SNP Links for Gene (Select 100506422) - SNP

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Select item 14915891081.

rs1491589108 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 9:26104687 (GRCh38)
9:26104685 (GRCh37)
Canonical SPDI:: NC_000009.12:26104680:ATATATAT:ATATAT
Gene:: LOC100506422 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATAT=0.00051/6 (ALFA)
-=0.00003/2 (GnomAD)
HGVS:: NC_000009.12:g.26104681AT[3], NC_000009.11:g.26104679AT[3]

Select item 14915797532.

rs1491579753 has merged into rs202011187 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 9:26104107 (GRCh38)
9:26104105 (GRCh37)
Canonical SPDI:: NC_000009.12:26104097:TGTGTGTGTGTGTGTGTGT:TGTGTGTGT,NC_000009.12:26104097:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGT,NC_000009.12:26104097:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGT,NC_000009.12:26104097:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000009.12:26104097:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000009.12:26104097:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000009.12:26104097:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT
Gene:: LOC100506422 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGT=0./0 (ALFA)
-=0.017651/87 (1000Genomes)
-=0.042555/11264 (TOPMED)
-=0.050856/196 (ALSPAC)
-=0.1/4 (GENOME_DK)
HGVS:: NC_000009.12:g.26104099GT[4], NC_000009.12:g.26104099GT[5], NC_000009.12:g.26104099GT[6], NC_000009.12:g.26104099GT[7], NC_000009.12:g.26104099GT[8], NC_000009.12:g.26104099GT[10], NC_000009.12:g.26104099GT[11], NC_000009.11:g.26104097GT[4], NC_000009.11:g.26104097GT[5], NC_000009.11:g.26104097GT[6], NC_000009.11:g.26104097GT[7], NC_000009.11:g.26104097GT[8], NC_000009.11:g.26104097GT[10], NC_000009.11:g.26104097GT[11]

Select item 14915651553.

rs1491565155 [Homo sapiens]

Variant type:: DEL
Alleles:: CG>- [Show Flanks]
Chromosome:: 9:26104664 (GRCh38)
9:26104662 (GRCh37)
Canonical SPDI:: NC_000009.12:26104663:CG:
Gene:: LOC100506422 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.01382/224 (ALFA)
-=0.00423/419 (GnomAD)
-=0.00985/18 (Korea1K)
-=0.01823/305 (TOMMO)
HGVS:: NC_000009.12:g.26104664_26104665del, NC_000009.11:g.26104662_26104663del

Select item 14915639754.

