SNP Links for Nucleotide (Select 756398254) - SNP

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Links from Nucleotide

Items: 1 to 20 of 583

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Select item 14895645961.

rs1489564596 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:8371432 (GRCh38)
17:8274750 (GRCh37)
Canonical SPDI:: NC_000017.11:8371431:T:C
Gene:: KRBA2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_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.8371432T>C, NC_000017.10:g.8274750T>C, NM_213597.3:c.103A>G, NM_213597.2:c.103A>G, NP_998762.1:p.Met35Val

Select item 14895100262.

rs1489510026 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:8369884 (GRCh38)
17:8273202 (GRCh37)
Canonical SPDI:: NC_000017.11:8369883:T:C
Gene:: KRBA2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.0002/1 (ALFA)
C=0.0002/1 (Estonian)
HGVS:: NC_000017.11:g.8369884T>C, NC_000017.10:g.8273202T>C, NM_001304947.3:c.483A>G, NM_001304947.2:c.483A>G, NM_001304947.1:c.483A>G, NM_213597.3:c.729A>G, NM_213597.2:c.729A>G

Select item 14894886823.

rs1489488682 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:8371481 (GRCh38)
17:8274799 (GRCh37)
Canonical SPDI:: NC_000017.11:8371480:C:G
Gene:: KRBA2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000011/3 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000017.11:g.8371481C>G, NC_000017.10:g.8274799C>G, NM_213597.3:c.54G>C, NM_213597.2:c.54G>C

Select item 14889338404.

rs1488933840 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:8370074 (GRCh38)
17:8273392 (GRCh37)
Canonical SPDI:: NC_000017.11:8370073:T:C
Gene:: KRBA2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.8370074T>C, NC_000017.10:g.8273392T>C, NM_001304947.3:c.293A>G, NM_001304947.2:c.293A>G, NM_001304947.1:c.293A>G, NM_213597.3:c.539A>G, NM_213597.2:c.539A>G, NP_001291876.1:p.Glu98Gly, NP_998762.1:p.Glu180Gly

Select item 14866234645.

rs1486623464 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:8369766 (GRCh38)
17:8273084 (GRCh37)
Canonical SPDI:: NC_000017.11:8369765:A:C
Gene:: KRBA2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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.8369766A>C, NC_000017.10:g.8273084A>C, NM_001304947.3:c.601T>G, NM_001304947.2:c.601T>G, NM_001304947.1:c.601T>G, NM_213597.3:c.847T>G, NM_213597.2:c.847T>G, NP_001291876.1:p.Tyr201Asp, NP_998762.1:p.Tyr283Asp

Select item 14864574426.

rs1486457442 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:8368767 (GRCh38)
17:8272085 (GRCh37)
Canonical SPDI:: NC_000017.11:8368766:G:C
Gene:: KRBA2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.8368767G>C, NC_000017.10:g.8272085G>C, NM_001304947.3:c.*367C>G, NM_001304947.2:c.*367C>G, NM_001304947.1:c.*367C>G, NM_213597.3:c.*367C>G, NM_213597.2:c.*367C>G

Select item 14862950177.

rs1486295017 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:8370270 (GRCh38)
17:8273588 (GRCh37)
Canonical SPDI:: NC_000017.11:8370269:T:C
Gene:: KRBA2 (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.8370270T>C, NC_000017.10:g.8273588T>C, NM_001304947.3:c.97A>G, NM_001304947.2:c.97A>G, NM_001304947.1:c.97A>G, NM_213597.3:c.343A>G, NM_213597.2:c.343A>G, NP_001291876.1:p.Ser33Gly, NP_998762.1:p.Ser115Gly

Select item 14855114258.

rs1485511425 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:8369345 (GRCh38)
17:8272663 (GRCh37)
Canonical SPDI:: NC_000017.11:8369344:G:A
Gene:: KRBA2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.8369345G>A, NC_000017.10:g.8272663G>A, NM_001304947.3:c.1022C>T, NM_001304947.2:c.1022C>T, NM_001304947.1:c.1022C>T, NM_213597.3:c.1268C>T, NM_213597.2:c.1268C>T, NP_001291876.1:p.Ser341Leu, NP_998762.1:p.Ser423Leu

Select item 14850657189.

rs1485065718 [Homo sapiens]

Variant type:: DELINS
Alleles:: AATT>- [Show Flanks]
Chromosome:: 17:8371381 (GRCh38)
17:8274699 (GRCh37)
Canonical SPDI:: NC_000017.11:8371379:TAATT:T
Gene:: KRBA2 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (GnomAD_exomes)
-=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.8371381_8371384del, NC_000017.10:g.8274699_8274702del, NM_213597.3:c.152_155del, NM_213597.2:c.152_155del, NP_998762.1:p.Asn51fs

Select item 148369029710.

rs1483690297 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:8369240 (GRCh38)
17:8272558 (GRCh37)
Canonical SPDI:: NC_000017.11:8369239:G:A
Gene:: KRBA2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.8369240G>A, NC_000017.10:g.8272558G>A, NM_001304947.3:c.1127C>T, NM_001304947.2:c.1127C>T, NM_001304947.1:c.1127C>T, NM_213597.3:c.1373C>T, NM_213597.2:c.1373C>T, NP_001291876.1:p.Ala376Val, NP_998762.1:p.Ala458Val

Select item 148134277211.

rs1481342772 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:8369968 (GRCh38)
17:8273286 (GRCh37)
Canonical SPDI:: NC_000017.11:8369967:C:A
Gene:: KRBA2 (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)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.8369968C>A, NC_000017.10:g.8273286C>A, NM_001304947.3:c.399G>T, NM_001304947.2:c.399G>T, NM_001304947.1:c.399G>T, NM_213597.3:c.645G>T, NM_213597.2:c.645G>T, NP_001291876.1:p.Glu133Asp, NP_998762.1:p.Glu215Asp

Select item 148095656712.

rs1480956567 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:8369604 (GRCh38)
17:8272922 (GRCh37)
Canonical SPDI:: NC_000017.11:8369603:C:T
Gene:: KRBA2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.8369604C>T, NC_000017.10:g.8272922C>T, NM_001304947.3:c.763G>A, NM_001304947.2:c.763G>A, NM_001304947.1:c.763G>A, NM_213597.3:c.1009G>A, NM_213597.2:c.1009G>A, NP_001291876.1:p.Glu255Lys, NP_998762.1:p.Glu337Lys

Select item 147966994913.

rs1479669949 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:8369612 (GRCh38)
17:8272930 (GRCh37)
Canonical SPDI:: NC_000017.11:8369611:A:G
Gene:: KRBA2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.8369612A>G, NC_000017.10:g.8272930A>G, NM_001304947.3:c.755T>C, NM_001304947.2:c.755T>C, NM_001304947.1:c.755T>C, NM_213597.3:c.1001T>C, NM_213597.2:c.1001T>C, NP_001291876.1:p.Val252Ala, NP_998762.1:p.Val334Ala

Select item 147837726314.

rs1478377263 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:8368965 (GRCh38)
17:8272283 (GRCh37)
Canonical SPDI:: NC_000017.11:8368964:A:G
Gene:: KRBA2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.8368965A>G, NC_000017.10:g.8272283A>G, NM_001304947.3:c.*169T>C, NM_001304947.2:c.*169T>C, NM_001304947.1:c.*169T>C, NM_213597.3:c.*169T>C, NM_213597.2:c.*169T>C

Select item 147833172515.

rs1478331725 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:8369928 (GRCh38)
17:8273246 (GRCh37)
Canonical SPDI:: NC_000017.11:8369927:C:T
Gene:: KRBA2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.8369928C>T, NC_000017.10:g.8273246C>T, NM_001304947.3:c.439G>A, NM_001304947.2:c.439G>A, NM_001304947.1:c.439G>A, NM_213597.3:c.685G>A, NM_213597.2:c.685G>A, NP_001291876.1:p.Val147Ile, NP_998762.1:p.Val229Ile

Select item 147737099316.

rs1477370993 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 17:8369732 (GRCh38)
17:8273050 (GRCh37)
Canonical SPDI:: NC_000017.11:8369731:AAAA:AAA
Gene:: KRBA2 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.8369735del, NC_000017.10:g.8273053del, NM_001304947.3:c.635del, NM_001304947.2:c.635del, NM_001304947.1:c.635del, NM_213597.3:c.881del, NM_213597.2:c.881del, NP_001291876.1:p.Leu212fs, NP_998762.1:p.Leu294fs

Select item 147624760917.

rs1476247609 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:8370133 (GRCh38)
17:8273451 (GRCh37)
Canonical SPDI:: NC_000017.11:8370132:T:G
Gene:: KRBA2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.8370133T>G, NC_000017.10:g.8273451T>G, NM_001304947.3:c.234A>C, NM_001304947.2:c.234A>C, NM_001304947.1:c.234A>C, NM_213597.3:c.480A>C, NM_213597.2:c.480A>C

Select item 147584278018.

rs1475842780 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:8369823 (GRCh38)
17:8273141 (GRCh37)
Canonical SPDI:: NC_000017.11:8369822:G:A
Gene:: KRBA2 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000031/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.8369823G>A, NC_000017.10:g.8273141G>A, NM_001304947.3:c.544C>T, NM_001304947.2:c.544C>T, NM_001304947.1:c.544C>T, NM_213597.3:c.790C>T, NM_213597.2:c.790C>T, NP_001291876.1:p.Gln182Ter, NP_998762.1:p.Gln264Ter

Select item 147461342919.

rs1474613429 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:8371424 (GRCh38)
17:8274742 (GRCh37)
Canonical SPDI:: NC_000017.11:8371423:A:C
Gene:: KRBA2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.8371424A>C, NC_000017.10:g.8274742A>C, NM_213597.3:c.111T>G, NM_213597.2:c.111T>G, NP_998762.1:p.Phe37Leu

Select item 147424019720.

rs1474240197 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:8369871 (GRCh38)
17:8273189 (GRCh37)
Canonical SPDI:: NC_000017.11:8369870:C:G
Gene:: KRBA2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000017.11:g.8369871C>G, NC_000017.10:g.8273189C>G, NM_001304947.3:c.496G>C, NM_001304947.2:c.496G>C, NM_001304947.1:c.496G>C, NM_213597.3:c.742G>C, NM_213597.2:c.742G>C, NP_001291876.1:p.Gly166Arg, NP_998762.1:p.Gly248Arg

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