SNP Links for Nucleotide (Select 1189441385) - SNP

Links from Nucleotide

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Select item 14915472741.

rs1491547274 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTCC [Show Flanks]
Chromosome:: 12:89526086 (GRCh38)
12:89919864 (GRCh37)
Canonical SPDI:: NC_000012.12:89526086:C:CGTCC
Gene:: GALNT4 (Varview), POC1B (Varview), POC1B-GALNT4 (Varview), POC1B-AS1 (Varview)
Functional Consequence:: intron_variant,frameshift_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
HGVS:: NC_000012.12:g.89526087_89526088insGTCC, NC_000012.11:g.89919864_89919865insGTCC, NG_041783.1:g.5176_5177insGACG, NG_054725.1:g.5176_5177insGACG, NM_001199782.1:c.69_70insGACG, NG_050753.1:g.3720_3721insGACG, NM_172240.2:c.-192_-191insGACG, NM_001199781.1:c.-192_-191insGACG, NR_037659.1:n.176_177insGACG, NP_001186711.1:p.Ser24fs

Select item 14914092382.

rs1491409238 [Homo sapiens]

Variant type:: DELINS
Alleles:: AC>- [Show Flanks]
Chromosome:: 12:89526088 (GRCh38)
12:89919865 (GRCh37)
Canonical SPDI:: NC_000012.12:89526085:ACAC:AC
Gene:: GALNT4 (Varview), POC1B (Varview), POC1B-GALNT4 (Varview), POC1B-AS1 (Varview)
Functional Consequence:: intron_variant,frameshift_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
HGVS:: NC_000012.12:g.89526086AC[1], NC_000012.11:g.89919863AC[1], NG_041783.1:g.5174GT[1], NG_054725.1:g.5174GT[1], NM_001199782.1:c.69_70del, NG_050753.1:g.3718GT[1], NM_172240.2:c.-194GT[1], NM_001199781.1:c.-194GT[1], NR_037659.1:n.174GT[1], NP_001186711.1:p.Arg25fs

Select item 14912135933.

rs1491213593 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CCCCACCTCCAACCC [Show Flanks]
Chromosome:: 12:89525854 (GRCh38)
12:89919632 (GRCh37)
Canonical SPDI:: NC_000012.12:89525854:CCCCCCCACCTCCAACCC:CCCCCCCACCTCCAACCCCCCCACCTCCAACCC
Gene:: GALNT4 (Varview), POC1B (Varview), POC1B-GALNT4 (Varview), POC1B-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCACCTCCAACCCCCCCACCTCCAACCC=0./0 (ALFA)
CCCCCCCACCTCCAA=0.00001/1 (GnomAD)
HGVS:: NC_000012.12:g.89525858_89525872dup, NC_000012.11:g.89919635_89919649dup, NG_041783.1:g.5394_5408dup, NG_054725.1:g.5394_5408dup, NG_050753.1:g.3938_3952dup

Select item 14911633334.

rs1491163333 has merged into rs60802036 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT [Show Flanks]
Chromosome:: 12:89529043 (GRCh38)
12:89922820 (GRCh37)
Canonical SPDI:: NC_000012.12:89529031:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000012.12:89529031:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:89529031:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:89529031:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:89529031:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000012.12:89529031:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:89529031:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:89529031:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000012.12:89529031:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000012.12:89529031:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT
Gene:: POC1B-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000012.12:g.89529043_89529049del, NC_000012.12:g.89529044_89529049del, NC_000012.12:g.89529045_89529049del, NC_000012.12:g.89529046_89529049del, NC_000012.12:g.89529047_89529049del, NC_000012.12:g.89529048_89529049del, NC_000012.12:g.89529049del, NC_000012.12:g.89529049dup, NC_000012.12:g.89529048_89529049dup, NC_000012.12:g.89529047_89529049dup, NC_000012.11:g.89922820_89922826del, NC_000012.11:g.89922821_89922826del, NC_000012.11:g.89922822_89922826del, NC_000012.11:g.89922823_89922826del, NC_000012.11:g.89922824_89922826del, NC_000012.11:g.89922825_89922826del, NC_000012.11:g.89922826del, NC_000012.11:g.89922826dup, NC_000012.11:g.89922825_89922826dup, NC_000012.11:g.89922824_89922826dup, NG_041783.1:g.2225_2231del, NG_041783.1:g.2226_2231del, NG_041783.1:g.2227_2231del, NG_041783.1:g.2228_2231del, NG_041783.1:g.2229_2231del, NG_041783.1:g.2230_2231del, NG_041783.1:g.2231del, NG_041783.1:g.2231dup, NG_041783.1:g.2230_2231dup, NG_041783.1:g.2229_2231dup, NG_054725.1:g.2225_2231del, NG_054725.1:g.2226_2231del, NG_054725.1:g.2227_2231del, NG_054725.1:g.2228_2231del, NG_054725.1:g.2229_2231del, NG_054725.1:g.2230_2231del, NG_054725.1:g.2231del, NG_054725.1:g.2231dup, NG_054725.1:g.2230_2231dup, NG_054725.1:g.2229_2231dup, NG_050753.1:g.769_775del, NG_050753.1:g.770_775del, NG_050753.1:g.771_775del, NG_050753.1:g.772_775del, NG_050753.1:g.773_775del, NG_050753.1:g.774_775del, NG_050753.1:g.775del, NG_050753.1:g.775dup, NG_050753.1:g.774_775dup, NG_050753.1:g.773_775dup

Select item 14911284005.

rs1491128400 [Homo sapiens]

Variant type:: DEL
Alleles:: AC>- [Show Flanks]
Chromosome:: 12:89525853 (GRCh38)
12:89919630 (GRCh37)
Canonical SPDI:: NC_000012.12:89525852:AC:
Gene:: GALNT4 (Varview), POC1B (Varview), POC1B-GALNT4 (Varview), POC1B-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00008/1 (ALFA)
-=0.18059/696 (ALSPAC)
-=0.2028/752 (TWINSUK)
HGVS:: NC_000012.12:g.89525853_89525854del, NC_000012.11:g.89919630_89919631del, NG_041783.1:g.5409_5410del, NG_054725.1:g.5409_5410del, NG_050753.1:g.3953_3954del

Select item 14909898686.

rs1490989868 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 12:89528613 (GRCh38)
12:89922390 (GRCh37)
Canonical SPDI:: NC_000012.12:89528612:C:G,NC_000012.12:89528612:C:T
Gene:: POC1B-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.00004/1 (TOMMO)
HGVS:: NC_000012.12:g.89528613C>G, NC_000012.12:g.89528613C>T, NC_000012.11:g.89922390C>G, NC_000012.11:g.89922390C>T, NG_041783.1:g.2650G>C, NG_041783.1:g.2650G>A, NG_054725.1:g.2650G>C, NG_054725.1:g.2650G>A, NG_050753.1:g.1194G>C, NG_050753.1:g.1194G>A

Select item 14909571077.

rs1490957107 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:89527399 (GRCh38)
12:89921176 (GRCh37)
Canonical SPDI:: NC_000012.12:89527398:G:A
Gene:: POC1B (Varview), POC1B-GALNT4 (Varview), POC1B-AS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.89527399G>A, NC_000012.11:g.89921176G>A, NG_041783.1:g.3864C>T, NG_054725.1:g.3864C>T, NG_050753.1:g.2408C>T

Select item 14906024258.

rs1490602425 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:89518247 (GRCh38)
12:89912024 (GRCh37)
Canonical SPDI:: NC_000012.12:89518246:T:C
Gene:: POC1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000224/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000012.12:g.89518247T>C, NC_000012.11:g.89912024T>C, NG_041783.1:g.13016A>G, NG_054725.1:g.13016A>G, NG_050753.1:g.11560A>G

Select item 14905455159.

rs1490545515 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:89523320 (GRCh38)
12:89917097 (GRCh37)
Canonical SPDI:: NC_000012.12:89523319:A:G
Gene:: GALNT4 (Varview), POC1B (Varview), POC1B-GALNT4 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0.000047/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.89523320A>G, NC_000012.11:g.89917097A>G, NG_041783.1:g.7943T>C, NG_054725.1:g.7943T>C, NM_001199781.2:c.1221T>C, NM_001199781.1:c.1221T>C, NM_001199782.1:c.714T>C, NG_050753.1:g.6487T>C, NM_003774.5:c.1230T>C, NM_003774.4:c.1230T>C

Select item 149050156710.

rs1490501567 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:89528140 (GRCh38)
12:89921917 (GRCh37)
Canonical SPDI:: NC_000012.12:89528139:G:A
Gene:: POC1B-GALNT4 (Varview), POC1B-AS1 (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=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.89528140G>A, NC_000012.11:g.89921917G>A, NG_041783.1:g.3123C>T, NG_054725.1:g.3123C>T, NG_050753.1:g.1667C>T

Select item 149046524111.

rs1490465241 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:89526900 (GRCh38)
12:89920677 (GRCh37)
Canonical SPDI:: NC_000012.12:89526899:A:G
Gene:: POC1B (Varview), POC1B-GALNT4 (Varview), POC1B-AS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.89526900A>G, NC_000012.11:g.89920677A>G, NG_041783.1:g.4363T>C, NG_054725.1:g.4363T>C, NG_050753.1:g.2907T>C

Select item 149022249112.

