SNP Links for Gene (Select 9509) - SNP

Links from Gene

Items: 1 to 20 of 57959

<< First< Prev

Page of 2898

Next >Last >>

Select item 14915794411.

rs1491579441 has merged into rs58141791 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 5:179201642 (GRCh38)
5:178628643 (GRCh37)
Canonical SPDI:: NC_000005.10:179201631:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000005.10:179201631:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:179201631:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:179201631:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:179201631:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:179201631:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:179201631:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:179201631:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:179201631:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:179201631:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:179201631:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000005.10:179201631:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:179201631:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:179201631:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:179201631:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:179201631:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:179201631:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:179201631:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:179201631:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:179201631:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:179201631:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:179201631:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:179201631:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:179201631:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:179201631:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:179201631:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ADAMTS2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000005.10:g.179201642_179201652del, NC_000005.10:g.179201643_179201652del, NC_000005.10:g.179201644_179201652del, NC_000005.10:g.179201645_179201652del, NC_000005.10:g.179201646_179201652del, NC_000005.10:g.179201647_179201652del, NC_000005.10:g.179201648_179201652del, NC_000005.10:g.179201649_179201652del, NC_000005.10:g.179201650_179201652del, NC_000005.10:g.179201651_179201652del, NC_000005.10:g.179201652del, NC_000005.10:g.179201652dup, NC_000005.10:g.179201651_179201652dup, NC_000005.10:g.179201650_179201652dup, NC_000005.10:g.179201649_179201652dup, NC_000005.10:g.179201648_179201652dup, NC_000005.10:g.179201647_179201652dup, NC_000005.10:g.179201646_179201652dup, NC_000005.10:g.179201645_179201652dup, NC_000005.10:g.179201644_179201652dup, NC_000005.10:g.179201643_179201652dup, NC_000005.10:g.179201642_179201652dup, NC_000005.10:g.179201641_179201652dup, NC_000005.10:g.179201640_179201652dup, NC_000005.10:g.179201639_179201652dup, NC_000005.10:g.179201638_179201652dup, NC_000005.9:g.178628643_178628653del, NC_000005.9:g.178628644_178628653del, NC_000005.9:g.178628645_178628653del, NC_000005.9:g.178628646_178628653del, NC_000005.9:g.178628647_178628653del, NC_000005.9:g.178628648_178628653del, NC_000005.9:g.178628649_178628653del, NC_000005.9:g.178628650_178628653del, NC_000005.9:g.178628651_178628653del, NC_000005.9:g.178628652_178628653del, NC_000005.9:g.178628653del, NC_000005.9:g.178628653dup, NC_000005.9:g.178628652_178628653dup, NC_000005.9:g.178628651_178628653dup, NC_000005.9:g.178628650_178628653dup, NC_000005.9:g.178628649_178628653dup, NC_000005.9:g.178628648_178628653dup, NC_000005.9:g.178628647_178628653dup, NC_000005.9:g.178628646_178628653dup, NC_000005.9:g.178628645_178628653dup, NC_000005.9:g.178628644_178628653dup, NC_000005.9:g.178628643_178628653dup, NC_000005.9:g.178628642_178628653dup, NC_000005.9:g.178628641_178628653dup, NC_000005.9:g.178628640_178628653dup, NC_000005.9:g.178628639_178628653dup, NG_023212.3:g.148687_148697del, NG_023212.3:g.148688_148697del, NG_023212.3:g.148689_148697del, NG_023212.3:g.148690_148697del, NG_023212.3:g.148691_148697del, NG_023212.3:g.148692_148697del, NG_023212.3:g.148693_148697del, NG_023212.3:g.148694_148697del, NG_023212.3:g.148695_148697del, NG_023212.3:g.148696_148697del, NG_023212.3:g.148697del, NG_023212.3:g.148697dup, NG_023212.3:g.148696_148697dup, NG_023212.3:g.148695_148697dup, NG_023212.3:g.148694_148697dup, NG_023212.3:g.148693_148697dup, NG_023212.3:g.148692_148697dup, NG_023212.3:g.148691_148697dup, NG_023212.3:g.148690_148697dup, NG_023212.3:g.148689_148697dup, NG_023212.3:g.148688_148697dup, NG_023212.3:g.148687_148697dup, NG_023212.3:g.148686_148697dup, NG_023212.3:g.148685_148697dup, NG_023212.3:g.148684_148697dup, NG_023212.3:g.148683_148697dup

Select item 14915768052.

rs1491576805 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 5:179214599 (GRCh38)
5:178641600 (GRCh37)
Canonical SPDI:: NC_000005.10:179214596:AGAG:AG
Gene:: ADAMTS2 (Varview)
Functional Consequence:: intron_variant
Validated:: by cluster
HGVS:: NC_000005.10:g.179214597AG[1], NC_000005.9:g.178641598AG[1], NG_023212.3:g.135729CT[1]

Select item 14915546043.

rs1491554604 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GCACACACGTGT [Show Flanks]
Chromosome:: 5:179337375 (GRCh38)
5:178764377 (GRCh37)
Canonical SPDI:: NC_000005.10:179337375:TGTGCACACACGTGT:TGTGCACACACGTGTGCACACACGTGT
Gene:: ADAMTS2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TGTGCACACACGTGTGCACACACGTGT=0./0 (ALFA)
HGVS:: NC_000005.10:g.179337379_179337390dup, NC_000005.9:g.178764380_178764391dup, NG_023212.3:g.12942_12953dup, NW_016107298.1:g.102086_102097dup

Select item 14915543864.

rs1491554386 has merged into rs58394791 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTTTTTTTT [Show Flanks]
Chromosome:: 5:179133881 (GRCh38)
5:178560882 (GRCh37)
Canonical SPDI:: NC_000005.10:179133869:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000005.10:179133869:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000005.10:179133869:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:179133869:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:179133869:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:179133869:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT
Gene:: ADAMTS2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
-=0.19129/958 (1000Genomes)
-=0.2/8 (GENOME_DK)
-=0.24261/935 (ALSPAC)
-=0.2438/904 (TWINSUK)
HGVS:: NC_000005.10:g.179133881_179133883del, NC_000005.10:g.179133882_179133883del, NC_000005.10:g.179133883del, NC_000005.10:g.179133883dup, NC_000005.10:g.179133882_179133883dup, NC_000005.10:g.179133875_179133883dup, NC_000005.9:g.178560882_178560884del, NC_000005.9:g.178560883_178560884del, NC_000005.9:g.178560884del, NC_000005.9:g.178560884dup, NC_000005.9:g.178560883_178560884dup, NC_000005.9:g.178560876_178560884dup, NG_023212.3:g.216457_216459del, NG_023212.3:g.216458_216459del, NG_023212.3:g.216459del, NG_023212.3:g.216459dup, NG_023212.3:g.216458_216459dup, NG_023212.3:g.216451_216459dup

Select item 14915470785.

rs1491547078 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 5:179261705 (GRCh38)
5:178688707 (GRCh37)
Canonical SPDI:: NC_000005.10:179261705:T:TT
Gene:: ADAMTS2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.179261706dup, NC_000005.9:g.178688707dup, NG_023212.3:g.88623dup, NW_016107298.1:g.26413dup, XM_047417896.1:c.-2705dup

Select item 14915466826.

rs1491546682 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CAAA,CAAAACAAA [Show Flanks]
Chromosome:: 5:179245797 (GRCh38)
5:178672799 (GRCh37)
Canonical SPDI:: NC_000005.10:179245797:AAA:AAACAAA,NC_000005.10:179245797:AAA:AAACAAAACAAA
Gene:: ADAMTS2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAACAAAACAAA=0./0 (ALFA)
HGVS:: NC_000005.10:g.179245800_179245801insCAAA, NC_000005.10:g.179245798_179245800AAACA[2]AA[1], NC_000005.9:g.178672801_178672802insCAAA, NC_000005.9:g.178672799_178672801AAACA[2]AA[1], NG_023212.3:g.104531_104532insGTTT, NG_023212.3:g.104529_104531TTTGT[2]TT[1], NW_016107298.1:g.10507_10508insCAAA, NW_016107298.1:g.10505_10507AAACA[2]AA[1]

Select item 14915349747.

rs1491534974 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 5:179324394 (GRCh38)
5:178751396 (GRCh37)
Canonical SPDI:: NC_000005.10:179324394::C
Gene:: ADAMTS2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.0003/4 (GnomAD)
HGVS:: NC_000005.10:g.179324394_179324395insC, NC_000005.9:g.178751395_178751396insC, NG_023212.3:g.25934_25935insG, NW_016107298.1:g.89101_89102insC

Select item 14915191258.

