SNP Links for Gene (Select 3178) - SNP

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Select item 14908502371.

rs1490850237 [Homo sapiens]

Variant type:: DEL
Alleles:: AACTG>- [Show Flanks]
Chromosome:: 12:54285256 (GRCh38)
12:54679040 (GRCh37)
Canonical SPDI:: NC_000012.12:54285255:AACTG:
Gene:: HNRNPA1 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.54285256_54285260del, NC_000012.11:g.54679040_54679044del, NG_033830.1:g.9553_9557del, NM_031157.4:c.*712_*716del, NM_002136.4:c.*712_*716del

Select item 14907936582.

rs1490793658 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:54279506 (GRCh38)
12:54673290 (GRCh37)
Canonical SPDI:: NC_000012.12:54279505:C:T
Gene:: HNRNPA1 (Varview), CBX5 (Varview), SCAT2 (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
T=0.000106/2 (TOMMO)
T=0.000546/1 (Korea1K)
T=0.001027/3 (KOREAN)
HGVS:: NC_000012.12:g.54279506C>T, NC_000012.11:g.54673290C>T, NG_033830.1:g.3803C>T, NG_068103.1:g.86C>T

Select item 14904114483.

rs1490411448 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:54286445 (GRCh38)
12:54680229 (GRCh37)
Canonical SPDI:: NC_000012.12:54286444:A:G
Gene:: HNRNPA1 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000012.12:g.54286445A>G, NC_000012.11:g.54680229A>G, NG_033830.1:g.10742A>G, NM_031157.4:c.*1901A>G, NM_002136.4:c.*1901A>G

Select item 14903557954.

rs1490355795 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 12:54285654 (GRCh38)
12:54679438 (GRCh37)
Canonical SPDI:: NC_000012.12:54285649:CACACA:CACA
Gene:: HNRNPA1 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACA=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
HGVS:: NC_000012.12:g.54285650CA[2], NC_000012.11:g.54679434CA[2], NG_033830.1:g.9947CA[2], NM_031157.4:c.*1106CA[2], NM_002136.4:c.*1106CA[2]

Select item 14900326705.

rs1490032670 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:54284824 (GRCh38)
12:54678608 (GRCh37)
Canonical SPDI:: NC_000012.12:54284823:T:C
Gene:: HNRNPA1 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000012.12:g.54284824T>C, NC_000012.11:g.54678608T>C, NG_033830.1:g.9121T>C, NM_031157.4:c.*280T>C, NM_031157.3:c.*280T>C, NM_031157.2:c.*280T>C, NM_002136.4:c.*280T>C, NM_002136.3:c.*280T>C, NM_002136.2:c.*280T>C

Select item 14899754096.

rs1489975409 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:54279166 (GRCh38)
12:54672950 (GRCh37)
Canonical SPDI:: NC_000012.12:54279165:A:G
Gene:: HNRNPA1 (Varview), CBX5 (Varview), SCAT2 (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.54279166A>G, NC_000012.11:g.54672950A>G, NG_033830.1:g.3463A>G

Select item 14895797187.

rs1489579718 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 12:54285999 (GRCh38)
12:54679783 (GRCh37)
Canonical SPDI:: NC_000012.12:54285998:G:A,NC_000012.12:54285998:G:C
Gene:: HNRNPA1 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000142/2 (TOMMO)
HGVS:: NC_000012.12:g.54285999G>A, NC_000012.12:g.54285999G>C, NC_000012.11:g.54679783G>A, NC_000012.11:g.54679783G>C, NG_033830.1:g.10296G>A, NG_033830.1:g.10296G>C, NM_031157.4:c.*1455G>A, NM_031157.4:c.*1455G>C, NM_002136.4:c.*1455G>A, NM_002136.4:c.*1455G>C

Select item 14895333498.

rs1489533349 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 12:54279515 (GRCh38)
12:54673299 (GRCh37)
Canonical SPDI:: NC_000012.12:54279514:G:A,NC_000012.12:54279514:G:C,NC_000012.12:54279514:G:T
Gene:: HNRNPA1 (Varview), CBX5 (Varview), SCAT2 (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
T=0.000015/4 (TOPMED)
HGVS:: NC_000012.12:g.54279515G>A, NC_000012.12:g.54279515G>C, NC_000012.12:g.54279515G>T, NC_000012.11:g.54673299G>A, NC_000012.11:g.54673299G>C, NC_000012.11:g.54673299G>T, NG_033830.1:g.3812G>A, NG_033830.1:g.3812G>C, NG_033830.1:g.3812G>T, NG_068103.1:g.95G>A, NG_068103.1:g.95G>C, NG_068103.1:g.95G>T

Select item 14893958619.

rs1489395861 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:54280732 (GRCh38)
12:54674516 (GRCh37)
Canonical SPDI:: NC_000012.12:54280731:G:A
Gene:: HNRNPA1 (Varview), CBX5 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant,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_000012.12:g.54280732G>A, NC_000012.11:g.54674516G>A, NG_033830.1:g.5029G>A, NM_031157.4:c.-76G>A, NM_031157.3:c.-76G>A, NM_031157.2:c.-76G>A, NM_002136.4:c.-76G>A, NM_002136.3:c.-76G>A, NM_002136.2:c.-76G>A, NR_135167.2:n.7G>A, NR_135167.1:n.43G>A, NG_068103.1:g.1312G>A

Select item 148921761910.

rs1489217619 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:54283304 (GRCh38)
12:54677088 (GRCh37)
Canonical SPDI:: NC_000012.12:54283303:C:T
Gene:: HNRNPA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000012.12:g.54283304C>T, NC_000012.11:g.54677088C>T, NG_033830.1:g.7601C>T

Select item 148868345311.

rs1488683453 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 12:54280148 (GRCh38)
12:54673932 (GRCh37)
Canonical SPDI:: NC_000012.12:54280147:C:G,NC_000012.12:54280147:C:T
Gene:: HNRNPA1 (Varview), CBX5 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00007/1 (ALFA)
HGVS:: NC_000012.12:g.54280148C>G, NC_000012.12:g.54280148C>T, NC_000012.11:g.54673932C>G, NC_000012.11:g.54673932C>T, NG_033830.1:g.4445C>G, NG_033830.1:g.4445C>T, NG_068103.1:g.728C>G, NG_068103.1:g.728C>T

Select item 148866261112.

rs1488662611 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:54281973 (GRCh38)
12:54675757 (GRCh37)
Canonical SPDI:: NC_000012.12:54281972:A:G
Gene:: HNRNPA1 (Varview), CBX5 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.54281973A>G, NC_000012.11:g.54675757A>G, NG_033830.1:g.6270A>G

Select item 148837528013.

rs1488375280 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 12:54281976 (GRCh38)
12:54675760 (GRCh37)
Canonical SPDI:: NC_000012.12:54281975:T:A,NC_000012.12:54281975:T:C
Gene:: HNRNPA1 (Varview), CBX5 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.54281976T>A, NC_000012.12:g.54281976T>C, NC_000012.11:g.54675760T>A, NC_000012.11:g.54675760T>C, NG_033830.1:g.6273T>A, NG_033830.1:g.6273T>C

Select item 148769743614.

rs1487697436 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 12:54279526 (GRCh38)
12:54673310 (GRCh37)
Canonical SPDI:: NC_000012.12:54279525:T:A
Gene:: HNRNPA1 (Varview), CBX5 (Varview), SCAT2 (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.54279526T>A, NC_000012.11:g.54673310T>A, NG_033830.1:g.3823T>A, NG_068103.1:g.106T>A

Select item 148768971815.

rs1487689718 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:54283054 (GRCh38)
12:54676838 (GRCh37)
Canonical SPDI:: NC_000012.12:54283053:A:G
Gene:: HNRNPA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.54283054A>G, NC_000012.11:g.54676838A>G, NG_033830.1:g.7351A>G

Select item 148760673216.

rs1487606732 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 12:54278884 (GRCh38)
12:54672668 (GRCh37)
Canonical SPDI:: NC_000012.12:54278883:A:C
Gene:: HNRNPA1 (Varview), CBX5 (Varview), SCAT2 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.54278884A>C, NC_000012.11:g.54672668A>C, NG_033830.1:g.3181A>C, NR_157844.1:n.556A>C

Select item 148684480517.

rs1486844805 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 12:54282513 (GRCh38)
12:54676297 (GRCh37)
Canonical SPDI:: NC_000012.12:54282512:A:C
Gene:: HNRNPA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.54282513A>C, NC_000012.11:g.54676297A>C, NG_033830.1:g.6810A>C

Select item 148657133318.

rs1486571333 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 12:54281953 (GRCh38)
12:54675737 (GRCh37)
Canonical SPDI:: NC_000012.12:54281952:T:A,NC_000012.12:54281952:T:C,NC_000012.12:54281952:T:G
Gene:: HNRNPA1 (Varview), CBX5 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.54281953T>A, NC_000012.12:g.54281953T>C, NC_000012.12:g.54281953T>G, NC_000012.11:g.54675737T>A, NC_000012.11:g.54675737T>C, NC_000012.11:g.54675737T>G, NG_033830.1:g.6250T>A, NG_033830.1:g.6250T>C, NG_033830.1:g.6250T>G

Select item 148606623419.

rs1486066234 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:54279579 (GRCh38)
12:54673363 (GRCh37)
Canonical SPDI:: NC_000012.12:54279578:G:A
Gene:: HNRNPA1 (Varview), CBX5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.54279579G>A, NC_000012.11:g.54673363G>A, NG_033830.1:g.3876G>A, NG_068103.1:g.159G>A

Select item 148589880120.

rs1485898801 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 12:54282890 (GRCh38)
12:54676674 (GRCh37)
Canonical SPDI:: NC_000012.12:54282889:A:G,NC_000012.12:54282889:A:T
Gene:: HNRNPA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.54282890A>G, NC_000012.12:g.54282890A>T, NC_000012.11:g.54676674A>G, NC_000012.11:g.54676674A>T, NG_033830.1:g.7187A>G, NG_033830.1:g.7187A>T

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