATATATATATATATATATAT
Gene:: AMZ2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TAT=0./0 (ALFA)
HGVS:: NC_000017.11:g.68209606_68209609del, NC_000017.11:g.68209606AT[1], NC_000017.11:g.68209606AT[3], NC_000017.11:g.68209606AT[8], NC_000017.11:g.68209606AT[10], NC_000017.11:g.68209606AT[12], NC_000017.11:g.68209606AT[14], NC_000017.11:g.68209606AT[17], NC_000017.11:g.68209606AT[19], NC_000017.10:g.66205747_66205750del, NC_000017.10:g.66205747AT[1], NC_000017.10:g.66205747AT[3], NC_000017.10:g.66205747AT[8], NC_000017.10:g.66205747AT[10], NC_000017.10:g.66205747AT[12], NC_000017.10:g.66205747AT[14], NC_000017.10:g.66205747AT[17], NC_000017.10:g.66205747AT[19], NG_051827.1:g.8478_8481del, NG_051827.1:g.8478AT[1], NG_051827.1:g.8478AT[3], NG_051827.1:g.8478AT[8], NG_051827.1:g.8478AT[10], NG_051827.1:g.8478AT[12], NG_051827.1:g.8478AT[14], NG_051827.1:g.8478AT[17], NG_051827.1:g.8478AT[19], NW_003871088.1:g.269617_269620del, NW_003871088.1:g.269617AT[1], NW_003871088.1:g.269617AT[3], NW_003871088.1:g.269617AT[8], NW_003871088.1:g.269617AT[10], NW_003871088.1:g.269617AT[12], NW_003871088.1:g.269617AT[14], NW_003871088.1:g.269617AT[17], NW_003871088.1:g.269617AT[19]

Select item 14915035182.

rs1491503518 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTAT [Show Flanks]
Chromosome:: 17:68209610 (GRCh38)
17:66205752 (GRCh37)
Canonical SPDI:: NC_000017.11:68209610:T:TGTAT
Gene:: AMZ2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TGTAT=0./0 (ALFA)
HGVS:: NC_000017.11:g.68209611_68209612insGTAT, NC_000017.10:g.66205752_66205753insGTAT, NG_051827.1:g.8483_8484insGTAT, NW_003871088.1:g.269622_269623insGTAT

Select item 14914995623.

rs1491499562 has merged into rs533631198 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACA>-,CA,CACACA [Show Flanks]
Chromosome:: 17:68225035 (GRCh38)
17:66221176 (GRCh37)
Canonical SPDI:: NC_000017.11:68225025:ACACACACACACA:ACACACACA,NC_000017.11:68225025:ACACACACACACA:ACACACACACA,NC_000017.11:68225025:ACACACACACACA:ACACACACACACACA
Gene:: AMZ2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACA=0./0 (ALFA)
-=0.000011/3 (TOPMED)
AC=0.000035/1 (TOMMO)
AC=0.005119/3 (NorthernSweden)
HGVS:: NC_000017.11:g.68225027CA[4], NC_000017.11:g.68225027CA[5], NC_000017.11:g.68225027CA[7], NC_000017.10:g.66221168CA[4], NC_000017.10:g.66221168CA[5], NC_000017.10:g.66221168CA[7], NG_051827.1:g.23899CA[4], NG_051827.1:g.23899CA[5], NG_051827.1:g.23899CA[7], NW_003871088.1:g.285038CA[4], NW_003871088.1:g.285038CA[5], NW_003871088.1:g.285038CA[7]

Select item 14913939954.