rs1491519125 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCC>-,CCCC [Show Flanks]
Chromosome:: 5:179277581 (GRCh38)
5:178704582 (GRCh37)
Canonical SPDI:: NC_000005.10:179277577:CCCCCC:CCC,NC_000005.10:179277577:CCCCCC:CCCCCCC
Gene:: ADAMTS2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: CCCCCCC=0./0 (ALFA)
HGVS:: NC_000005.10:g.179277581_179277583del, NC_000005.10:g.179277583dup, NC_000005.9:g.178704582_178704584del, NC_000005.9:g.178704584dup, NG_023212.3:g.72749_72751del, NG_023212.3:g.72751dup, NW_016107298.1:g.42288_42290del, NW_016107298.1:g.42290dup

Select item 14915049519.

rs1491504951 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GCACACAC,GCACACACACACGCACACAC,GCACACACACAGGCACACAC,GCACACACACATGCACACAC,GCACACACACATGCACACACACACGCACACAC,GCACACACACATGCACACACACGCACACAC,GCACACACACGCACACACACACGCACACAC,GCGCACACACATGCACACAC [Show Flanks]
Chromosome:: 5:179209550 (GRCh38)
5:178636552 (GRCh37)
Canonical SPDI:: NC_000005.10:179209550:CACACAC:CACACACGCACACAC,NC_000005.10:179209550:CACACAC:CACACACGCACACACACACGCACACAC,NC_000005.10:179209550:CACACAC:CACACACGCACACACACAGGCACACAC,NC_000005.10:179209550:CACACAC:CACACACGCACACACACATGCACACAC,NC_000005.10:179209550:CACACAC:CACACACGCACACACACATGCACACACACACGCACACAC,NC_000005.10:179209550:CACACAC:CACACACGCACACACACATGCACACACACGCACACAC,NC_000005.10:179209550:CACACAC:CACACACGCACACACACGCACACACACACGCACACAC,NC_000005.10:179209550:CACACAC:CACACACGCGCACACACATGCACACAC
Gene:: ADAMTS2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACACGCACACACACACGCACACAC=0./0 (ALFA)
CACACACGCACACACACATG=0.00849/142 (TOMMO)
CACACACGCACACACACATG=0.03271/7 (Vietnamese)
HGVS:: NC_000005.10:g.179209551_179209557CA[3]CGCACACAC[1], NC_000005.10:g.179209551_179209557CACACACGCACA[2]CAC[1], NC_000005.10:g.179209551_179209557CA[3]CGCACACACACAGGCACACAC[1], NC_000005.10:g.179209551_179209557CA[3]CGCACACACACATGCACACAC[1], NC_000005.10:g.179209551_179209557CA[3]CGCACACACACATGCACACACACACGCACACAC[1], NC_000005.10:g.179209551_179209557CA[3]CGCACACACACATGCACACACACGCACACAC[1], NC_000005.10:g.179209551_179209557CACACACGCA[2]CA[4]CGCACACAC[1], NC_000005.10:g.179209551_179209557CA[3]CG[2]CA[4]TGCACACAC[1], NC_000005.9:g.178636552_178636558CA[3]CGCACACAC[1], NC_000005.9:g.178636552_178636558CACACACGCACA[2]CAC[1], NC_000005.9:g.178636552_178636558CA[3]CGCACACACACAGGCACACAC[1], NC_000005.9:g.178636552_178636558CA[3]CGCACACACACATGCACACAC[1], NC_000005.9:g.178636552_178636558CA[3]CGCACACACACATGCACACACACACGCACACAC[1], NC_000005.9:g.178636552_178636558CA[3]CGCACACACACATGCACACACACGCACACAC[1], NC_000005.9:g.178636552_178636558CACACACGCA[2]CA[4]CGCACACAC[1], NC_000005.9:g.178636552_178636558CA[3]CG[2]CA[4]TGCACACAC[1], NG_023212.3:g.140772_140778GT[3]GCGTGTGTG[1], NG_023212.3:g.140772_140778GTGTGTGCGTGT[2]GTG[1], NG_023212.3:g.140772_140778GT[3]GCCTGTGTGTGTGCGTGTGTG[1], NG_023212.3:g.140772_140778GT[3]GCATGTGTGTGTGCGTGTGTG[1], NG_023212.3:g.140772_140778GT[3]GCGTGTGTGTGTGCATGTGTGTGTGCGTGTGTG[1], NG_023212.3:g.140772_140778GT[3]GCGTGTGTGTGCATGTGTGTGTGCGTGTGTG[1], NG_023212.3:g.140772_140778GTGTGTGCGTGT[2]GT[2]GCGTGTGTG[1], NG_023212.3:g.140772_140778GT[3]GCATGTGTGTGCGCGTGTGTG[1]

Select item 149149481610.

rs1491494816 has merged into rs34678289 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA [Show Flanks]
Chromosome:: 5:179243164 (GRCh38)
5:178670165 (GRCh37)
Canonical SPDI:: NC_000005.10:179243150:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:179243150:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:179243150:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:179243150:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:179243150:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:179243150:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:179243150:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
Gene:: ADAMTS2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.2858/1029 (1000Genomes)
HGVS:: NC_000005.10:g.179243164_179243166del, NC_000005.10:g.179243165_179243166del, NC_000005.10:g.179243166del, NC_000005.10:g.179243166dup, NC_000005.10:g.179243165_179243166dup, NC_000005.10:g.179243164_179243166dup, NC_000005.10:g.179243163_179243166dup, NC_000005.9:g.178670165_178670167del, NC_000005.9:g.178670166_178670167del, NC_000005.9:g.178670167del, NC_000005.9:g.178670167dup, NC_000005.9:g.178670166_178670167dup, NC_000005.9:g.178670165_178670167dup, NC_000005.9:g.178670164_178670167dup, NG_023212.3:g.107176_107178del, NG_023212.3:g.107177_107178del, NG_023212.3:g.107178del, NG_023212.3:g.107178dup, NG_023212.3:g.107177_107178dup, NG_023212.3:g.107176_107178dup, NG_023212.3:g.107175_107178dup, NW_016107298.1:g.7871_7873del, NW_016107298.1:g.7872_7873del, NW_016107298.1:g.7873del, NW_016107298.1:g.7873dup, NW_016107298.1:g.7872_7873dup, NW_016107298.1:g.7871_7873dup, NW_016107298.1:g.7870_7873dup

Select item 149148412611.

rs1491484126 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GAA [Show Flanks]
Chromosome:: 5:179305056 (GRCh38)
5:178732058 (GRCh37)
Canonical SPDI:: NC_000005.10:179305056:AA:AAGAA
Gene:: ADAMTS2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: AAGAA=0./0 (ALFA)
AAG=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.179305058_179305059insGAA, NC_000005.9:g.178732059_178732060insGAA, NG_023212.3:g.45272_45273insCTT, NW_016107298.1:g.69765_69766insGAA

Select item 149148040212.

rs1491480402 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 5:179131306 (GRCh38)
5:178558307 (GRCh37)
Canonical SPDI:: NC_000005.10:179131305:CA:
Gene:: ADAMTS2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000005.10:g.179131306_179131307del, NC_000005.9:g.178558307_178558308del, NG_023212.3:g.219022_219023del

Select item 149147380313.

rs1491473803 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 5:179331434 (GRCh38)
5:178758435 (GRCh37)
Canonical SPDI:: NC_000005.10:179331433:AA:
Gene:: ADAMTS2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: -=0.0018/9 (1000Genomes)
HGVS:: NC_000005.10:g.179331434_179331435del, NC_000005.9:g.178758435_178758436del, NG_023212.3:g.18894_18895del, NW_016107298.1:g.96141_96142del

Select item 149147158014.

rs1491471580 [Homo sapiens]

Variant type:: DELINS
Alleles:: TC>- [Show Flanks]
Chromosome:: 5:179321509 (GRCh38)
5:178748510 (GRCh37)
Canonical SPDI:: NC_000005.10:179321503:CTCTCTC:CTCTC
Gene:: ADAMTS2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
HGVS:: NC_000005.10:g.179321505TC[2], NC_000005.9:g.178748506TC[2], NG_023212.3:g.28820AG[2], NW_016107298.1:g.86212TC[2]

Select item 149146687415.

rs1491466874 has merged into rs1390854821 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>-,GG [Show Flanks]
Chromosome:: 5:179181863 (GRCh38)
5:178608864 (GRCh37)
Canonical SPDI:: NC_000005.10:179181862:GGGGGG:GGGGG,NC_000005.10:179181862:GGGGGG:GGGGGGG
Gene:: ADAMTS2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGG=0./0 (ALFA)
HGVS:: NC_000005.10:g.179181868del, NC_000005.10:g.179181868dup, NC_000005.9:g.178608869del, NC_000005.9:g.178608869dup, NG_023212.3:g.168466del, NG_023212.3:g.168466dup

Select item 149146022416.

rs1491460224 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 5:179243150 (GRCh38)
5:178670151 (GRCh37)
Canonical SPDI:: NC_000005.10:179243149:GA:
Gene:: ADAMTS2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000005.10:g.179243150_179243151del, NC_000005.9:g.178670151_178670152del, NG_023212.3:g.107178_107179del, NW_016107298.1:g.7857_7858del

Select item 149145551017.

rs1491455510 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 5:179133869 (GRCh38)
5:178560870 (GRCh37)
Canonical SPDI:: NC_000005.10:179133868:AT:
Gene:: ADAMTS2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000008/1 (GnomAD)
HGVS:: NC_000005.10:g.179133869_179133870del, NC_000005.9:g.178560870_178560871del, NG_023212.3:g.216459_216460del

Select item 149145031418.

rs1491450314 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTGTGCACAC [Show Flanks]
Chromosome:: 5:179337391 (GRCh38)
5:178764393 (GRCh37)
Canonical SPDI:: NC_000005.10:179337391:CACAC:CACACGTGTGCACAC
Gene:: ADAMTS2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: CACACGTGTG=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.179337392_179337396CA[2]CGTGTGCACAC[1], NC_000005.9:g.178764393_178764397CA[2]CGTGTGCACAC[1], NG_023212.3:g.12933_12937GT[2]GCACACGTGTG[1], NW_016107298.1:g.102099_102103CA[2]CGTGTGCACAC[1]

Select item 149142851919.

rs1491428519 has merged into rs71577036 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA,AAAAAA [Show Flanks]
Chromosome:: 5:179291920 (GRCh38)
5:178718921 (GRCh37)
Canonical SPDI:: NC_000005.10:179291906:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:179291906:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:179291906:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:179291906:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:179291906:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
Gene:: ADAMTS2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000005.10:g.179291920_179291921del, NC_000005.10:g.179291921del, NC_000005.10:g.179291921dup, NC_000005.10:g.179291920_179291921dup, NC_000005.10:g.179291918_179291921dup, NC_000005.9:g.178718921_178718922del, NC_000005.9:g.178718922del, NC_000005.9:g.178718922dup, NC_000005.9:g.178718921_178718922dup, NC_000005.9:g.178718919_178718922dup, NG_023212.3:g.58421_58422del, NG_023212.3:g.58422del, NG_023212.3:g.58422dup, NG_023212.3:g.58421_58422dup, NG_023212.3:g.58419_58422dup, NW_016107298.1:g.56627_56628del, NW_016107298.1:g.56628del, NW_016107298.1:g.56628dup, NW_016107298.1:g.56627_56628dup, NW_016107298.1:g.56625_56628dup

Select item 149138759720.

rs1491387597 has merged into rs3084664 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA [Show Flanks]
Chromosome:: 5:179305068 (GRCh38)
5:178732069 (GRCh37)
Canonical SPDI:: NC_000005.10:179305055:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:179305055:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:179305055:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:179305055:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:179305055:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:179305055:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:179305055:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
Gene:: ADAMTS2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.25699/1287 (1000Genomes)
HGVS:: NC_000005.10:g.179305068_179305070del, NC_000005.10:g.179305069_179305070del, NC_000005.10:g.179305070del, NC_000005.10:g.179305070dup, NC_000005.10:g.179305069_179305070dup, NC_000005.10:g.179305068_179305070dup, NC_000005.10:g.179305067_179305070dup, NC_000005.9:g.178732069_178732071del, NC_000005.9:g.178732070_178732071del, NC_000005.9:g.178732071del, NC_000005.9:g.178732071dup, NC_000005.9:g.178732070_178732071dup, NC_000005.9:g.178732069_178732071dup, NC_000005.9:g.178732068_178732071dup, NG_023212.3:g.45271_45273del, NG_023212.3:g.45272_45273del, NG_023212.3:g.45273del, NG_023212.3:g.45273dup, NG_023212.3:g.45272_45273dup, NG_023212.3:g.45271_45273dup, NG_023212.3:g.45270_45273dup, NW_016107298.1:g.69775_69777del, NW_016107298.1:g.69776_69777del, NW_016107298.1:g.69777del, NW_016107298.1:g.69777dup, NW_016107298.1:g.69776_69777dup, NW_016107298.1:g.69775_69777dup, NW_016107298.1:g.69774_69777dup

<< First< Prev

Page of 2898

Next >Last >>

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 57959

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity