SNP Links for Nucleotide (Select 574957303) - SNP

Links from Nucleotide

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Select item 14855048291.

rs1485504829 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 17:45268395 (GRCh38)
17:43345762 (GRCh37)
Canonical SPDI:: NC_000017.11:45268394:TT:
Gene:: MAP3K14 (Varview), MAP3K14-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.45268395_45268396del, NC_000017.10:g.43345762_43345763del, NG_033823.1:g.53653_53654del, NR_024435.2:n.1136_1137del, NR_024435.1:n.1025_1026del, NR_024434.2:n.682_683del, NR_024434.1:n.671_672del, NR_110324.1:n.867_868del, NR_110325.1:n.862_863del, NR_110326.1:n.766_767del

Select item 14855038092.

rs1485503809 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:45268444 (GRCh38)
17:43345811 (GRCh37)
Canonical SPDI:: NC_000017.11:45268443:G:T
Gene:: MAP3K14 (Varview), MAP3K14-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000054/1 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000035/1 (TOMMO)
T=0.000223/1 (Estonian)
T=0.000342/1 (KOREAN)
T=0.000546/1 (Korea1K)
HGVS:: NC_000017.11:g.45268444G>T, NC_000017.10:g.43345811G>T, NG_033823.1:g.53605C>A, NR_024435.2:n.1185G>T, NR_024435.1:n.1074G>T, NR_024434.2:n.731G>T, NR_024434.1:n.720G>T, NR_110324.1:n.916G>T, NR_110325.1:n.911G>T, NR_110326.1:n.815G>T

Select item 14843424473.

rs1484342447 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:45262336 (GRCh38)
17:43339703 (GRCh37)
Canonical SPDI:: NC_000017.11:45262335:G:C
Gene:: SPATA32 (Varview), MAP3K14-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant,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_000017.11:g.45262336G>C, NC_000017.10:g.43339703G>C, NG_033823.1:g.59713C>G, NR_024435.2:n.257G>C, NR_024435.1:n.146G>C, NR_110324.1:n.257G>C

Select item 14824897704.

rs1482489770 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:45267201 (GRCh38)
17:43344568 (GRCh37)
Canonical SPDI:: NC_000017.11:45267200:G:A
Gene:: MAP3K14 (Varview), MAP3K14-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
HGVS:: NC_000017.11:g.45267201G>A, NC_000017.10:g.43344568G>A, NG_033823.1:g.54848C>T, NR_024435.2:n.622G>A, NR_024435.1:n.511G>A, NR_024434.2:n.168G>A, NR_024434.1:n.157G>A, XM_047436998.1:c.2531C>T, XM_047436997.1:c.2531C>T, NR_110324.1:n.353G>A, NR_110325.1:n.348G>A, NR_110326.1:n.252G>A, XP_047292954.1:p.Ala844Val, XP_047292953.1:p.Ala844Val

Select item 14819400115.

rs1481940011 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:45268518 (GRCh38)
17:43345885 (GRCh37)
Canonical SPDI:: NC_000017.11:45268517:G:A
Gene:: MAP3K14 (Varview), MAP3K14-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000342/1 (KOREAN)
HGVS:: NC_000017.11:g.45268518G>A, NC_000017.10:g.43345885G>A, NG_033823.1:g.53531C>T, NR_024435.2:n.1259G>A, NR_024435.1:n.1148G>A, NR_024434.2:n.805G>A, NR_024434.1:n.794G>A, NR_110324.1:n.990G>A, NR_110325.1:n.985G>A, NR_110326.1:n.889G>A

Select item 14804917896.

rs1480491789 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 17:45268014 (GRCh38)
17:43345381 (GRCh37)
Canonical SPDI:: NC_000017.11:45268013:A:C,NC_000017.11:45268013:A:G
Gene:: MAP3K14 (Varview), MAP3K14-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.45268014A>C, NC_000017.11:g.45268014A>G, NC_000017.10:g.43345381A>C, NC_000017.10:g.43345381A>G, NG_033823.1:g.54035T>G, NG_033823.1:g.54035T>C, NR_024435.2:n.755A>C, NR_024435.2:n.755A>G, NR_024435.1:n.644A>C, NR_024435.1:n.644A>G, NR_024434.2:n.301A>C, NR_024434.2:n.301A>G, NR_024434.1:n.290A>C, NR_024434.1:n.290A>G, NR_110324.1:n.486A>C, NR_110324.1:n.486A>G, NR_110325.1:n.481A>C, NR_110325.1:n.481A>G, NR_110326.1:n.385A>C, NR_110326.1:n.385A>G

Select item 14793145197.

rs1479314519 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:45267117 (GRCh38)
17:43344484 (GRCh37)
Canonical SPDI:: NC_000017.11:45267116:A:G
Gene:: MAP3K14 (Varview), MAP3K14-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000017.11:g.45267117A>G, NC_000017.10:g.43344484A>G, NG_033823.1:g.54932T>C, NM_003954.5:c.2408T>C, NM_003954.4:c.2408T>C, NM_003954.3:c.2408T>C, XM_011525441.3:c.2408T>C, XM_011525441.2:c.2408T>C, XM_011525441.1:c.2408T>C, NR_024435.2:n.538A>G, NR_024435.1:n.427A>G, NR_024434.2:n.84A>G, NR_024434.1:n.73A>G, XM_047436998.1:c.2615T>C, XM_047436997.1:c.2615T>C, NR_110324.1:n.269A>G, NR_110325.1:n.264A>G, NR_110326.1:n.168A>G, NP_003945.2:p.Leu803Pro, XP_011523743.1:p.Leu803Pro, XP_047292954.1:p.Leu872Pro, XP_047292953.1:p.Leu872Pro

Select item 14760583058.

rs1476058305 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:45268476 (GRCh38)
17:43345843 (GRCh37)
Canonical SPDI:: NC_000017.11:45268475:C:T
Gene:: MAP3K14 (Varview), MAP3K14-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000312/2 (1000Genomes)
HGVS:: NC_000017.11:g.45268476C>T, NC_000017.10:g.43345843C>T, NG_033823.1:g.53573G>A, NR_024435.2:n.1217C>T, NR_024435.1:n.1106C>T, NR_024434.2:n.763C>T, NR_024434.1:n.752C>T, NR_110324.1:n.948C>T, NR_110325.1:n.943C>T, NR_110326.1:n.847C>T

Select item 14749766959.

rs1474976695 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:45268490 (GRCh38)
17:43345857 (GRCh37)
Canonical SPDI:: NC_000017.11:45268489:C:T
Gene:: MAP3K14 (Varview), MAP3K14-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00006/16 (TOPMED)
T=0.000064/9 (GnomAD)
HGVS:: NC_000017.11:g.45268490C>T, NC_000017.10:g.43345857C>T, NG_033823.1:g.53559G>A, NR_024435.2:n.1231C>T, NR_024435.1:n.1120C>T, NR_024434.2:n.777C>T, NR_024434.1:n.766C>T, NR_110324.1:n.962C>T, NR_110325.1:n.957C>T, NR_110326.1:n.861C>T

Select item 147282389210.

rs1472823892 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:45267222 (GRCh38)
17:43344589 (GRCh37)
Canonical SPDI:: NC_000017.11:45267221:C:T
Gene:: MAP3K14 (Varview), MAP3K14-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000012/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.45267222C>T, NC_000017.10:g.43344589C>T, NG_033823.1:g.54827G>A, NR_024435.2:n.643C>T, NR_024435.1:n.532C>T, NR_024434.2:n.189C>T, NR_024434.1:n.178C>T, XM_047436998.1:c.2510G>A, XM_047436997.1:c.2510G>A, NR_110324.1:n.374C>T, NR_110325.1:n.369C>T, NR_110326.1:n.273C>T, XP_047292954.1:p.Ser837Asn, XP_047292953.1:p.Ser837Asn

Select item 147209864811.

rs1472098648 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:45267125 (GRCh38)
17:43344492 (GRCh37)
Canonical SPDI:: NC_000017.11:45267124:G:A,NC_000017.11:45267124:G:C
Gene:: MAP3K14 (Varview), MAP3K14-AS1 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000009/2 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.45267125G>A, NC_000017.11:g.45267125G>C, NC_000017.10:g.43344492G>A, NC_000017.10:g.43344492G>C, NG_033823.1:g.54924C>T, NG_033823.1:g.54924C>G, NM_003954.5:c.2400C>T, NM_003954.5:c.2400C>G, NM_003954.4:c.2400C>T, NM_003954.4:c.2400C>G, NM_003954.3:c.2400C>T, NM_003954.3:c.2400C>G, XM_011525441.3:c.2400C>T, XM_011525441.3:c.2400C>G, XM_011525441.2:c.2400C>T, XM_011525441.2:c.2400C>G, XM_011525441.1:c.2400C>T, XM_011525441.1:c.2400C>G, NR_024435.2:n.546G>A, NR_024435.2:n.546G>C, NR_024435.1:n.435G>A, NR_024435.1:n.435G>C, NR_024434.2:n.92G>A, NR_024434.2:n.92G>C, NR_024434.1:n.81G>A, NR_024434.1:n.81G>C, XM_047436998.1:c.2607C>T, XM_047436998.1:c.2607C>G, XM_047436997.1:c.2607C>T, XM_047436997.1:c.2607C>G, NR_110324.1:n.277G>A, NR_110324.1:n.277G>C, NR_110325.1:n.272G>A, NR_110325.1:n.272G>C, NR_110326.1:n.176G>A, NR_110326.1:n.176G>C, NP_003945.2:p.Ile800Met, XP_011523743.1:p.Ile800Met, XP_047292954.1:p.Ile869Met, XP_047292953.1:p.Ile869Met

Select item 147027261012.

rs1470272610 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:45268260 (GRCh38)
17:43345627 (GRCh37)
Canonical SPDI:: NC_000017.11:45268259:G:A
Gene:: MAP3K14 (Varview), MAP3K14-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000023/6 (TOPMED)
A=0.000106/2 (TOMMO)
HGVS:: NC_000017.11:g.45268260G>A, NC_000017.10:g.43345627G>A, NG_033823.1:g.53789C>T, NR_024435.2:n.1001G>A, NR_024435.1:n.890G>A, NR_024434.2:n.547G>A, NR_024434.1:n.536G>A, NR_110324.1:n.732G>A, NR_110325.1:n.727G>A, NR_110326.1:n.631G>A

Select item 146885860613.

rs1468858606 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:45268610 (GRCh38)
17:43345977 (GRCh37)
Canonical SPDI:: NC_000017.11:45268609:G:A
Gene:: MAP3K14 (Varview), MAP3K14-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.45268610G>A, NC_000017.10:g.43345977G>A, NG_033823.1:g.53439C>T, NR_024435.2:n.1351G>A, NR_024435.1:n.1240G>A, NR_024434.2:n.897G>A, NR_024434.1:n.886G>A, NR_110324.1:n.1082G>A, NR_110325.1:n.1077G>A, NR_110326.1:n.981G>A

Select item 146579051614.

rs1465790516 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:45267206 (GRCh38)
17:43344573 (GRCh37)
Canonical SPDI:: NC_000017.11:45267205:G:A
Gene:: MAP3K14 (Varview), MAP3K14-AS1 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.45267206G>A, NC_000017.10:g.43344573G>A, NG_033823.1:g.54843C>T, NR_024435.2:n.627G>A, NR_024435.1:n.516G>A, NR_024434.2:n.173G>A, NR_024434.1:n.162G>A, XM_047436998.1:c.2526C>T, XM_047436997.1:c.2526C>T, NR_110324.1:n.358G>A, NR_110325.1:n.353G>A, NR_110326.1:n.257G>A

Select item 146539480615.

rs1465394806 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:45268147 (GRCh38)
17:43345514 (GRCh37)
Canonical SPDI:: NC_000017.11:45268146:T:C
Gene:: MAP3K14 (Varview), MAP3K14-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000034/9 (TOPMED)
C=0.0001/14 (GnomAD)
HGVS:: NC_000017.11:g.45268147T>C, NC_000017.10:g.43345514T>C, NG_033823.1:g.53902A>G, NR_024435.2:n.888T>C, NR_024435.1:n.777T>C, NR_024434.2:n.434T>C, NR_024434.1:n.423T>C, NR_110324.1:n.619T>C, NR_110325.1:n.614T>C, NR_110326.1:n.518T>C

Select item 146322639816.

rs1463226398 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:45262227 (GRCh38)
17:43339594 (GRCh37)
Canonical SPDI:: NC_000017.11:45262226:C:G
Gene:: SPATA32 (Varview), MAP3K14-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_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_000017.11:g.45262227C>G, NC_000017.10:g.43339594C>G, NG_033823.1:g.59822G>C, NR_024435.2:n.148C>G, NR_024435.1:n.37C>G, NR_110324.1:n.148C>G

Select item 145626630617.

rs1456266306 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:45268085 (GRCh38)
17:43345452 (GRCh37)
Canonical SPDI:: NC_000017.11:45268084:G:A,NC_000017.11:45268084:G:T
Gene:: MAP3K14 (Varview), MAP3K14-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.45268085G>A, NC_000017.11:g.45268085G>T, NC_000017.10:g.43345452G>A, NC_000017.10:g.43345452G>T, NG_033823.1:g.53964C>T, NG_033823.1:g.53964C>A, NR_024435.2:n.826G>A, NR_024435.2:n.826G>T, NR_024435.1:n.715G>A, NR_024435.1:n.715G>T, NR_024434.2:n.372G>A, NR_024434.2:n.372G>T, NR_024434.1:n.361G>A, NR_024434.1:n.361G>T, NR_110324.1:n.557G>A, NR_110324.1:n.557G>T, NR_110325.1:n.552G>A, NR_110325.1:n.552G>T, NR_110326.1:n.456G>A, NR_110326.1:n.456G>T

Select item 145591877018.

rs1455918770 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:45268378 (GRCh38)
17:43345745 (GRCh37)
Canonical SPDI:: NC_000017.11:45268377:T:C
Gene:: MAP3K14 (Varview), MAP3K14-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
C=0.000021/3 (GnomAD)
C=0.000035/1 (TOMMO)
HGVS:: NC_000017.11:g.45268378T>C, NC_000017.10:g.43345745T>C, NG_033823.1:g.53671A>G, NR_024435.2:n.1119T>C, NR_024435.1:n.1008T>C, NR_024434.2:n.665T>C, NR_024434.1:n.654T>C, NR_110324.1:n.850T>C, NR_110325.1:n.845T>C, NR_110326.1:n.749T>C

Select item 145376214519.

rs1453762145 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:45268609 (GRCh38)
17:43345976 (GRCh37)
Canonical SPDI:: NC_000017.11:45268608:C:T
Gene:: MAP3K14 (Varview), MAP3K14-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000023/6 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000017.11:g.45268609C>T, NC_000017.10:g.43345976C>T, NG_033823.1:g.53440G>A, NR_024435.2:n.1350C>T, NR_024435.1:n.1239C>T, NR_024434.2:n.896C>T, NR_024434.1:n.885C>T, NR_110324.1:n.1081C>T, NR_110325.1:n.1076C>T, NR_110326.1:n.980C>T

Select item 144307336120.

rs1443073361 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:45268196 (GRCh38)
17:43345563 (GRCh37)
Canonical SPDI:: NC_000017.11:45268195:A:G
Gene:: MAP3K14 (Varview), MAP3K14-AS1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.45268196A>G, NC_000017.10:g.43345563A>G, NG_033823.1:g.53853T>C, NR_024435.2:n.937A>G, NR_024435.1:n.826A>G, NR_024434.2:n.483A>G, NR_024434.1:n.472A>G, NR_110324.1:n.668A>G, NR_110325.1:n.663A>G, NR_110326.1:n.567A>G

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