rs1491393995 has merged into rs10528850 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACA>-,CA,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA [Show Flanks]
Chromosome:: 17:68238600 (GRCh38)
17:66234741 (GRCh37)
Canonical SPDI:: NC_000017.11:68238586:ACACACACACACACACA:ACACACACACACA,NC_000017.11:68238586:ACACACACACACACACA:ACACACACACACACA,NC_000017.11:68238586:ACACACACACACACACA:ACACACACACACACACACA,NC_000017.11:68238586:ACACACACACACACACA:ACACACACACACACACACACA,NC_000017.11:68238586:ACACACACACACACACA:ACACACACACACACACACACACA,NC_000017.11:68238586:ACACACACACACACACA:ACACACACACACACACACACACACA,NC_000017.11:68238586:ACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000017.11:68238586:ACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000017.11:68238586:ACACACACACACACACA:ACACACACACACACACACACACACACACACA,NC_000017.11:68238586:ACACACACACACACACA:ACACACACACACACACACACACACACACACACA
Gene:: AMZ2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACACA=0./0 (ALFA)
HGVS:: NC_000017.11:g.68238588CA[6], NC_000017.11:g.68238588CA[7], NC_000017.11:g.68238588CA[9], NC_000017.11:g.68238588CA[10], NC_000017.11:g.68238588CA[11], NC_000017.11:g.68238588CA[12], NC_000017.11:g.68238588CA[13], NC_000017.11:g.68238588CA[14], NC_000017.11:g.68238588CA[15], NC_000017.11:g.68238588CA[16], NC_000017.10:g.66234729CA[6], NC_000017.10:g.66234729CA[7], NC_000017.10:g.66234729CA[9], NC_000017.10:g.66234729CA[10], NC_000017.10:g.66234729CA[11], NC_000017.10:g.66234729CA[12], NC_000017.10:g.66234729CA[13], NC_000017.10:g.66234729CA[14], NC_000017.10:g.66234729CA[15], NC_000017.10:g.66234729CA[16], NG_051827.1:g.37460CA[6], NG_051827.1:g.37460CA[7], NG_051827.1:g.37460CA[9], NG_051827.1:g.37460CA[10], NG_051827.1:g.37460CA[11], NG_051827.1:g.37460CA[12], NG_051827.1:g.37460CA[13], NG_051827.1:g.37460CA[14], NG_051827.1:g.37460CA[15], NG_051827.1:g.37460CA[16], NW_003871088.1:g.298599CA[6], NW_003871088.1:g.298599CA[7], NW_003871088.1:g.298599CA[9], NW_003871088.1:g.298599CA[10], NW_003871088.1:g.298599CA[11], NW_003871088.1:g.298599CA[12], NW_003871088.1:g.298599CA[13], NW_003871088.1:g.298599CA[14], NW_003871088.1:g.298599CA[15], NW_003871088.1:g.298599CA[16]

Select item 14913370145.

