SNP Links for Nucleotide (Select 767995707) - SNP

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Links from Nucleotide

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Select item 14901610101.

rs1490161010 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:37744575 (GRCh38)
17:36104566 (GRCh37)
Canonical SPDI:: NC_000017.11:37744574:C:T
Gene:: HNF1B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000017.11:g.37744575C>T, NG_013019.2:g.5532G>A, NM_000458.4:c.310G>A, NM_000458.3:c.310G>A, NM_000458.2:c.310G>A, NM_001165923.4:c.310G>A, NM_001165923.3:c.310G>A, NM_001165923.2:c.310G>A, NM_001165923.1:c.310G>A, NM_001304286.2:c.310G>A, NM_001304286.1:c.310G>A, NM_001411100.1:c.310G>A, NT_187614.1:g.1983631C>T, NC_000017.10:g.36104566C>T, XM_011525163.3:c.310G>A, XM_011525163.2:c.310G>A, XM_011525163.1:c.310G>A, XM_011525162.3:c.310G>A, XM_011525162.2:c.310G>A, XM_011525162.1:c.310G>A, XM_047436630.1:c.310G>A, XM_047436631.1:c.310G>A, XM_011525160.1:c.310G>A, NM_006481.1:c.310G>A, XM_011525161.1:c.310G>A, XM_011525164.1:c.310G>A, NP_000449.1:p.Ala104Thr, NP_001159395.1:p.Ala104Thr, NP_001291215.1:p.Ala104Thr, XP_011523465.1:p.Ala104Thr, XP_011523464.1:p.Ala104Thr, XP_047292586.1:p.Ala104Thr, XP_047292587.1:p.Ala104Thr, XP_011523462.1:p.Ala104Thr, XP_011523463.1:p.Ala104Thr, XP_011523466.1:p.Ala104Thr

Select item 14892079732.

rs1489207973 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:37744608 (GRCh38)
17:36104599 (GRCh37)
Canonical SPDI:: NC_000017.11:37744607:T:G
Gene:: HNF1B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.37744608T>G, NG_013019.2:g.5499A>C, NM_000458.4:c.277A>C, NM_000458.3:c.277A>C, NM_000458.2:c.277A>C, NM_001165923.4:c.277A>C, NM_001165923.3:c.277A>C, NM_001165923.2:c.277A>C, NM_001165923.1:c.277A>C, NM_001304286.2:c.277A>C, NM_001304286.1:c.277A>C, NM_001411100.1:c.277A>C, NT_187614.1:g.1983664T>G, NC_000017.10:g.36104599T>G, XM_011525163.3:c.277A>C, XM_011525163.2:c.277A>C, XM_011525163.1:c.277A>C, XM_011525162.3:c.277A>C, XM_011525162.2:c.277A>C, XM_011525162.1:c.277A>C, XM_047436630.1:c.277A>C, XM_047436631.1:c.277A>C, XM_011525160.1:c.277A>C, NM_006481.1:c.277A>C, XM_011525161.1:c.277A>C, XM_011525164.1:c.277A>C, NP_000449.1:p.Lys93Gln, NP_001159395.1:p.Lys93Gln, NP_001291215.1:p.Lys93Gln, XP_011523465.1:p.Lys93Gln, XP_011523464.1:p.Lys93Gln, XP_047292586.1:p.Lys93Gln, XP_047292587.1:p.Lys93Gln, XP_011523462.1:p.Lys93Gln, XP_011523463.1:p.Lys93Gln, XP_011523466.1:p.Lys93Gln

Select item 14870536083.

rs1487053608 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:37739537 (GRCh38)
17:36099528 (GRCh37)
Canonical SPDI:: NC_000017.11:37739536:G:A
Gene:: HNF1B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.37739537G>A, NG_013019.2:g.10570C>T, NM_000458.4:c.447C>T, NM_000458.3:c.447C>T, NM_000458.2:c.447C>T, NM_001165923.4:c.447C>T, NM_001165923.3:c.447C>T, NM_001165923.2:c.447C>T, NM_001165923.1:c.447C>T, NM_001304286.2:c.447C>T, NM_001304286.1:c.447C>T, NM_001411100.1:c.447C>T, NT_187614.1:g.1978593G>A, NC_000017.10:g.36099528G>A, XM_011525163.3:c.447C>T, XM_011525163.2:c.447C>T, XM_011525163.1:c.447C>T, XM_011525162.3:c.447C>T, XM_011525162.2:c.447C>T, XM_011525162.1:c.447C>T, XM_047436630.1:c.447C>T, XM_047436631.1:c.447C>T, XM_011525160.1:c.447C>T, XM_011525164.1:c.447C>T, XM_011525161.1:c.447C>T, NM_006481.1:c.447C>T

