SNP Links for Gene (Select 7056) - SNP

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Select item 14910263001.

rs1491026300 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 20:23050752 (GRCh38)
20:23031390 (GRCh37)
Canonical SPDI:: NC_000020.11:23050752:T:TT
Gene:: THBD (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
HGVS:: NC_000020.11:g.23050753dup, NC_000020.10:g.23031390dup, NG_012027.1:g.3912dup

Select item 14909013042.

rs1490901304 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:23049627 (GRCh38)
20:23030264 (GRCh37)
Canonical SPDI:: NC_000020.11:23049626:C:T
Gene:: THBD (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.23049627C>T, NC_000020.10:g.23030264C>T, NG_012027.1:g.5038G>A, NM_000361.3:c.-123G>A, NM_000361.2:c.-123G>A

Select item 14906525363.

rs1490652536 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:23047482 (GRCh38)
20:23028119 (GRCh37)
Canonical SPDI:: NC_000020.11:23047481:C:T
Gene:: THBD (Varview)
Functional Consequence:: 3_prime_UTR_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_000020.11:g.23047482C>T, NC_000020.10:g.23028119C>T, NG_012027.1:g.7183G>A, NM_000361.3:c.*295G>A, NM_000361.2:c.*295G>A

Select item 14905227444.

rs1490522744 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:23045281 (GRCh38)
20:23025918 (GRCh37)
Canonical SPDI:: NC_000020.11:23045280:C:T
Gene:: THBD (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.23045281C>T, NC_000020.10:g.23025918C>T, NG_012027.1:g.9384G>A

Select item 14903919305.

rs1490391930 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 20:23049372 (GRCh38)
20:23030009 (GRCh37)
Canonical SPDI:: NC_000020.11:23049371:A:C
Gene:: THBD (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.23049372A>C, NC_000020.10:g.23030009A>C, NG_012027.1:g.5293T>G, NM_000361.3:c.133T>G, NM_000361.2:c.133T>G, NP_000352.1:p.Phe45Val

Select item 14903854146.

rs1490385414 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 20:23048816 (GRCh38)
20:23029453 (GRCh37)
Canonical SPDI:: NC_000020.11:23048815:G:T
Gene:: THBD (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0.000112/1 (ALFA)
T=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.23048816G>T, NC_000020.10:g.23029453G>T, NG_012027.1:g.5849C>A, NM_000361.3:c.689C>A, NM_000361.2:c.689C>A, NP_000352.1:p.Ala230Glu

Select item 14895364447.

rs1489536444 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 20:23049088 (GRCh38)
20:23029725 (GRCh37)
Canonical SPDI:: NC_000020.11:23049087:A:T
Gene:: THBD (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.23049088A>T, NC_000020.10:g.23029725A>T, NG_012027.1:g.5577T>A, NM_000361.3:c.417T>A, NM_000361.2:c.417T>A

Select item 14891209858.

rs1489120985 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:23047683 (GRCh38)
20:23028320 (GRCh37)
Canonical SPDI:: NC_000020.11:23047682:C:T
Gene:: THBD (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.23047683C>T, NC_000020.10:g.23028320C>T, NG_012027.1:g.6982G>A, NM_000361.3:c.*94G>A, NM_000361.2:c.*94G>A

Select item 14884618329.

rs1488461832 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:23045455 (GRCh38)
20:23026092 (GRCh37)
Canonical SPDI:: NC_000020.11:23045454:G:A
Gene:: THBD (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.23045455G>A, NC_000020.10:g.23026092G>A, NG_012027.1:g.9210C>T

Select item 148805280210.

rs1488052802 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:23046533 (GRCh38)
20:23027170 (GRCh37)
Canonical SPDI:: NC_000020.11:23046532:G:A
Gene:: THBD (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000020.11:g.23046533G>A, NC_000020.10:g.23027170G>A, NG_012027.1:g.8132C>T, NM_000361.3:c.*1244C>T, NM_000361.2:c.*1244C>T

Select item 148768836811.

rs1487688368 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 20:23047151 (GRCh38)
20:23027788 (GRCh37)
Canonical SPDI:: NC_000020.11:23047150:G:T
Gene:: THBD (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.23047151G>T, NC_000020.10:g.23027788G>T, NG_012027.1:g.7514C>A, NM_000361.3:c.*626C>A, NM_000361.2:c.*626C>A

Select item 148660785812.

rs1486607858 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:23045618 (GRCh38)
20:23026255 (GRCh37)
Canonical SPDI:: NC_000020.11:23045617:C:T
Gene:: THBD (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.23045618C>T, NC_000020.10:g.23026255C>T, NG_012027.1:g.9047G>A

Select item 148572904813.

rs1485729048 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:23046121 (GRCh38)
20:23026758 (GRCh37)
Canonical SPDI:: NC_000020.11:23046120:G:A
Gene:: THBD (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.23046121G>A, NC_000020.10:g.23026758G>A, NG_012027.1:g.8544C>T, NM_000361.3:c.*1656C>T, NM_000361.2:c.*1656C>T

Select item 148543274414.

rs1485432744 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:23048652 (GRCh38)
20:23029289 (GRCh37)
Canonical SPDI:: NC_000020.11:23048651:T:C
Gene:: THBD (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.23048652T>C, NC_000020.10:g.23029289T>C, NG_012027.1:g.6013A>G, NM_000361.3:c.853A>G, NM_000361.2:c.853A>G, NP_000352.1:p.Thr285Ala

Select item 148540241915.

rs1485402419 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 20:23048479 (GRCh38)
20:23029116 (GRCh37)
Canonical SPDI:: NC_000020.11:23048478:G:C
Gene:: THBD (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.23048479G>C, NC_000020.10:g.23029116G>C, NG_012027.1:g.6186C>G, NM_000361.3:c.1026C>G, NM_000361.2:c.1026C>G, NP_000352.1:p.Asn342Lys

Select item 148531066416.

rs1485310664 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:23047872 (GRCh38)
20:23028509 (GRCh37)
Canonical SPDI:: NC_000020.11:23047871:C:T
Gene:: THBD (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.23047872C>T, NC_000020.10:g.23028509C>T, NG_012027.1:g.6793G>A, NM_000361.3:c.1633G>A, NM_000361.2:c.1633G>A, NP_000352.1:p.Ala545Thr

Select item 148530352617.

rs1485303526 [Homo sapiens]

Variant type:: DEL
Alleles:: TGTCAGGGCGCCGAAGTCCGGACCCG>- [Show Flanks]
Chromosome:: 20:23050437 (GRCh38)
20:23031074 (GRCh37)
Canonical SPDI:: NC_000020.11:23050436:TGTCAGGGCGCCGAAGTCCGGACCCG:
Gene:: THBD (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000306/5 (ALFA)
-=0.000312/2 (1000Genomes)
-=0.000442/62 (GnomAD)
-=0.001116/5 (Estonian)
-=0.005/3 (NorthernSweden)
HGVS:: NC_000020.11:g.23050437_23050462del, NC_000020.10:g.23031074_23031099del, NG_012027.1:g.4203_4228del

Select item 148495880818.

rs1484958808 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 20:23051131 (GRCh38)
20:23031768 (GRCh37)
Canonical SPDI:: NC_000020.11:23051130:T:G
Gene:: THBD (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.23051131T>G, NC_000020.10:g.23031768T>G, NG_012027.1:g.3534A>C

Select item 148437350919.

rs1484373509 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:23051339 (GRCh38)
20:23031976 (GRCh37)
Canonical SPDI:: NC_000020.11:23051338:C:T
Gene:: THBD (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.23051339C>T, NC_000020.10:g.23031976C>T, NG_012027.1:g.3326G>A

Select item 148373234020.

rs1483732340 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:23048404 (GRCh38)
20:23029041 (GRCh37)
Canonical SPDI:: NC_000020.11:23048403:G:A
Gene:: THBD (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000111/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000566/9 (TOMMO)
HGVS:: NC_000020.11:g.23048404G>A, NC_000020.10:g.23029041G>A, NG_012027.1:g.6261C>T, NM_000361.3:c.1101C>T, NM_000361.2:c.1101C>T

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