SNP Links for Gene (Select 100129316) - SNP

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Select item 14913825111.

rs1491382511 has merged into rs779310077 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT [Show Flanks]
Chromosome:: 9:91070713 (GRCh38)
9:93832995 (GRCh37)
Canonical SPDI:: NC_000009.12:91070703:TTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000009.12:91070703:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000009.12:91070703:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000009.12:91070703:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000009.12:91070703:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000009.12:91070703:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000009.12:91070703:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
Gene:: LOC100129316 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.16667/6 (GENOME_DK)
HGVS:: NC_000009.12:g.91070713_91070719del, NC_000009.12:g.91070717_91070719del, NC_000009.12:g.91070718_91070719del, NC_000009.12:g.91070719del, NC_000009.12:g.91070719dup, NC_000009.12:g.91070718_91070719dup, NC_000009.12:g.91070717_91070719dup, NC_000009.11:g.93832995_93833001del, NC_000009.11:g.93832999_93833001del, NC_000009.11:g.93833000_93833001del, NC_000009.11:g.93833001del, NC_000009.11:g.93833001dup, NC_000009.11:g.93833000_93833001dup, NC_000009.11:g.93832999_93833001dup

Select item 14913787502.

rs1491378750 has merged into rs201465131 [Homo sapiens]

Variant type:: DELINS
Alleles:: CC>-,C,CCC,CCCC,CCCCC [Show Flanks]
Chromosome:: 9:91075664 (GRCh38)
9:93837946 (GRCh37)
Canonical SPDI:: NC_000009.12:91075657:CCCCCCCC:CCCCCC,NC_000009.12:91075657:CCCCCCCC:CCCCCCC,NC_000009.12:91075657:CCCCCCCC:CCCCCCCCC,NC_000009.12:91075657:CCCCCCCC:CCCCCCCCCC,NC_000009.12:91075657:CCCCCCCC:CCCCCCCCCCC
Gene:: LOC100129316 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCC=0./0 (ALFA)
C=0.00339/2 (NorthernSweden)
C=0.00394/17 (Estonian)
C=0.025/1 (GENOME_DK)
C=0.03335/167 (1000Genomes)
C=0.07423/121 (Korea1K)
HGVS:: NC_000009.12:g.91075664_91075665del, NC_000009.12:g.91075665del, NC_000009.12:g.91075665dup, NC_000009.12:g.91075664_91075665dup, NC_000009.12:g.91075663_91075665dup, NC_000009.11:g.93837946_93837947del, NC_000009.11:g.93837947del, NC_000009.11:g.93837947dup, NC_000009.11:g.93837946_93837947dup, NC_000009.11:g.93837945_93837947dup

Select item 14912334403.

rs1491233440 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GCCC [Show Flanks]
Chromosome:: 9:91075658 (GRCh38)
9:93837941 (GRCh37)
Canonical SPDI:: NC_000009.12:91075658:CCC:CCCGCCC
Gene:: LOC100129316 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: CCCGCCC=0./0 (ALFA)
HGVS:: NC_000009.12:g.91075661_91075662insGCCC, NC_000009.11:g.93837943_93837944insGCCC

Select item 14911856054.

rs1491185605 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AT [Show Flanks]
Chromosome:: 9:91070704 (GRCh38)
9:93832987 (GRCh37)
Canonical SPDI:: NC_000009.12:91070704:T:TAT
Gene:: LOC100129316 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TAT=0.0032/38 (ALFA)
TA=0.00193/133 (GnomAD)
HGVS:: NC_000009.12:g.91070705_91070706insAT, NC_000009.11:g.93832987_93832988insAT

Select item 14909402115.

rs1490940211 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:91067217 (GRCh38)
9:93829499 (GRCh37)
Canonical SPDI:: NC_000009.12:91067216:G:A
Gene:: LOC100129316 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000009.12:g.91067217G>A, NC_000009.11:g.93829499G>A

Select item 14899221876.

rs1489922187 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 9:91074819 (GRCh38)
9:93837101 (GRCh37)
Canonical SPDI:: NC_000009.12:91074818:G:C
Gene:: LOC100129316 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000009.12:g.91074819G>C, NC_000009.11:g.93837101G>C, NR_033912.1:n.314C>G

Select item 14899137477.

rs1489913747 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 9:91071114 (GRCh38)
9:93833396 (GRCh37)
Canonical SPDI:: NC_000009.12:91071113:A:C,NC_000009.12:91071113:A:G
Gene:: LOC100129316 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000009.12:g.91071114A>C, NC_000009.12:g.91071114A>G, NC_000009.11:g.93833396A>C, NC_000009.11:g.93833396A>G

Select item 14888916068.

