SNP Links for Nucleotide (Select 197313712) - SNP

Warning: The NCBI web site requires JavaScript to function. more...

Links from Nucleotide

Items: 1 to 20 of 1353

<< First< Prev

Page of 68

Next >Last >>

Select item 14905488601.

rs1490548860 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 10:72064207 (GRCh38)
10:73823965 (GRCh37)
Canonical SPDI:: NC_000010.11:72064206:T:C,NC_000010.11:72064206:T:G
Gene:: SPOCK2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.72064207T>C, NC_000010.11:g.72064207T>G, NC_000010.10:g.73823965T>C, NC_000010.10:g.73823965T>G, NM_014767.2:c.962A>G, NM_014767.2:c.962A>C, NM_001244950.2:c.962A>G, NM_001244950.2:c.962A>C, NM_001244950.1:c.962A>G, NM_001244950.1:c.962A>C, NP_055582.1:p.Gln321Arg, NP_055582.1:p.Gln321Pro, NP_001231879.1:p.Gln321Arg, NP_001231879.1:p.Gln321Pro

Select item 14904782432.

rs1490478243 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:72088454 (GRCh38)
10:73848212 (GRCh37)
Canonical SPDI:: NC_000010.11:72088453:G:A
Gene:: SPOCK2 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.72088454G>A, NC_000010.10:g.73848212G>A, NM_014767.2:c.-126C>T, NM_001244950.2:c.-126C>T, NM_001244950.1:c.-126C>T, NM_001134434.1:c.-126C>T

Select item 14899500333.

rs1489950033 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGG>- [Show Flanks]
Chromosome:: 10:72062464 (GRCh38)
10:73822222 (GRCh37)
Canonical SPDI:: NC_000010.11:72062460:AGGAGG:AGG
Gene:: SPOCK2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGGAGG=0./0 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000019/5 (TOPMED)
HGVS:: NC_000010.11:g.72062461AGG[1], NC_000010.10:g.73822219AGG[1], NM_014767.2:c.*294CCT[1], NM_001244950.2:c.*294CCT[1], NM_001244950.1:c.*294CCT[1]

Select item 14896114064.

rs1489611406 [Homo sapiens]

Variant type:: DELINS
Alleles:: TACA>- [Show Flanks]
Chromosome:: 10:72062554 (GRCh38)
10:73822312 (GRCh37)
Canonical SPDI:: NC_000010.11:72062550:ACATACA:ACA
Gene:: SPOCK2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: ACA=0.000071/1 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.72062554_72062557del, NC_000010.10:g.73822312_73822315del, NM_014767.2:c.*206_*209del, NM_001244950.2:c.*206_*209del, NM_001244950.1:c.*206_*209del

Select item 14872548915.

rs1487254891 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:72059931 (GRCh38)
10:73819689 (GRCh37)
Canonical SPDI:: NC_000010.11:72059930:G:A
Gene:: SPOCK2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.72059931G>A, NC_000010.10:g.73819689G>A, NM_014767.2:c.*2829C>T, NM_001244950.2:c.*2829C>T, NM_001244950.1:c.*2829C>T

Select item 14869983606.

rs1486998360 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:72062623 (GRCh38)
10:73822381 (GRCh37)
Canonical SPDI:: NC_000010.11:72062622:T:C
Gene:: SPOCK2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.72062623T>C, NC_000010.10:g.73822381T>C, NM_014767.2:c.*137A>G, NM_001244950.2:c.*137A>G, NM_001244950.1:c.*137A>G

Select item 14863395317.

rs1486339531 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CA [Show Flanks]
Chromosome:: 10:72061689 (GRCh38)
10:73821448 (GRCh37)
Canonical SPDI:: NC_000010.11:72061689:CA:CACA
Gene:: SPOCK2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACA=0./0 (ALFA)
CA=0.000004/1 (TOPMED)
CA=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.72061690_72061691dup, NC_000010.10:g.73821448_73821449dup, NM_014767.2:c.*1069_*1070dup, NM_001244950.2:c.*1069_*1070dup, NM_001244950.1:c.*1069_*1070dup

