SNP Links for Gene (Select 8444) - SNP

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Select item 14913974541.

rs1491397454 has merged into rs11301093 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:206640561 (GRCh38)
1:206813906 (GRCh37)
Canonical SPDI:: NC_000001.11:206640547:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:206640547:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:206640547:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:206640547:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:206640547:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:206640547:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:206640547:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:206640547:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:206640547:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: DYRK3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTT=0./0 (ALFA)
T=0.2876/172 (NorthernSweden)
-=0.3323/1664 (1000Genomes)
HGVS:: NC_000001.11:g.206640561_206640568del, NC_000001.11:g.206640564_206640568del, NC_000001.11:g.206640565_206640568del, NC_000001.11:g.206640566_206640568del, NC_000001.11:g.206640567_206640568del, NC_000001.11:g.206640568del, NC_000001.11:g.206640568dup, NC_000001.11:g.206640567_206640568dup, NC_000001.11:g.206640561_206640568dup, NC_000001.10:g.206813906_206813913del, NC_000001.10:g.206813909_206813913del, NC_000001.10:g.206813910_206813913del, NC_000001.10:g.206813911_206813913del, NC_000001.10:g.206813912_206813913del, NC_000001.10:g.206813913del, NC_000001.10:g.206813913dup, NC_000001.10:g.206813912_206813913dup, NC_000001.10:g.206813906_206813913dup, NW_003871057.1:g.631415_631422del, NW_003871057.1:g.631418_631422del, NW_003871057.1:g.631419_631422del, NW_003871057.1:g.631420_631422del, NW_003871057.1:g.631421_631422del, NW_003871057.1:g.631422del, NW_003871057.1:g.631422dup, NW_003871057.1:g.631421_631422dup, NW_003871057.1:g.631415_631422dup

Select item 14912989942.

rs1491298994 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 1:206640547 (GRCh38)
1:206813892 (GRCh37)
Canonical SPDI:: NC_000001.11:206640546:AT:
Gene:: DYRK3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00025/3 (ALFA)
-=0.00011/10 (GnomAD)
-=0.00055/1 (Korea1K)
HGVS:: NC_000001.11:g.206640547_206640548del, NC_000001.10:g.206813892_206813893del, NW_003871057.1:g.631401_631402del

Select item 14910643723.

rs1491064372 has merged into rs11400833 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:206639479 (GRCh38)
1:206812824 (GRCh37)
Canonical SPDI:: NC_000001.11:206639465:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:206639465:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:206639465:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:206639465:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:206639465:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:206639465:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:206639465:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:206639465:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:206639465:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:206639465:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:206639465:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:206639465:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:206639465:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:206639465:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:206639465:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:206639465:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: DYRK3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000001.11:g.206639479_206639485del, NC_000001.11:g.206639480_206639485del, NC_000001.11:g.206639481_206639485del, NC_000001.11:g.206639482_206639485del, NC_000001.11:g.206639483_206639485del, NC_000001.11:g.206639484_206639485del, NC_000001.11:g.206639485del, NC_000001.11:g.206639485dup, NC_000001.11:g.206639484_206639485dup, NC_000001.11:g.206639483_206639485dup, NC_000001.11:g.206639482_206639485dup, NC_000001.11:g.206639481_206639485dup, NC_000001.11:g.206639480_206639485dup, NC_000001.11:g.206639479_206639485dup, NC_000001.11:g.206639485_206639486insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.206639466_206639485T[56]CTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000001.10:g.206812824_206812830del, NC_000001.10:g.206812825_206812830del, NC_000001.10:g.206812826_206812830del, NC_000001.10:g.206812827_206812830del, NC_000001.10:g.206812828_206812830del, NC_000001.10:g.206812829_206812830del, NC_000001.10:g.206812830del, NC_000001.10:g.206812830dup, NC_000001.10:g.206812829_206812830dup, NC_000001.10:g.206812828_206812830dup, NC_000001.10:g.206812827_206812830dup, NC_000001.10:g.206812826_206812830dup, NC_000001.10:g.206812825_206812830dup, NC_000001.10:g.206812824_206812830dup, NC_000001.10:g.206812830_206812831insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.206812811_206812830T[56]CTTTTTTTTTTTTTTTTTTTTTTTT[1], NW_003871057.1:g.630333_630339del, NW_003871057.1:g.630334_630339del, NW_003871057.1:g.630335_630339del, NW_003871057.1:g.630336_630339del, NW_003871057.1:g.630337_630339del, NW_003871057.1:g.630338_630339del, NW_003871057.1:g.630339del, NW_003871057.1:g.630339dup, NW_003871057.1:g.630338_630339dup, NW_003871057.1:g.630337_630339dup, NW_003871057.1:g.630336_630339dup, NW_003871057.1:g.630335_630339dup, NW_003871057.1:g.630334_630339dup, NW_003871057.1:g.630333_630339dup, NW_003871057.1:g.630339_630340insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_003871057.1:g.630320_630339T[56]CTTTTTTTTTTTTTTTTTTTTTTTT[1]

