SNP Links for Nucleotide (Select 1012519613) - SNP

Links from Nucleotide

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Select item 14908435171.

rs1490843517 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:92006334 (GRCh38)
14:92472678 (GRCh37)
Canonical SPDI:: NC_000014.9:92006333:C:T
Gene:: TRIP11 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_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_000014.9:g.92006334C>T, NC_000014.8:g.92472678C>T, NG_016970.1:g.38726G>A, NM_004239.4:c.1642G>A, NM_004239.3:c.1642G>A, NM_001321851.1:c.1639G>A, XR_943560.3:n.2016G>A, XR_943560.2:n.2091G>A, XR_943560.1:n.2097G>A, XR_001750598.3:n.2016G>A, XR_001750598.2:n.2091G>A, XR_001750598.1:n.2097G>A, XM_047431935.1:c.316G>A, NP_004230.2:p.Asp548Asn, NP_001308780.1:p.Asp547Asn, XP_047287891.1:p.Asp106Asn

Select item 14903630612.

rs1490363061 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:91966463 (GRCh38)
14:92432807 (GRCh37)
Canonical SPDI:: NC_000014.9:91966462:G:A
Gene:: TRIP11 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000014.9:g.91966463G>A, NC_000014.8:g.92432807G>A, NG_016970.1:g.78597C>T, NM_004239.4:c.*3210C>T, NM_001321851.1:c.*3210C>T, XM_047431935.1:c.*3210C>T

Select item 14896405953.

rs1489640595 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:92004422 (GRCh38)
14:92470766 (GRCh37)
Canonical SPDI:: NC_000014.9:92004421:G:A
Gene:: TRIP11 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_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_000014.9:g.92004422G>A, NC_000014.8:g.92470766G>A, NG_016970.1:g.40638C>T, NM_004239.4:c.3554C>T, NM_004239.3:c.3554C>T, NM_001321851.1:c.3551C>T, XR_943560.3:n.3928C>T, XR_943560.2:n.4003C>T, XR_943560.1:n.4009C>T, XR_001750598.3:n.3928C>T, XR_001750598.2:n.4003C>T, XR_001750598.1:n.4009C>T, XM_047431935.1:c.2228C>T, NP_004230.2:p.Ala1185Val, NP_001308780.1:p.Ala1184Val, XP_047287891.1:p.Ala743Val

Select item 14889980494.

rs1488998049 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:92004407 (GRCh38)
14:92470751 (GRCh37)
Canonical SPDI:: NC_000014.9:92004406:G:A
Gene:: TRIP11 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.92004407G>A, NC_000014.8:g.92470751G>A, NG_016970.1:g.40653C>T, NM_004239.4:c.3569C>T, NM_004239.3:c.3569C>T, NM_001321851.1:c.3566C>T, XR_943560.3:n.3943C>T, XR_943560.2:n.4018C>T, XR_943560.1:n.4024C>T, XR_001750598.3:n.3943C>T, XR_001750598.2:n.4018C>T, XR_001750598.1:n.4024C>T, XM_047431935.1:c.2243C>T, NP_004230.2:p.Ser1190Phe, NP_001308780.1:p.Ser1189Phe, XP_047287891.1:p.Ser748Phe

Select item 14889749715.

rs1488974971 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:92003752 (GRCh38)
14:92470096 (GRCh37)
Canonical SPDI:: NC_000014.9:92003751:T:C
Gene:: TRIP11 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.92003752T>C, NC_000014.8:g.92470096T>C, NG_016970.1:g.41308A>G, NM_004239.4:c.4224A>G, NM_004239.3:c.4224A>G, NM_001321851.1:c.4221A>G, XR_943560.3:n.4598A>G, XR_943560.2:n.4673A>G, XR_943560.1:n.4679A>G, XR_001750598.3:n.4598A>G, XR_001750598.2:n.4673A>G, XR_001750598.1:n.4679A>G, XM_047431935.1:c.2898A>G

Select item 14888819266.

rs1488881926 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:91969572 (GRCh38)
14:92435916 (GRCh37)
Canonical SPDI:: NC_000014.9:91969571:A:G
Gene:: TRIP11 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.91969572A>G, NC_000014.8:g.92435916A>G, NG_016970.1:g.75488T>C, NM_004239.4:c.*101T>C, NM_004239.3:c.*101T>C, NM_001321851.1:c.*101T>C, XM_047431935.1:c.*101T>C

Select item 14886707097.

rs1488670709 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 14:92039825 (GRCh38)
14:92506169 (GRCh37)
Canonical SPDI:: NC_000014.9:92039824:G:A,NC_000014.9:92039824:G:C
Gene:: TRIP11 (Varview), LOC124903363 (Varview)
Functional Consequence:: 2KB_upstream_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.92039825G>A, NC_000014.9:g.92039825G>C, NC_000014.8:g.92506169G>A, NC_000014.8:g.92506169G>C, NG_008198.2:g.71797C>T, NG_008198.2:g.71797C>G, NG_016970.1:g.5235C>T, NG_016970.1:g.5235C>G, NM_004239.4:c.-140C>T, NM_004239.4:c.-140C>G, NM_004239.3:c.-140C>T, NM_004239.3:c.-140C>G, NM_001321851.1:c.-140C>T, NM_001321851.1:c.-140C>G, XR_943560.3:n.235C>T, XR_943560.3:n.235C>G, XR_943560.2:n.310C>T, XR_943560.2:n.310C>G, XR_943560.1:n.316C>T, XR_943560.1:n.316C>G, XR_001750598.3:n.235C>T, XR_001750598.3:n.235C>G, XR_001750598.2:n.310C>T, XR_001750598.2:n.310C>G, XR_001750598.1:n.316C>T, XR_001750598.1:n.316C>G

Select item 14882930358.

rs1488293035 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 14:92007745 (GRCh38)
14:92474089 (GRCh37)
Canonical SPDI:: NC_000014.9:92007744:AA:
Gene:: TRIP11 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000019/5 (TOPMED)
HGVS:: NC_000014.9:g.92007745_92007746del, NC_000014.8:g.92474089_92474090del, NG_016970.1:g.37314_37315del, NM_004239.4:c.1421_1422del, NM_004239.3:c.1421_1422del, NM_001321851.1:c.1418_1419del, XR_943560.3:n.1795_1796del, XR_943560.2:n.1870_1871del, XR_943560.1:n.1876_1877del, XR_001750598.3:n.1795_1796del, XR_001750598.2:n.1870_1871del, XR_001750598.1:n.1876_1877del, XM_047431935.1:c.95_96del, NP_004230.2:p.Leu474fs, NP_001308780.1:p.Leu473fs, XP_047287891.1:p.Leu32fs

Select item 14881853429.

rs1488185342 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:92015724 (GRCh38)
14:92482068 (GRCh37)
Canonical SPDI:: NC_000014.9:92015723:A:G
Gene:: TRIP11 (Varview)
Functional Consequence:: synonymous_variant,genic_upstream_transcript_variant,upstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000014.9:g.92015724A>G, NC_000014.8:g.92482068A>G, NG_016970.1:g.29336T>C, NM_004239.4:c.795T>C, NM_004239.3:c.795T>C, NM_001321851.1:c.792T>C, XR_943560.3:n.1169T>C, XR_943560.2:n.1244T>C, XR_943560.1:n.1250T>C, XR_001750598.3:n.1169T>C, XR_001750598.2:n.1244T>C, XR_001750598.1:n.1250T>C

Select item 148799182110.

rs1487991821 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:91967015 (GRCh38)
14:92433359 (GRCh37)
Canonical SPDI:: NC_000014.9:91967014:T:C
Gene:: TRIP11 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000036/5 (GnomAD)
C=0.000156/1 (1000Genomes)
HGVS:: NC_000014.9:g.91967015T>C, NC_000014.8:g.92433359T>C, NG_016970.1:g.78045A>G, NM_004239.4:c.*2658A>G, NM_001321851.1:c.*2658A>G, XM_047431935.1:c.*2658A>G

Select item 148759512611.

rs1487595126 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:91968218 (GRCh38)
14:92434562 (GRCh37)
Canonical SPDI:: NC_000014.9:91968217:T:C
Gene:: TRIP11 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000014.9:g.91968218T>C, NC_000014.8:g.92434562T>C, NG_016970.1:g.76842A>G, NM_004239.4:c.*1455A>G, NM_004239.3:c.*1455A>G, NM_001321851.1:c.*1455A>G, XM_047431935.1:c.*1455A>G

Select item 148757233212.

rs1487572332 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 14:92004002 (GRCh38)
14:92470346 (GRCh37)
Canonical SPDI:: NC_000014.9:92004001:T:A
Gene:: TRIP11 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.92004002T>A, NC_000014.8:g.92470346T>A, NG_016970.1:g.41058A>T, NM_004239.4:c.3974A>T, NM_004239.3:c.3974A>T, NM_001321851.1:c.3971A>T, XR_943560.3:n.4348A>T, XR_943560.2:n.4423A>T, XR_943560.1:n.4429A>T, XR_001750598.3:n.4348A>T, XR_001750598.2:n.4423A>T, XR_001750598.1:n.4429A>T, XM_047431935.1:c.2648A>T, NP_004230.2:p.Gln1325Leu, NP_001308780.1:p.Gln1324Leu, XP_047287891.1:p.Gln883Leu

Select item 148692985813.

rs1486929858 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 14:91976145 (GRCh38)
14:92442489 (GRCh37)
Canonical SPDI:: NC_000014.9:91976144:T:G
Gene:: TRIP11 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.91976145T>G, NC_000014.8:g.92442489T>G, NG_016970.1:g.68915A>C, NM_004239.4:c.5305A>C, NM_004239.3:c.5305A>C, NM_001321851.1:c.5302A>C, XM_047431935.1:c.3979A>C, NP_004230.2:p.Met1769Leu, NP_001308780.1:p.Met1768Leu, XP_047287891.1:p.Met1327Leu

Select item 148675234314.

rs1486752343 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:92003488 (GRCh38)
14:92469832 (GRCh37)
Canonical SPDI:: NC_000014.9:92003487:T:C
Gene:: TRIP11 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000014/2 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000014.9:g.92003488T>C, NC_000014.8:g.92469832T>C, NG_016970.1:g.41572A>G, NM_004239.4:c.4488A>G, NM_004239.3:c.4488A>G, NM_001321851.1:c.4485A>G, XR_943560.3:n.4862A>G, XR_943560.2:n.4937A>G, XR_943560.1:n.4943A>G, XR_001750598.3:n.4862A>G, XR_001750598.2:n.4937A>G, XR_001750598.1:n.4943A>G, XM_047431935.1:c.3162A>G

Select item 148664283915.

rs1486642839 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:91969610 (GRCh38)
14:92435954 (GRCh37)
Canonical SPDI:: NC_000014.9:91969609:G:A
Gene:: TRIP11 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_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_000014.9:g.91969610G>A, NC_000014.8:g.92435954G>A, NG_016970.1:g.75450C>T, NM_004239.4:c.*63C>T, NM_004239.3:c.*63C>T, NM_001321851.1:c.*63C>T, XM_047431935.1:c.*63C>T

Select item 148662904416.

rs1486629044 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:91968973 (GRCh38)
14:92435317 (GRCh37)
Canonical SPDI:: NC_000014.9:91968972:C:T
Gene:: TRIP11 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000014.9:g.91968973C>T, NC_000014.8:g.92435317C>T, NG_016970.1:g.76087G>A, NM_004239.4:c.*700G>A, NM_004239.3:c.*700G>A, NM_001321851.1:c.*700G>A, XM_047431935.1:c.*700G>A

Select item 148562321917.

rs1485623219 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 14:91968041 (GRCh38)
14:92434385 (GRCh37)
Canonical SPDI:: NC_000014.9:91968040:A:C
Gene:: TRIP11 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.91968041A>C, NC_000014.8:g.92434385A>C, NG_016970.1:g.77019T>G, NM_004239.4:c.*1632T>G, NM_004239.3:c.*1632T>G, NM_001321851.1:c.*1632T>G, XM_047431935.1:c.*1632T>G

Select item 148514247418.

rs1485142474 [Homo sapiens]

Variant type:: DELINS
Alleles:: GATAA>- [Show Flanks]
Chromosome:: 14:91966367 (GRCh38)
14:92432711 (GRCh37)
Canonical SPDI:: NC_000014.9:91966364:AAGATAA:AA
Gene:: TRIP11 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.91966367_91966371del, NC_000014.8:g.92432711_92432715del, NG_016970.1:g.78691_78695del, NM_004239.4:c.*3304_*3308del, NM_001321851.1:c.*3304_*3308del, XM_047431935.1:c.*3304_*3308del

Select item 148511044719.

rs1485110447 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 14:92005386 (GRCh38)
14:92471730 (GRCh37)
Canonical SPDI:: NC_000014.9:92005385:G:C
Gene:: TRIP11 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0.000111/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.92005386G>C, NC_000014.8:g.92471730G>C, NG_016970.1:g.39674C>G, NM_004239.4:c.2590C>G, NM_004239.3:c.2590C>G, NM_001321851.1:c.2587C>G, XR_943560.3:n.2964C>G, XR_943560.2:n.3039C>G, XR_943560.1:n.3045C>G, XR_001750598.3:n.2964C>G, XR_001750598.2:n.3039C>G, XR_001750598.1:n.3045C>G, XM_047431935.1:c.1264C>G, NP_004230.2:p.His864Asp, NP_001308780.1:p.His863Asp, XP_047287891.1:p.His422Asp

Select item 148498273620.

rs1484982736 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAGGACCAT>- [Show Flanks]
Chromosome:: 14:91967720 (GRCh38)
14:92434064 (GRCh37)
Canonical SPDI:: NC_000014.9:91967717:ATAAAGGACCAT:AT
Gene:: TRIP11 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AT=0.000569/8 (ALFA)
-=0.000312/2 (1000Genomes)
-=0.000699/185 (TOPMED)
-=0.000913/128 (GnomAD)
HGVS:: NC_000014.9:g.91967720_91967729del, NC_000014.8:g.92434064_92434073del, NG_016970.1:g.77333_77342del, NM_004239.4:c.*1946_*1955del, NM_001321851.1:c.*1946_*1955del, XM_047431935.1:c.*1946_*1955del

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