rs1490222491 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:89522233 (GRCh38)
12:89916010 (GRCh37)
Canonical SPDI:: NC_000012.12:89522232:C:T
Gene:: GALNT4 (Varview), POC1B (Varview), POC1B-GALNT4 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.89522233C>T, NC_000012.11:g.89916010C>T, NG_041783.1:g.9030G>A, NG_054725.1:g.9030G>A, NM_001199781.2:c.*580G>A, NM_001199781.1:c.*580G>A, NM_001199782.1:c.*580G>A, NG_050753.1:g.7574G>A, NM_003774.5:c.*580G>A, NM_003774.4:c.*580G>A

Select item 149016263613.

rs1490162636 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 12:89518414 (GRCh38)
12:89912191 (GRCh37)
Canonical SPDI:: NC_000012.12:89518413:A:T
Gene:: POC1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.89518414A>T, NC_000012.11:g.89912191A>T, NG_041783.1:g.12849T>A, NG_054725.1:g.12849T>A, NG_050753.1:g.11393T>A

Select item 148998966214.

rs1489989662 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:89526453 (GRCh38)
12:89920230 (GRCh37)
Canonical SPDI:: NC_000012.12:89526452:C:T
Gene:: GALNT4 (Varview), POC1B (Varview), POC1B-GALNT4 (Varview), POC1B-AS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.89526453C>T, NC_000012.11:g.89920230C>T, NG_041783.1:g.4810G>A, NG_054725.1:g.4810G>A, NG_050753.1:g.3354G>A

Select item 148993811415.

rs1489938114 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:89525785 (GRCh38)
12:89919562 (GRCh37)
Canonical SPDI:: NC_000012.12:89525784:A:G
Gene:: GALNT4 (Varview), POC1B (Varview), POC1B-GALNT4 (Varview), POC1B-AS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.89525785A>G, NC_000012.11:g.89919562A>G, NG_041783.1:g.5478T>C, NG_054725.1:g.5478T>C, NG_050753.1:g.4022T>C, NR_146294.1:n.216A>G

Select item 148959984616.

rs1489599846 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 12:89519043 (GRCh38)
12:89912820 (GRCh37)
Canonical SPDI:: NC_000012.12:89519042:CC:C
Gene:: GALNT4 (Varview), POC1B (Varview), POC1B-GALNT4 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000035/1 (TOMMO)
HGVS:: NC_000012.12:g.89519044del, NC_000012.11:g.89912821del, NG_041783.1:g.12220del, NG_054725.1:g.12220del, NG_050753.1:g.10764del

Select item 148956760817.

rs1489567608 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 12:89525717 (GRCh38)
12:89919494 (GRCh37)
Canonical SPDI:: NC_000012.12:89525716:T:A,NC_000012.12:89525716:T:C
Gene:: GALNT4 (Varview), POC1B (Varview), POC1B-GALNT4 (Varview), POC1B-AS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.89525717T>A, NC_000012.12:g.89525717T>C, NC_000012.11:g.89919494T>A, NC_000012.11:g.89919494T>C, NG_041783.1:g.5546A>T, NG_041783.1:g.5546A>G, NG_054725.1:g.5546A>T, NG_054725.1:g.5546A>G, NG_050753.1:g.4090A>T, NG_050753.1:g.4090A>G, NR_146294.1:n.148T>A, NR_146294.1:n.148T>C

Select item 148928382818.

rs1489283828 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:89521870 (GRCh38)
12:89915647 (GRCh37)
Canonical SPDI:: NC_000012.12:89521869:T:G
Gene:: GALNT4 (Varview), POC1B (Varview), POC1B-GALNT4 (Varview)
Functional Consequence:: intron_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_000012.12:g.89521870T>G, NC_000012.11:g.89915647T>G, NG_041783.1:g.9393A>C, NG_054725.1:g.9393A>C, NM_001199781.2:c.*943A>C, NM_001199781.1:c.*943A>C, NM_001199782.1:c.*943A>C, NG_050753.1:g.7937A>C, NM_003774.5:c.*943A>C, NM_003774.4:c.*943A>C

Select item 148885135519.

rs1488851355 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:89528523 (GRCh38)
12:89922300 (GRCh37)
Canonical SPDI:: NC_000012.12:89528522:A:G
Gene:: POC1B-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000012.12:g.89528523A>G, NC_000012.11:g.89922300A>G, NG_041783.1:g.2740T>C, NG_054725.1:g.2740T>C, NG_050753.1:g.1284T>C

Select item 148840503220.

rs1488405032 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 12:89521730 (GRCh38)
12:89915507 (GRCh37)
Canonical SPDI:: NC_000012.12:89521729:A:C
Gene:: GALNT4 (Varview), POC1B (Varview), POC1B-GALNT4 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.89521730A>C, NC_000012.11:g.89915507A>C, NG_041783.1:g.9533T>G, NG_054725.1:g.9533T>G, NM_001199781.2:c.*1083T>G, NM_001199781.1:c.*1083T>G, NM_001199782.1:c.*1083T>G, NG_050753.1:g.8077T>G, NM_003774.5:c.*1083T>G, NM_003774.4:c.*1083T>G

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