SNP Links for Nucleotide (Select 471838916) - SNP

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:20845896 (GRCh38)
15:21051225 (GRCh37)
Canonical SPDI:: NC_000015.10:20845895:T:C
Gene:: POTEB2 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000015.10:g.20845896T>C, NC_000015.9:g.21051225T>C, NW_021160017.1:g.1090730T>C, NM_001277304.1:c.1235A>G, NM_001277304.2:c.1235A>G, NM_001277303.1:c.1235A>G, NR_102390.1:n.1059A>G, NP_001264232.1:p.Gln412Arg

Select item 14786932268.

rs1478693226 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:20866197 (GRCh38)
15:21071526 (GRCh37)
Canonical SPDI:: NC_000015.10:20866196:G:A
Gene:: POTEB2 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000015.10:g.20866197G>A, NC_000015.9:g.21071526G>A, NW_021160017.1:g.1111019G>A, XM_006720354.4:c.85C>T, XM_006720354.3:c.85C>T, XM_006720354.2:c.85C>T, XM_006720354.1:c.85C>T, XM_011543793.3:c.85C>T, XM_011543793.2:c.85C>T, XM_011543793.1:c.85C>T, XM_017021853.2:c.85C>T, XM_017021853.1:c.85C>T, NM_001277304.1:c.85C>T, NM_001277304.2:c.85C>T, NM_001277303.1:c.85C>T, NR_102390.1:n.118C>T, XP_006720417.1:p.His29Tyr, XP_011542095.1:p.His29Tyr, XP_016877342.1:p.His29Tyr, NP_001264232.1:p.His29Tyr

Select item 14785484469.

rs1478548446 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:20866254 (GRCh38)
15:21071583 (GRCh37)
Canonical SPDI:: NC_000015.10:20866253:C:T
Gene:: POTEB2 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000015.10:g.20866254C>T, NC_000015.9:g.21071583C>T, NW_021160017.1:g.1111187C>T, XM_006720354.4:c.28G>A, XM_006720354.3:c.28G>A, XM_006720354.2:c.28G>A, XM_006720354.1:c.28G>A, XM_011543793.3:c.28G>A, XM_011543793.2:c.28G>A, XM_011543793.1:c.28G>A, XM_017021853.2:c.28G>A, XM_017021853.1:c.28G>A, NM_001277304.1:c.28G>A, NM_001277304.2:c.28G>A, NM_001277303.1:c.28G>A, NR_102390.1:n.61G>A, XP_006720417.1:p.Ala10Thr, XP_011542095.1:p.Ala10Thr, XP_016877342.1:p.Ala10Thr, NP_001264232.1:p.Ala10Thr

Select item 147528666210.

rs1475286662 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:20845960 (GRCh38)
15:21051289 (GRCh37)
Canonical SPDI:: NC_000015.10:20845959:C:T
Gene:: POTEB2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,missense_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.001/3 (KOREAN)
HGVS:: NC_000015.10:g.20845960C>T, NC_000015.9:g.21051289C>T, NW_021160017.1:g.1090794C>T, XM_006720354.4:c.*56G>A, XM_006720354.3:c.*56G>A, XM_006720354.2:c.*56G>A, XM_017021853.2:c.*35G>A, XM_017021853.1:c.*35G>A, NM_001277304.1:c.1171G>A, NM_001277304.2:c.1171G>A, NM_001277303.1:c.1171G>A, NR_102390.1:n.995G>A, NP_001264232.1:p.Gly391Arg

Select item 147469733211.

rs1474697332 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 15:20866150 (GRCh38)
15:21071479 (GRCh37)
Canonical SPDI:: NC_000015.10:20866149:G:C
Gene:: POTEB2 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
HGVS:: NC_000015.10:g.20866150G>C, NC_000015.9:g.21071479G>C, NW_021160017.1:g.1110972G>C, XM_006720354.4:c.132C>G, XM_006720354.3:c.132C>G, XM_006720354.2:c.132C>G, XM_006720354.1:c.132C>G, XM_011543793.3:c.132C>G, XM_011543793.2:c.132C>G, XM_011543793.1:c.132C>G, XM_017021853.2:c.132C>G, XM_017021853.1:c.132C>G, NM_001277304.1:c.132C>G, NM_001277304.2:c.132C>G, NM_001277303.1:c.132C>G, NR_102390.1:n.165C>G

Select item 147430759812.

rs1474307598 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:20865913 (GRCh38)
15:21071242 (GRCh37)
Canonical SPDI:: NC_000015.10:20865912:C:T
Gene:: POTEB2 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000015.10:g.20865913C>T, NC_000015.9:g.21071242C>T, NW_021160017.1:g.1110735C>T, XM_006720354.4:c.369G>A, XM_006720354.3:c.369G>A, XM_006720354.2:c.369G>A, XM_006720354.1:c.369G>A, XM_011543793.3:c.369G>A, XM_011543793.2:c.369G>A, XM_011543793.1:c.369G>A, XM_017021853.2:c.369G>A, XM_017021853.1:c.369G>A, NM_001277304.1:c.369G>A, NM_001277304.2:c.369G>A, NM_001277303.1:c.369G>A, NR_102390.1:n.402G>A, XP_006720417.1:p.Met123Ile, XP_011542095.1:p.Met123Ile, XP_016877342.1:p.Met123Ile, NP_001264232.1:p.Met123Ile

Select item 147390319313.

rs1473903193 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:20865991 (GRCh38)
15:21071320 (GRCh37)
Canonical SPDI:: NC_000015.10:20865990:G:A
Gene:: POTEB2 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
HGVS:: NC_000015.10:g.20865991G>A, NC_000015.9:g.21071320G>A, NW_021160017.1:g.1110813G>A, XM_006720354.4:c.291C>T, XM_006720354.3:c.291C>T, XM_006720354.2:c.291C>T, XM_006720354.1:c.291C>T, XM_011543793.3:c.291C>T, XM_011543793.2:c.291C>T, XM_011543793.1:c.291C>T, XM_017021853.2:c.291C>T, XM_017021853.1:c.291C>T, NM_001277304.1:c.291C>T, NM_001277304.2:c.291C>T, NM_001277303.1:c.291C>T, NR_102390.1:n.324C>T

Select item 146818859914.

rs1468188599 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 15:20866207 (GRCh38)
15:21071536 (GRCh37)
Canonical SPDI:: NC_000015.10:20866206:G:T
Gene:: POTEB2 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.00002/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.20866207G>T, NC_000015.9:g.21071536G>T, NW_021160017.1:g.1111029G>T, XM_006720354.4:c.75C>A, XM_006720354.3:c.75C>A, XM_006720354.2:c.75C>A, XM_006720354.1:c.75C>A, XM_011543793.3:c.75C>A, XM_011543793.2:c.75C>A, XM_011543793.1:c.75C>A, XM_017021853.2:c.75C>A, XM_017021853.1:c.75C>A, NM_001277304.1:c.75C>A, NM_001277304.2:c.75C>A, NM_001277303.1:c.81-6C>A, not_yet_implemented, not_yet_implemented

Select item 146686363415.

rs1466863634 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 15:20866157 (GRCh38)
15:21071486 (GRCh37)
Canonical SPDI:: NC_000015.10:20866156:T:A,NC_000015.10:20866156:T:G
Gene:: POTEB2 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00008/1 (ALFA)
G=0.00002/1 (GnomAD_exomes)
G=0.00016/4 (TOMMO)
HGVS:: NC_000015.10:g.20866157T>A, NC_000015.10:g.20866157T>G, NC_000015.9:g.21071486T>A, NC_000015.9:g.21071486T>G, NW_021160017.1:g.1110979T>A, NW_021160017.1:g.1110979T>G, XM_006720354.4:c.125A>T, XM_006720354.4:c.125A>C, XM_006720354.3:c.125A>T, XM_006720354.3:c.125A>C, XM_006720354.2:c.125A>T, XM_006720354.2:c.125A>C, XM_006720354.1:c.125A>T, XM_006720354.1:c.125A>C, XM_011543793.3:c.125A>T, XM_011543793.3:c.125A>C, XM_011543793.2:c.125A>T, XM_011543793.2:c.125A>C, XM_011543793.1:c.125A>T, XM_011543793.1:c.125A>C, XM_017021853.2:c.125A>T, XM_017021853.2:c.125A>C, XM_017021853.1:c.125A>T, XM_017021853.1:c.125A>C, NM_001277304.1:c.125A>T, NM_001277304.1:c.125A>C, NM_001277304.2:c.125A>T, NM_001277304.2:c.125A>C, NM_001277303.1:c.125A>T, NM_001277303.1:c.125A>C, NR_102390.1:n.158A>T, NR_102390.1:n.158A>C, XP_006720417.1:p.Asn42Ile, XP_006720417.1:p.Asn42Thr, XP_011542095.1:p.Asn42Ile, XP_011542095.1:p.Asn42Thr, XP_016877342.1:p.Asn42Ile, XP_016877342.1:p.Asn42Thr, NP_001264232.1:p.Asn42Ile, NP_001264232.1:p.Asn42Thr

Select item 146275855816.

rs1462758558 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 15:20845847 (GRCh38)
15:21051176 (GRCh37)
Canonical SPDI:: NC_000015.10:20845846:A:T
Gene:: POTEB2 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,downstream_transcript_variant
HGVS:: NC_000015.10:g.20845847A>T, NC_000015.9:g.21051176A>T, NW_021160017.1:g.1090681A>T, NM_001277304.1:c.1284T>A, NM_001277304.2:c.1284T>A, NM_001277303.1:c.1284T>A, NR_102390.1:n.1108T>A, NP_001264232.1:p.Asn428Lys

Select item 146165131917.

rs1461651319 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 15:20845873 (GRCh38)
15:21051202 (GRCh37)
Canonical SPDI:: NC_000015.10:20845872:T:A
Gene:: POTEB2 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,downstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.20845873T>A, NC_000015.9:g.21051202T>A, NW_021160017.1:g.1090707T>A, NM_001277304.1:c.1258A>T, NM_001277304.2:c.1258A>T, NM_001277303.1:c.1258A>T, NR_102390.1:n.1082A>T, NP_001264232.1:p.Asn420Tyr

Select item 145840162618.

rs1458401626 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 15:20866127 (GRCh38)
15:21071456 (GRCh37)
Canonical SPDI:: NC_000015.10:20866126:G:T
Gene:: POTEB2 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency
MAF:: T=0.00004/2 (GnomAD_exomes)
HGVS:: NC_000015.10:g.20866127G>T, NC_000015.9:g.21071456G>T, NW_021160017.1:g.1110949G>T, XM_006720354.4:c.155C>A, XM_006720354.3:c.155C>A, XM_006720354.2:c.155C>A, XM_006720354.1:c.155C>A, XM_011543793.3:c.155C>A, XM_011543793.2:c.155C>A, XM_011543793.1:c.155C>A, XM_017021853.2:c.155C>A, XM_017021853.1:c.155C>A, NM_001277304.1:c.155C>A, NM_001277304.2:c.155C>A, NM_001277303.1:c.155C>A, NR_102390.1:n.188C>A, XP_006720417.1:p.Ser52Tyr, XP_011542095.1:p.Ser52Tyr, XP_016877342.1:p.Ser52Tyr, NP_001264232.1:p.Ser52Tyr

Select item 145805902619.

rs1458059026 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:20866261 (GRCh38)
15:21071590 (GRCh37)
Canonical SPDI:: NC_000015.10:20866260:T:C
Gene:: POTEB2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
HGVS:: NC_000015.10:g.20866261T>C, NC_000015.9:g.21071590T>C, NW_021160017.1:g.1111194T>C, XM_006720354.4:c.21A>G, XM_006720354.3:c.21A>G, XM_006720354.2:c.21A>G, XM_006720354.1:c.21A>G, XM_011543793.3:c.21A>G, XM_011543793.2:c.21A>G, XM_011543793.1:c.21A>G, XM_017021853.2:c.21A>G, XM_017021853.1:c.21A>G, NM_001277304.1:c.21A>G, NM_001277304.2:c.21A>G, NM_001277303.1:c.21A>G, NR_102390.1:n.54A>G

Select item 145416261120.

rs1454162611 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:20866134 (GRCh38)
15:21071463 (GRCh37)
Canonical SPDI:: NC_000015.10:20866133:C:T
Gene:: POTEB2 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000015.10:g.20866134C>T, NC_000015.9:g.21071463C>T, NW_021160017.1:g.1110956C>T, XM_006720354.4:c.148G>A, XM_006720354.3:c.148G>A, XM_006720354.2:c.148G>A, XM_006720354.1:c.148G>A, XM_011543793.3:c.148G>A, XM_011543793.2:c.148G>A, XM_011543793.1:c.148G>A, XM_017021853.2:c.148G>A, XM_017021853.1:c.148G>A, NM_001277304.1:c.148G>A, NM_001277304.2:c.148G>A, NM_001277303.1:c.148G>A, NR_102390.1:n.181G>A, XP_006720417.1:p.Asp50Asn, XP_011542095.1:p.Asp50Asn, XP_016877342.1:p.Asp50Asn, NP_001264232.1:p.Asp50Asn

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