SNP Links for Gene (Select 653437) - SNP

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Select item 14909713281.

rs1490971328 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:240679473 (GRCh38)
2:241618890 (GRCh37)
Canonical SPDI:: NC_000002.12:240679472:G:A
Gene:: AQP12B (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00008/1 (ALFA)
A=0.00006/5 (GnomAD)
A=0.00037/1 (KOREAN)
HGVS:: NC_000002.12:g.240679473G>A, NC_000002.11:g.241618890G>A, XM_047445563.1:c.*13C>T

Select item 14909662972.

rs1490966297 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:240682785 (GRCh38)
2:241622202 (GRCh37)
Canonical SPDI:: NC_000002.12:240682784:C:G
Gene:: AQP12B (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.240682785C>G, NC_000002.11:g.241622202C>G, XM_011511673.3:c.53G>C, XM_011511673.2:c.53G>C, XM_011511673.1:c.53G>C, XR_922992.3:n.101G>C, XR_922992.2:n.137G>C, XR_922992.1:n.134G>C, XM_011511677.3:c.53G>C, XM_011511677.2:c.53G>C, XM_011511677.1:c.53G>C, XR_922998.3:n.101G>C, XR_922998.2:n.137G>C, XR_922998.1:n.134G>C, XM_011511676.3:c.53G>C, XM_011511676.2:c.53G>C, XM_011511676.1:c.53G>C, XM_011511678.3:c.53G>C, XM_011511678.2:c.53G>C, XM_011511678.1:c.53G>C, XM_017004737.2:c.53G>C, XM_017004737.1:c.53G>C, NM_001102467.2:c.53G>C, NM_001102467.1:c.53G>C, XM_047445559.1:c.53G>C, XM_047445560.1:c.53G>C, XM_047445564.1:c.53G>C, XM_047445562.1:c.53G>C, XM_047445566.1:c.53G>C, XM_047445565.1:c.53G>C, XP_011509975.1:p.Cys18Ser, XP_011509979.1:p.Cys18Ser, XP_011509978.1:p.Cys18Ser, XP_011509980.1:p.Cys18Ser, XP_016860226.1:p.Cys18Ser, NP_001095937.1:p.Cys18Ser, XP_047301515.1:p.Cys18Ser, XP_047301516.1:p.Cys18Ser, XP_047301520.1:p.Cys18Ser, XP_047301518.1:p.Cys18Ser, XP_047301522.1:p.Cys18Ser, XP_047301521.1:p.Cys18Ser

Select item 14908536603.

rs1490853660 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:240682418 (GRCh38)
2:241621835 (GRCh37)
Canonical SPDI:: NC_000002.12:240682417:C:A,NC_000002.12:240682417:C:T
Gene:: AQP12B (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000002.12:g.240682418C>A, NC_000002.12:g.240682418C>T, NC_000002.11:g.241621835C>A, NC_000002.11:g.241621835C>T, XM_011511673.3:c.420G>T, XM_011511673.3:c.420G>A, XM_011511673.2:c.420G>T, XM_011511673.2:c.420G>A, XM_011511673.1:c.420G>T, XM_011511673.1:c.420G>A, XR_922992.3:n.468G>T, XR_922992.3:n.468G>A, XR_922992.2:n.504G>T, XR_922992.2:n.504G>A, XR_922992.1:n.501G>T, XR_922992.1:n.501G>A, XM_011511677.3:c.420G>T, XM_011511677.3:c.420G>A, XM_011511677.2:c.420G>T, XM_011511677.2:c.420G>A, XM_011511677.1:c.420G>T, XM_011511677.1:c.420G>A, XR_922998.3:n.468G>T, XR_922998.3:n.468G>A, XR_922998.2:n.504G>T, XR_922998.2:n.504G>A, XR_922998.1:n.501G>T, XR_922998.1:n.501G>A, XM_011511676.3:c.420G>T, XM_011511676.3:c.420G>A, XM_011511676.2:c.420G>T, XM_011511676.2:c.420G>A, XM_011511676.1:c.420G>T, XM_011511676.1:c.420G>A, XM_011511678.3:c.420G>T, XM_011511678.3:c.420G>A, XM_011511678.2:c.420G>T, XM_011511678.2:c.420G>A, XM_011511678.1:c.420G>T, XM_011511678.1:c.420G>A, XM_017004737.2:c.420G>T, XM_017004737.2:c.420G>A, XM_017004737.1:c.420G>T, XM_017004737.1:c.420G>A, NM_001102467.2:c.420G>T, NM_001102467.2:c.420G>A, NM_001102467.1:c.420G>T, NM_001102467.1:c.420G>A, XM_047445563.1:c.348G>T, XM_047445563.1:c.348G>A, XM_047445561.1:c.348G>T, XM_047445561.1:c.348G>A, XM_047445559.1:c.420G>T, XM_047445559.1:c.420G>A, XM_047445560.1:c.420G>T, XM_047445560.1:c.420G>A, XM_047445564.1:c.420G>T, XM_047445564.1:c.420G>A, XM_047445562.1:c.420G>T, XM_047445562.1:c.420G>A, XM_047445566.1:c.420G>T, XM_047445566.1:c.420G>A, XM_047445565.1:c.420G>T, XM_047445565.1:c.420G>A