rs1491337014 has merged into rs1224207690 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTT>-,TT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 17:68209634 (GRCh38)
17:66205775 (GRCh37)
Canonical SPDI:: NC_000017.11:68209632:TTTTTTTTTTTTTTT:T,NC_000017.11:68209632:TTTTTTTTTTTTTTT:TTT,NC_000017.11:68209632:TTTTTTTTTTTTTTT:TTTTT,NC_000017.11:68209632:TTTTTTTTTTTTTTT:TTTTTTT,NC_000017.11:68209632:TTTTTTTTTTTTTTT:TTTTTTTT,NC_000017.11:68209632:TTTTTTTTTTTTTTT:TTTTTTTTT,NC_000017.11:68209632:TTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000017.11:68209632:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000017.11:68209632:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:68209632:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:68209632:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:68209632:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:68209632:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:68209632:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:68209632:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:68209632:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000017.11:68209632:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000017.11:68209632:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:68209632:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:68209632:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:68209632:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:68209632:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:68209632:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:68209632:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:68209632:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:68209632:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:68209632:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:68209632:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:68209632:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:68209632:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: AMZ2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTT=0./0 (ALFA)
HGVS:: NC_000017.11:g.68209634_68209647del, NC_000017.11:g.68209636_68209647del, NC_000017.11:g.68209638_68209647del, NC_000017.11:g.68209640_68209647del, NC_000017.11:g.68209641_68209647del, NC_000017.11:g.68209642_68209647del, NC_000017.11:g.68209643_68209647del, NC_000017.11:g.68209644_68209647del, NC_000017.11:g.68209645_68209647del, NC_000017.11:g.68209646_68209647del, NC_000017.11:g.68209647del, NC_000017.11:g.68209647dup, NC_000017.11:g.68209646_68209647dup, NC_000017.11:g.68209645_68209647dup, NC_000017.11:g.68209644_68209647dup, NC_000017.11:g.68209643_68209647dup, NC_000017.11:g.68209642_68209647dup, NC_000017.11:g.68209641_68209647dup, NC_000017.11:g.68209640_68209647dup, NC_000017.11:g.68209638_68209647dup, NC_000017.11:g.68209637_68209647dup, NC_000017.11:g.68209636_68209647dup, NC_000017.11:g.68209635_68209647dup, NC_000017.11:g.68209634_68209647dup, NC_000017.11:g.68209633_68209647dup, NC_000017.11:g.68209647_68209648insTTTTTTTTTTTTTTTT, NC_000017.11:g.68209647_68209648insTTTTTTTTTTTTTTTTT, NC_000017.11:g.68209647_68209648insTTTTTTTTTTTTTTTTTT, NC_000017.11:g.68209647_68209648insTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.68209647_68209648insTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.66205775_66205788del, NC_000017.10:g.66205777_66205788del, NC_000017.10:g.66205779_66205788del, NC_000017.10:g.66205781_66205788del, NC_000017.10:g.66205782_66205788del, NC_000017.10:g.66205783_66205788del, NC_000017.10:g.66205784_66205788del, NC_000017.10:g.66205785_66205788del, NC_000017.10:g.66205786_66205788del, NC_000017.10:g.66205787_66205788del, NC_000017.10:g.66205788del, NC_000017.10:g.66205788dup, NC_000017.10:g.66205787_66205788dup, NC_000017.10:g.66205786_66205788dup, NC_000017.10:g.66205785_66205788dup, NC_000017.10:g.66205784_66205788dup, NC_000017.10:g.66205783_66205788dup, NC_000017.10:g.66205782_66205788dup, NC_000017.10:g.66205781_66205788dup, NC_000017.10:g.66205779_66205788dup, NC_000017.10:g.66205778_66205788dup, NC_000017.10:g.66205777_66205788dup, NC_000017.10:g.66205776_66205788dup, NC_000017.10:g.66205775_66205788dup, NC_000017.10:g.66205774_66205788dup, NC_000017.10:g.66205788_66205789insTTTTTTTTTTTTTTTT, NC_000017.10:g.66205788_66205789insTTTTTTTTTTTTTTTTT, NC_000017.10:g.66205788_66205789insTTTTTTTTTTTTTTTTTT, NC_000017.10:g.66205788_66205789insTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.66205788_66205789insTTTTTTTTTTTTTTTTTTTT, NG_051827.1:g.8506_8519del, NG_051827.1:g.8508_8519del, NG_051827.1:g.8510_8519del, NG_051827.1:g.8512_8519del, NG_051827.1:g.8513_8519del, NG_051827.1:g.8514_8519del, NG_051827.1:g.8515_8519del, NG_051827.1:g.8516_8519del, NG_051827.1:g.8517_8519del, NG_051827.1:g.8518_8519del, NG_051827.1:g.8519del, NG_051827.1:g.8519dup, NG_051827.1:g.8518_8519dup, NG_051827.1:g.8517_8519dup, NG_051827.1:g.8516_8519dup, NG_051827.1:g.8515_8519dup, NG_051827.1:g.8514_8519dup, NG_051827.1:g.8513_8519dup, NG_051827.1:g.8512_8519dup, NG_051827.1:g.8510_8519dup, NG_051827.1:g.8509_8519dup, NG_051827.1:g.8508_8519dup, NG_051827.1:g.8507_8519dup, NG_051827.1:g.8506_8519dup, NG_051827.1:g.8505_8519dup, NG_051827.1:g.8519_8520insTTTTTTTTTTTTTTTT, NG_051827.1:g.8519_8520insTTTTTTTTTTTTTTTTT, NG_051827.1:g.8519_8520insTTTTTTTTTTTTTTTTTT, NG_051827.1:g.8519_8520insTTTTTTTTTTTTTTTTTTT, NG_051827.1:g.8519_8520insTTTTTTTTTTTTTTTTTTTT, NW_003871088.1:g.269645_269658del, NW_003871088.1:g.269647_269658del, NW_003871088.1:g.269649_269658del, NW_003871088.1:g.269651_269658del, NW_003871088.1:g.269652_269658del, NW_003871088.1:g.269653_269658del, NW_003871088.1:g.269654_269658del, NW_003871088.1:g.269655_269658del, NW_003871088.1:g.269656_269658del, NW_003871088.1:g.269657_269658del, NW_003871088.1:g.269658del, NW_003871088.1:g.269658dup, NW_003871088.1:g.269657_269658dup, NW_003871088.1:g.269656_269658dup, NW_003871088.1:g.269655_269658dup, NW_003871088.1:g.269654_269658dup, NW_003871088.1:g.269653_269658dup, NW_003871088.1:g.269652_269658dup, NW_003871088.1:g.269651_269658dup, NW_003871088.1:g.269649_269658dup, NW_003871088.1:g.269648_269658dup, NW_003871088.1:g.269647_269658dup, NW_003871088.1:g.269646_269658dup, NW_003871088.1:g.269645_269658dup, NW_003871088.1:g.269644_269658dup, NW_003871088.1:g.269658_269659insTTTTTTTTTTTTTTTT, NW_003871088.1:g.269658_269659insTTTTTTTTTTTTTTTTT, NW_003871088.1:g.269658_269659insTTTTTTTTTTTTTTTTTT, NW_003871088.1:g.269658_269659insTTTTTTTTTTTTTTTTTTT, NW_003871088.1:g.269658_269659insTTTTTTTTTTTTTTTTTTTT