Select item 14857794918.

rs1485779491 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:72060037 (GRCh38)
10:73819795 (GRCh37)
Canonical SPDI:: NC_000010.11:72060036:C:T
Gene:: SPOCK2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.72060037C>T, NC_000010.10:g.73819795C>T, NM_014767.2:c.*2723G>A, NM_001244950.2:c.*2723G>A, NM_001244950.1:c.*2723G>A

Select item 14856687709.

rs1485668770 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:72061124 (GRCh38)
10:73820882 (GRCh37)
Canonical SPDI:: NC_000010.11:72061123:C:T
Gene:: SPOCK2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_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_000010.11:g.72061124C>T, NC_000010.10:g.73820882C>T, NM_014767.2:c.*1636G>A, NM_001244950.2:c.*1636G>A, NM_001244950.1:c.*1636G>A

Select item 148481476910.

rs1484814769 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 10:72060176 (GRCh38)
10:73819934 (GRCh37)
Canonical SPDI:: NC_000010.11:72060175:T:G
Gene:: SPOCK2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0./0 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000010.11:g.72060176T>G, NC_000010.10:g.73819934T>G, NM_014767.2:c.*2584A>C, NM_001244950.2:c.*2584A>C, NM_001244950.1:c.*2584A>C

Select item 148470201411.

rs1484702014 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 10:72061260 (GRCh38)
10:73821018 (GRCh37)
Canonical SPDI:: NC_000010.11:72061259:G:C
Gene:: SPOCK2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.72061260G>C, NC_000010.10:g.73821018G>C, NM_014767.2:c.*1500C>G, NM_001244950.2:c.*1500C>G, NM_001244950.1:c.*1500C>G

Select item 148308567512.

rs1483085675 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:72060754 (GRCh38)
10:73820512 (GRCh37)
Canonical SPDI:: NC_000010.11:72060753:A:G
Gene:: SPOCK2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000010.11:g.72060754A>G, NC_000010.10:g.73820512A>G, NM_014767.2:c.*2006T>C, NM_001244950.2:c.*2006T>C, NM_001244950.1:c.*2006T>C

Select item 148300497813.

rs1483004978 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCT>- [Show Flanks]
Chromosome:: 10:72062843 (GRCh38)
10:73822601 (GRCh37)
Canonical SPDI:: NC_000010.11:72062840:CTTCT:CT
Gene:: SPOCK2 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CT=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.72062843_72062845del, NC_000010.10:g.73822601_73822603del, NM_014767.2:c.1192_1194del, NM_001244950.2:c.1192_1194del, NM_001244950.1:c.1192_1194del, NP_055582.1:p.Lys398del, NP_001231879.1:p.Lys398del

Select item 148223961214.

rs1482239612 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:72062448 (GRCh38)
10:73822206 (GRCh37)
Canonical SPDI:: NC_000010.11:72062447:G:A
Gene:: SPOCK2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: A=0.0005/1 (Korea1K)
HGVS:: NC_000010.11:g.72062448G>A, NC_000010.10:g.73822206G>A, NM_014767.2:c.*312C>T, NM_001244950.2:c.*312C>T, NM_001244950.1:c.*312C>T

Select item 148146948115.

rs1481469481 has merged into rs1157201392 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGCCAGGGTAGAAACCAAGGGG>-,AGCCAGGGTAGAAACCAAGGGGAGCCAGGGTAGAAACCAAGGGG [Show Flanks]
Chromosome:: 10:72062319 (GRCh38)
10:73822077 (GRCh37)
Canonical SPDI:: NC_000010.11:72062295:GAGCCAGGGTAGAAACCAAGGGGAGCCAGGGTAGAAACCAAGGGG:GAGCCAGGGTAGAAACCAAGGGG,NC_000010.11:72062295:GAGCCAGGGTAGAAACCAAGGGGAGCCAGGGTAGAAACCAAGGGG:GAGCCAGGGTAGAAACCAAGGGGAGCCAGGGTAGAAACCAAGGGGAGCCAGGGTAGAAACCAAGGGG
Gene:: SPOCK2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAGCCAGGGTAGAAACCAAGGGG=0.00005/1 (ALFA)
-=0.00007/1 (TOMMO)
-=0.00062/4 (1000Genomes)
HGVS:: NC_000010.11:g.72062297AGCCAGGGTAGAAACCAAGGGG[1], NC_000010.11:g.72062297AGCCAGGGTAGAAACCAAGGGG[3], NC_000010.10:g.73822055AGCCAGGGTAGAAACCAAGGGG[1], NC_000010.10:g.73822055AGCCAGGGTAGAAACCAAGGGG[3], NM_014767.2:c.*421CCCTTGGTTTCTACCCTGGCTC[1], NM_014767.2:c.*421CCCTTGGTTTCTACCCTGGCTC[3], NM_001244950.2:c.*421CCCTTGGTTTCTACCCTGGCTC[1], NM_001244950.2:c.*421CCCTTGGTTTCTACCCTGGCTC[3], NM_001244950.1:c.*421CCCTTGGTTTCTACCCTGGCTC[1], NM_001244950.1:c.*421CCCTTGGTTTCTACCCTGGCTC[3]

Select item 148071367716.

rs1480713677 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 10:72061845 (GRCh38)
10:73821603 (GRCh37)
Canonical SPDI:: NC_000010.11:72061844:A:C
Gene:: SPOCK2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.72061845A>C, NC_000010.10:g.73821603A>C, NM_014767.2:c.*915T>G, NM_001244950.2:c.*915T>G, NM_001244950.1:c.*915T>G

Select item 147976622417.

rs1479766224 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 10:72062272 (GRCh38)
10:73822030 (GRCh37)
Canonical SPDI:: NC_000010.11:72062271:G:A,NC_000010.11:72062271:G:C
Gene:: SPOCK2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000010.11:g.72062272G>A, NC_000010.11:g.72062272G>C, NC_000010.10:g.73822030G>A, NC_000010.10:g.73822030G>C, NM_014767.2:c.*488C>T, NM_014767.2:c.*488C>G, NM_001244950.2:c.*488C>T, NM_001244950.2:c.*488C>G, NM_001244950.1:c.*488C>T, NM_001244950.1:c.*488C>G

Select item 147932820718.

rs1479328207 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:72060611 (GRCh38)
10:73820369 (GRCh37)
Canonical SPDI:: NC_000010.11:72060610:G:A
Gene:: SPOCK2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00005/7 (GnomAD)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000010.11:g.72060611G>A, NC_000010.10:g.73820369G>A, NM_014767.2:c.*2149C>T, NM_001244950.2:c.*2149C>T, NM_001244950.1:c.*2149C>T

Select item 147921575719.

rs1479215757 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:72062582 (GRCh38)
10:73822340 (GRCh37)
Canonical SPDI:: NC_000010.11:72062581:C:T
Gene:: SPOCK2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000023/6 (TOPMED)
T=0.000036/5 (GnomAD)
HGVS:: NC_000010.11:g.72062582C>T, NC_000010.10:g.73822340C>T, NM_014767.2:c.*178G>A, NM_001244950.2:c.*178G>A, NM_001244950.1:c.*178G>A

Select item 147914358020.

rs1479143580 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:72060303 (GRCh38)
10:73820061 (GRCh37)
Canonical SPDI:: NC_000010.11:72060302:C:T
Gene:: SPOCK2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000142/2 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000010.11:g.72060303C>T, NC_000010.10:g.73820061C>T, NM_014767.2:c.*2457G>A, NM_001244950.2:c.*2457G>A, NM_001244950.1:c.*2457G>A

<< First< Prev

Page of 68

Next >Last >>

Supplemental Content

Filters: Manage Filters

Find related data

Recent activity

Clear Turn Off Turn On

SNP Links for Nucleotide (Select 197313712) (1353)
SNP

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to: