SNP Links for Nucleotide (Select 981220795) - SNP

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:92383506 (GRCh38)
9:95145788 (GRCh37)
Canonical SPDI:: NC_000009.12:92383505:T:C
Gene:: OGN (Varview), CENPP (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,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_000009.12:g.92383506T>C, NC_000009.11:g.95145788T>C, NW_025791788.1:g.218235T>C, NM_014057.5:c.*2114A>G, NM_014057.4:c.*2114A>G, NM_033014.4:c.*2114A>G, NM_033014.3:c.*2114A>G, NM_024416.4:c.*2114A>G

Select item 14872738406.

rs1487273840 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 9:92385112 (GRCh38)
9:95147394 (GRCh37)
Canonical SPDI:: NC_000009.12:92385111:T:G
Gene:: OGN (Varview), CENPP (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000035/1 (TOMMO)
HGVS:: NC_000009.12:g.92385112T>G, NC_000009.11:g.95147394T>G, NW_025791788.1:g.219841T>G, NM_014057.5:c.*508A>C, NM_014057.4:c.*508A>C, NM_014057.3:c.*508A>C, NM_033014.4:c.*508A>C, NM_033014.3:c.*508A>C, NM_033014.2:c.*508A>C, NM_024416.4:c.*508A>C, NM_024416.3:c.*508A>C, NM_024416.2:c.*508A>C

Select item 14859078487.

rs1485907848 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:92386226 (GRCh38)
9:95148508 (GRCh37)
Canonical SPDI:: NC_000009.12:92386225:T:C
Gene:: OGN (Varview), CENPP (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.92386226T>C, NC_000009.11:g.95148508T>C, NW_025791788.1:g.220955T>C, NM_014057.5:c.701A>G, NM_014057.4:c.701A>G, NM_014057.3:c.701A>G, NM_033014.4:c.701A>G, NM_033014.3:c.701A>G, NM_033014.2:c.701A>G, NM_024416.4:c.875A>G, NM_024416.3:c.755A>G, NM_024416.2:c.701A>G, NM_024416.1:c.701A>G, NP_054776.1:p.Glu234Gly, NP_148935.1:p.Glu234Gly, NP_077727.3:p.Glu292Gly

Select item 14858982418.

rs1485898241 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 9:92404676 (GRCh38)
9:95166958 (GRCh37)
Canonical SPDI:: NC_000009.12:92404675:T:A
Gene:: OGN (Varview), CENPP (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant
HGVS:: NC_000009.12:g.92404676T>A, NC_000009.11:g.95166958T>A, NW_025791788.1:g.239405T>A, NM_014057.4:c.-256A>T, NM_024416.4:c.-1A>T, NM_033014.3:c.-538A>T

Select item 14849349779.

rs1484934977 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:92383467 (GRCh38)
9:95145749 (GRCh37)
Canonical SPDI:: NC_000009.12:92383466:T:C
Gene:: OGN (Varview), CENPP (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,3_prime_UTR_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_000009.12:g.92383467T>C, NC_000009.11:g.95145749T>C, NW_025791788.1:g.218196T>C, NM_014057.5:c.*2153A>G, NM_014057.4:c.*2153A>G, NM_033014.4:c.*2153A>G, NM_033014.3:c.*2153A>G, NM_024416.4:c.*2153A>G

Select item 148309378610.

rs1483093786 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 9:92404693 (GRCh38)
9:95166975 (GRCh37)
Canonical SPDI:: NC_000009.12:92404692:A:C
Gene:: OGN (Varview), CENPP (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant,genic_downstream_transcript_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_000009.12:g.92404693A>C, NC_000009.11:g.95166975A>C, NW_025791788.1:g.239422A>C, NM_014057.4:c.-273T>G, NM_024416.4:c.-18T>G, NM_033014.3:c.-555T>G

Select item 148299211311.

rs1482992113 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 9:92385451 (GRCh38)
9:95147733 (GRCh37)
Canonical SPDI:: NC_000009.12:92385450:C:G
Gene:: OGN (Varview), CENPP (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000009.12:g.92385451C>G, NC_000009.11:g.95147733C>G, NW_025791788.1:g.220180C>G, NM_014057.5:c.*169G>C, NM_014057.4:c.*169G>C, NM_014057.3:c.*169G>C, NM_033014.4:c.*169G>C, NM_033014.3:c.*169G>C, NM_033014.2:c.*169G>C, NM_024416.4:c.*169G>C, NM_024416.3:c.*169G>C, NM_024416.2:c.*169G>C

Select item 148119945712.

rs1481199457 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 9:92385393 (GRCh38)
9:95147675 (GRCh37)
Canonical SPDI:: NC_000009.12:92385392:G:T
Gene:: OGN (Varview), CENPP (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.92385393G>T, NC_000009.11:g.95147675G>T, NW_025791788.1:g.220122G>T, NM_014057.5:c.*227C>A, NM_014057.4:c.*227C>A, NM_014057.3:c.*227C>A, NM_033014.4:c.*227C>A, NM_033014.3:c.*227C>A, NM_033014.2:c.*227C>A, NM_024416.4:c.*227C>A, NM_024416.3:c.*227C>A, NM_024416.2:c.*227C>A

Select item 147848511413.

rs1478485114 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:92384615 (GRCh38)
9:95146897 (GRCh37)
Canonical SPDI:: NC_000009.12:92384614:A:G
Gene:: OGN (Varview), CENPP (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,3_prime_UTR_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_000009.12:g.92384615A>G, NC_000009.11:g.95146897A>G, NW_025791788.1:g.219344A>G, NM_014057.5:c.*1005T>C, NM_014057.4:c.*1005T>C, NM_014057.3:c.*1005T>C, NM_033014.4:c.*1005T>C, NM_033014.3:c.*1005T>C, NM_033014.2:c.*1005T>C, NM_024416.4:c.*1005T>C, NM_024416.3:c.*1005T>C, NM_024416.2:c.*1005T>C

Select item 147821742014.

rs1478217420 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:92384382 (GRCh38)
9:95146664 (GRCh37)
Canonical SPDI:: NC_000009.12:92384381:T:C
Gene:: OGN (Varview), CENPP (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,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_000009.12:g.92384382T>C, NC_000009.11:g.95146664T>C, NW_025791788.1:g.219111T>C, NM_014057.5:c.*1238A>G, NM_014057.4:c.*1238A>G, NM_014057.3:c.*1238A>G, NM_033014.4:c.*1238A>G, NM_033014.3:c.*1238A>G, NM_033014.2:c.*1238A>G, NM_024416.4:c.*1238A>G, NM_024416.3:c.*1238A>G, NM_024416.2:c.*1238A>G

Select item 147720624115.

rs1477206241 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:92383279 (GRCh38)
9:95145561 (GRCh37)
Canonical SPDI:: NC_000009.12:92383278:A:G
Gene:: OGN (Varview), CENPP (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000142/2 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000019/5 (TOPMED)
HGVS:: NC_000009.12:g.92383279A>G, NC_000009.11:g.95145561A>G, NW_025791788.1:g.218008A>G, NM_014057.5:c.*2341T>C, NM_014057.4:c.*2341T>C, NM_033014.4:c.*2341T>C, NM_033014.3:c.*2341T>C, NM_024416.4:c.*2341T>C

Select item 147706736316.

rs1477067363 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:92401146 (GRCh38)
9:95163428 (GRCh37)
Canonical SPDI:: NC_000009.12:92401145:G:A
Gene:: OGN (Varview), CENPP (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,stop_gained,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000009.12:g.92401146G>A, NC_000009.11:g.95163428G>A, NW_025791788.1:g.235875G>A, NM_014057.5:c.214C>T, NM_014057.4:c.214C>T, NM_014057.3:c.214C>T, NM_033014.4:c.214C>T, NM_033014.3:c.214C>T, NM_033014.2:c.214C>T, NM_024416.4:c.388C>T, NM_024416.3:c.268C>T, NM_024416.2:c.214C>T, NM_024416.1:c.214C>T, NP_054776.1:p.Gln72Ter, NP_148935.1:p.Gln72Ter, NP_077727.3:p.Gln130Ter

Select item 147546533017.

rs1475465330 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:92404583 (GRCh38)
9:95166865 (GRCh37)
Canonical SPDI:: NC_000009.12:92404582:A:G
Gene:: OGN (Varview), CENPP (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,intron_variant,synonymous_variant,genic_downstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000014/2 (GnomAD_exomes)
HGVS:: NC_000009.12:g.92404583A>G, NC_000009.11:g.95166865A>G, NW_025791788.1:g.239312A>G, NM_014057.4:c.-163T>C, NM_024416.4:c.93T>C, NM_024416.3:c.-28T>C, NM_033014.3:c.-445T>C, NM_014057.3:c.-163T>C, NM_033014.2:c.-445T>C

Select item 147522161918.

rs1475221619 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 9:92383453 (GRCh38)
9:95145735 (GRCh37)
Canonical SPDI:: NC_000009.12:92383452:A:T
Gene:: OGN (Varview), CENPP (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.92383453A>T, NC_000009.11:g.95145735A>T, NW_025791788.1:g.218182A>T, NM_014057.5:c.*2167T>A, NM_014057.4:c.*2167T>A, NM_033014.4:c.*2167T>A, NM_033014.3:c.*2167T>A, NM_024416.4:c.*2167T>A

Select item 147259294419.

rs1472592944 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:92384349 (GRCh38)
9:95146631 (GRCh37)
Canonical SPDI:: NC_000009.12:92384348:T:C
Gene:: OGN (Varview), CENPP (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.0002/1 (ALFA)
C=0.0002/1 (Estonian)
HGVS:: NC_000009.12:g.92384349T>C, NC_000009.11:g.95146631T>C, NW_025791788.1:g.219078T>C, NM_014057.5:c.*1271A>G, NM_014057.4:c.*1271A>G, NM_014057.3:c.*1271A>G, NM_033014.4:c.*1271A>G, NM_033014.3:c.*1271A>G, NM_033014.2:c.*1271A>G, NM_024416.4:c.*1271A>G, NM_024416.3:c.*1271A>G, NM_024416.2:c.*1271A>G

Select item 147243188320.

rs1472431883 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 9:92404697 (GRCh38)
9:95166979 (GRCh37)
Canonical SPDI:: NC_000009.12:92404696:A:T
Gene:: OGN (Varview), CENPP (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/1 (GnomAD_exomes)
T=0.000015/4 (TOPMED)
HGVS:: NC_000009.12:g.92404697A>T, NC_000009.11:g.95166979A>T, NW_025791788.1:g.239426A>T, NM_014057.4:c.-277T>A, NM_024416.4:c.-22T>A, NM_033014.3:c.-559T>A

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