Select item 14856349944.

rs1485634994 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:37745026 (GRCh38)
17:36105017 (GRCh37)
Canonical SPDI:: NC_000017.11:37745025:C:T
Gene:: HNF1B (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.37745026C>T, NG_013019.2:g.5081G>A, NM_000458.4:c.-142G>A, NM_000458.3:c.-142G>A, NM_000458.2:c.-142G>A, NM_001165923.4:c.-142G>A, NM_001165923.3:c.-142G>A, NM_001165923.2:c.-142G>A, NM_001165923.1:c.-142G>A, NM_001304286.2:c.-142G>A, NM_001304286.1:c.-142G>A, NM_001411100.1:c.-142G>A, NT_187614.1:g.1984082C>T, NC_000017.10:g.36105017C>T, XM_011525163.3:c.-142G>A, XM_011525163.2:c.-142G>A, XM_011525163.1:c.-142G>A, XM_011525162.3:c.-142G>A, XM_011525162.2:c.-142G>A, XM_011525162.1:c.-142G>A, XM_047436630.1:c.-142G>A, XM_047436631.1:c.-142G>A, XM_011525160.1:c.-142G>A, XM_011525164.1:c.-142G>A, XM_011525161.1:c.-142G>A, NM_006481.1:c.-142G>A

Select item 14853816015.

rs1485381601 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:37700987 (GRCh38)
17:36060992 (GRCh37)
Canonical SPDI:: NC_000017.11:37700986:T:G
Gene:: HNF1B (Varview), LOC124903989 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,intron_variant,genic_downstream_transcript_variant,synonymous_variant,upstream_transcript_variant
HGVS:: NC_000017.11:g.37700987T>G, NG_013019.2:g.49120A>C, NM_000458.4:c.1530A>C, NM_000458.3:c.1530A>C, NM_000458.2:c.1530A>C, NM_001165923.4:c.1452A>C, NM_001165923.3:c.1452A>C, NM_001165923.2:c.1452A>C, NM_001165923.1:c.1452A>C, NM_001411100.1:c.1530A>C, NT_187614.1:g.1940057T>G, NC_000017.10:g.36060992T>G, XM_011525160.1:c.1530A>C, XM_011525164.1:c.1452A>C

Select item 14851561896.

rs1485156189 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:37686712 (GRCh38)
17:36046715 (GRCh37)
Canonical SPDI:: NC_000017.11:37686711:A:G
Gene:: HNF1B (Varview)
Functional Consequence:: 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_000017.11:g.37686712A>G, NG_013019.2:g.63395T>C, NM_000458.4:c.*660T>C, NM_000458.3:c.*660T>C, NM_000458.2:c.*660T>C, NM_001165923.4:c.*660T>C, NM_001165923.3:c.*660T>C, NM_001165923.2:c.*660T>C, NM_001165923.1:c.*660T>C, NM_001304286.2:c.*568T>C, NM_001304286.1:c.*568T>C, NM_001411100.1:c.*568T>C, NT_187614.1:g.1925780A>G, NC_000017.10:g.36046715A>G, XM_011525160.1:c.*568T>C, XM_011525161.1:c.*660T>C, XM_011525164.1:c.*568T>C, XM_047436630.1:c.*660T>C

Select item 14846736967.