Select item 14907398094.

rs1490739809 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:240680660 (GRCh38)
2:241620077 (GRCh37)
Canonical SPDI:: NC_000002.12:240680659:G:A
Gene:: AQP12B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000002.12:g.240680660G>A, NC_000002.11:g.241620077G>A

Select item 14905051055.

rs1490505105 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:240685149 (GRCh38)
2:241624566 (GRCh37)
Canonical SPDI:: NC_000002.12:240685148:A:C
Gene:: LOC285191 (Varview), AQP12B (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00211/25 (ALFA)
C=0.01416/41 (KOREAN)
A=0.5/1 (SGDP_PRJ)
HGVS:: NC_000002.12:g.240685149A>C, NC_000002.11:g.241624566A>C

Select item 14899879836.

rs1489987983 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:240681122 (GRCh38)
2:241620539 (GRCh37)
Canonical SPDI:: NC_000002.12:240681121:C:G
Gene:: AQP12B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00655/92 (ALFA)
G=0.00084/46 (GnomAD)
G=0.00734/47 (1000Genomes)
C=0.5/2 (SGDP_PRJ)
HGVS:: NC_000002.12:g.240681122C>G, NC_000002.11:g.241620539C>G

Select item 14897807687.

rs1489780768 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:240685399 (GRCh38)
2:241624816 (GRCh37)
Canonical SPDI:: NC_000002.12:240685398:G:A
Gene:: LOC285191 (Varview), AQP12B (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000002.12:g.240685399G>A, NC_000002.11:g.241624816G>A

Select item 14892302228.

rs1489230222 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:240682262 (GRCh38)
2:241621679 (GRCh37)
Canonical SPDI:: NC_000002.12:240682261:C:T
Gene:: AQP12B (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
HGVS:: NC_000002.12:g.240682262C>T, NC_000002.11:g.241621679C>T, XM_011511673.3:c.576G>A, XM_011511673.2:c.576G>A, XM_011511673.1:c.576G>A, XR_922992.3:n.624G>A, XR_922992.2:n.660G>A, XR_922992.1:n.657G>A, XM_011511677.3:c.576G>A, XM_011511677.2:c.576G>A, XM_011511677.1:c.576G>A, XR_922998.3:n.624G>A, XR_922998.2:n.660G>A, XR_922998.1:n.657G>A, XM_011511676.3:c.576G>A, XM_011511676.2:c.576G>A, XM_011511676.1:c.576G>A, XM_011511678.3:c.576G>A, XM_011511678.2:c.576G>A, XM_011511678.1:c.576G>A, XM_017004737.2:c.576G>A, XM_017004737.1:c.576G>A, NM_001102467.2:c.576G>A, NM_001102467.1:c.576G>A, XM_047445563.1:c.504G>A, XM_047445561.1:c.504G>A, XM_047445559.1:c.576G>A, XM_047445560.1:c.576G>A, XM_047445564.1:c.576G>A, XM_047445562.1:c.576G>A, XM_047445566.1:c.576G>A, XM_047445565.1:c.576G>A

Select item 14891425589.

rs1489142558 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:240683247 (GRCh38)
2:241622664 (GRCh37)
Canonical SPDI:: NC_000002.12:240683246:C:A
Gene:: AQP12B (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000759/9 (ALFA)
A=0.000449/62 (GnomAD)
A=0.000468/3 (1000Genomes)
HGVS:: NC_000002.12:g.240683247C>A, NC_000002.11:g.241622664C>A, XM_047445563.1:c.-192G>T, XM_047445561.1:c.-192G>T

Select item 148888401010.

rs1488884010 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:240687202 (GRCh38)
2:241626619 (GRCh37)
Canonical SPDI:: NC_000002.12:240687201:G:T
Gene:: LOC285191 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.240687202G>T, NC_000002.11:g.241626619G>T, NR_149021.1:n.869G>T

Select item 148864867411.

rs1488648674 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:240686920 (GRCh38)
2:241626337 (GRCh37)
Canonical SPDI:: NC_000002.12:240686919:G:T
Gene:: LOC285191 (Varview)
Functional Consequence:: non_coding_transcript_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_000002.12:g.240686920G>T, NC_000002.11:g.241626337G>T, NR_149021.1:n.587G>T

Select item 148824102812.

rs1488241028 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:240683440 (GRCh38)
2:241622857 (GRCh37)
Canonical SPDI:: NC_000002.12:240683439:A:G
Gene:: AQP12B (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000002.12:g.240683440A>G, NC_000002.11:g.241622857A>G, XM_047445563.1:c.-385T>C, XM_047445561.1:c.-385T>C

Select item 148821888813.

rs1488218888 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:240681069 (GRCh38)
2:241620486 (GRCh37)
Canonical SPDI:: NC_000002.12:240681068:G:A
Gene:: AQP12B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000002.12:g.240681069G>A, NC_000002.11:g.241620486G>A

Select item 148818939514.

rs1488189395 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:240682211 (GRCh38)
2:241621628 (GRCh37)
Canonical SPDI:: NC_000002.12:240682210:G:A
Gene:: AQP12B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.240682211G>A, NC_000002.11:g.241621628G>A

Select item 148815548415.

rs1488155484 [Homo sapiens]

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

Select item 148810484916.

rs1488104849 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:240687577 (GRCh38)
2:241626994 (GRCh37)
Canonical SPDI:: NC_000002.12:240687576:C:T
Gene:: LOC285191 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.240687577C>T, NC_000002.11:g.241626994C>T, NR_149021.1:n.1244C>T

Select item 148810124617.

rs1488101246 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:240678217 (GRCh38)
2:241617634 (GRCh37)
Canonical SPDI:: NC_000002.12:240678216:G:C
Gene:: AQP12B (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000002.12:g.240678217G>C, NC_000002.11:g.241617634G>C

Select item 148737476418.

rs1487374764 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:240682137 (GRCh38)
2:241621554 (GRCh37)
Canonical SPDI:: NC_000002.12:240682136:C:A
Gene:: AQP12B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.240682137C>A, NC_000002.11:g.241621554C>A

Select item 148729281119.

rs1487292811 has merged into rs56916969 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGGAGAGACAGAGAGAGAGAGGAGAGACAGAGAGAGA>-,GAGGAGAGACAGAGAGAGA [Show Flanks]
Chromosome:: 2:240680928 (GRCh38)
2:241620345 (GRCh37)
Canonical SPDI:: NC_000002.12:240680882:AGAGAGAGAGGAGAGACAGAGAGAGAGAGGAGAGACAGAGAGAGAGAGGAGAGACAGAGAGAGAGAGGAGAGACAGAGAGAGA:AGAGAGAGAGGAGAGACAGAGAGAGAGAGGAGAGACAGAGAGAGA,NC_000002.12:240680882:AGAGAGAGAGGAGAGACAGAGAGAGAGAGGAGAGACAGAGAGAGAGAGGAGAGACAGAGAGAGAGAGGAGAGACAGAGAGAGA:AGAGAGAGAGGAGAGACAGAGAGAGAGAGGAGAGACAGAGAGAGAGAGGAGAGACAGAGAGAGA
Gene:: AQP12B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGAGAGAGGAGAGACAGAGAGAGAGAGGAGAGACAGAGAGAGAGAGGAGAGACAGAGAGAGA=0./0 (ALFA)
HGVS:: NC_000002.12:g.240680890GAGGAGAGACAGAGAGAGA[2], NC_000002.12:g.240680890GAGGAGAGACAGAGAGAGA[3], NC_000002.11:g.241620307GAGGAGAGACAGAGAGAGA[2], NC_000002.11:g.241620307GAGGAGAGACAGAGAGAGA[3]

Select item 148722354720.

rs1487223547 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 2:240685896 (GRCh38)
2:241625313 (GRCh37)
Canonical SPDI:: NC_000002.12:240685895:G:A,NC_000002.12:240685895:G:C
Gene:: LOC285191 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.240685896G>A, NC_000002.12:g.240685896G>C, NC_000002.11:g.241625313G>A, NC_000002.11:g.241625313G>C

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