SNP Links for Nucleotide (Select 1049480161) - SNP

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:48748149 (GRCh38)
19:49251406 (GRCh37)
Canonical SPDI:: NC_000019.10:48748148:G:A
Gene:: FUT1 (Varview), IZUMO1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.48748149G>A, NC_000019.9:g.49251406G>A, NG_007510.2:g.12242C>T, NM_000148.4:c.*2035C>T, NM_000148.3:c.*2035C>T, NM_001329877.1:c.*2035C>T, NM_001384359.1:c.*2035C>T

Select item 14896144458.

rs1489614445 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 19:48753425 (GRCh38)
19:49256682 (GRCh37)
Canonical SPDI:: NC_000019.10:48753424:A:T
Gene:: FUT1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_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_000019.10:g.48753425A>T, NC_000019.9:g.49256682A>T, NG_007510.2:g.6966T>A, NM_000148.4:c.-736T>A, NM_000148.3:c.-736T>A, NM_001329877.1:c.-570T>A, NG_033945.1:g.2339A>T

Select item 14891626269.

rs1489162626 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:48749295 (GRCh38)
19:49252552 (GRCh37)
Canonical SPDI:: NC_000019.10:48749294:A:G
Gene:: FUT1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/1 (GnomAD)
G=0.000034/9 (TOPMED)
HGVS:: NC_000019.10:g.48749295A>G, NC_000019.9:g.49252552A>G, NG_007510.2:g.11096T>C, NM_000148.4:c.*889T>C, NM_000148.3:c.*889T>C, NM_001329877.1:c.*889T>C, NM_001384359.1:c.*889T>C

Select item 148712049810.

rs1487120498 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:48750778 (GRCh38)
19:49254035 (GRCh37)
Canonical SPDI:: NC_000019.10:48750777:G:A
Gene:: FUT1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.48750778G>A, NC_000019.9:g.49254035G>A, NG_007510.2:g.9613C>T, NM_000148.4:c.504C>T, NM_000148.3:c.504C>T, NM_001329877.1:c.504C>T, NM_001384359.1:c.504C>T

Select item 148691381711.

rs1486913817 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 19:48750572 (GRCh38)
19:49253829 (GRCh37)
Canonical SPDI:: NC_000019.10:48750571:CCC:CC
Gene:: FUT1 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.48750574del, NC_000019.9:g.49253831del, NG_007510.2:g.9819del, NM_000148.4:c.710del, NM_000148.3:c.710del, NM_001329877.1:c.710del, NM_001384359.1:c.710del, NP_000139.1:p.Gly237fs, NP_001316806.1:p.Gly237fs, NP_001371288.1:p.Gly237fs

Select item 148661081112.

rs1486610811 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:48750698 (GRCh38)
19:49253955 (GRCh37)
Canonical SPDI:: NC_000019.10:48750697:G:A
Gene:: FUT1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
A=0.000019/5 (TOPMED)
HGVS:: NC_000019.10:g.48750698G>A, NC_000019.9:g.49253955G>A, NG_007510.2:g.9693C>T, NM_000148.4:c.584C>T, NM_000148.3:c.584C>T, NM_001329877.1:c.584C>T, NM_001384359.1:c.584C>T, NP_000139.1:p.Ala195Val, NP_001316806.1:p.Ala195Val, NP_001371288.1:p.Ala195Val

Select item 148610646113.

rs1486106461 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:48750959 (GRCh38)
19:49254216 (GRCh37)
Canonical SPDI:: NC_000019.10:48750958:C:A
Gene:: FUT1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000224/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000019.10:g.48750959C>A, NC_000019.9:g.49254216C>A, NG_007510.2:g.9432G>T, NM_000148.4:c.323G>T, NM_000148.3:c.323G>T, NM_001329877.1:c.323G>T, NM_001384359.1:c.323G>T, NP_000139.1:p.Arg108Leu, NP_001316806.1:p.Arg108Leu, NP_001371288.1:p.Arg108Leu

Select item 148578621214.

rs1485786212 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:48751023 (GRCh38)
19:49254280 (GRCh37)
Canonical SPDI:: NC_000019.10:48751022:C:T
Gene:: FUT1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000019.10:g.48751023C>T, NC_000019.9:g.49254280C>T, NG_007510.2:g.9368G>A, NM_000148.4:c.259G>A, NM_000148.3:c.259G>A, NM_001329877.1:c.259G>A, NM_001384359.1:c.259G>A, NP_000139.1:p.Gly87Ser, NP_001316806.1:p.Gly87Ser, NP_001371288.1:p.Gly87Ser

Select item 148510591915.

rs1485105919 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:48750090 (GRCh38)
19:49253347 (GRCh37)
Canonical SPDI:: NC_000019.10:48750089:A:G
Gene:: FUT1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000026/7 (TOPMED)
HGVS:: NC_000019.10:g.48750090A>G, NC_000019.9:g.49253347A>G, NG_007510.2:g.10301T>C, NM_000148.4:c.*94T>C, NM_000148.3:c.*94T>C, NM_001329877.1:c.*94T>C, NM_001384359.1:c.*94T>C

Select item 148323218716.

rs1483232187 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:48750836 (GRCh38)
19:49254093 (GRCh37)
Canonical SPDI:: NC_000019.10:48750835:C:G
Gene:: FUT1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.48750836C>G, NC_000019.9:g.49254093C>G, NG_007510.2:g.9555G>C, NM_000148.4:c.446G>C, NM_000148.3:c.446G>C, NM_001329877.1:c.446G>C, NM_001384359.1:c.446G>C, NP_000139.1:p.Trp149Ser, NP_001316806.1:p.Trp149Ser, NP_001371288.1:p.Trp149Ser

Select item 148219041717.

rs1482190417 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 19:48749447 (GRCh38)
19:49252704 (GRCh37)
Canonical SPDI:: NC_000019.10:48749443:TCTCT:TCT
Gene:: FUT1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: TCT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.48749445CT[1], NC_000019.9:g.49252702CT[1], NG_007510.2:g.10944GA[1], NM_000148.4:c.*737GA[1], NM_000148.3:c.*737GA[1], NM_001329877.1:c.*737GA[1], NM_001384359.1:c.*737GA[1]

Select item 148213902418.

rs1482139024 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:48748546 (GRCh38)
19:49251803 (GRCh37)
Canonical SPDI:: NC_000019.10:48748545:A:G
Gene:: FUT1 (Varview), IZUMO1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000019.10:g.48748546A>G, NC_000019.9:g.49251803A>G, NG_007510.2:g.11845T>C, NM_000148.4:c.*1638T>C, NM_000148.3:c.*1638T>C, NM_001329877.1:c.*1638T>C, NM_001384359.1:c.*1638T>C

Select item 148129221819.

rs1481292218 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:48750403 (GRCh38)
19:49253660 (GRCh37)
Canonical SPDI:: NC_000019.10:48750402:G:A
Gene:: FUT1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.48750403G>A, NC_000019.9:g.49253660G>A, NG_007510.2:g.9988C>T, NM_000148.4:c.879C>T, NM_000148.3:c.879C>T, NM_001329877.1:c.879C>T, NM_001384359.1:c.879C>T

Select item 148127942020.

rs1481279420 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:48750414 (GRCh38)
19:49253671 (GRCh37)
Canonical SPDI:: NC_000019.10:48750413:G:C
Gene:: FUT1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.48750414G>C, NC_000019.9:g.49253671G>C, NG_007510.2:g.9977C>G, NM_000148.4:c.868C>G, NM_000148.3:c.868C>G, NM_001329877.1:c.868C>G, NM_001384359.1:c.868C>G, NP_000139.1:p.Pro290Ala, NP_001316806.1:p.Pro290Ala, NP_001371288.1:p.Pro290Ala

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