SNP Links for Protein (Select 116534900) - SNP

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

Links from Protein

Items: 1 to 20 of 774

<< First< Prev

Page of 39

Next >Last >>

Select item 14903999841.

rs1490399984 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 9:133657165 (GRCh38)
9:136522287 (GRCh37)
Canonical SPDI:: NC_000009.12:133657164:A:C,NC_000009.12:133657164:A:G
Gene:: DBH (Varview), DBH-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
HGVS:: NC_000009.12:g.133657165A>C, NC_000009.12:g.133657165A>G, NC_000009.11:g.136522287A>C, NC_000009.11:g.136522287A>G, NG_008645.1:g.25803A>C, NG_008645.1:g.25803A>G, NM_000787.4:c.1658A>C, NM_000787.4:c.1658A>G, NM_000787.3:c.1658A>C, NM_000787.3:c.1658A>G, NR_102735.1:n.244T>G, NR_102735.1:n.244T>C, NR_002783.1:n.327T>G, NR_002783.1:n.327T>C, NP_000778.3:p.Lys553Thr, NP_000778.3:p.Lys553Arg

Select item 14874556362.

rs1487455636 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAGGC>- [Show Flanks]
Chromosome:: 9:133658439 (GRCh38)
9:136523561 (GRCh37)
Canonical SPDI:: NC_000009.12:133658435:GGCAAAGGC:GGC
Gene:: DBH (Varview), DBH-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,inframe_deletion,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: GGC=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.133658439_133658444del, NC_000009.11:g.136523561_136523566del, NG_008645.1:g.27077_27082del, NM_000787.4:c.1846_1851del, NM_000787.3:c.1846_1851del, NP_000778.3:p.Lys616_Gly617del

Select item 14860056083.

rs1486005608 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:133642415 (GRCh38)
9:136507537 (GRCh37)
Canonical SPDI:: NC_000009.12:133642414:G:A
Gene:: DBH (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.133642415G>A, NC_000009.11:g.136507537G>A, NG_008645.1:g.11053G>A, NM_000787.4:c.695G>A, NM_000787.3:c.695G>A, NP_000778.3:p.Cys232Tyr

Select item 14851663524.

rs1485166352 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:133644273 (GRCh38)
9:136509395 (GRCh37)
Canonical SPDI:: NC_000009.12:133644272:G:A
Gene:: DBH (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.133644273G>A, NC_000009.11:g.136509395G>A, NG_008645.1:g.12911G>A, NM_000787.4:c.977G>A, NM_000787.3:c.977G>A, NP_000778.3:p.Arg326Lys

Select item 14841414915.

rs1484141491 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:133636565 (GRCh38)
9:136501687 (GRCh37)
Canonical SPDI:: NC_000009.12:133636564:T:C
Gene:: DBH (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000051/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.133636565T>C, NC_000009.11:g.136501687T>C, NG_008645.1:g.5203T>C, NM_000787.4:c.194T>C, NM_000787.3:c.194T>C, NP_000778.3:p.Val65Ala

Select item 14821172266.

rs1482117226 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 9:133636504 (GRCh38)
9:136501626 (GRCh37)
Canonical SPDI:: NC_000009.12:133636503:A:C
Gene:: DBH (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.133636504A>C, NC_000009.11:g.136501626A>C, NG_008645.1:g.5142A>C, NM_000787.4:c.133A>C, NM_000787.3:c.133A>C, NP_000778.3:p.Ser45Arg

Select item 14812901407.

rs1481290140 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 9:133658387 (GRCh38)
9:136523509 (GRCh37)
Canonical SPDI:: NC_000009.12:133658386:C:G,NC_000009.12:133658386:C:T
Gene:: DBH (Varview), DBH-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,synonymous_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000045/2 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000009.12:g.133658387C>G, NC_000009.12:g.133658387C>T, NC_000009.11:g.136523509C>G, NC_000009.11:g.136523509C>T, NG_008645.1:g.27025C>G, NG_008645.1:g.27025C>T, NM_000787.4:c.1794C>G, NM_000787.4:c.1794C>T, NM_000787.3:c.1794C>G, NM_000787.3:c.1794C>T

Select item 14793436478.

rs1479343647 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTGCA>- [Show Flanks]
Chromosome:: 9:133657199 (GRCh38)
9:136522321 (GRCh37)
Canonical SPDI:: NC_000009.12:133657194:TGCACTGCA:TGCA
Gene:: DBH (Varview), DBH-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,frameshift_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: TGCA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000009.12:g.133657199_133657203del, NC_000009.11:g.136522321_136522325del, NG_008645.1:g.25837_25841del, NM_000787.4:c.1692_1696del, NM_000787.3:c.1692_1696del, NR_102735.1:n.210_214del, NR_002783.1:n.293_297del, NP_000778.3:p.His564fs

Select item 14783518789.

rs1478351878 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 9:133647913 (GRCh38)
9:136513035 (GRCh37)
Canonical SPDI:: NC_000009.12:133647912:C:A,NC_000009.12:133647912:C:T
Gene:: DBH (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000051/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.133647913C>A, NC_000009.12:g.133647913C>T, NC_000009.11:g.136513035C>A, NC_000009.11:g.136513035C>T, NG_008645.1:g.16551C>A, NG_008645.1:g.16551C>T, NM_000787.4:c.1092C>A, NM_000787.4:c.1092C>T, NM_000787.3:c.1092C>A, NM_000787.3:c.1092C>T

Select item 147785167110.

rs1477851671 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 9:133658326 (GRCh38)
9:136523448 (GRCh37)
Canonical SPDI:: NC_000009.12:133658325:A:C
Gene:: DBH (Varview), DBH-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.133658326A>C, NC_000009.11:g.136523448A>C, NG_008645.1:g.26964A>C, NM_000787.4:c.1733A>C, NM_000787.3:c.1733A>C, NP_000778.3:p.Asn578Thr

Select item 147512435211.

rs1475124352 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 9:133642348 (GRCh38)
9:136507470 (GRCh37)
Canonical SPDI:: NC_000009.12:133642347:G:C
Gene:: DBH (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.133642348G>C, NC_000009.11:g.136507470G>C, NG_008645.1:g.10986G>C, NM_000787.4:c.628G>C, NM_000787.3:c.628G>C, NP_000778.3:p.Asp210His

Select item 147453536212.

rs1474535362 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACGTGCTGGCCGCC>- [Show Flanks]
Chromosome:: 9:133643558 (GRCh38)
9:136508680 (GRCh37)
Canonical SPDI:: NC_000009.12:133643551:GCCGCCACGTGCTGGCCGCC:GCCGCC
Gene:: DBH (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GCCGCC=0.000224/1 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000223/1 (Estonian)
HGVS:: NC_000009.12:g.133643558_133643571del, NC_000009.11:g.136508680_136508693del, NG_008645.1:g.12196_12209del, NM_000787.4:c.890_903del, NM_000787.3:c.890_903del, NP_000778.3:p.His297fs

Select item 147377530313.

rs1473775303 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:133651717 (GRCh38)
9:136516839 (GRCh37)
Canonical SPDI:: NC_000009.12:133651716:C:T
Gene:: DBH (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.133651717C>T, NC_000009.11:g.136516839C>T, NG_008645.1:g.20355C>T, NM_000787.4:c.1275C>T, NM_000787.3:c.1275C>T

Select item 147148972114.

rs1471489721 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:133639964 (GRCh38)
9:136505086 (GRCh37)
Canonical SPDI:: NC_000009.12:133639963:C:T
Gene:: DBH (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000009.12:g.133639964C>T, NC_000009.11:g.136505086C>T, NG_008645.1:g.8602C>T, NM_000787.4:c.458C>T, NM_000787.3:c.458C>T, NP_000778.3:p.Thr153Ile

Select item 146990753115.

rs1469907531 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:133642378 (GRCh38)
9:136507500 (GRCh37)
Canonical SPDI:: NC_000009.12:133642377:A:G
Gene:: DBH (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.133642378A>G, NC_000009.11:g.136507500A>G, NG_008645.1:g.11016A>G, NM_000787.4:c.658A>G, NM_000787.3:c.658A>G, NP_000778.3:p.Asn220Asp

Select item 146602705916.

rs1466027059 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 9:133636668 (GRCh38)
9:136501790 (GRCh37)
Canonical SPDI:: NC_000009.12:133636667:T:A,NC_000009.12:133636667:T:C
Gene:: DBH (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,missense_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_000009.12:g.133636668T>A, NC_000009.12:g.133636668T>C, NC_000009.11:g.136501790T>A, NC_000009.11:g.136501790T>C, NG_008645.1:g.5306T>A, NG_008645.1:g.5306T>C, NM_000787.4:c.297T>A, NM_000787.4:c.297T>C, NM_000787.3:c.297T>A, NM_000787.3:c.297T>C, NP_000778.3:p.Asp99Glu

Select item 146589746917.

rs1465897469 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:133643557 (GRCh38)
9:136508679 (GRCh37)
Canonical SPDI:: NC_000009.12:133643556:C:T
Gene:: DBH (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.133643557C>T, NC_000009.11:g.136508679C>T, NG_008645.1:g.12195C>T, NM_000787.4:c.889C>T, NM_000787.3:c.889C>T, NP_000778.3:p.His297Tyr

Select item 146549928718.

rs1465499287 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:133636445 (GRCh38)
9:136501567 (GRCh37)
Canonical SPDI:: NC_000009.12:133636444:C:T
Gene:: DBH (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.133636445C>T, NC_000009.11:g.136501567C>T, NG_008645.1:g.5083C>T, NM_000787.4:c.74C>T, NM_000787.3:c.74C>T, NP_000778.3:p.Ala25Val

Select item 146222981819.

rs1462229818 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:133644303 (GRCh38)
9:136509425 (GRCh37)
Canonical SPDI:: NC_000009.12:133644302:A:G
Gene:: DBH (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.133644303A>G, NC_000009.11:g.136509425A>G, NG_008645.1:g.12941A>G, NM_000787.4:c.1007A>G, NM_000787.3:c.1007A>G, NP_000778.3:p.Asn336Ser

Select item 146081449620.

rs1460814496 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:133657182 (GRCh38)
9:136522304 (GRCh37)
Canonical SPDI:: NC_000009.12:133657181:G:A
Gene:: DBH (Varview), DBH-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000009.12:g.133657182G>A, NC_000009.11:g.136522304G>A, NG_008645.1:g.25820G>A, NM_000787.4:c.1675G>A, NM_000787.3:c.1675G>A, NR_102735.1:n.227C>T, NR_002783.1:n.310C>T, NP_000778.3:p.Ala559Thr

<< First< Prev

Page of 39

Next >Last >>

Supplemental Content

Filters: Manage Filters

Find related data

Recent activity

Clear Turn Off Turn On

SNP Links for Protein (Select 116534900) (774)
SNP

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to: