SNP Links for Gene (Select 1666) - SNP

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Items: 1 to 20 of 12096

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Select item 14911453691.

rs1491145369 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 8:90010263 (GRCh38)
8:91022491 (GRCh37)
Canonical SPDI:: NC_000008.11:90010262:CA:
Gene:: DECR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000008.11:g.90010263_90010264del, NC_000008.10:g.91022491_91022492del, NG_008042.2:g.13787_13788del

Select item 14910835302.

rs1491083530 has merged into rs200601445 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA [Show Flanks]
Chromosome:: 8:90051184 (GRCh38)
8:91063412 (GRCh37)
Canonical SPDI:: NC_000008.11:90051174:AAAAAAAAAAAAA:AAAAAAAAA,NC_000008.11:90051174:AAAAAAAAAAAAA:AAAAAAAAAA,NC_000008.11:90051174:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000008.11:90051174:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000008.11:90051174:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000008.11:90051174:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA
Gene:: DECR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
A=0.1/4 (GENOME_DK)
A=0.1272/637 (1000Genomes)
HGVS:: NC_000008.11:g.90051184_90051187del, NC_000008.11:g.90051185_90051187del, NC_000008.11:g.90051186_90051187del, NC_000008.11:g.90051187del, NC_000008.11:g.90051187dup, NC_000008.11:g.90051186_90051187dup, NC_000008.10:g.91063412_91063415del, NC_000008.10:g.91063413_91063415del, NC_000008.10:g.91063414_91063415del, NC_000008.10:g.91063415del, NC_000008.10:g.91063415dup, NC_000008.10:g.91063414_91063415dup, NG_008042.2:g.54708_54711del, NG_008042.2:g.54709_54711del, NG_008042.2:g.54710_54711del, NG_008042.2:g.54711del, NG_008042.2:g.54711dup, NG_008042.2:g.54710_54711dup

Select item 14908749733.

rs1490874973 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:90006646 (GRCh38)
8:91018874 (GRCh37)
Canonical SPDI:: NC_000008.11:90006645:C:T
Gene:: DECR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.90006646C>T, NC_000008.10:g.91018874C>T, NG_008042.2:g.10170C>T

Select item 14907888694.

rs1490788869 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:90015630 (GRCh38)
8:91027858 (GRCh37)
Canonical SPDI:: NC_000008.11:90015629:A:G
Gene:: DECR1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.90015630A>G, NC_000008.10:g.91027858A>G, NG_008042.2:g.19154A>G, XM_011516880.4:c.6A>G, XM_011516880.3:c.6A>G, XM_011516880.2:c.6A>G, XM_011516880.1:c.6A>G, XM_047421410.1:c.6A>G

Select item 14907536845.

rs1490753684 [Homo sapiens]

Variant type:: DELINS
Alleles:: TAAATATAGCTCACACTTTA>- [Show Flanks]
Chromosome:: 8:90010772 (GRCh38)
8:91023000 (GRCh37)
Canonical SPDI:: NC_000008.11:90010766:CTTTATAAATATAGCTCACACTTTA:CTTTA
Gene:: DECR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTTTA=0.000071/1 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.90010772_90010791del, NC_000008.10:g.91023000_91023019del, NG_008042.2:g.14296_14315del

Select item 14907351156.

rs1490735115 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:90045923 (GRCh38)
8:91058151 (GRCh37)
Canonical SPDI:: NC_000008.11:90045922:G:A
Gene:: DECR1 (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_000008.11:g.90045923G>A, NC_000008.10:g.91058151G>A, NG_008042.2:g.49447G>A

Select item 14907091757.

rs1490709175 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:90047921 (GRCh38)
8:91060149 (GRCh37)
Canonical SPDI:: NC_000008.11:90047920:T:C
Gene:: DECR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000008.11:g.90047921T>C, NC_000008.10:g.91060149T>C, NG_008042.2:g.51445T>C

Select item 14906574858.

rs1490657485 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 8:90029647 (GRCh38)
8:91041875 (GRCh37)
Canonical SPDI:: NC_000008.11:90029646:C:A,NC_000008.11:90029646:C:T
Gene:: DECR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000008.11:g.90029647C>A, NC_000008.11:g.90029647C>T, NC_000008.10:g.91041875C>A, NC_000008.10:g.91041875C>T, NG_008042.2:g.33171C>A, NG_008042.2:g.33171C>T

Select item 14906377329.

rs1490637732 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:90015392 (GRCh38)
8:91027620 (GRCh37)
Canonical SPDI:: NC_000008.11:90015391:A:G
Gene:: DECR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000008.11:g.90015392A>G, NC_000008.10:g.91027620A>G, NG_008042.2:g.18916A>G

Select item 149061041810.

rs1490610418 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 8:90036906 (GRCh38)
8:91049134 (GRCh37)
Canonical SPDI:: NC_000008.11:90036905:G:A,NC_000008.11:90036905:G:T
Gene:: DECR1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.90036906G>A, NC_000008.11:g.90036906G>T, NC_000008.10:g.91049134G>A, NC_000008.10:g.91049134G>T, NG_008042.2:g.40430G>A, NG_008042.2:g.40430G>T, NM_001330575.2:c.604G>A, NM_001330575.2:c.604G>T, NM_001330575.1:c.604G>A, NM_001330575.1:c.604G>T, NM_001359.2:c.631G>A, NM_001359.2:c.631G>T, NM_001359.1:c.631G>A, NM_001359.1:c.631G>T, XM_005250808.6:c.355G>A, XM_005250808.6:c.355G>T, XM_005250808.5:c.355G>A, XM_005250808.5:c.355G>T, XM_005250808.4:c.355G>A, XM_005250808.4:c.355G>T, XM_005250808.3:c.355G>A, XM_005250808.3:c.355G>T, XM_005250808.2:c.355G>A, XM_005250808.2:c.355G>T, XM_005250808.1:c.355G>A, XM_005250808.1:c.355G>T, XM_011516880.4:c.604G>A, XM_011516880.4:c.604G>T, XM_011516880.3:c.604G>A, XM_011516880.3:c.604G>T, XM_011516880.2:c.604G>A, XM_011516880.2:c.604G>T, XM_011516880.1:c.604G>A, XM_011516880.1:c.604G>T, XM_047421410.1:c.604G>A, XM_047421410.1:c.604G>T, XM_047421409.1:c.604G>A, XM_047421409.1:c.604G>T, NP_001317504.1:p.Ala202Thr, NP_001317504.1:p.Ala202Ser, NP_001350.1:p.Ala211Thr, NP_001350.1:p.Ala211Ser, XP_005250865.1:p.Ala119Thr, XP_005250865.1:p.Ala119Ser, XP_011515182.1:p.Ala202Thr, XP_011515182.1:p.Ala202Ser, XP_047277366.1:p.Ala202Thr, XP_047277366.1:p.Ala202Ser, XP_047277365.1:p.Ala202Thr, XP_047277365.1:p.Ala202Ser

Select item 149059377011.

rs1490593770 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:90047009 (GRCh38)
8:91059237 (GRCh37)
Canonical SPDI:: NC_000008.11:90047008:C:T
Gene:: DECR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.90047009C>T, NC_000008.10:g.91059237C>T, NG_008042.2:g.50533C>T

Select item 149056921212.

rs1490569212 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:90030706 (GRCh38)
8:91042934 (GRCh37)
Canonical SPDI:: NC_000008.11:90030705:A:G
Gene:: DECR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
G=0.000036/5 (GnomAD)
HGVS:: NC_000008.11:g.90030706A>G, NC_000008.10:g.91042934A>G, NG_008042.2:g.34230A>G

Select item 149052549713.

rs1490525497 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:90016374 (GRCh38)
8:91028602 (GRCh37)
Canonical SPDI:: NC_000008.11:90016373:T:C
Gene:: DECR1 (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_000008.11:g.90016374T>C, NC_000008.10:g.91028602T>C, NG_008042.2:g.19898T>C

Select item 149033363814.

rs1490333638 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:90028666 (GRCh38)
8:91040894 (GRCh37)
Canonical SPDI:: NC_000008.11:90028665:A:G
Gene:: DECR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.90028666A>G, NC_000008.10:g.91040894A>G, NG_008042.2:g.32190A>G

Select item 149032795215.

rs1490327952 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 8:90014403 (GRCh38)
8:91026631 (GRCh37)
Canonical SPDI:: NC_000008.11:90014399:TATAT:TAT
Gene:: DECR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TAT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.90014401AT[1], NC_000008.10:g.91026629AT[1], NG_008042.2:g.17925AT[1]

Select item 149026027616.

rs1490260276 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:90046091 (GRCh38)
8:91058319 (GRCh37)
Canonical SPDI:: NC_000008.11:90046090:G:A
Gene:: DECR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.90046091G>A, NC_000008.10:g.91058319G>A, NG_008042.2:g.49615G>A

Select item 149020095717.

rs1490200957 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:90025249 (GRCh38)
8:91037477 (GRCh37)
Canonical SPDI:: NC_000008.11:90025248:T:C
Gene:: DECR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.90025249T>C, NC_000008.10:g.91037477T>C, NG_008042.2:g.28773T>C

Select item 149018627918.

rs1490186279 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:90004096 (GRCh38)
8:91016324 (GRCh37)
Canonical SPDI:: NC_000008.11:90004095:C:T
Gene:: DECR1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000008.11:g.90004096C>T, NC_000008.10:g.91016324C>T, NG_008042.2:g.7620C>T, XM_047421410.1:c.-1358C>T

Select item 149015549219.

rs1490155492 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:90038487 (GRCh38)
8:91050715 (GRCh37)
Canonical SPDI:: NC_000008.11:90038486:T:C
Gene:: DECR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.90038487T>C, NC_000008.10:g.91050715T>C, NG_008042.2:g.42011T>C

Select item 149013508920.

rs1490135089 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:90006481 (GRCh38)
8:91018709 (GRCh37)
Canonical SPDI:: NC_000008.11:90006480:C:T
Gene:: DECR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
T=0.000036/5 (GnomAD)
HGVS:: NC_000008.11:g.90006481C>T, NC_000008.10:g.91018709C>T, NG_008042.2:g.10005C>T

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