rs1484673696 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:37731802 (GRCh38)
17:36091793 (GRCh37)
Canonical SPDI:: NC_000017.11:37731801:G:A
Gene:: HNF1B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.37731802G>A, NG_013019.2:g.18305C>T, NM_000458.4:c.838C>T, NM_000458.3:c.838C>T, NM_000458.2:c.838C>T, NM_001165923.4:c.760C>T, NM_001165923.3:c.760C>T, NM_001165923.2:c.760C>T, NM_001165923.1:c.760C>T, NM_001304286.2:c.760C>T, NM_001304286.1:c.760C>T, NM_001411100.1:c.838C>T, NT_187614.1:g.1970858G>A, NC_000017.10:g.36091793G>A, XM_011525163.3:c.838C>T, XM_011525163.2:c.838C>T, XM_011525163.1:c.838C>T, XM_011525162.3:c.838C>T, XM_011525162.2:c.838C>T, XM_011525162.1:c.838C>T, XM_047436630.1:c.760C>T, XM_047436631.1:c.760C>T, XM_011525160.1:c.838C>T, XM_011525164.1:c.760C>T, XM_011525161.1:c.838C>T, NM_006481.1:c.838C>T, NP_000449.1:p.Pro280Ser, NP_001159395.1:p.Pro254Ser, NP_001291215.1:p.Pro254Ser, XP_011523465.1:p.Pro280Ser, XP_011523464.1:p.Pro280Ser, XP_047292586.1:p.Pro254Ser, XP_047292587.1:p.Pro254Ser, XP_011523462.1:p.Pro280Ser, XP_011523466.1:p.Pro254Ser, XP_011523463.1:p.Pro280Ser

Select item 14846128848.

rs1484612884 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:37701034 (GRCh38)
17:36061039 (GRCh37)
Canonical SPDI:: NC_000017.11:37701033:T:C
Gene:: HNF1B (Varview), LOC124903989 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,intron_variant,genic_downstream_transcript_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000017.11:g.37701034T>C, NG_013019.2:g.49073A>G, NM_000458.4:c.1483A>G, NM_000458.3:c.1483A>G, NM_000458.2:c.1483A>G, NM_001165923.4:c.1405A>G, NM_001165923.3:c.1405A>G, NM_001165923.2:c.1405A>G, NM_001165923.1:c.1405A>G, NM_001411100.1:c.1483A>G, NT_187614.1:g.1940104T>C, NC_000017.10:g.36061039T>C, XM_011525160.1:c.1483A>G, XM_011525164.1:c.1405A>G, NP_000449.1:p.Met495Val, NP_001159395.1:p.Met469Val, XP_011523462.1:p.Met495Val, XP_011523466.1:p.Met469Val

Select item 14809462559.

rs1480946255 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:37744794 (GRCh38)
17:36104785 (GRCh37)
Canonical SPDI:: NC_000017.11:37744793:C:T
Gene:: HNF1B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.37744794C>T, NG_013019.2:g.5313G>A, NM_000458.4:c.91G>A, NM_000458.3:c.91G>A, NM_000458.2:c.91G>A, NM_001165923.4:c.91G>A, NM_001165923.3:c.91G>A, NM_001165923.2:c.91G>A, NM_001165923.1:c.91G>A, NM_001304286.2:c.91G>A, NM_001304286.1:c.91G>A, NM_001411100.1:c.91G>A, NT_187614.1:g.1983850C>T, NC_000017.10:g.36104785C>T, XM_011525163.3:c.91G>A, XM_011525163.2:c.91G>A, XM_011525163.1:c.91G>A, XM_011525162.3:c.91G>A, XM_011525162.2:c.91G>A, XM_011525162.1:c.91G>A, XM_047436630.1:c.91G>A, XM_047436631.1:c.91G>A, XM_011525160.1:c.91G>A, NM_006481.1:c.91G>A, XM_011525161.1:c.91G>A, XM_011525164.1:c.91G>A, NP_000449.1:p.Glu31Lys, NP_001159395.1:p.Glu31Lys, NP_001291215.1:p.Glu31Lys, XP_011523465.1:p.Glu31Lys, XP_011523464.1:p.Glu31Lys, XP_047292586.1:p.Glu31Lys, XP_047292587.1:p.Glu31Lys, XP_011523462.1:p.Glu31Lys, XP_011523463.1:p.Glu31Lys, XP_011523466.1:p.Glu31Lys

Select item 148080933710.

rs1480809337 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:37744656 (GRCh38)
17:36104647 (GRCh37)
Canonical SPDI:: NC_000017.11:37744655:C:G
Gene:: HNF1B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.37744656C>G, NG_013019.2:g.5451G>C, NM_000458.4:c.229G>C, NM_000458.3:c.229G>C, NM_000458.2:c.229G>C, NM_001165923.4:c.229G>C, NM_001165923.3:c.229G>C, NM_001165923.2:c.229G>C, NM_001165923.1:c.229G>C, NM_001304286.2:c.229G>C, NM_001304286.1:c.229G>C, NM_001411100.1:c.229G>C, NT_187614.1:g.1983712C>G, NC_000017.10:g.36104647C>G, XM_011525163.3:c.229G>C, XM_011525163.2:c.229G>C, XM_011525163.1:c.229G>C, XM_011525162.3:c.229G>C, XM_011525162.2:c.229G>C, XM_011525162.1:c.229G>C, XM_047436630.1:c.229G>C, XM_047436631.1:c.229G>C, XM_011525160.1:c.229G>C, XM_011525164.1:c.229G>C, XM_011525161.1:c.229G>C, NM_006481.1:c.229G>C, NP_000449.1:p.Asp77His, NP_001159395.1:p.Asp77His, NP_001291215.1:p.Asp77His, XP_011523465.1:p.Asp77His, XP_011523464.1:p.Asp77His, XP_047292586.1:p.Asp77His, XP_047292587.1:p.Asp77His, XP_011523462.1:p.Asp77His, XP_011523466.1:p.Asp77His, XP_011523463.1:p.Asp77His

Select item 147944762211.

rs1479447622 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:37686648 (GRCh38)
17:36046651 (GRCh37)
Canonical SPDI:: NC_000017.11:37686647:T:C
Gene:: HNF1B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.37686648T>C, NG_013019.2:g.63459A>G, NM_000458.4:c.*724A>G, NM_000458.3:c.*724A>G, NM_000458.2:c.*724A>G, NM_001165923.4:c.*724A>G, NM_001165923.3:c.*724A>G, NM_001165923.2:c.*724A>G, NM_001165923.1:c.*724A>G, NM_001304286.2:c.*632A>G, NM_001304286.1:c.*632A>G, NM_001411100.1:c.*632A>G, NT_187614.1:g.1925716T>C, NC_000017.10:g.36046651T>C, XM_011525160.1:c.*632A>G, XM_011525161.1:c.*724A>G, XM_011525164.1:c.*632A>G, XM_047436630.1:c.*724A>G

Select item 147591501912.

rs1475915019 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:37687243 (GRCh38)
17:36047246 (GRCh37)
Canonical SPDI:: NC_000017.11:37687242:T:G
Gene:: HNF1B (Varview)
Functional Consequence:: 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_000017.11:g.37687243T>G, NG_013019.2:g.62864A>C, NM_000458.4:c.*129A>C, NM_000458.3:c.*129A>C, NM_000458.2:c.*129A>C, NM_001165923.4:c.*129A>C, NM_001165923.3:c.*129A>C, NM_001165923.2:c.*129A>C, NM_001165923.1:c.*129A>C, NM_001304286.2:c.*37A>C, NM_001304286.1:c.*37A>C, NM_001411100.1:c.*37A>C, NT_187614.1:g.1926311T>G, NC_000017.10:g.36047246T>G, XM_011525160.1:c.*37A>C, XM_011525161.1:c.*129A>C, XM_011525164.1:c.*37A>C, XM_047436630.1:c.*129A>C

Select item 147577743913.

rs1475777439 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:37731785 (GRCh38)
17:36091776 (GRCh37)
Canonical SPDI:: NC_000017.11:37731784:G:A
Gene:: HNF1B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.37731785G>A, NG_013019.2:g.18322C>T, NM_000458.4:c.855C>T, NM_000458.3:c.855C>T, NM_000458.2:c.855C>T, NM_001165923.4:c.777C>T, NM_001165923.3:c.777C>T, NM_001165923.2:c.777C>T, NM_001165923.1:c.777C>T, NM_001304286.2:c.777C>T, NM_001304286.1:c.777C>T, NM_001411100.1:c.855C>T, NT_187614.1:g.1970841G>A, NC_000017.10:g.36091776G>A, XM_011525163.3:c.855C>T, XM_011525163.2:c.855C>T, XM_011525163.1:c.855C>T, XM_011525162.3:c.855C>T, XM_011525162.2:c.855C>T, XM_011525162.1:c.855C>T, XM_047436630.1:c.777C>T, XM_047436631.1:c.777C>T, XM_011525160.1:c.855C>T, XM_011525164.1:c.777C>T, XM_011525161.1:c.855C>T, NM_006481.1:c.855C>T

