SNP Links for Nucleotide (Select 341865533) - SNP

Warning: The NCBI web site requires JavaScript to function. more...

Links from Nucleotide

Items: 1 to 20 of 4472

<< First< Prev

Page of 224

Next >Last >>

Select item 14915322001.

rs1491532200 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CGGGG,TGGGG [Show Flanks]
Chromosome:: 18:26862997 (GRCh38)
18:24442962 (GRCh37)
Canonical SPDI:: NC_000018.10:26862997:GGGG:GGGGCGGGG,NC_000018.10:26862997:GGGG:GGGGTGGGG
Gene:: AQP4 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GGGGTGGGG=0./0 (ALFA)
GGGGC=0.00067/1 (Korea1K)
HGVS:: NC_000018.10:g.26862998_26863001G[4]CGGGG[1], NC_000018.10:g.26862998_26863001G[4]TGGGG[1], NC_000018.9:g.24442962_24442965G[4]CGGGG[1], NC_000018.9:g.24442962_24442965G[4]TGGGG[1], NG_029560.1:g.7752_7755C[4]GCCCC[1], NG_029560.1:g.7752_7755C[4]ACCCC[1], XM_011525942.4:c.-29_-26C[4]GCCCC[1], XM_011525942.4:c.-29_-26C[4]ACCCC[1], XM_011525942.3:c.-29_-26C[4]GCCCC[1], XM_011525942.3:c.-29_-26C[4]ACCCC[1], XM_011525942.2:c.-29_-26C[4]GCCCC[1], XM_011525942.2:c.-29_-26C[4]ACCCC[1], XM_011525942.1:c.-29_-26C[4]GCCCC[1], XM_011525942.1:c.-29_-26C[4]ACCCC[1]

Select item 14912612032.

rs1491261203 [Homo sapiens]

Variant type:: INS
Alleles:: ->TG [Show Flanks]
Chromosome:: 18:26863994 (GRCh38)
18:24443959 (GRCh37)
Canonical SPDI:: NC_000018.10:26863994::TG
Gene:: AQP4 (Varview), AQP4-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: TG=0./0 (ALFA)
TG=0.000022/3 (GnomAD)
HGVS:: NC_000018.10:g.26863994_26863995insTG, NC_000018.9:g.24443958_24443959insTG, NG_029560.1:g.6758_6759insCA, XM_011525942.4:c.-1023_-1022insCA

Select item 14911311253.

rs1491131125 has merged into rs745810573 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGGG>-,G,GG,GGG,GGGGG,GGGGGG,GGGGGGG,GGGGGGGG,GGGGGGGGG,GGGGGGGGGG [Show Flanks]
Chromosome:: 18:26863005 (GRCh38)
18:24442969 (GRCh37)
Canonical SPDI:: NC_000018.10:26862996:GGGGGGGGGGGG:GGGGGGGG,NC_000018.10:26862996:GGGGGGGGGGGG:GGGGGGGGG,NC_000018.10:26862996:GGGGGGGGGGGG:GGGGGGGGGG,NC_000018.10:26862996:GGGGGGGGGGGG:GGGGGGGGGGG,NC_000018.10:26862996:GGGGGGGGGGGG:GGGGGGGGGGGGG,NC_000018.10:26862996:GGGGGGGGGGGG:GGGGGGGGGGGGGG,NC_000018.10:26862996:GGGGGGGGGGGG:GGGGGGGGGGGGGGG,NC_000018.10:26862996:GGGGGGGGGGGG:GGGGGGGGGGGGGGGG,NC_000018.10:26862996:GGGGGGGGGGGG:GGGGGGGGGGGGGGGGG,NC_000018.10:26862996:GGGGGGGGGGGG:GGGGGGGGGGGGGGGGGG
Gene:: AQP4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGGG=0./0 (ALFA)
HGVS:: NC_000018.10:g.26863005_26863008del, NC_000018.10:g.26863006_26863008del, NC_000018.10:g.26863007_26863008del, NC_000018.10:g.26863008del, NC_000018.10:g.26863008dup, NC_000018.10:g.26863007_26863008dup, NC_000018.10:g.26863006_26863008dup, NC_000018.10:g.26863005_26863008dup, NC_000018.10:g.26863004_26863008dup, NC_000018.10:g.26863003_26863008dup, NC_000018.9:g.24442969_24442972del, NC_000018.9:g.24442970_24442972del, NC_000018.9:g.24442971_24442972del, NC_000018.9:g.24442972del, NC_000018.9:g.24442972dup, NC_000018.9:g.24442971_24442972dup, NC_000018.9:g.24442970_24442972dup, NC_000018.9:g.24442969_24442972dup, NC_000018.9:g.24442968_24442972dup, NC_000018.9:g.24442967_24442972dup, NG_029560.1:g.7753_7756del, NG_029560.1:g.7754_7756del, NG_029560.1:g.7755_7756del, NG_029560.1:g.7756del, NG_029560.1:g.7756dup, NG_029560.1:g.7755_7756dup, NG_029560.1:g.7754_7756dup, NG_029560.1:g.7753_7756dup, NG_029560.1:g.7752_7756dup, NG_029560.1:g.7751_7756dup, XM_011525942.4:c.-28_-25del, XM_011525942.4:c.-27_-25del, XM_011525942.4:c.-26_-25del, XM_011525942.4:c.-25del, XM_011525942.4:c.-25dup, XM_011525942.4:c.-26_-25dup, XM_011525942.4:c.-27_-25dup, XM_011525942.4:c.-28_-25dup, XM_011525942.4:c.-29_-25dup, XM_011525942.4:c.-30_-25dup, XM_011525942.3:c.-28_-25del, XM_011525942.3:c.-27_-25del, XM_011525942.3:c.-26_-25del, XM_011525942.3:c.-25del, XM_011525942.3:c.-25dup, XM_011525942.3:c.-26_-25dup, XM_011525942.3:c.-27_-25dup, XM_011525942.3:c.-28_-25dup, XM_011525942.3:c.-29_-25dup, XM_011525942.3:c.-30_-25dup, XM_011525942.2:c.-28_-25del, XM_011525942.2:c.-27_-25del, XM_011525942.2:c.-26_-25del, XM_011525942.2:c.-25del, XM_011525942.2:c.-25dup, XM_011525942.2:c.-26_-25dup, XM_011525942.2:c.-27_-25dup, XM_011525942.2:c.-28_-25dup, XM_011525942.2:c.-29_-25dup, XM_011525942.2:c.-30_-25dup, XM_011525942.1:c.-28_-25del, XM_011525942.1:c.-27_-25del, XM_011525942.1:c.-26_-25del, XM_011525942.1:c.-25del, XM_011525942.1:c.-25dup, XM_011525942.1:c.-26_-25dup, XM_011525942.1:c.-27_-25dup, XM_011525942.1:c.-28_-25dup, XM_011525942.1:c.-29_-25dup, XM_011525942.1:c.-30_-25dup

Select item 14909795064.

rs1490979506 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:26857633 (GRCh38)
18:24437597 (GRCh37)
Canonical SPDI:: NC_000018.10:26857632:A:G
Gene:: AQP4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.26857633A>G, NC_000018.9:g.24437597A>G, NG_029560.1:g.13120T>C

Select item 14907499335.

rs1490749933 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:26851957 (GRCh38)
18:24431921 (GRCh37)
Canonical SPDI:: NC_000018.10:26851956:C:T
Gene:: AQP4 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
HGVS:: NC_000018.10:g.26851957C>T, NC_000018.9:g.24431921C>T, NG_029560.1:g.18796G>A

Select item 14906835246.

rs1490683524 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 18:26853267 (GRCh38)
18:24433231 (GRCh37)
Canonical SPDI:: NC_000018.10:26853266:A:C
Gene:: AQP4 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000019/5 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000018.10:g.26853267A>C, NC_000018.9:g.24433231A>C, NG_029560.1:g.17486T>G, NM_001650.7:c.*2944T>G, NM_001650.6:c.*2944T>G, NM_001650.5:c.*2944T>G, NM_001650.4:c.*2944T>G, NM_004028.5:c.*2944T>G, NM_004028.4:c.*2944T>G, NM_004028.3:c.*2944T>G, NM_001317384.3:c.*2857T>G, NM_001317384.2:c.*2857T>G, NM_001317384.1:c.*2857T>G, NM_001317387.3:c.*2944T>G, NM_001317387.2:c.*2944T>G, NM_001317387.1:c.*2944T>G, NM_001364289.2:c.*2857T>G, NM_001364289.1:c.*2857T>G, NM_001364287.1:c.*2857T>G, NM_001364286.1:c.*2944T>G, XM_011525942.4:c.*2944T>G, XM_011525942.3:c.*2944T>G, XM_011525942.2:c.*2944T>G, XM_011525942.1:c.*2944T>G

Select item 14905680477.

rs1490568047 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:26861884 (GRCh38)
18:24441848 (GRCh37)
Canonical SPDI:: NC_000018.10:26861883:T:C
Gene:: AQP4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000018.10:g.26861884T>C, NC_000018.9:g.24441848T>C, NG_029560.1:g.8869A>G

Select item 14905470648.

rs1490547064 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:26862213 (GRCh38)
18:24442177 (GRCh37)
Canonical SPDI:: NC_000018.10:26862212:G:A
Gene:: AQP4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.26862213G>A, NC_000018.9:g.24442177G>A, NG_029560.1:g.8540C>T, NM_001650.7:c.416C>T, NM_001650.6:c.416C>T, NM_001650.5:c.416C>T, NM_001650.4:c.416C>T, NM_004028.5:c.350C>T, NM_004028.4:c.350C>T, NM_004028.3:c.350C>T, NM_001317384.3:c.416C>T, NM_001317384.2:c.416C>T, NM_001317384.1:c.416C>T, NM_001317387.3:c.416C>T, NM_001317387.2:c.416C>T, NM_001317387.1:c.416C>T, NM_001364289.2:c.350C>T, NM_001364289.1:c.350C>T, NM_001364287.1:c.350C>T, NM_001364286.1:c.350C>T, XM_011525942.4:c.395C>T, XM_011525942.3:c.395C>T, XM_011525942.2:c.395C>T, XM_011525942.1:c.395C>T, NP_001641.1:p.Pro139Leu, NP_004019.1:p.Pro117Leu, NP_001304313.1:p.Pro139Leu, NP_001304316.1:p.Pro139Leu, NP_001351218.1:p.Pro117Leu, NP_001351216.1:p.Pro117Leu, NP_001351215.1:p.Pro117Leu, XP_011524244.1:p.Pro132Leu

Select item 14904572199.

rs1490457219 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 18:26868961 (GRCh38)
18:24448925 (GRCh37)
Canonical SPDI:: NC_000018.10:26868960:C:A
Gene:: AQP4-AS1 (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_000018.10:g.26868961C>A, NC_000018.9:g.24448925C>A, NG_029560.1:g.1792G>T

Select item 149035415310.

rs1490354153 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 18:26858839 (GRCh38)
18:24438803 (GRCh37)
Canonical SPDI:: NC_000018.10:26858838:T:A
Gene:: AQP4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000018.10:g.26858839T>A, NC_000018.9:g.24438803T>A, NG_029560.1:g.11914A>T

Select item 149019423011.

rs1490194230 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:26852645 (GRCh38)
18:24432609 (GRCh37)
Canonical SPDI:: NC_000018.10:26852644:C:T
Gene:: AQP4 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000018.10:g.26852645C>T, NC_000018.9:g.24432609C>T, NG_029560.1:g.18108G>A, NM_001650.7:c.*3566G>A, NM_001650.6:c.*3566G>A, NM_001650.5:c.*3566G>A, NM_001650.4:c.*3566G>A, NM_004028.5:c.*3566G>A, NM_004028.4:c.*3566G>A, NM_004028.3:c.*3566G>A, NM_001317384.3:c.*3479G>A, NM_001317384.2:c.*3479G>A, NM_001317384.1:c.*3479G>A, NM_001317387.3:c.*3566G>A, NM_001317387.2:c.*3566G>A, NM_001317387.1:c.*3566G>A, NM_001364289.2:c.*3479G>A, NM_001364289.1:c.*3479G>A, NM_001364287.1:c.*3479G>A, NM_001364286.1:c.*3566G>A, XM_011525942.4:c.*3566G>A, XM_011525942.3:c.*3566G>A, XM_011525942.2:c.*3566G>A, XM_011525942.1:c.*3566G>A

Select item 148962001512.

rs1489620015 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 18:26864562 (GRCh38)
18:24444526 (GRCh37)
Canonical SPDI:: NC_000018.10:26864561:G:C
Gene:: AQP4 (Varview), AQP4-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000036/5 (GnomAD)
C=0.000045/12 (TOPMED)
HGVS:: NC_000018.10:g.26864562G>C, NC_000018.9:g.24444526G>C, NG_029560.1:g.6191C>G, XM_011525942.4:c.-1590C>G

Select item 148953411813.

rs1489534118 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:26858955 (GRCh38)
18:24438919 (GRCh37)
Canonical SPDI:: NC_000018.10:26858954:T:C
Gene:: AQP4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000018.10:g.26858955T>C, NC_000018.9:g.24438919T>C, NG_029560.1:g.11798A>G

Select item 148941925514.

rs1489419255 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:26863582 (GRCh38)
18:24443546 (GRCh37)
Canonical SPDI:: NC_000018.10:26863581:A:G
Gene:: AQP4 (Varview), AQP4-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000018.10:g.26863582A>G, NC_000018.9:g.24443546A>G, NG_029560.1:g.7171T>C, XM_011525942.4:c.-610T>C

Select item 148937009415.

rs1489370094 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 18:26870653 (GRCh38)
18:24450617 (GRCh37)
Canonical SPDI:: NC_000018.10:26870652:AA:A
Gene:: AQP4-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.26870654del, NC_000018.9:g.24450618del, NG_029560.1:g.100del

Select item 148917782216.

rs1489177822 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:26854049 (GRCh38)
18:24434013 (GRCh37)
Canonical SPDI:: NC_000018.10:26854048:A:G
Gene:: AQP4 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000018.10:g.26854049A>G, NC_000018.9:g.24434013A>G, NG_029560.1:g.16704T>C, NM_001650.7:c.*2162T>C, NM_001650.6:c.*2162T>C, NM_001650.5:c.*2162T>C, NM_001650.4:c.*2162T>C, NM_004028.5:c.*2162T>C, NM_004028.4:c.*2162T>C, NM_004028.3:c.*2162T>C, NM_001317384.3:c.*2075T>C, NM_001317384.2:c.*2075T>C, NM_001317384.1:c.*2075T>C, NM_001317387.3:c.*2162T>C, NM_001317387.2:c.*2162T>C, NM_001317387.1:c.*2162T>C, NM_001364289.2:c.*2075T>C, NM_001364289.1:c.*2075T>C, NM_001364287.1:c.*2075T>C, NM_001364286.1:c.*2162T>C, XM_011525942.4:c.*2162T>C, XM_011525942.3:c.*2162T>C, XM_011525942.2:c.*2162T>C, XM_011525942.1:c.*2162T>C

Select item 148912600817.

rs1489126008 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:26851191 (GRCh38)
18:24431155 (GRCh37)
Canonical SPDI:: NC_000018.10:26851190:C:T
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.26851191C>T, NC_000018.9:g.24431155C>T, NG_029560.1:g.19562G>A