rs1491563975 has merged into rs1205362376 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAACAAAAAAAAATAGAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 9:26113945 (GRCh38)
9:26113943 (GRCh37)
Canonical SPDI:: NC_000009.12:26113934:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000009.12:26113934:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000009.12:26113934:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000009.12:26113934:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000009.12:26113934:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000009.12:26113934:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000009.12:26113934:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000009.12:26113934:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000009.12:26113934:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000009.12:26113934:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000009.12:26113934:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000009.12:26113934:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:26113934:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:26113934:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:26113934:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:26113934:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:26113934:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:26113934:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:26113934:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:26113934:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:26113934:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:26113934:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:26113934:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:26113934:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:26113934:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:26113934:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:26113934:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:26113934:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:26113934:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:26113934:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:26113934:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:26113934:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:26113934:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:26113934:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:26113934:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:26113934:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:26113934:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:26113934:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:26113934:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:26113934:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:26113934:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:26113934:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAATAGAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: LOC100506422 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.26113945_26113956del, NC_000009.12:g.26113946_26113956del, NC_000009.12:g.26113948_26113956del, NC_000009.12:g.26113949_26113956del, NC_000009.12:g.26113950_26113956del, NC_000009.12:g.26113951_26113956del, NC_000009.12:g.26113952_26113956del, NC_000009.12:g.26113953_26113956del, NC_000009.12:g.26113954_26113956del, NC_000009.12:g.26113955_26113956del, NC_000009.12:g.26113956del, NC_000009.12:g.26113956dup, NC_000009.12:g.26113955_26113956dup, NC_000009.12:g.26113954_26113956dup, NC_000009.12:g.26113953_26113956dup, NC_000009.12:g.26113952_26113956dup, NC_000009.12:g.26113951_26113956dup, NC_000009.12:g.26113950_26113956dup, NC_000009.12:g.26113949_26113956dup, NC_000009.12:g.26113939_26113956dup, NC_000009.12:g.26113938_26113956dup, NC_000009.12:g.26113937_26113956dup, NC_000009.12:g.26113936_26113956dup, NC_000009.12:g.26113935_26113956dup, NC_000009.12:g.26113956_26113957insAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.12:g.26113956_26113957insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.12:g.26113956_26113957insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.12:g.26113956_26113957insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.12:g.26113956_26113957insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.12:g.26113956_26113957insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.12:g.26113935_26113956A[31]TAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000009.12:g.26113935_26113956A[31]TAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000009.12:g.26113935_26113956A[30]TAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000009.12:g.26113935_26113956A[30]TAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000009.12:g.26113935_26113956A[30]TAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000009.12:g.26113935_26113956A[30]TAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000009.12:g.26113935_26113956A[24]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000009.12:g.26113935_26113956A[23]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000009.12:g.26113935_26113956A[23]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000009.12:g.26113935_26113956A[23]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000009.12:g.26113935_26113956A[23]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000009.12:g.26113935_26113956A[23]CAAAAAAAAATAGAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000009.11:g.26113943_26113954del, NC_000009.11:g.26113944_26113954del, NC_000009.11:g.26113946_26113954del, NC_000009.11:g.26113947_26113954del, NC_000009.11:g.26113948_26113954del, NC_000009.11:g.26113949_26113954del, NC_000009.11:g.26113950_26113954del, NC_000009.11:g.26113951_26113954del, NC_000009.11:g.26113952_26113954del, NC_000009.11:g.26113953_26113954del, NC_000009.11:g.26113954del, NC_000009.11:g.26113954dup, NC_000009.11:g.26113953_26113954dup, NC_000009.11:g.26113952_26113954dup, NC_000009.11:g.26113951_26113954dup, NC_000009.11:g.26113950_26113954dup, NC_000009.11:g.26113949_26113954dup, NC_000009.11:g.26113948_26113954dup, NC_000009.11:g.26113947_26113954dup, NC_000009.11:g.26113937_26113954dup, NC_000009.11:g.26113936_26113954dup, NC_000009.11:g.26113935_26113954dup, NC_000009.11:g.26113934_26113954dup, NC_000009.11:g.26113933_26113954dup, NC_000009.11:g.26113954_26113955insAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.11:g.26113954_26113955insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.11:g.26113954_26113955insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.11:g.26113954_26113955insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.11:g.26113954_26113955insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.11:g.26113954_26113955insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.11:g.26113933_26113954A[31]TAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000009.11:g.26113933_26113954A[31]TAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000009.11:g.26113933_26113954A[30]TAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000009.11:g.26113933_26113954A[30]TAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000009.11:g.26113933_26113954A[30]TAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000009.11:g.26113933_26113954A[30]TAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000009.11:g.26113933_26113954A[24]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000009.11:g.26113933_26113954A[23]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000009.11:g.26113933_26113954A[23]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000009.11:g.26113933_26113954A[23]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000009.11:g.26113933_26113954A[23]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000009.11:g.26113933_26113954A[23]CAAAAAAAAATAGAAAAAAAAAAAAAAAAAAAAAAAA[1]

Select item 14915342215.

rs1491534221 [Homo sapiens]

Variant type:: INS
Alleles:: ->ACAT,ATATATACACAT [Show Flanks]
Chromosome:: 9:26104664 (GRCh38)
9:26104663 (GRCh37)
Canonical SPDI:: NC_000009.12:26104664::ACAT,NC_000009.12:26104664::ATATATACACAT
Gene:: LOC100506422 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ATATATACACAT=0./0 (ALFA)
HGVS:: NC_000009.12:g.26104664_26104665insACAT, NC_000009.12:g.26104664_26104665insATATATACACAT, NC_000009.11:g.26104662_26104663insACAT, NC_000009.11:g.26104662_26104663insATATATACACAT

Select item 14915312416.

rs1491531241 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACACGTGTATATATACATATATACAC>-,ACACGTGTATATATACATATATACACACACGTGTATATATACATATATACAC,ACACGTGTATATATACATATATACACACACGTGTATATATACATATATACACACACGTGTATATATACATATATACAC [Show Flanks]
Chromosome:: 9:26082028 (GRCh38)
9:26082026 (GRCh37)
Canonical SPDI:: NC_000009.12:26082017:ATATATACACACACGTGTATATATACATATATACAC:ATATATACAC,NC_000009.12:26082017:ATATATACACACACGTGTATATATACATATATACAC:ATATATACACACACGTGTATATATACATATATACACACACGTGTATATATACATATATACAC,NC_000009.12:26082017:ATATATACACACACGTGTATATATACATATATACAC:ATATATACACACACGTGTATATATACATATATACACACACGTGTATATATACATATATACACACACGTGTATATATACATATATACAC
Gene:: LOC100506422 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATACACACACGTGTATATATACATATATACACACACGTGTATATATACATATATACAC=0.00017/2 (ALFA)
ATATATACACACACGTGTATATATAC=0.00021/4 (TOMMO)
HGVS:: NC_000009.12:g.26082028_26082053del, NC_000009.12:g.26082028_26082053dup, NC_000009.12:g.26082028ACACGTGTATATATACATATATACAC[3], NC_000009.11:g.26082026_26082051del, NC_000009.11:g.26082026_26082051dup, NC_000009.11:g.26082026ACACGTGTATATATACATATATACAC[3]

Select item 14915153717.

rs1491515371 [Homo sapiens]

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

Select item 14915096188.

rs1491509618 has merged into rs1220786720 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGT>-,GT [Show Flanks]
Chromosome:: 9:26104615 (GRCh38)
9:26104613 (GRCh37)
Canonical SPDI:: NC_000009.12:26104608:GTGTGTGTGT:GTGTGT,NC_000009.12:26104608:GTGTGTGTGT:GTGTGTGT
Gene:: LOC100506422 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GTGTGTGT=0./0 (ALFA)
HGVS:: NC_000009.12:g.26104609GT[3], NC_000009.12:g.26104609GT[4], NC_000009.11:g.26104607GT[3], NC_000009.11:g.26104607GT[4]

Select item 14915083879.

rs1491508387 has merged into rs1355388306 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGT>-,GT [Show Flanks]
Chromosome:: 9:26082014 (GRCh38)
9:26082012 (GRCh37)
Canonical SPDI:: NC_000009.12:26082010:TGTGTGT:TGT,NC_000009.12:26082010:TGTGTGT:TGTGT
Gene:: LOC100506422 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TGTGT=0.000054/1 (ALFA)
-=0.000022/3 (GnomAD)
HGVS:: NC_000009.12:g.26082012GT[1], NC_000009.12:g.26082012GT[2], NC_000009.11:g.26082010GT[1], NC_000009.11:g.26082010GT[2]

Select item 149149910710.

rs1491499107 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTGG [Show Flanks]
Chromosome:: 9:26104772 (GRCh38)
9:26104771 (GRCh37)
Canonical SPDI:: NC_000009.12:26104772:GTGG:GTGGGTGG
Gene:: LOC100506422 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GTGGGTGG=0./0 (ALFA)
HGVS:: NC_000009.12:g.26104773_26104776dup, NC_000009.11:g.26104771_26104774dup

Select item 149149757111.

rs1491497571 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTGT,T [Show Flanks]
Chromosome:: 9:26104137 (GRCh38)
9:26104136 (GRCh37)
Canonical SPDI:: NC_000009.12:26104137:T:TGTGT,NC_000009.12:26104137:T:TT
Gene:: LOC100506422 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.26104138_26104139insGTGT, NC_000009.12:g.26104138dup, NC_000009.11:g.26104136_26104137insGTGT, NC_000009.11:g.26104136dup

Select item 149143561012.

rs1491435610 [Homo sapiens]

Variant type:: INS
Alleles:: ->CATATATAT,TATATAT [Show Flanks]
Chromosome:: 9:26104705 (GRCh38)
9:26104704 (GRCh37)
Canonical SPDI:: NC_000009.12:26104705::CATATATAT,NC_000009.12:26104705::TATATAT
Gene:: LOC100506422 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: CATATATAT=0.000025/3 (GnomAD)
HGVS:: NC_000009.12:g.26104705_26104706insCATATATAT, NC_000009.12:g.26104705_26104706insTATATAT, NC_000009.11:g.26104703_26104704insCATATATAT, NC_000009.11:g.26104703_26104704insTATATAT

Select item 149135769713.

rs1491357697 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TGTGTA [Show Flanks]
Chromosome:: 9:26104203 (GRCh38)
9:26104202 (GRCh37)
Canonical SPDI:: NC_000009.12:26104203:TGTGTATGTGTA:TGTGTATGTGTATGTGTA
Gene:: LOC100506422 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TGTGTATGTGTATGTGTA=0./0 (ALFA)
TGTGTA=0.00001/1 (GnomAD)
HGVS:: NC_000009.12:g.26104204TGTGTA[3], NC_000009.11:g.26104202TGTGTA[3]

Select item 149135185414.

rs1491351854 [Homo sapiens]

Variant type:: DELINS
Alleles:: TG>- [Show Flanks]
Chromosome:: 9:26104774 (GRCh38)
9:26104772 (GRCh37)
Canonical SPDI:: NC_000009.12:26104771:TGTG:TG
Gene:: LOC100506422 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TGTG=0./0 (ALFA)
HGVS:: NC_000009.12:g.26104772TG[1], NC_000009.11:g.26104770TG[1]

Select item 149129497915.

rs1491294979 has merged into rs539282020 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>-,TATA [Show Flanks]
Chromosome:: 9:26104144 (GRCh38)
9:26104142 (GRCh37)
Canonical SPDI:: NC_000009.12:26104136:ATATATATA:ATATATA,NC_000009.12:26104136:ATATATATA:ATATATATATA
Gene:: LOC100506422 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATA=0.00006/1 (ALFA)
-=0.00007/2 (TOMMO)
AT=0.0006/3 (1000Genomes)
AT=0.00135/5 (TWINSUK)
AT=0.00156/6 (ALSPAC)
AT=0.00333/2 (NorthernSweden)
HGVS:: NC_000009.12:g.26104138TA[3], NC_000009.12:g.26104138TA[5], NC_000009.11:g.26104136TA[3], NC_000009.11:g.26104136TA[5]

Select item 149128912416.

rs1491289124 [Homo sapiens]

Variant type:: DEL
Alleles:: GG>- [Show Flanks]
Chromosome:: 9:26123174 (GRCh38)
9:26123172 (GRCh37)
Canonical SPDI:: NC_000009.12:26123173:GG:
Validated:: by frequency,by cluster
MAF:: -=0.000468/3 (1000Genomes)
-=0.000862/102 (GnomAD)
HGVS:: NC_000009.12:g.26123174_26123175del, NC_000009.11:g.26123172_26123173del

Select item 149128828317.

rs1491288283 [Homo sapiens]

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

Select item 149128791118.

rs1491287911 [Homo sapiens]

Variant type:: INS
Alleles:: ->ACATATATACACACAC [Show Flanks]
Chromosome:: 9:26082011 (GRCh38)
9:26082010 (GRCh37)
Canonical SPDI:: NC_000009.12:26082011::ACATATATACACACAC
Gene:: LOC100506422 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACATATATACACACAC=0./0 (ALFA)
ACATATATACACACAC=0.000813/111 (GnomAD)
HGVS:: NC_000009.12:g.26082011_26082012insACATATATACACACAC, NC_000009.11:g.26082009_26082010insACATATATACACACAC

Select item 149124229419.

rs1491242294 has merged into rs71977503 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGT>-,GT,GTGT,GTGTGTGT,GTGTGTGTGT [Show Flanks]
Chromosome:: 9:26082283 (GRCh38)
9:26082281 (GRCh37)
Canonical SPDI:: NC_000009.12:26082271:TGTGTGTGTGTGTGTGT:TGTGTGTGTGT,NC_000009.12:26082271:TGTGTGTGTGTGTGTGT:TGTGTGTGTGTGT,NC_000009.12:26082271:TGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000009.12:26082271:TGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000009.12:26082271:TGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT
Gene:: LOC100506422 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGT=0./0 (ALFA)
TGTG=0.000004/1 (TOPMED)
-=0.098333/59 (NorthernSweden)
-=0.125/5 (GENOME_DK)
-=0.171326/858 (1000Genomes)
HGVS:: NC_000009.12:g.26082273GT[5], NC_000009.12:g.26082273GT[6], NC_000009.12:g.26082273GT[7], NC_000009.12:g.26082273GT[9], NC_000009.12:g.26082273GT[10], NC_000009.11:g.26082271GT[5], NC_000009.11:g.26082271GT[6], NC_000009.11:g.26082271GT[7], NC_000009.11:g.26082271GT[9], NC_000009.11:g.26082271GT[10]

Select item 149121073920.

rs1491210739 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 9:26104315 (GRCh38)
9:26104313 (GRCh37)
Canonical SPDI:: NC_000009.12:26104310:GTGTGT:GTGT
Gene:: LOC100506422 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GTGT=0./0 (ALFA)
HGVS:: NC_000009.12:g.26104311GT[2], NC_000009.11:g.26104309GT[2]

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