SNP Links for Gene (Select 8693) - SNP

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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 14911284004.

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 14905455155.

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 14902224916.

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 14899896627.

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 14899381148.

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 14895998469.

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 148956760810.

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 148928382811.

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 148840503212.

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

Select item 148760499513.

rs1487604995 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 12:89524953 (GRCh38)
12:89918730 (GRCh37)
Canonical SPDI:: NC_000012.12:89524952:GGGGG:GGGG
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
MAF:: GGGG=0./0 (ALFA)
HGVS:: NC_000012.12:g.89524957del, NC_000012.11:g.89918734del, NG_041783.1:g.6310del, NG_054725.1:g.6310del, NG_050753.1:g.4854del

Select item 148753407714.

rs1487534077 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:89524053 (GRCh38)
12:89917830 (GRCh37)
Canonical SPDI:: NC_000012.12:89524052:A:G
Gene:: GALNT4 (Varview), POC1B (Varview), POC1B-GALNT4 (Varview), POC1B-AS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_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.89524053A>G, NC_000012.11:g.89917830A>G, NG_041783.1:g.7210T>C, NG_054725.1:g.7210T>C, NM_001199781.2:c.488T>C, NM_001199781.1:c.488T>C, NG_050753.1:g.5754T>C, NM_003774.5:c.497T>C, NM_003774.4:c.497T>C, NP_001186710.1:p.Leu163Pro, NP_003765.2:p.Leu166Pro

Select item 148632843415.

rs1486328434 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 12:89526259 (GRCh38)
12:89920036 (GRCh37)
Canonical SPDI:: NC_000012.12:89526258:C:A,NC_000012.12:89526258:C:G
Gene:: GALNT4 (Varview), POC1B (Varview), POC1B-GALNT4 (Varview), POC1B-AS1 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.89526259C>A, NC_000012.12:g.89526259C>G, NC_000012.11:g.89920036C>A, NC_000012.11:g.89920036C>G, NG_041783.1:g.5004G>T, NG_041783.1:g.5004G>C, NG_054725.1:g.5004G>T, NG_054725.1:g.5004G>C, NM_001199782.1:c.-104G>T, NM_001199782.1:c.-104G>C, NG_050753.1:g.3548G>T, NG_050753.1:g.3548G>C, NM_172240.2:c.-364G>T, NM_172240.2:c.-364G>C, NM_001199781.1:c.-364G>T, NM_001199781.1:c.-364G>C, NR_037659.1:n.4G>T, NR_037659.1:n.4G>C

Select item 148628801516.

rs1486288015 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:89526350 (GRCh38)
12:89920127 (GRCh37)
Canonical SPDI:: NC_000012.12:89526349:T:G
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
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.89526350T>G, NC_000012.11:g.89920127T>G, NG_041783.1:g.4913A>C, NG_054725.1:g.4913A>C, NG_050753.1:g.3457A>C

Select item 148542099917.

rs1485420999 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:89526786 (GRCh38)
12:89920563 (GRCh37)
Canonical SPDI:: NC_000012.12:89526785: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=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.89526786C>T, NC_000012.11:g.89920563C>T, NG_041783.1:g.4477G>A, NG_054725.1:g.4477G>A, NG_050753.1:g.3021G>A

Select item 148502462418.

rs1485024624 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:89523922 (GRCh38)
12:89917699 (GRCh37)
Canonical SPDI:: NC_000012.12:89523921:C:A
Gene:: GALNT4 (Varview), POC1B (Varview), POC1B-GALNT4 (Varview), POC1B-AS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000012.12:g.89523922C>A, NC_000012.11:g.89917699C>A, NG_041783.1:g.7341G>T, NG_054725.1:g.7341G>T, NM_001199781.2:c.619G>T, NM_001199781.1:c.619G>T, NG_050753.1:g.5885G>T, NM_003774.5:c.628G>T, NM_003774.4:c.628G>T, NP_001186710.1:p.Ala207Ser, NP_003765.2:p.Ala210Ser

Select item 148464446919.

rs1484644469 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:89519373 (GRCh38)
12:89913150 (GRCh37)
Canonical SPDI:: NC_000012.12:89519372:T: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:: C=0.000071/1 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000012.12:g.89519373T>C, NC_000012.11:g.89913150T>C, NG_041783.1:g.11890A>G, NG_054725.1:g.11890A>G, NG_050753.1:g.10434A>G

Select item 148454998720.

rs1484549987 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:89522693 (GRCh38)
12:89916470 (GRCh37)
Canonical SPDI:: NC_000012.12:89522692:C:T
Gene:: GALNT4 (Varview), POC1B (Varview), POC1B-GALNT4 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_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.89522693C>T, NC_000012.11:g.89916470C>T, NG_041783.1:g.8570G>A, NG_054725.1:g.8570G>A, NM_001199781.2:c.*120G>A, NM_001199781.1:c.*120G>A, NM_001199782.1:c.*120G>A, NG_050753.1:g.7114G>A, NM_003774.5:c.*120G>A, NM_003774.4:c.*120G>A

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