SNP Links for Gene (Select 54606) - SNP

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Select item 14910393901.

rs1491039390 [Homo sapiens]

Variant type:: DEL
Alleles:: CG>- [Show Flanks]
Chromosome:: 7:44568228 (GRCh38)
7:44607827 (GRCh37)
Canonical SPDI:: NC_000007.14:44568227:CG:
Gene:: DDX56 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.44568228_44568229del, NC_000007.13:g.44607827_44607828del

Select item 14909303812.

rs1490930381 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 7:44573118 (GRCh38)
7:44612717 (GRCh37)
Canonical SPDI:: NC_000007.14:44573117:TT:T
Gene:: DDX56 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0.000071/1 (ALFA)
-=0.000057/8 (GnomAD)
-=0.000079/21 (TOPMED)
HGVS:: NC_000007.14:g.44573119del, NC_000007.13:g.44612718del

Select item 14907153783.

rs1490715378 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:44573976 (GRCh38)
7:44613575 (GRCh37)
Canonical SPDI:: NC_000007.14:44573975:G:A
Gene:: DDX56 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.44573976G>A, NC_000007.13:g.44613575G>A, NM_019082.3:c.-81C>T, NM_001257189.1:c.-81C>T

Select item 14904318394.

rs1490431839 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 7:44566125 (GRCh38)
7:44605724 (GRCh37)
Canonical SPDI:: NC_000007.14:44566123:AGA:A
Gene:: DDX56 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000007.14:g.44566125_44566126del, NC_000007.13:g.44605724_44605725del

Select item 14903546655.

rs1490354665 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 7:44565244 (GRCh38)
7:44604843 (GRCh37)
Canonical SPDI:: NC_000007.14:44565243:T:G
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000007.14:g.44565244T>G, NC_000007.13:g.44604843T>G

Select item 14902247536.

rs1490224753 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:44574287 (GRCh38)
7:44613886 (GRCh37)
Canonical SPDI:: NC_000007.14:44574286:C:T
Gene:: DDX56 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.44574287C>T, NC_000007.13:g.44613886C>T, NM_019082.3:c.-392G>A, NM_001257189.1:c.-392G>A

Select item 14898875967.

rs1489887596 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 7:44565956 (GRCh38)
7:44605555 (GRCh37)
Canonical SPDI:: NC_000007.14:44565955:A:T
Gene:: DDX56 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.44565956A>T, NC_000007.13:g.44605555A>T, NM_019082.4:c.*46T>A, NM_019082.3:c.*46T>A, NM_001257189.2:c.*46T>A, NM_001257189.1:c.*46T>A

Select item 14898634448.

rs1489863444 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:44565525 (GRCh38)
7:44605124 (GRCh37)
Canonical SPDI:: NC_000007.14:44565524:G:C
Gene:: DDX56 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.44565525G>C, NC_000007.13:g.44605124G>C, NM_019082.3:c.*477C>G, NM_001257189.1:c.*477C>G

Select item 14897073839.

rs1489707383 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:44572061 (GRCh38)
7:44611660 (GRCh37)
Canonical SPDI:: NC_000007.14:44572060:C:A
Gene:: DDX56 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.44572061C>A, NC_000007.13:g.44611660C>A

Select item 148812575010.

rs1488125750 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:44569028 (GRCh38)
7:44608627 (GRCh37)
Canonical SPDI:: NC_000007.14:44569027:T:C
Gene:: DDX56 (Varview)
Functional Consequence:: intron_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_000007.14:g.44569028T>C, NC_000007.13:g.44608627T>C

Select item 148799594511.

rs1487995945 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:44566187 (GRCh38)
7:44605786 (GRCh37)
Canonical SPDI:: NC_000007.14:44566186:G:A
Gene:: DDX56 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: A=0.000008/1 (GnomAD)
HGVS:: NC_000007.14:g.44566187G>A, NC_000007.13:g.44605786G>A

Select item 148788887712.

rs1487888877 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:44566024 (GRCh38)
7:44605623 (GRCh37)
Canonical SPDI:: NC_000007.14:44566023:C:G
Gene:: DDX56 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.44566024C>G, NC_000007.13:g.44605623C>G, NM_019082.4:c.1622G>C, NM_019082.3:c.1622G>C, NM_001257189.2:c.1502G>C, NM_001257189.1:c.1502G>C, NP_061955.1:p.Arg541Thr, NP_001244118.1:p.Arg501Thr

Select item 148782203113.

rs1487822031 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:44572687 (GRCh38)
7:44612286 (GRCh37)
Canonical SPDI:: NC_000007.14:44572686:G:A
Gene:: DDX56 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.44572687G>A, NC_000007.13:g.44612286G>A, NM_019082.4:c.441C>T, NM_019082.3:c.441C>T, NM_001257189.2:c.441C>T, NM_001257189.1:c.441C>T

Select item 148782053614.

rs1487820536 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:44566205 (GRCh38)
7:44605804 (GRCh37)
Canonical SPDI:: NC_000007.14:44566204:T:C
Gene:: DDX56 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000033/4 (GnomAD)
C=0.000042/11 (TOPMED)
HGVS:: NC_000007.14:g.44566205T>C, NC_000007.13:g.44605804T>C

Select item 148765420415.

rs1487654204 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:44566290 (GRCh38)
7:44605889 (GRCh37)
Canonical SPDI:: NC_000007.14:44566289:C:T
Gene:: DDX56 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000007.14:g.44566290C>T, NC_000007.13:g.44605889C>T

Select item 148749277416.

rs1487492774 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:44572175 (GRCh38)
7:44611774 (GRCh37)
Canonical SPDI:: NC_000007.14:44572174:G:A
Gene:: DDX56 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.44572175G>A, NC_000007.13:g.44611774G>A

Select item 148700816917.

rs1487008169 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 7:44567093 (GRCh38)
7:44606692 (GRCh37)
Canonical SPDI:: NC_000007.14:44567092:T:A,NC_000007.14:44567092:T:C
Gene:: DDX56 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00017/2 (ALFA)
C=0.0006/10 (TOMMO)
C=0.00617/18 (KOREAN)
C=0.00764/14 (Korea1K)
HGVS:: NC_000007.14:g.44567093T>A, NC_000007.14:g.44567093T>C, NC_000007.13:g.44606692T>A, NC_000007.13:g.44606692T>C

Select item 148672034618.

rs1486720346 [Homo sapiens]

Variant type:: DELINS
Alleles:: GCC>- [Show Flanks]
Chromosome:: 7:44575885 (GRCh38)
7:44615484 (GRCh37)
Canonical SPDI:: NC_000007.14:44575882:CCGCC:CC
Gene:: DDX56 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.44575885_44575887del, NC_000007.13:g.44615484_44615486del

Select item 148645763019.

rs1486457630 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 7:44568924 (GRCh38)
7:44608523 (GRCh37)
Canonical SPDI:: NC_000007.14:44568923:A:C
Gene:: DDX56 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000007.14:g.44568924A>C, NC_000007.13:g.44608523A>C, NM_019082.4:c.1362T>G, NM_019082.3:c.1362T>G, NM_001257189.2:c.1242T>G, NM_001257189.1:c.1242T>G

Select item 148622725720.

rs1486227257 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 7:44569329 (GRCh38)
7:44608928 (GRCh37)
Canonical SPDI:: NC_000007.14:44569328:G:A,NC_000007.14:44569328:G:C,NC_000007.14:44569328:G:T
Gene:: DDX56 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.44569329G>A, NC_000007.14:g.44569329G>C, NC_000007.14:g.44569329G>T, NC_000007.13:g.44608928G>A, NC_000007.13:g.44608928G>C, NC_000007.13:g.44608928G>T

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