Select item 14909620254.

rs1490962025 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:206653023 (GRCh38)
1:206826368 (GRCh37)
Canonical SPDI:: NC_000001.11:206653022:C:T
Gene:: DYRK3 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000108/2 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000034/9 (TOPMED)
HGVS:: NC_000001.11:g.206653023C>T, NC_000001.10:g.206826368C>T, NW_003871057.1:g.643877C>T, XM_005273315.5:c.*4058C>T, NM_003582.4:c.*4058C>T, NM_003582.3:c.*4058C>T, NM_001004023.3:c.*4058C>T, NM_001004023.2:c.*4058C>T, XM_011510061.3:c.*4058C>T, XM_011510061.2:c.*4058C>T, XM_047432115.1:c.*4058C>T, XM_047432114.1:c.*4058C>T, XM_047432118.1:c.*4058C>T

Select item 14909046215.

rs1490904621 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:206651918 (GRCh38)
1:206825263 (GRCh37)
Canonical SPDI:: NC_000001.11:206651917:T:C
Gene:: DYRK3 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.206651918T>C, NC_000001.10:g.206825263T>C, NW_003871057.1:g.642772T>C, XM_005273315.5:c.*2953T>C, NM_003582.4:c.*2953T>C, NM_003582.3:c.*2953T>C, NM_001004023.3:c.*2953T>C, NM_001004023.2:c.*2953T>C, XM_011510061.3:c.*2953T>C, XM_011510061.2:c.*2953T>C, XM_047432115.1:c.*2953T>C, XM_047432114.1:c.*2953T>C, XM_047432118.1:c.*2953T>C

Select item 14908622696.

rs1490862269 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:206635752 (GRCh38)
1:206809097 (GRCh37)
Canonical SPDI:: NC_000001.11:206635751:G:A
Gene:: DYRK3 (Varview), DYRK3-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,2KB_upstream_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.206635752G>A, NC_000001.10:g.206809097G>A, NW_003871057.1:g.626606G>A, XM_005273315.5:c.-379G>A, NM_003582.4:c.49G>A, NM_003582.3:c.49G>A, NM_003582.2:c.49G>A, NM_001004023.3:c.-106G>A, NM_001004023.2:c.-106G>A, NM_001004023.1:c.-106G>A, XM_047432114.1:c.-189G>A, NP_003573.2:p.Gly17Arg

Select item 14908131937.

rs1490813193 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:206643568 (GRCh38)
1:206816913 (GRCh37)
Canonical SPDI:: NC_000001.11:206643567:A:G
Gene:: DYRK3 (Varview)
Functional Consequence:: intron_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_000001.11:g.206643568A>G, NC_000001.10:g.206816913A>G, NW_003871057.1:g.634422A>G

Select item 14904869518.

rs1490486951 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:206653355 (GRCh38)
1:206826700 (GRCh37)
Canonical SPDI:: NC_000001.11:206653354:C:T
Gene:: DYRK3 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.00003/8 (TOPMED)
HGVS:: NC_000001.11:g.206653355C>T, NC_000001.10:g.206826700C>T, NW_003871057.1:g.644209C>T, XM_005273315.5:c.*4390C>T, NM_003582.4:c.*4390C>T, NM_003582.3:c.*4390C>T, NM_001004023.3:c.*4390C>T, NM_001004023.2:c.*4390C>T, XM_011510061.3:c.*4390C>T, XM_011510061.2:c.*4390C>T, XM_047432115.1:c.*4390C>T, XM_047432114.1:c.*4390C>T, XM_047432118.1:c.*4390C>T

