SNP Links for Nucleotide (Select 340745281) - SNP

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Links from Nucleotide

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Select item 14915257191.

rs1491525719 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT [Show Flanks]
Chromosome:: 11:123056755 (GRCh38)
11:122927463 (GRCh37)
Canonical SPDI:: NC_000011.10:123056754:TTTTTT:TTTTT,NC_000011.10:123056754:TTTTTT:TTTTTTT
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTT=0./0 (ALFA)
-=0.000021/3 (GnomAD)
HGVS:: NC_000011.10:g.123056760del, NC_000011.10:g.123056760dup, NC_000011.9:g.122927468del, NC_000011.9:g.122927468dup, NG_029473.1:g.10382del, NG_029473.1:g.10382dup

Select item 14914291402.

rs1491429140 has merged into rs779861584 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>-,CACA [Show Flanks]
Chromosome:: 11:123058247 (GRCh38)
11:122928955 (GRCh37)
Canonical SPDI:: NC_000011.10:123058243:ACACA:ACA,NC_000011.10:123058243:ACACA:ACACACA
Gene:: HSPA8 (Varview), SNORD14E (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACA=0./0 (ALFA)
AC=0.000022/3 (GnomAD)
HGVS:: NC_000011.10:g.123058245CA[1], NC_000011.10:g.123058245CA[3], NC_000011.9:g.122928953CA[1], NC_000011.9:g.122928953CA[3], NG_029473.1:g.8890GT[1], NG_029473.1:g.8890GT[3], NR_001455.1:n.5GT[1], NR_001455.1:n.5GT[3]

Select item 14911026273.

rs1491102627 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 11:123056754 (GRCh38)
11:122927462 (GRCh37)
Canonical SPDI:: NC_000011.10:123056753:AT:
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000015/4 (TOPMED)
HGVS:: NC_000011.10:g.123056754_123056755del, NC_000011.9:g.122927462_122927463del, NG_029473.1:g.10382_10383del

Select item 14907469174.

rs1490746917 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:123061052 (GRCh38)
11:122931760 (GRCh37)
Canonical SPDI:: NC_000011.10:123061051:C:T
Gene:: HSPA8 (Varview), SNORD14C (Varview), LOC124902775 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000011.10:g.123061052C>T, NC_000011.9:g.122931760C>T, NG_029473.1:g.6085G>A

Select item 14907214995.

rs1490721499 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:123061677 (GRCh38)
11:122932385 (GRCh37)
Canonical SPDI:: NC_000011.10:123061676:C:A
Gene:: HSPA8 (Varview), LOC124902775 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_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_000011.10:g.123061677C>A, NC_000011.9:g.122932385C>A, NG_029473.1:g.5460G>T

Select item 14905484636.

rs1490548463 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:123062431 (GRCh38)
11:122933139 (GRCh37)
Canonical SPDI:: NC_000011.10:123062430:G:T
Gene:: HSPA8 (Varview), LOC124902775 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000057/8 (GnomAD)
T=0.000117/31 (TOPMED)
HGVS:: NC_000011.10:g.123062431G>T, NC_000011.9:g.122933139G>T, NG_029473.1:g.4706C>A, XM_011542798.2:c.-90C>A

Select item 14904962397.

rs1490496239 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:123059633 (GRCh38)
11:122930341 (GRCh37)
Canonical SPDI:: NC_000011.10:123059632:G:A
Gene:: HSPA8 (Varview), SNORD14C (Varview), SNORD14D (Varview), SNORD14E (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.123059633G>A, NC_000011.9:g.122930341G>A, NG_029473.1:g.7504C>T, NM_006597.6:c.960C>T, NM_006597.5:c.960C>T, NM_153201.4:c.960C>T, NM_153201.3:c.960C>T, XM_011542798.2:c.960C>T, XM_011542798.1:c.960C>T

Select item 14903579988.

rs1490357998 [Homo sapiens]

Variant type:: DELINS
Alleles:: TG>- [Show Flanks]
Chromosome:: 11:123058770 (GRCh38)
11:122929478 (GRCh37)
Canonical SPDI:: NC_000011.10:123058767:TGTG:TG
Gene:: HSPA8 (Varview), SNORD14D (Varview), SNORD14E (Varview)
Functional Consequence:: coding_sequence_variant,500B_downstream_variant,frameshift_variant,2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.123058768TG[1], NC_000011.9:g.122929476TG[1], NG_029473.1:g.8366CA[1], NM_006597.6:c.1385_1386del, NM_006597.5:c.1385_1386del, NM_153201.4:c.1385_1386del, NM_153201.3:c.1385_1386del, XM_011542798.2:c.1385_1386del, XM_011542798.1:c.1385_1386del, NP_006588.1:p.Thr462fs, NP_694881.1:p.Thr462fs, XP_011541100.1:p.Thr462fs

Select item 14903374339.

rs1490337433 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:123060051 (GRCh38)
11:122930759 (GRCh37)
Canonical SPDI:: NC_000011.10:123060050:T:C
Gene:: HSPA8 (Varview), SNORD14C (Varview), SNORD14D (Varview), SNORD14E (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.123060051T>C, NC_000011.9:g.122930759T>C, NG_029473.1:g.7086A>G

Select item 149025588510.

rs1490255885 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:123060858 (GRCh38)
11:122931566 (GRCh37)
Canonical SPDI:: NC_000011.10:123060857:G:A
Gene:: HSPA8 (Varview), SNORD14C (Varview), SNORD14D (Varview), LOC124902775 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_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_000011.10:g.123060858G>A, NC_000011.9:g.122931566G>A, NG_029473.1:g.6279C>T

Select item 149009454311.

rs1490094543 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:123061948 (GRCh38)
11:122932656 (GRCh37)
Canonical SPDI:: NC_000011.10:123061947:C:T
Gene:: HSPA8 (Varview), LOC124902775 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.123061948C>T, NC_000011.9:g.122932656C>T, NG_029473.1:g.5189G>A

Select item 148980760512.

rs1489807605 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:123065518 (GRCh38)
11:122936226 (GRCh37)
Canonical SPDI:: NC_000011.10:123065517:C:G
Gene:: LOC124902775 (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_000011.10:g.123065518C>G, NC_000011.9:g.122936226C>G, NG_029473.1:g.1619G>C

Select item 148963646313.

rs1489636463 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:123064787 (GRCh38)
11:122935495 (GRCh37)
Canonical SPDI:: NC_000011.10:123064786:A:G
Gene:: LOC124902775 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000011.10:g.123064787A>G, NC_000011.9:g.122935495A>G, NG_029473.1:g.2350T>C

Select item 148955342014.

rs1489553420 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 11:123055886 (GRCh38)
11:122926594 (GRCh37)
Canonical SPDI:: NC_000011.10:123055885:AA:
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.123055886_123055887del, NC_000011.9:g.122926594_122926595del, NG_029473.1:g.11250_11251del

Select item 148941145515.

rs1489411455 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 11:123062337 (GRCh38)
11:122933045 (GRCh37)
Canonical SPDI:: NC_000011.10:123062336:A:C,NC_000011.10:123062336:A:G
Gene:: HSPA8 (Varview), LOC124902775 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0./0 (GnomAD)
G=0.000035/1 (TOMMO)
HGVS:: NC_000011.10:g.123062337A>C, NC_000011.10:g.123062337A>G, NC_000011.9:g.122933045A>C, NC_000011.9:g.122933045A>G, NG_029473.1:g.4800T>G, NG_029473.1:g.4800T>C

Select item 148906615116.

rs1489066151 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:123065447 (GRCh38)
11:122936155 (GRCh37)
Canonical SPDI:: NC_000011.10:123065446:G:T
Gene:: LOC124902775 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.123065447G>T, NC_000011.9:g.122936155G>T, NG_029473.1:g.1690C>A

Select item 148842673517.

rs1488426735 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 11:123058887 (GRCh38)
11:122929595 (GRCh37)
Canonical SPDI:: NC_000011.10:123058886:G:A,NC_000011.10:123058886:G:C
Gene:: HSPA8 (Varview), SNORD14C (Varview), SNORD14D (Varview), SNORD14E (Varview)
Functional Consequence:: 500B_downstream_variant,intron_variant,2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.123058887G>A, NC_000011.10:g.123058887G>C, NC_000011.9:g.122929595G>A, NC_000011.9:g.122929595G>C, NG_029473.1:g.8250C>T, NG_029473.1:g.8250C>G

Select item 148824359018.

rs1488243590 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:123061483 (GRCh38)
11:122932191 (GRCh37)
Canonical SPDI:: NC_000011.10:123061482:T:C
Gene:: HSPA8 (Varview), LOC124902775 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
C=0.000177/3 (TOMMO)
HGVS:: NC_000011.10:g.123061483T>C, NC_000011.9:g.122932191T>C, NG_029473.1:g.5654A>G

Select item 148799158619.

rs1487991586 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:123066878 (GRCh38)
11:122937586 (GRCh37)
Canonical SPDI:: NC_000011.10:123066877:C:A
Gene:: LOC124902775 (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_000011.10:g.123066878C>A, NC_000011.9:g.122937586C>A, NG_029473.1:g.259G>T

Select item 148786901420.

rs1487869014 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 11:123064800 (GRCh38)
11:122935508 (GRCh37)
Canonical SPDI:: NC_000011.10:123064799:G:A,NC_000011.10:123064799:G:C
Gene:: LOC124902775 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000011.10:g.123064800G>A, NC_000011.10:g.123064800G>C, NC_000011.9:g.122935508G>A, NC_000011.9:g.122935508G>C, NG_029473.1:g.2337C>T, NG_029473.1:g.2337C>G

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