rs1488891606 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 9:91066686 (GRCh38)
9:93828968 (GRCh37)
Canonical SPDI:: NC_000009.12:91066685:AAAAA:AAAA
Gene:: LOC100129316 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAA=0./0 (ALFA)
-=0.000034/9 (TOPMED)
-=0.000036/5 (GnomAD)
-=0.000156/1 (1000Genomes)
HGVS:: NC_000009.12:g.91066690del, NC_000009.11:g.93828972del

Select item 14888089209.

rs1488808920 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 9:91066283 (GRCh38)
9:93828565 (GRCh37)
Canonical SPDI:: NC_000009.12:91066282:C:A,NC_000009.12:91066282:C:T
Gene:: LOC100129316 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000009.12:g.91066283C>A, NC_000009.12:g.91066283C>T, NC_000009.11:g.93828565C>A, NC_000009.11:g.93828565C>T, NR_033912.1:n.2260G>T, NR_033912.1:n.2260G>A

Select item 148867095710.

rs1488670957 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 9:91072355 (GRCh38)
9:93834637 (GRCh37)
Canonical SPDI:: NC_000009.12:91072354:C:A,NC_000009.12:91072354:C:G
Gene:: LOC100129316 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.91072355C>A, NC_000009.12:g.91072355C>G, NC_000009.11:g.93834637C>A, NC_000009.11:g.93834637C>G

Select item 148865679211.

rs1488656792 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 9:91064761 (GRCh38)
9:93827043 (GRCh37)
Canonical SPDI:: NC_000009.12:91064760:C:G,NC_000009.12:91064760:C:T
Gene:: LOC100129316 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000009.12:g.91064761C>G, NC_000009.12:g.91064761C>T, NC_000009.11:g.93827043C>G, NC_000009.11:g.93827043C>T, NR_033912.1:n.3782G>C, NR_033912.1:n.3782G>A

Select item 148838793912.

rs1488387939 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:91075262 (GRCh38)
9:93837544 (GRCh37)
Canonical SPDI:: NC_000009.12:91075261:C:T
Gene:: LOC100129316 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.91075262C>T, NC_000009.11:g.93837544C>T

Select item 148790757213.

rs1487907572 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:91072536 (GRCh38)
9:93834818 (GRCh37)
Canonical SPDI:: NC_000009.12:91072535:G:A
Gene:: LOC100129316 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000009.12:g.91072536G>A, NC_000009.11:g.93834818G>A

Select item 148777304514.

rs1487773045 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:91073829 (GRCh38)
9:93836111 (GRCh37)
Canonical SPDI:: NC_000009.12:91073828:G:A
Gene:: LOC100129316 (Varview)
Functional Consequence:: non_coding_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_000009.12:g.91073829G>A, NC_000009.11:g.93836111G>A, NR_033912.1:n.1304C>T

Select item 148771324415.

rs1487713244 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:91073427 (GRCh38)
9:93835709 (GRCh37)
Canonical SPDI:: NC_000009.12:91073426:G:A
Gene:: LOC100129316 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.91073427G>A, NC_000009.11:g.93835709G>A

Select item 148740634416.

rs1487406344 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:91076508 (GRCh38)
9:93838790 (GRCh37)
Canonical SPDI:: NC_000009.12:91076507:G:A
Gene:: LOC100129316 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000053/14 (TOPMED)
HGVS:: NC_000009.12:g.91076508G>A, NC_000009.11:g.93838790G>A

Select item 148735685417.

rs1487356854 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:91064567 (GRCh38)
9:93826849 (GRCh37)
Canonical SPDI:: NC_000009.12:91064566:C:T
Gene:: LOC100129316 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.91064567C>T, NC_000009.11:g.93826849C>T, NR_033912.1:n.3976G>A

Select item 148687323518.

rs1486873235 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 9:91072665 (GRCh38)
9:93834947 (GRCh37)
Canonical SPDI:: NC_000009.12:91072664:C:A,NC_000009.12:91072664:C:T
Gene:: LOC100129316 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
A=0.000156/1 (1000Genomes)
HGVS:: NC_000009.12:g.91072665C>A, NC_000009.12:g.91072665C>T, NC_000009.11:g.93834947C>A, NC_000009.11:g.93834947C>T

Select item 148664142119.

rs1486641421 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 9:91063591 (GRCh38)
9:93825873 (GRCh37)
Canonical SPDI:: NC_000009.12:91063590:T:C,NC_000009.12:91063590:T:G
Gene:: LOC100129316 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by cluster
HGVS:: NC_000009.12:g.91063591T>C, NC_000009.12:g.91063591T>G, NC_000009.11:g.93825873T>C, NC_000009.11:g.93825873T>G, NR_033912.1:n.4952A>G, NR_033912.1:n.4952A>C

Select item 148654549820.

rs1486545498 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:91063954 (GRCh38)
9:93826236 (GRCh37)
Canonical SPDI:: NC_000009.12:91063953:A:G
Gene:: LOC100129316 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.91063954A>G, NC_000009.11:g.93826236A>G, NR_033912.1:n.4589T>C

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