Select item 14904718719.

rs1490471871 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:206653492 (GRCh38)
1:206826837 (GRCh37)
Canonical SPDI:: NC_000001.11:206653491:G:A
Gene:: DYRK3 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.206653492G>A, NC_000001.10:g.206826837G>A, NW_003871057.1:g.644346G>A, XM_005273315.5:c.*4527G>A, NM_003582.4:c.*4527G>A, NM_003582.3:c.*4527G>A, NM_001004023.3:c.*4527G>A, NM_001004023.2:c.*4527G>A, XM_011510061.3:c.*4527G>A, XM_011510061.2:c.*4527G>A, XM_047432115.1:c.*4527G>A, XM_047432114.1:c.*4527G>A, XM_047432118.1:c.*4527G>A

Select item 149041563310.

rs1490415633 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:206652395 (GRCh38)
1:206825740 (GRCh37)
Canonical SPDI:: NC_000001.11:206652394:G:A,NC_000001.11:206652394:G:T
Gene:: DYRK3 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.206652395G>A, NC_000001.11:g.206652395G>T, NC_000001.10:g.206825740G>A, NC_000001.10:g.206825740G>T, NW_003871057.1:g.643249G>A, NW_003871057.1:g.643249G>T, XM_005273315.5:c.*3430G>A, XM_005273315.5:c.*3430G>T, NM_003582.4:c.*3430G>A, NM_003582.4:c.*3430G>T, NM_003582.3:c.*3430G>A, NM_003582.3:c.*3430G>T, NM_001004023.3:c.*3430G>A, NM_001004023.3:c.*3430G>T, NM_001004023.2:c.*3430G>A, NM_001004023.2:c.*3430G>T, XM_011510061.3:c.*3430G>A, XM_011510061.3:c.*3430G>T, XM_011510061.2:c.*3430G>A, XM_011510061.2:c.*3430G>T, XM_047432115.1:c.*3430G>A, XM_047432115.1:c.*3430G>T, XM_047432114.1:c.*3430G>A, XM_047432114.1:c.*3430G>T, XM_047432118.1:c.*3430G>A, XM_047432118.1:c.*3430G>T

Select item 149039776111.

rs1490397761 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:206637118 (GRCh38)
1:206810463 (GRCh37)
Canonical SPDI:: NC_000001.11:206637117:C:G,NC_000001.11:206637117:C:T
Gene:: DYRK3 (Varview), DYRK3-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.206637118C>G, NC_000001.11:g.206637118C>T, NC_000001.10:g.206810463C>G, NC_000001.10:g.206810463C>T, NW_003871057.1:g.627972C>G, NW_003871057.1:g.627972C>T

Select item 149018673812.

rs1490186738 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:206643585 (GRCh38)
1:206816930 (GRCh37)
Canonical SPDI:: NC_000001.11:206643584:C:G
Gene:: DYRK3 (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_000001.11:g.206643585C>G, NC_000001.10:g.206816930C>G, NW_003871057.1:g.634439C>G

Select item 149013724913.

rs1490137249 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:206652504 (GRCh38)
1:206825849 (GRCh37)
Canonical SPDI:: NC_000001.11:206652503:A:G
Gene:: DYRK3 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.206652504A>G, NC_000001.10:g.206825849A>G, NW_003871057.1:g.643358A>G, XM_005273315.5:c.*3539A>G, NM_003582.4:c.*3539A>G, NM_003582.3:c.*3539A>G, NM_001004023.3:c.*3539A>G, NM_001004023.2:c.*3539A>G, XM_011510061.3:c.*3539A>G, XM_011510061.2:c.*3539A>G, XM_047432115.1:c.*3539A>G, XM_047432114.1:c.*3539A>G, XM_047432118.1:c.*3539A>G

Select item 148999414714.

rs1489994147 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:206642926 (GRCh38)
1:206816271 (GRCh37)
Canonical SPDI:: NC_000001.11:206642925:A:G
Gene:: DYRK3 (Varview)
Functional Consequence:: intron_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_000001.11:g.206642926A>G, NC_000001.10:g.206816271A>G, NW_003871057.1:g.633780A>G

Select item 148977096815.

rs1489770968 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:206654027 (GRCh38)
1:206827372 (GRCh37)
Canonical SPDI:: NC_000001.11:206654026:G:A
Gene:: DYRK3 (Varview)
Functional Consequence:: 3_prime_UTR_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_000001.11:g.206654027G>A, NC_000001.10:g.206827372G>A, NW_003871057.1:g.644881G>A, XM_005273315.5:c.*5062G>A, NM_003582.4:c.*5062G>A, NM_003582.3:c.*5062G>A, NM_001004023.3:c.*5062G>A, NM_001004023.2:c.*5062G>A, XM_011510061.3:c.*5062G>A, XM_011510061.2:c.*5062G>A, XM_047432115.1:c.*5062G>A, XM_047432114.1:c.*5062G>A, XM_047432118.1:c.*5062G>A

Select item 148972303516.

rs1489723035 has merged into rs530299102 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT [Show Flanks]
Chromosome:: 1:206638587 (GRCh38)
1:206811932 (GRCh37)
Canonical SPDI:: NC_000001.11:206638575:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:206638575:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:206638575:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:206638575:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:206638575:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT
Gene:: DYRK3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
T=0.02833/17 (NorthernSweden)
T=0.075/3 (GENOME_DK)
HGVS:: NC_000001.11:g.206638587_206638589del, NC_000001.11:g.206638588_206638589del, NC_000001.11:g.206638589del, NC_000001.11:g.206638589dup, NC_000001.11:g.206638588_206638589dup, NC_000001.10:g.206811932_206811934del, NC_000001.10:g.206811933_206811934del, NC_000001.10:g.206811934del, NC_000001.10:g.206811934dup, NC_000001.10:g.206811933_206811934dup, NW_003871057.1:g.629441_629443del, NW_003871057.1:g.629442_629443del, NW_003871057.1:g.629443del, NW_003871057.1:g.629443dup, NW_003871057.1:g.629442_629443dup

Select item 148956410217.

rs1489564102 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:206650811 (GRCh38)
1:206824156 (GRCh37)
Canonical SPDI:: NC_000001.11:206650810:T:C
Gene:: DYRK3 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.206650811T>C, NC_000001.10:g.206824156T>C, NW_003871057.1:g.641665T>C, XM_005273315.5:c.*1846T>C, NM_003582.4:c.*1846T>C, NM_003582.3:c.*1846T>C, NM_001004023.3:c.*1846T>C, NM_001004023.2:c.*1846T>C, XM_011510061.3:c.*1846T>C, XM_011510061.2:c.*1846T>C, XM_047432115.1:c.*1846T>C, XM_047432114.1:c.*1846T>C, XM_047432118.1:c.*1846T>C

Select item 148931629318.

rs1489316293 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:206642414 (GRCh38)
1:206815759 (GRCh37)
Canonical SPDI:: NC_000001.11:206642413:C:A
Gene:: DYRK3 (Varview)
Functional Consequence:: intron_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_000001.11:g.206642414C>A, NC_000001.10:g.206815759C>A, NW_003871057.1:g.633268C>A

Select item 148925040619.

rs1489250406 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:206655614 (GRCh38)
1:206828959 (GRCh37)
Canonical SPDI:: NC_000001.11:206655613:C:G,NC_000001.11:206655613:C:T
Gene:: DYRK3 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000312/2 (1000Genomes)
HGVS:: NC_000001.11:g.206655614C>G, NC_000001.11:g.206655614C>T, NC_000001.10:g.206828959C>G, NC_000001.10:g.206828959C>T, NW_003871057.1:g.646468C>G, NW_003871057.1:g.646468C>T

Select item 148921921220.

rs1489219212 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:206654426 (GRCh38)
1:206827771 (GRCh37)
Canonical SPDI:: NC_000001.11:206654425:T:C
Gene:: DYRK3 (Varview)
Functional Consequence:: 3_prime_UTR_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_000001.11:g.206654426T>C, NC_000001.10:g.206827771T>C, NW_003871057.1:g.645280T>C, XM_005273315.5:c.*5461T>C, NM_003582.4:c.*5461T>C, NM_003582.3:c.*5461T>C, NM_001004023.3:c.*5461T>C, NM_001004023.2:c.*5461T>C, XM_011510061.3:c.*5461T>C, XM_011510061.2:c.*5461T>C, XM_047432115.1:c.*5461T>C, XM_047432114.1:c.*5461T>C, XM_047432118.1:c.*5461T>C

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