Select item 147568187814.

rs1475681878 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:37687189 (GRCh38)
17:36047192 (GRCh37)
Canonical SPDI:: NC_000017.11:37687188:C:A
Gene:: HNF1B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.37687189C>A, NG_013019.2:g.62918G>T, NM_000458.4:c.*183G>T, NM_000458.3:c.*183G>T, NM_000458.2:c.*183G>T, NM_001165923.4:c.*183G>T, NM_001165923.3:c.*183G>T, NM_001165923.2:c.*183G>T, NM_001165923.1:c.*183G>T, NM_001304286.2:c.*91G>T, NM_001304286.1:c.*91G>T, NM_001411100.1:c.*91G>T, NT_187614.1:g.1926257C>A, NC_000017.10:g.36047192C>A, XM_011525160.1:c.*91G>T, XM_011525161.1:c.*183G>T, XM_011525164.1:c.*91G>T, XM_047436630.1:c.*183G>T

Select item 147540616515.

rs1475406165 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:37687223 (GRCh38)
17:36047226 (GRCh37)
Canonical SPDI:: NC_000017.11:37687222:A:C
Gene:: HNF1B (Varview)
Functional Consequence:: 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_000017.11:g.37687223A>C, NG_013019.2:g.62884T>G, NM_000458.4:c.*149T>G, NM_000458.3:c.*149T>G, NM_000458.2:c.*149T>G, NM_001165923.4:c.*149T>G, NM_001165923.3:c.*149T>G, NM_001165923.2:c.*149T>G, NM_001165923.1:c.*149T>G, NM_001304286.2:c.*57T>G, NM_001304286.1:c.*57T>G, NM_001411100.1:c.*57T>G, NT_187614.1:g.1926291A>C, NC_000017.10:g.36047226A>C, XM_011525160.1:c.*57T>G, XM_011525161.1:c.*149T>G, XM_011525164.1:c.*57T>G, XM_047436630.1:c.*149T>G

Select item 147498106316.

rs1474981063 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:37731636 (GRCh38)
17:36091627 (GRCh37)
Canonical SPDI:: NC_000017.11:37731635:G:A
Gene:: HNF1B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.37731636G>A, NG_013019.2:g.18471C>T, NM_000458.4:c.1004C>T, NM_000458.3:c.1004C>T, NM_000458.2:c.1004C>T, NM_001165923.4:c.926C>T, NM_001165923.3:c.926C>T, NM_001165923.2:c.926C>T, NM_001165923.1:c.926C>T, NM_001304286.2:c.926C>T, NM_001304286.1:c.926C>T, NM_001411100.1:c.1004C>T, NT_187614.1:g.1970692G>A, NC_000017.10:g.36091627G>A, XM_011525163.3:c.1004C>T, XM_011525163.2:c.1004C>T, XM_011525163.1:c.1004C>T, XM_011525162.3:c.1004C>T, XM_011525162.2:c.1004C>T, XM_011525162.1:c.1004C>T, XM_047436630.1:c.926C>T, XM_047436631.1:c.926C>T, XM_011525160.1:c.1004C>T, NM_006481.1:c.1004C>T, XM_011525161.1:c.1004C>T, XM_011525164.1:c.926C>T, NP_000449.1:p.Pro335Leu, NP_001159395.1:p.Pro309Leu, NP_001291215.1:p.Pro309Leu, XP_011523465.1:p.Pro335Leu, XP_011523464.1:p.Pro335Leu, XP_047292586.1:p.Pro309Leu, XP_047292587.1:p.Pro309Leu, XP_011523462.1:p.Pro335Leu, XP_011523463.1:p.Pro335Leu, XP_011523466.1:p.Pro309Leu

Select item 147494724417.

rs1474947244 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:37687238 (GRCh38)
17:36047241 (GRCh37)
Canonical SPDI:: NC_000017.11:37687237:G:A
Gene:: HNF1B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
A=0.000071/1 (TOMMO)
HGVS:: NC_000017.11:g.37687238G>A, NG_013019.2:g.62869C>T, NM_000458.4:c.*134C>T, NM_000458.3:c.*134C>T, NM_000458.2:c.*134C>T, NM_001165923.4:c.*134C>T, NM_001165923.3:c.*134C>T, NM_001165923.2:c.*134C>T, NM_001165923.1:c.*134C>T, NM_001304286.2:c.*42C>T, NM_001304286.1:c.*42C>T, NM_001411100.1:c.*42C>T, NT_187614.1:g.1926306G>A, NC_000017.10:g.36047241G>A, XM_011525160.1:c.*42C>T, XM_011525161.1:c.*134C>T, XM_011525164.1:c.*42C>T, XM_047436630.1:c.*134C>T

Select item 147491563418.

rs1474915634 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:37744593 (GRCh38)
17:36104584 (GRCh37)
Canonical SPDI:: NC_000017.11:37744592:G:C
Gene:: HNF1B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.37744593G>C, NG_013019.2:g.5514C>G, NM_000458.4:c.292C>G, NM_000458.3:c.292C>G, NM_000458.2:c.292C>G, NM_001165923.4:c.292C>G, NM_001165923.3:c.292C>G, NM_001165923.2:c.292C>G, NM_001165923.1:c.292C>G, NM_001304286.2:c.292C>G, NM_001304286.1:c.292C>G, NM_001411100.1:c.292C>G, NT_187614.1:g.1983649G>C, NC_000017.10:g.36104584G>C, XM_011525163.3:c.292C>G, XM_011525163.2:c.292C>G, XM_011525163.1:c.292C>G, XM_011525162.3:c.292C>G, XM_011525162.2:c.292C>G, XM_011525162.1:c.292C>G, XM_047436630.1:c.292C>G, XM_047436631.1:c.292C>G, XM_011525160.1:c.292C>G, XM_011525164.1:c.292C>G, XM_011525161.1:c.292C>G, NM_006481.1:c.292C>G, NP_000449.1:p.Leu98Val, NP_001159395.1:p.Leu98Val, NP_001291215.1:p.Leu98Val, XP_011523465.1:p.Leu98Val, XP_011523464.1:p.Leu98Val, XP_047292586.1:p.Leu98Val, XP_047292587.1:p.Leu98Val, XP_011523462.1:p.Leu98Val, XP_011523466.1:p.Leu98Val, XP_011523463.1:p.Leu98Val

Select item 147466171919.

rs1474661719 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:37686837 (GRCh38)
17:36046840 (GRCh37)
Canonical SPDI:: NC_000017.11:37686836:G:C
Gene:: HNF1B (Varview)
Functional Consequence:: 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_000017.11:g.37686837G>C, NG_013019.2:g.63270C>G, NM_000458.4:c.*535C>G, NM_000458.3:c.*535C>G, NM_000458.2:c.*535C>G, NM_001165923.4:c.*535C>G, NM_001165923.3:c.*535C>G, NM_001165923.2:c.*535C>G, NM_001165923.1:c.*535C>G, NM_001304286.2:c.*443C>G, NM_001304286.1:c.*443C>G, NM_001411100.1:c.*443C>G, NT_187614.1:g.1925905G>C, NC_000017.10:g.36046840G>C, XM_011525160.1:c.*443C>G, XM_011525161.1:c.*535C>G, XM_011525164.1:c.*443C>G, XM_047436630.1:c.*535C>G

Select item 147436042020.

rs1474360420 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:37744783 (GRCh38)
17:36104774 (GRCh37)
Canonical SPDI:: NC_000017.11:37744782:C:A
Gene:: HNF1B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000056/2 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.37744783C>A, NG_013019.2:g.5324G>T, NM_000458.4:c.102G>T, NM_000458.3:c.102G>T, NM_000458.2:c.102G>T, NM_001165923.4:c.102G>T, NM_001165923.3:c.102G>T, NM_001165923.2:c.102G>T, NM_001165923.1:c.102G>T, NM_001304286.2:c.102G>T, NM_001304286.1:c.102G>T, NM_001411100.1:c.102G>T, NT_187614.1:g.1983839C>A, NC_000017.10:g.36104774C>A, XM_011525163.3:c.102G>T, XM_011525163.2:c.102G>T, XM_011525163.1:c.102G>T, XM_011525162.3:c.102G>T, XM_011525162.2:c.102G>T, XM_011525162.1:c.102G>T, XM_047436630.1:c.102G>T, XM_047436631.1:c.102G>T, XM_011525160.1:c.102G>T, XM_011525164.1:c.102G>T, XM_011525161.1:c.102G>T, NM_006481.1:c.102G>T

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