Select item 14913089406.

rs1491308940 [Homo sapiens]

Variant type:: INS
Alleles:: ->GC [Show Flanks]
Chromosome:: 17:68209605 (GRCh38)
17:66205747 (GRCh37)
Canonical SPDI:: NC_000017.11:68209605::GC
Gene:: AMZ2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GC=0./0 (ALFA)
GC=0.000008/2 (TOPMED)
GC=0.000009/1 (GnomAD)
HGVS:: NC_000017.11:g.68209605_68209606insGC, NC_000017.10:g.66205746_66205747insGC, NG_051827.1:g.8477_8478insGC, NW_003871088.1:g.269616_269617insGC

Select item 14913080517.

rs1491308051 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TGG [Show Flanks]
Chromosome:: 17:68210958 (GRCh38)
17:66207100 (GRCh37)
Canonical SPDI:: NC_000017.11:68210958:GG:GGTGG
Gene:: AMZ2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: GGTGG=0./0 (ALFA)
HGVS:: NC_000017.11:g.68210960_68210961insTGG, NC_000017.10:g.66207101_66207102insTGG, NG_051827.1:g.9832_9833insTGG, NW_003871088.1:g.270971_270972insTGG

Select item 14912824568.

rs1491282456 has merged into rs11284875 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:68217044 (GRCh38)
17:66213185 (GRCh37)
Canonical SPDI:: NC_000017.11:68217032:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:68217032:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:68217032:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:68217032:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:68217032:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:68217032:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:68217032:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:68217032:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:68217032:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:68217032:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: AMZ2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
-=0.1989/111 (NorthernSweden)
-=0.4679/2343 (1000Genomes)
HGVS:: NC_000017.11:g.68217044_68217050del, NC_000017.11:g.68217046_68217050del, NC_000017.11:g.68217047_68217050del, NC_000017.11:g.68217048_68217050del, NC_000017.11:g.68217049_68217050del, NC_000017.11:g.68217050del, NC_000017.11:g.68217050dup, NC_000017.11:g.68217049_68217050dup, NC_000017.11:g.68217048_68217050dup, NC_000017.11:g.68217043_68217050dup, NC_000017.10:g.66213185_66213191del, NC_000017.10:g.66213187_66213191del, NC_000017.10:g.66213188_66213191del, NC_000017.10:g.66213189_66213191del, NC_000017.10:g.66213190_66213191del, NC_000017.10:g.66213191del, NC_000017.10:g.66213191dup, NC_000017.10:g.66213190_66213191dup, NC_000017.10:g.66213189_66213191dup, NC_000017.10:g.66213184_66213191dup, NG_051827.1:g.15916_15922del, NG_051827.1:g.15918_15922del, NG_051827.1:g.15919_15922del, NG_051827.1:g.15920_15922del, NG_051827.1:g.15921_15922del, NG_051827.1:g.15922del, NG_051827.1:g.15922dup, NG_051827.1:g.15921_15922dup, NG_051827.1:g.15920_15922dup, NG_051827.1:g.15915_15922dup, NW_003871088.1:g.277055_277061del, NW_003871088.1:g.277057_277061del, NW_003871088.1:g.277058_277061del, NW_003871088.1:g.277059_277061del, NW_003871088.1:g.277060_277061del, NW_003871088.1:g.277061del, NW_003871088.1:g.277061dup, NW_003871088.1:g.277060_277061dup, NW_003871088.1:g.277059_277061dup, NW_003871088.1:g.277054_277061dup

Select item 14912769599.

rs1491276959 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 17:68225026 (GRCh38)
17:66221168 (GRCh37)
Canonical SPDI:: NC_000017.11:68225026::G
Gene:: AMZ2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/1 (GnomAD)
HGVS:: NC_000017.11:g.68225026_68225027insG, NC_000017.10:g.66221167_66221168insG, NG_051827.1:g.23898_23899insG, NW_003871088.1:g.285037_285038insG

Select item 149126514610.

rs1491265146 has merged into rs71142141 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGG>-,G,GG,GGGG,GGGGG,GGGGGG,GGGGGGG,GGGGGGGG,GGGGGGGGG [Show Flanks]
Chromosome:: 17:68210966 (GRCh38)
17:66207107 (GRCh37)
Canonical SPDI:: NC_000017.11:68210957:GGGGGGGGGGG:GGGGGGGG,NC_000017.11:68210957:GGGGGGGGGGG:GGGGGGGGG,NC_000017.11:68210957:GGGGGGGGGGG:GGGGGGGGGG,NC_000017.11:68210957:GGGGGGGGGGG:GGGGGGGGGGGG,NC_000017.11:68210957:GGGGGGGGGGG:GGGGGGGGGGGGG,NC_000017.11:68210957:GGGGGGGGGGG:GGGGGGGGGGGGGG,NC_000017.11:68210957:GGGGGGGGGGG:GGGGGGGGGGGGGGG,NC_000017.11:68210957:GGGGGGGGGGG:GGGGGGGGGGGGGGGG,NC_000017.11:68210957:GGGGGGGGGGG:GGGGGGGGGGGGGGGGG
Gene:: AMZ2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGGG=0./0 (ALFA)
-=0.2448/1226 (1000Genomes)
-=0.325/13 (GENOME_DK)
HGVS:: NC_000017.11:g.68210966_68210968del, NC_000017.11:g.68210967_68210968del, NC_000017.11:g.68210968del, NC_000017.11:g.68210968dup, NC_000017.11:g.68210967_68210968dup, NC_000017.11:g.68210966_68210968dup, NC_000017.11:g.68210965_68210968dup, NC_000017.11:g.68210964_68210968dup, NC_000017.11:g.68210963_68210968dup, NC_000017.10:g.66207107_66207109del, NC_000017.10:g.66207108_66207109del, NC_000017.10:g.66207109del, NC_000017.10:g.66207109dup, NC_000017.10:g.66207108_66207109dup, NC_000017.10:g.66207107_66207109dup, NC_000017.10:g.66207106_66207109dup, NC_000017.10:g.66207105_66207109dup, NC_000017.10:g.66207104_66207109dup, NG_051827.1:g.9838_9840del, NG_051827.1:g.9839_9840del, NG_051827.1:g.9840del, NG_051827.1:g.9840dup, NG_051827.1:g.9839_9840dup, NG_051827.1:g.9838_9840dup, NG_051827.1:g.9837_9840dup, NG_051827.1:g.9836_9840dup, NG_051827.1:g.9835_9840dup, NW_003871088.1:g.270977_270979del, NW_003871088.1:g.270978_270979del, NW_003871088.1:g.270979del, NW_003871088.1:g.270979dup, NW_003871088.1:g.270978_270979dup, NW_003871088.1:g.270977_270979dup, NW_003871088.1:g.270976_270979dup, NW_003871088.1:g.270975_270979dup, NW_003871088.1:g.270974_270979dup

Select item 149122748011.

rs1491227480 [Homo sapiens]

Variant type:: INS
Alleles:: ->AAAAAG,AG,T [Show Flanks]
Chromosome:: 17:68210957 (GRCh38)
17:66207099 (GRCh37)
Canonical SPDI:: NC_000017.11:68210957::AAAAAG,NC_000017.11:68210957::AG,NC_000017.11:68210957::T
Gene:: AMZ2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
AG=0.000064/7 (GnomAD)
HGVS:: NC_000017.11:g.68210957_68210958insAAAAAG, NC_000017.11:g.68210957_68210958insAG, NC_000017.11:g.68210957_68210958insT, NC_000017.10:g.66207098_66207099insAAAAAG, NC_000017.10:g.66207098_66207099insAG, NC_000017.10:g.66207098_66207099insT, NG_051827.1:g.9829_9830insAAAAAG, NG_051827.1:g.9829_9830insAG, NG_051827.1:g.9829_9830insT, NW_003871088.1:g.270968_270969insAAAAAG, NW_003871088.1:g.270968_270969insAG, NW_003871088.1:g.270968_270969insT

Select item 149117656512.

rs1491176565 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 17:68217032 (GRCh38)
17:66213173 (GRCh37)
Canonical SPDI:: NC_000017.11:68217031:CA:
Gene:: AMZ2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00042/5 (ALFA)
HGVS:: NC_000017.11:g.68217032_68217033del, NC_000017.10:g.66213173_66213174del, NG_051827.1:g.15904_15905del, NW_003871088.1:g.277043_277044del

Select item 149115907713.

rs1491159077 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GCACACAC [Show Flanks]
Chromosome:: 17:68238587 (GRCh38)
17:66234729 (GRCh37)
Canonical SPDI:: NC_000017.11:68238587:CACACAC:CACACACGCACACAC
Gene:: AMZ2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACACGCACACAC=0./0 (ALFA)
CACACACG=0.00011/3 (GnomAD)
HGVS:: NC_000017.11:g.68238588_68238594CA[3]CGCACACAC[1], NC_000017.10:g.66234729_66234735CA[3]CGCACACAC[1], NG_051827.1:g.37460_37466CA[3]CGCACACAC[1], NW_003871088.1:g.298599_298605CA[3]CGCACACAC[1]

Select item 149113242614.

rs1491132426 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 17:68210957 (GRCh38)
17:66207098 (GRCh37)
Canonical SPDI:: NC_000017.11:68210956:AG:
Gene:: AMZ2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000057/6 (GnomAD)
-=0.00029/5 (TOMMO)
HGVS:: NC_000017.11:g.68210957_68210958del, NC_000017.10:g.66207098_66207099del, NG_051827.1:g.9829_9830del, NW_003871088.1:g.270968_270969del

Select item 149108386115.

rs1491083861 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 17:68209213 (GRCh38)
17:66205354 (GRCh37)
Canonical SPDI:: NC_000017.11:68209212:TG:
Gene:: AMZ2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000017.11:g.68209213_68209214del, NC_000017.10:g.66205354_66205355del, NG_051827.1:g.8085_8086del, NW_003871088.1:g.269224_269225del

Select item 149104105416.

rs1491041054 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 17:68245214 (GRCh38)
17:66241356 (GRCh37)
Canonical SPDI:: NC_000017.11:68245214::C
Gene:: AMZ2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000169/2 (ALFA)
C=0.000067/9 (GnomAD)
HGVS:: NC_000017.11:g.68245214_68245215insC, NC_000017.10:g.66241355_66241356insC, NG_051827.1:g.44086_44087insC, NW_003871088.1:g.305225_305226insC

Select item 149103315317.

rs1491033153 has merged into rs11298867 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 17:68220792 (GRCh38)
17:66216933 (GRCh37)
Canonical SPDI:: NC_000017.11:68220782:TTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000017.11:68220782:TTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000017.11:68220782:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:68220782:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:68220782:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:68220782:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:68220782:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:68220782:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:68220782:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:68220782:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000017.11:68220782:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000017.11:68220782:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:68220782:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT
Gene:: AMZ2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
-=0.3886/1946 (1000Genomes)
HGVS:: NC_000017.11:g.68220792_68220798del, NC_000017.11:g.68220793_68220798del, NC_000017.11:g.68220795_68220798del, NC_000017.11:g.68220796_68220798del, NC_000017.11:g.68220797_68220798del, NC_000017.11:g.68220798del, NC_000017.11:g.68220798dup, NC_000017.11:g.68220797_68220798dup, NC_000017.11:g.68220796_68220798dup, NC_000017.11:g.68220795_68220798dup, NC_000017.11:g.68220794_68220798dup, NC_000017.11:g.68220793_68220798dup, NC_000017.11:g.68220792_68220798dup, NC_000017.10:g.66216933_66216939del, NC_000017.10:g.66216934_66216939del, NC_000017.10:g.66216936_66216939del, NC_000017.10:g.66216937_66216939del, NC_000017.10:g.66216938_66216939del, NC_000017.10:g.66216939del, NC_000017.10:g.66216939dup, NC_000017.10:g.66216938_66216939dup, NC_000017.10:g.66216937_66216939dup, NC_000017.10:g.66216936_66216939dup, NC_000017.10:g.66216935_66216939dup, NC_000017.10:g.66216934_66216939dup, NC_000017.10:g.66216933_66216939dup, NG_051827.1:g.19664_19670del, NG_051827.1:g.19665_19670del, NG_051827.1:g.19667_19670del, NG_051827.1:g.19668_19670del, NG_051827.1:g.19669_19670del, NG_051827.1:g.19670del, NG_051827.1:g.19670dup, NG_051827.1:g.19669_19670dup, NG_051827.1:g.19668_19670dup, NG_051827.1:g.19667_19670dup, NG_051827.1:g.19666_19670dup, NG_051827.1:g.19665_19670dup, NG_051827.1:g.19664_19670dup, NW_003871088.1:g.280803_280809del, NW_003871088.1:g.280804_280809del, NW_003871088.1:g.280806_280809del, NW_003871088.1:g.280807_280809del, NW_003871088.1:g.280808_280809del, NW_003871088.1:g.280809del, NW_003871088.1:g.280809dup, NW_003871088.1:g.280808_280809dup, NW_003871088.1:g.280807_280809dup, NW_003871088.1:g.280806_280809dup, NW_003871088.1:g.280805_280809dup, NW_003871088.1:g.280804_280809dup, NW_003871088.1:g.280803_280809dup

Select item 149100635518.

rs1491006355 has merged into rs34686374 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA,AAAAA [Show Flanks]
Chromosome:: 17:68225025 (GRCh38)
17:66221166 (GRCh37)
Canonical SPDI:: NC_000017.11:68225015:AAAAAAAAAAA:AAAAAAAAA,NC_000017.11:68225015:AAAAAAAAAAA:AAAAAAAAAA,NC_000017.11:68225015:AAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:68225015:AAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:68225015:AAAAAAAAAAA:AAAAAAAAAAAAAA
Gene:: AMZ2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
-=0.30591/1532 (1000Genomes)
HGVS:: NC_000017.11:g.68225025_68225026del, NC_000017.11:g.68225026del, NC_000017.11:g.68225026dup, NC_000017.11:g.68225025_68225026dup, NC_000017.11:g.68225024_68225026dup, NC_000017.10:g.66221166_66221167del, NC_000017.10:g.66221167del, NC_000017.10:g.66221167dup, NC_000017.10:g.66221166_66221167dup, NC_000017.10:g.66221165_66221167dup, NG_051827.1:g.23897_23898del, NG_051827.1:g.23898del, NG_051827.1:g.23898dup, NG_051827.1:g.23897_23898dup, NG_051827.1:g.23896_23898dup, NW_003871088.1:g.285036_285037del, NW_003871088.1:g.285037del, NW_003871088.1:g.285037dup, NW_003871088.1:g.285036_285037dup, NW_003871088.1:g.285035_285037dup

Select item 149099548119.

rs1490995481 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:68204743 (GRCh38)
17:66200884 (GRCh37)
Canonical SPDI:: NC_000017.11:68204742:G:A
Gene:: AMZ2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.68204743G>A, NC_000017.10:g.66200884G>A, NG_051827.1:g.3615G>A, NW_003871088.1:g.264754G>A

Select item 149096987420.

rs1490969874 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:68205448 (GRCh38)
17:66201589 (GRCh37)
Canonical SPDI:: NC_000017.11:68205447:G:A,NC_000017.11:68205447:G:T
Gene:: AMZ2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000017.11:g.68205448G>A, NC_000017.11:g.68205448G>T, NC_000017.10:g.66201589G>A, NC_000017.10:g.66201589G>T, NG_051827.1:g.4320G>A, NG_051827.1:g.4320G>T, NW_003871088.1:g.265459G>A, NW_003871088.1:g.265459G>T

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