SNP Links for Nucleotide (Select 216548098) - SNP

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 7:128777188 (GRCh38)
7:128417243 (GRCh37)
Canonical SPDI:: NC_000007.14:128777188:AAAA:AAAAA
Gene:: OPN1SW (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AAAAA=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.128777192dup, NC_000007.13:g.128417246dup, NG_009094.1:g.3602dup, NG_050733.1:g.1513dup

Select item 14907694088.

rs1490769408 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:128770982 (GRCh38)
7:128411036 (GRCh37)
Canonical SPDI:: NC_000007.14:128770981:A:G
Gene:: CALU (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000007.14:g.128770982A>G, NC_000007.13:g.128411036A>G, NG_033110.1:g.36691A>G, NM_001219.5:c.*1815A>G, NM_001219.4:c.*1815A>G, NM_001130674.3:c.*1815A>G, NM_001130674.2:c.*1815A>G, NM_001199672.2:c.*1815A>G, NM_001199672.1:c.*1815A>G, NM_001199671.2:c.*1815A>G, NM_001199671.1:c.*1815A>G, NM_001199673.2:c.*1888A>G, NM_001199673.1:c.*1888A>G, NR_074086.2:n.2422A>G, NR_074086.1:n.2489A>G, NG_009094.1:g.9809T>C, NM_001199674.1:c.*1815A>G

Select item 14905022819.

rs1490502281 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 7:128777697 (GRCh38)
7:128417751 (GRCh37)
Canonical SPDI:: NC_000007.14:128777696:T:A,NC_000007.14:128777696:T:G
Gene:: OPN1SW (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.128777697T>A, NC_000007.14:g.128777697T>G, NC_000007.13:g.128417751T>A, NC_000007.13:g.128417751T>G, NG_009094.1:g.3094A>T, NG_009094.1:g.3094A>C, NG_050733.1:g.2018T>A, NG_050733.1:g.2018T>G

Select item 149047744510.

rs1490477445 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:128778808 (GRCh38)
7:128418862 (GRCh37)
Canonical SPDI:: NC_000007.14:128778807:G:C
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.128778808G>C, NC_000007.13:g.128418862G>C, NG_009094.1:g.1983C>G, NG_050733.1:g.3129G>C

Select item 149016730511.

rs1490167305 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AC [Show Flanks]
Chromosome:: 7:128776800 (GRCh38)
7:128416855 (GRCh37)
Canonical SPDI:: NC_000007.14:128776800:AC:ACAC
Gene:: OPN1SW (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACAC=0./0 (ALFA)
AC=0.000004/1 (TOPMED)
AC=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.128776801_128776802dup, NC_000007.13:g.128416855_128416856dup, NG_009094.1:g.3989_3990dup, NG_050733.1:g.1122_1123dup

Select item 149016185812.

rs1490161858 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 7:128777829 (GRCh38)
7:128417883 (GRCh37)
Canonical SPDI:: NC_000007.14:128777828:A:G,NC_000007.14:128777828:A:T
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.128777829A>G, NC_000007.14:g.128777829A>T, NC_000007.13:g.128417883A>G, NC_000007.13:g.128417883A>T, NG_009094.1:g.2962T>C, NG_009094.1:g.2962T>A, NG_050733.1:g.2150A>G, NG_050733.1:g.2150A>T

Select item 148976300113.

rs1489763001 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:128770570 (GRCh38)
7:128410624 (GRCh37)
Canonical SPDI:: NC_000007.14:128770569:C:T
Gene:: CALU (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000023/6 (TOPMED)
T=0.000031/4 (GnomAD)
HGVS:: NC_000007.14:g.128770570C>T, NC_000007.13:g.128410624C>T, NG_033110.1:g.36279C>T, NM_001219.5:c.*1403C>T, NM_001219.4:c.*1403C>T, NM_001130674.3:c.*1403C>T, NM_001130674.2:c.*1403C>T, NM_001199672.2:c.*1403C>T, NM_001199672.1:c.*1403C>T, NM_001199671.2:c.*1403C>T, NM_001199671.1:c.*1403C>T, NM_001199673.2:c.*1476C>T, NM_001199673.1:c.*1476C>T, NR_074086.2:n.2010C>T, NR_074086.1:n.2077C>T, NG_009094.1:g.10221G>A, NM_001199674.1:c.*1403C>T

Select item 148959932114.

rs1489599321 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>- [Show Flanks]
Chromosome:: 7:128775340 (GRCh38)
7:128415394 (GRCh37)
Canonical SPDI:: NC_000007.14:128775337:AAAAA:AA
Gene:: OPN1SW (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.128775340_128775342del, NC_000007.13:g.128415394_128415396del, NG_033110.1:g.41049_41051del, NG_009094.1:g.5451_5453del

Select item 148881477315.

rs1488814773 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 7:128780023 (GRCh38)
7:128420078 (GRCh37)
Canonical SPDI:: NC_000007.14:128780023:A:AA
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.128780024dup, NC_000007.13:g.128420078dup, NG_009094.1:g.767dup, NG_050733.1:g.4345dup

Select item 148834113116.

rs1488341131 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 7:128773265 (GRCh38)
7:128413319 (GRCh37)
Canonical SPDI:: NC_000007.14:128773264:C:A,NC_000007.14:128773264:C:G
Gene:: OPN1SW (Varview), CALU (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.128773265C>A, NC_000007.14:g.128773265C>G, NC_000007.13:g.128413319C>A, NC_000007.13:g.128413319C>G, NG_033110.1:g.38974C>A, NG_033110.1:g.38974C>G, NM_001219.5:c.*4098C>A, NM_001219.5:c.*4098C>G, NM_001219.4:c.*4098C>A, NM_001219.4:c.*4098C>G, NM_001130674.3:c.*4098C>A, NM_001130674.3:c.*4098C>G, NM_001130674.2:c.*4098C>A, NM_001130674.2:c.*4098C>G, NM_001199672.2:c.*4098C>A, NM_001199672.2:c.*4098C>G, NM_001199672.1:c.*4098C>A, NM_001199672.1:c.*4098C>G, NM_001199671.2:c.*4098C>A, NM_001199671.2:c.*4098C>G, NM_001199671.1:c.*4098C>A, NM_001199671.1:c.*4098C>G, NM_001199673.2:c.*4171C>A, NM_001199673.2:c.*4171C>G, NM_001199673.1:c.*4171C>A, NM_001199673.1:c.*4171C>G, NR_074086.2:n.4705C>A, NR_074086.2:n.4705C>G, NR_074086.1:n.4772C>A, NR_074086.1:n.4772C>G, NG_009094.1:g.7526G>T, NG_009094.1:g.7526G>C, NM_001199674.1:c.*4098C>A, NM_001199674.1:c.*4098C>G

Select item 148773670417.

rs1487736704 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:128773742 (GRCh38)
7:128413796 (GRCh37)
Canonical SPDI:: NC_000007.14:128773741:A:G
Gene:: OPN1SW (Varview), CALU (Varview)
Functional Consequence:: downstream_transcript_variant,synonymous_variant,coding_sequence_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000012/3 (GnomAD_exomes)
G=0.000019/5 (TOPMED)
HGVS:: NC_000007.14:g.128773742A>G, NC_000007.13:g.128413796A>G, NG_033110.1:g.39451A>G, NG_009094.1:g.7049T>C, NM_001385125.1:c.825T>C, NM_001708.2:c.834T>C

Select item 148766564018.

rs1487665640 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:128775117 (GRCh38)
7:128415171 (GRCh37)
Canonical SPDI:: NC_000007.14:128775116:A:G
Gene:: OPN1SW (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.128775117A>G, NC_000007.13:g.128415171A>G, NG_033110.1:g.40826A>G, NG_009094.1:g.5674T>C, NM_001385125.1:c.381T>C, NM_001708.2:c.390T>C

Select item 148742146819.

rs1487421468 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:128778023 (GRCh38)
7:128418077 (GRCh37)
Canonical SPDI:: NC_000007.14:128778022:A:G
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.128778023A>G, NC_000007.13:g.128418077A>G, NG_009094.1:g.2768T>C, NG_050733.1:g.2344A>G

Select item 148718962120.

rs1487189621 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 7:128772279 (GRCh38)
7:128412333 (GRCh37)
Canonical SPDI:: NC_000007.14:128772278:T:A
Gene:: OPN1SW (Varview), CALU (Varview)
Functional Consequence:: non_coding_transcript_variant,downstream_transcript_variant,3_prime_UTR_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.128772279T>A, NC_000007.13:g.128412333T>A, NG_033110.1:g.37988T>A, NM_001219.5:c.*3112T>A, NM_001219.4:c.*3112T>A, NM_001130674.3:c.*3112T>A, NM_001130674.2:c.*3112T>A, NM_001199672.2:c.*3112T>A, NM_001199672.1:c.*3112T>A, NM_001199671.2:c.*3112T>A, NM_001199671.1:c.*3112T>A, NM_001199673.2:c.*3185T>A, NM_001199673.1:c.*3185T>A, NR_074086.2:n.3719T>A, NR_074086.1:n.3786T>A, NG_009094.1:g.8512A>T, NM_001199674.1:c.*3112T>A

<< First< Prev

Page of 130

Next >Last >>

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Nucleotide

Items: 1 to 20 of 2585

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity