SNP Links for Nucleotide (Select 548923947) - SNP

Select item 14907154991.

rs1490715499 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:6395405 (GRCh38)
11:6416635 (GRCh37)
Canonical SPDI:: NC_000011.10:6395404:G:A
Gene:: APBB1 (Varview), SMPD1 (Varview)
Functional Consequence:: downstream_transcript_variant,3_prime_UTR_variant,intron_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.6395405G>A, NC_000011.9:g.6416635G>A, NG_029615.1:g.29010C>T, NM_001164.5:c.*129C>T, NM_001164.4:c.*129C>T, NM_001164.3:c.*129C>T, NM_145689.3:c.*129C>T, NM_145689.2:c.*129C>T, NM_145689.1:c.*129C>T, NM_001257319.3:c.*129C>T, NM_001257319.2:c.*129C>T, NM_001257319.1:c.*129C>T, NM_001257323.3:c.*129C>T, NM_001257323.2:c.*129C>T, NM_001257323.1:c.*129C>T, NM_001257325.3:c.*129C>T, NM_001257325.2:c.*129C>T, NM_001257325.1:c.*129C>T, NM_001257321.2:c.*129C>T, NM_001257321.1:c.*129C>T, NM_001257326.2:c.*129C>T, NM_001257326.1:c.*129C>T, NM_001257320.2:c.*129C>T, NM_001257320.1:c.*129C>T, NG_011780.1:g.9981G>A

Select item 14900185332.

rs1490018533 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:6405210 (GRCh38)
11:6426440 (GRCh37)
Canonical SPDI:: NC_000011.10:6405209:C:T
Gene:: APBB1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.6405210C>T, NC_000011.9:g.6426440C>T, NG_029615.1:g.19205G>A, NM_001257321.2:c.-174G>A, NM_001257321.1:c.-174G>A, NM_001257326.2:c.-134G>A, NM_001257326.1:c.-134G>A

Select item 14868600273.

rs1486860027 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:6401388 (GRCh38)
11:6422618 (GRCh37)
Canonical SPDI:: NC_000011.10:6401387:T:C
Gene:: APBB1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_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_000011.10:g.6401388T>C, NC_000011.9:g.6422618T>C, NG_029615.1:g.23027A>G, NM_001164.5:c.1545A>G, NM_001164.4:c.1545A>G, NM_001164.3:c.1545A>G, NM_145689.3:c.1539A>G, NM_145689.2:c.1539A>G, NM_145689.1:c.1539A>G, NM_001257319.3:c.885A>G, NM_001257319.2:c.885A>G, NM_001257319.1:c.885A>G, NM_001257323.3:c.879A>G, NM_001257323.2:c.879A>G, NM_001257323.1:c.879A>G, NM_001257325.3:c.840A>G, NM_001257325.2:c.840A>G, NM_001257325.1:c.840A>G, NR_047512.2:n.1686A>G, NR_047512.1:n.1677A>G, NM_001257321.2:c.768A>G, NM_001257321.1:c.768A>G, NM_001257326.2:c.768A>G, NM_001257326.1:c.768A>G, NM_001257320.2:c.768A>G, NM_001257320.1:c.768A>G, NM_001257322.1:c.*117A>G, NM_001257324.1:c.*117A>G

Select item 14839560344.

rs1483956034 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:6403323 (GRCh38)
11:6424553 (GRCh37)
Canonical SPDI:: NC_000011.10:6403322:G:A
Gene:: APBB1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000047/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.6403323G>A, NC_000011.9:g.6424553G>A, NG_029615.1:g.21092C>T, NM_001164.5:c.1036C>T, NM_001164.4:c.1036C>T, NM_001164.3:c.1036C>T, NM_145689.3:c.1036C>T, NM_145689.2:c.1036C>T, NM_145689.1:c.1036C>T, NM_001257319.3:c.376C>T, NM_001257319.2:c.376C>T, NM_001257319.1:c.376C>T, NM_001257323.3:c.376C>T, NM_001257323.2:c.376C>T, NM_001257323.1:c.376C>T, NM_001257325.3:c.331C>T, NM_001257325.2:c.331C>T, NM_001257325.1:c.331C>T, NR_047512.2:n.1177C>T, NR_047512.1:n.1168C>T, NM_001257321.2:c.259C>T, NM_001257321.1:c.259C>T, NM_001257326.2:c.259C>T, NM_001257326.1:c.259C>T, NM_001257320.2:c.259C>T, NM_001257320.1:c.259C>T, NM_001257322.1:c.376C>T, NM_001257324.1:c.259C>T, NP_001155.1:p.Leu346Phe, NP_663722.1:p.Leu346Phe, NP_001244248.1:p.Leu126Phe, NP_001244252.1:p.Leu126Phe, NP_001244254.1:p.Leu111Phe, NP_001244250.1:p.Leu87Phe, NP_001244255.1:p.Leu87Phe, NP_001244249.1:p.Leu87Phe

Select item 14822604255.

rs1482260425 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:6395666 (GRCh38)
11:6416896 (GRCh37)
Canonical SPDI:: NC_000011.10:6395665:C:T
Gene:: APBB1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
HGVS:: NC_000011.10:g.6395666C>T, NC_000011.9:g.6416896C>T, NG_029615.1:g.28749G>A, NM_001164.5:c.2001G>A, NM_001164.4:c.2001G>A, NM_001164.3:c.2001G>A, NM_145689.3:c.1995G>A, NM_145689.2:c.1995G>A, NM_145689.1:c.1995G>A, NM_001257319.3:c.1341G>A, NM_001257319.2:c.1341G>A, NM_001257319.1:c.1341G>A, NM_001257323.3:c.1335G>A, NM_001257323.2:c.1335G>A, NM_001257323.1:c.1335G>A, NM_001257325.3:c.1296G>A, NM_001257325.2:c.1296G>A, NM_001257325.1:c.1296G>A, NM_001257321.2:c.1224G>A, NM_001257321.1:c.1224G>A, NM_001257326.2:c.1224G>A, NM_001257326.1:c.1224G>A, NM_001257320.2:c.1224G>A, NM_001257320.1:c.1224G>A, NG_011780.1:g.10242C>T

Select item 14770862896.

rs1477086289 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:6396187 (GRCh38)
11:6417417 (GRCh37)
Canonical SPDI:: NC_000011.10:6396186:C:T
Gene:: APBB1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000094/2 (ALFA)
T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.6396187C>T, NC_000011.9:g.6417417C>T, NG_029615.1:g.28228G>A, NM_001164.5:c.1701G>A, NM_001164.4:c.1701G>A, NM_001164.3:c.1701G>A, NM_145689.3:c.1695G>A, NM_145689.2:c.1695G>A, NM_145689.1:c.1695G>A, NM_001257319.3:c.1041G>A, NM_001257319.2:c.1041G>A, NM_001257319.1:c.1041G>A, NM_001257323.3:c.1035G>A, NM_001257323.2:c.1035G>A, NM_001257323.1:c.1035G>A, NM_001257325.3:c.996G>A, NM_001257325.2:c.996G>A, NM_001257325.1:c.996G>A, NR_047512.2:n.1842G>A, NR_047512.1:n.1833G>A, NM_001257321.2:c.924G>A, NM_001257321.1:c.924G>A, NM_001257326.2:c.924G>A, NM_001257326.1:c.924G>A, NM_001257320.2:c.924G>A, NM_001257320.1:c.924G>A, NG_011780.1:g.10763C>T

Select item 14760839247.

rs1476083924 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:6395675 (GRCh38)
11:6416905 (GRCh37)
Canonical SPDI:: NC_000011.10:6395674:G:A
Gene:: APBB1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000013/3 (GnomAD_exomes)
A=0.000019/5 (TOPMED)
A=0.000156/1 (1000Genomes)
HGVS:: NC_000011.10:g.6395675G>A, NC_000011.9:g.6416905G>A, NG_029615.1:g.28740C>T, NM_001164.5:c.1992C>T, NM_001164.4:c.1992C>T, NM_001164.3:c.1992C>T, NM_145689.3:c.1986C>T, NM_145689.2:c.1986C>T, NM_145689.1:c.1986C>T, NM_001257319.3:c.1332C>T, NM_001257319.2:c.1332C>T, NM_001257319.1:c.1332C>T, NM_001257323.3:c.1326C>T, NM_001257323.2:c.1326C>T, NM_001257323.1:c.1326C>T, NM_001257325.3:c.1287C>T, NM_001257325.2:c.1287C>T, NM_001257325.1:c.1287C>T, NM_001257321.2:c.1215C>T, NM_001257321.1:c.1215C>T, NM_001257326.2:c.1215C>T, NM_001257326.1:c.1215C>T, NM_001257320.2:c.1215C>T, NM_001257320.1:c.1215C>T, NG_011780.1:g.10251G>A

Select item 14759984168.

rs1475998416 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 11:6395334 (GRCh38)
11:6416564 (GRCh37)
Canonical SPDI:: NC_000011.10:6395333:T:A
Gene:: APBB1 (Varview), SMPD1 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.6395334T>A, NC_000011.9:g.6416564T>A, NG_029615.1:g.29081A>T, NM_001164.5:c.*200A>T, NM_001164.4:c.*200A>T, NM_001164.3:c.*200A>T, NM_145689.3:c.*200A>T, NM_145689.2:c.*200A>T, NM_145689.1:c.*200A>T, NM_001257319.3:c.*200A>T, NM_001257319.2:c.*200A>T, NM_001257319.1:c.*200A>T, NM_001257323.3:c.*200A>T, NM_001257323.2:c.*200A>T, NM_001257323.1:c.*200A>T, NM_001257325.3:c.*200A>T, NM_001257325.2:c.*200A>T, NM_001257325.1:c.*200A>T, NM_001257321.2:c.*200A>T, NM_001257321.1:c.*200A>T, NM_001257326.2:c.*200A>T, NM_001257326.1:c.*200A>T, NM_001257320.2:c.*200A>T, NM_001257320.1:c.*200A>T, NG_011780.1:g.9910T>A

Select item 14740807079.

rs1474080707 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:6403520 (GRCh38)
11:6424750 (GRCh37)
Canonical SPDI:: NC_000011.10:6403519:C:G
Gene:: APBB1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.6403520C>G, NC_000011.9:g.6424750C>G, NG_029615.1:g.20895G>C, NM_001164.5:c.922G>C, NM_001164.4:c.922G>C, NM_001164.3:c.922G>C, NM_145689.3:c.922G>C, NM_145689.2:c.922G>C, NM_145689.1:c.922G>C, NM_001257319.3:c.262G>C, NM_001257319.2:c.262G>C, NM_001257319.1:c.262G>C, NM_001257323.3:c.262G>C, NM_001257323.2:c.262G>C, NM_001257323.1:c.262G>C, NM_001257325.3:c.217G>C, NM_001257325.2:c.217G>C, NM_001257325.1:c.217G>C, NR_047512.2:n.1063G>C, NR_047512.1:n.1054G>C, NM_001257321.2:c.145G>C, NM_001257321.1:c.145G>C, NM_001257326.2:c.145G>C, NM_001257326.1:c.145G>C, NM_001257320.2:c.145G>C, NM_001257320.1:c.145G>C, NM_001257322.1:c.262G>C, NM_001257324.1:c.145G>C, NP_001155.1:p.Gly308Arg, NP_663722.1:p.Gly308Arg, NP_001244248.1:p.Gly88Arg, NP_001244252.1:p.Gly88Arg, NP_001244254.1:p.Gly73Arg, NP_001244250.1:p.Gly49Arg, NP_001244255.1:p.Gly49Arg, NP_001244249.1:p.Gly49Arg

Select item 147191261910.

rs1471912619 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:6395212 (GRCh38)
11:6416442 (GRCh37)
Canonical SPDI:: NC_000011.10:6395211:T:C
Gene:: APBB1 (Varview), SMPD1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,downstream_transcript_variant,500B_downstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.6395212T>C, NC_000011.9:g.6416442T>C, NG_029615.1:g.29203A>G, NM_001164.5:c.*322A>G, NM_001164.4:c.*322A>G, NM_001164.3:c.*322A>G, NM_145689.3:c.*322A>G, NM_145689.2:c.*322A>G, NM_145689.1:c.*322A>G, NM_001257319.3:c.*322A>G, NM_001257319.2:c.*322A>G, NM_001257319.1:c.*322A>G, NM_001257323.3:c.*322A>G, NM_001257323.2:c.*322A>G, NM_001257323.1:c.*322A>G, NM_001257325.3:c.*322A>G, NM_001257325.2:c.*322A>G, NM_001257325.1:c.*322A>G, NR_047512.2:n.2174A>G, NR_047512.1:n.2165A>G, NM_001257321.2:c.*322A>G, NM_001257321.1:c.*322A>G, NM_001257326.2:c.*322A>G, NM_001257326.1:c.*322A>G, NM_001257320.2:c.*322A>G, NM_001257320.1:c.*322A>G, NG_011780.1:g.9788T>C

Select item 147122061711.

rs1471220617 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 11:6395593 (GRCh38)
11:6416823 (GRCh37)
Canonical SPDI:: NC_000011.10:6395592:C:A,NC_000011.10:6395592:C:T
Gene:: APBB1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000011.10:g.6395593C>A, NC_000011.10:g.6395593C>T, NC_000011.9:g.6416823C>A, NC_000011.9:g.6416823C>T, NG_029615.1:g.28822G>T, NG_029615.1:g.28822G>A, NM_001164.5:c.2074G>T, NM_001164.5:c.2074G>A, NM_001164.4:c.2074G>T, NM_001164.4:c.2074G>A, NM_001164.3:c.2074G>T, NM_001164.3:c.2074G>A, NM_145689.3:c.2068G>T, NM_145689.3:c.2068G>A, NM_145689.2:c.2068G>T, NM_145689.2:c.2068G>A, NM_145689.1:c.2068G>T, NM_145689.1:c.2068G>A, NM_001257319.3:c.1414G>T, NM_001257319.3:c.1414G>A, NM_001257319.2:c.1414G>T, NM_001257319.2:c.1414G>A, NM_001257319.1:c.1414G>T, NM_001257319.1:c.1414G>A, NM_001257323.3:c.1408G>T, NM_001257323.3:c.1408G>A, NM_001257323.2:c.1408G>T, NM_001257323.2:c.1408G>A, NM_001257323.1:c.1408G>T, NM_001257323.1:c.1408G>A, NM_001257325.3:c.1369G>T, NM_001257325.3:c.1369G>A, NM_001257325.2:c.1369G>T, NM_001257325.2:c.1369G>A, NM_001257325.1:c.1369G>T, NM_001257325.1:c.1369G>A, NM_001257321.2:c.1297G>T, NM_001257321.2:c.1297G>A, NM_001257321.1:c.1297G>T, NM_001257321.1:c.1297G>A, NM_001257326.2:c.1297G>T, NM_001257326.2:c.1297G>A, NM_001257326.1:c.1297G>T, NM_001257326.1:c.1297G>A, NM_001257320.2:c.1297G>T, NM_001257320.2:c.1297G>A, NM_001257320.1:c.1297G>T, NM_001257320.1:c.1297G>A, NG_011780.1:g.10169C>A, NG_011780.1:g.10169C>T, NP_001155.1:p.Gly692Cys, NP_001155.1:p.Gly692Ser, NP_663722.1:p.Gly690Cys, NP_663722.1:p.Gly690Ser, NP_001244248.1:p.Gly472Cys, NP_001244248.1:p.Gly472Ser, NP_001244252.1:p.Gly470Cys, NP_001244252.1:p.Gly470Ser, NP_001244254.1:p.Gly457Cys, NP_001244254.1:p.Gly457Ser, NP_001244250.1:p.Gly433Cys, NP_001244250.1:p.Gly433Ser, NP_001244255.1:p.Gly433Cys, NP_001244255.1:p.Gly433Ser, NP_001244249.1:p.Gly433Cys, NP_001244249.1:p.Gly433Ser

Select item 147065897512.

rs1470658975 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:6405136 (GRCh38)
11:6426366 (GRCh37)
Canonical SPDI:: NC_000011.10:6405135:A:C
Gene:: APBB1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000026/7 (TOPMED)
C=0.00005/7 (GnomAD)
HGVS:: NC_000011.10:g.6405136A>C, NC_000011.9:g.6426366A>C, NG_029615.1:g.19279T>G, NM_001257321.2:c.-100T>G, NM_001257321.1:c.-100T>G, NM_001257326.2:c.-60T>G, NM_001257326.1:c.-60T>G

Select item 146376219913.

rs1463762199 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:6405278 (GRCh38)
11:6426508 (GRCh37)
Canonical SPDI:: NC_000011.10:6405277:T:C
Gene:: APBB1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000011.10:g.6405278T>C, NC_000011.9:g.6426508T>C, NG_029615.1:g.19137A>G, NM_001257321.2:c.-242A>G, NM_001257321.1:c.-242A>G, NM_001257326.2:c.-202A>G, NM_001257326.1:c.-202A>G, NG_063710.1:g.60T>C

Select item 146081777014.

rs1460817770 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:6402159 (GRCh38)
11:6423389 (GRCh37)
Canonical SPDI:: NC_000011.10:6402158:C:T
Gene:: APBB1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.6402159C>T, NC_000011.9:g.6423389C>T, NG_029615.1:g.22256G>A, NM_001164.5:c.1305G>A, NM_001164.4:c.1305G>A, NM_001164.3:c.1305G>A, NM_145689.3:c.1305G>A, NM_145689.2:c.1305G>A, NM_145689.1:c.1305G>A, NM_001257319.3:c.645G>A, NM_001257319.2:c.645G>A, NM_001257319.1:c.645G>A, NM_001257323.3:c.645G>A, NM_001257323.2:c.645G>A, NM_001257323.1:c.645G>A, NM_001257325.3:c.600G>A, NM_001257325.2:c.600G>A, NM_001257325.1:c.600G>A, NR_047512.2:n.1446G>A, NR_047512.1:n.1437G>A, NM_001257321.2:c.528G>A, NM_001257321.1:c.528G>A, NM_001257326.2:c.528G>A, NM_001257326.1:c.528G>A, NM_001257320.2:c.528G>A, NM_001257320.1:c.528G>A, NM_001257322.1:c.645G>A, NM_001257324.1:c.528G>A

Select item 146030044415.

rs1460300444 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 11:6396166 (GRCh38)
11:6417396 (GRCh37)
Canonical SPDI:: NC_000011.10:6396165:G:A,NC_000011.10:6396165:G:T
Gene:: APBB1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000011.10:g.6396166G>A, NC_000011.10:g.6396166G>T, NC_000011.9:g.6417396G>A, NC_000011.9:g.6417396G>T, NG_029615.1:g.28249C>T, NG_029615.1:g.28249C>A, NM_001164.5:c.1722C>T, NM_001164.5:c.1722C>A, NM_001164.4:c.1722C>T, NM_001164.4:c.1722C>A, NM_001164.3:c.1722C>T, NM_001164.3:c.1722C>A, NM_145689.3:c.1716C>T, NM_145689.3:c.1716C>A, NM_145689.2:c.1716C>T, NM_145689.2:c.1716C>A, NM_145689.1:c.1716C>T, NM_145689.1:c.1716C>A, NM_001257319.3:c.1062C>T, NM_001257319.3:c.1062C>A, NM_001257319.2:c.1062C>T, NM_001257319.2:c.1062C>A, NM_001257319.1:c.1062C>T, NM_001257319.1:c.1062C>A, NM_001257323.3:c.1056C>T, NM_001257323.3:c.1056C>A, NM_001257323.2:c.1056C>T, NM_001257323.2:c.1056C>A, NM_001257323.1:c.1056C>T, NM_001257323.1:c.1056C>A, NM_001257325.3:c.1017C>T, NM_001257325.3:c.1017C>A, NM_001257325.2:c.1017C>T, NM_001257325.2:c.1017C>A, NM_001257325.1:c.1017C>T, NM_001257325.1:c.1017C>A, NR_047512.2:n.1863C>T, NR_047512.2:n.1863C>A, NR_047512.1:n.1854C>T, NR_047512.1:n.1854C>A, NM_001257321.2:c.945C>T, NM_001257321.2:c.945C>A, NM_001257321.1:c.945C>T, NM_001257321.1:c.945C>A, NM_001257326.2:c.945C>T, NM_001257326.2:c.945C>A, NM_001257326.1:c.945C>T, NM_001257326.1:c.945C>A, NM_001257320.2:c.945C>T, NM_001257320.2:c.945C>A, NM_001257320.1:c.945C>T, NM_001257320.1:c.945C>A, NG_011780.1:g.10742G>A, NG_011780.1:g.10742G>T, NP_001155.1:p.Ser574Arg, NP_663722.1:p.Ser572Arg, NP_001244248.1:p.Ser354Arg, NP_001244252.1:p.Ser352Arg, NP_001244254.1:p.Ser339Arg, NP_001244250.1:p.Ser315Arg, NP_001244255.1:p.Ser315Arg, NP_001244249.1:p.Ser315Arg

Select item 145893977516.

rs1458939775 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:6402098 (GRCh38)
11:6423328 (GRCh37)
Canonical SPDI:: NC_000011.10:6402097:C:T
Gene:: APBB1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.6402098C>T, NC_000011.9:g.6423328C>T, NG_029615.1:g.22317G>A, NM_001164.5:c.1366G>A, NM_001164.4:c.1366G>A, NM_001164.3:c.1366G>A, NM_145689.3:c.1366G>A, NM_145689.2:c.1366G>A, NM_145689.1:c.1366G>A, NM_001257319.3:c.706G>A, NM_001257319.2:c.706G>A, NM_001257319.1:c.706G>A, NM_001257323.3:c.706G>A, NM_001257323.2:c.706G>A, NM_001257323.1:c.706G>A, NM_001257325.3:c.661G>A, NM_001257325.2:c.661G>A, NM_001257325.1:c.661G>A, NR_047512.2:n.1507G>A, NR_047512.1:n.1498G>A, NM_001257321.2:c.589G>A, NM_001257321.1:c.589G>A, NM_001257326.2:c.589G>A, NM_001257326.1:c.589G>A, NM_001257320.2:c.589G>A, NM_001257320.1:c.589G>A, NM_001257322.1:c.706G>A, NM_001257324.1:c.589G>A, NP_001155.1:p.Gly456Arg, NP_663722.1:p.Gly456Arg, NP_001244248.1:p.Gly236Arg, NP_001244252.1:p.Gly236Arg, NP_001244254.1:p.Gly221Arg, NP_001244250.1:p.Gly197Arg, NP_001244255.1:p.Gly197Arg, NP_001244249.1:p.Gly197Arg

Select item 145828663717.

rs1458286637 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:6395616 (GRCh38)
11:6416846 (GRCh37)
Canonical SPDI:: NC_000011.10:6395615:C:T
Gene:: APBB1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000013/3 (GnomAD_exomes)
HGVS:: NC_000011.10:g.6395616C>T, NC_000011.9:g.6416846C>T, NG_029615.1:g.28799G>A, NM_001164.5:c.2051G>A, NM_001164.4:c.2051G>A, NM_001164.3:c.2051G>A, NM_145689.3:c.2045G>A, NM_145689.2:c.2045G>A, NM_145689.1:c.2045G>A, NM_001257319.3:c.1391G>A, NM_001257319.2:c.1391G>A, NM_001257319.1:c.1391G>A, NM_001257323.3:c.1385G>A, NM_001257323.2:c.1385G>A, NM_001257323.1:c.1385G>A, NM_001257325.3:c.1346G>A, NM_001257325.2:c.1346G>A, NM_001257325.1:c.1346G>A, NM_001257321.2:c.1274G>A, NM_001257321.1:c.1274G>A, NM_001257326.2:c.1274G>A, NM_001257326.1:c.1274G>A, NM_001257320.2:c.1274G>A, NM_001257320.1:c.1274G>A, NG_011780.1:g.10192C>T, NP_001155.1:p.Arg684His, NP_663722.1:p.Arg682His, NP_001244248.1:p.Arg464His, NP_001244252.1:p.Arg462His, NP_001244254.1:p.Arg449His, NP_001244250.1:p.Arg425His, NP_001244255.1:p.Arg425His, NP_001244249.1:p.Arg425His

Select item 145728168618.

rs1457281686 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:6403511 (GRCh38)
11:6424741 (GRCh37)
Canonical SPDI:: NC_000011.10:6403510:A:C
Gene:: APBB1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.6403511A>C, NC_000011.9:g.6424741A>C, NG_029615.1:g.20904T>G, NM_001164.5:c.931T>G, NM_001164.4:c.931T>G, NM_001164.3:c.931T>G, NM_145689.3:c.931T>G, NM_145689.2:c.931T>G, NM_145689.1:c.931T>G, NM_001257319.3:c.271T>G, NM_001257319.2:c.271T>G, NM_001257319.1:c.271T>G, NM_001257323.3:c.271T>G, NM_001257323.2:c.271T>G, NM_001257323.1:c.271T>G, NM_001257325.3:c.226T>G, NM_001257325.2:c.226T>G, NM_001257325.1:c.226T>G, NR_047512.2:n.1072T>G, NR_047512.1:n.1063T>G, NM_001257321.2:c.154T>G, NM_001257321.1:c.154T>G, NM_001257326.2:c.154T>G, NM_001257326.1:c.154T>G, NM_001257320.2:c.154T>G, NM_001257320.1:c.154T>G, NM_001257322.1:c.271T>G, NM_001257324.1:c.154T>G, NP_001155.1:p.Phe311Val, NP_663722.1:p.Phe311Val, NP_001244248.1:p.Phe91Val, NP_001244252.1:p.Phe91Val, NP_001244254.1:p.Phe76Val, NP_001244250.1:p.Phe52Val, NP_001244255.1:p.Phe52Val, NP_001244249.1:p.Phe52Val

Select item 145711080719.

rs1457110807 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:6403785 (GRCh38)
11:6425015 (GRCh37)
Canonical SPDI:: NC_000011.10:6403784:G:A
Gene:: APBB1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.6403785G>A, NC_000011.9:g.6425015G>A, NG_029615.1:g.20630C>T, NM_001164.5:c.759C>T, NM_001164.4:c.759C>T, NM_001164.3:c.759C>T, NM_145689.3:c.759C>T, NM_145689.2:c.759C>T, NM_145689.1:c.759C>T, NM_001257319.3:c.99C>T, NM_001257319.2:c.99C>T, NM_001257319.1:c.99C>T, NM_001257323.3:c.99C>T, NM_001257323.2:c.99C>T, NM_001257323.1:c.99C>T, NM_001257325.3:c.54C>T, NM_001257325.2:c.54C>T, NM_001257325.1:c.54C>T, NR_047512.2:n.900C>T, NR_047512.1:n.891C>T, NM_001257321.2:c.-19C>T, NM_001257321.1:c.-19C>T, NM_001257326.2:c.-19C>T, NM_001257326.1:c.-19C>T, NM_001257320.2:c.-19C>T, NM_001257320.1:c.-19C>T, NM_001257322.1:c.99C>T, NM_001257324.1:c.-19C>T

Select item 145333347820.

rs1453333478 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:6395556 (GRCh38)
11:6416786 (GRCh37)
Canonical SPDI:: NC_000011.10:6395555:C:T
Gene:: APBB1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000094/1 (ALFA)
T=0./0 (KOREAN)
T=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.6395556C>T, NC_000011.9:g.6416786C>T, NG_029615.1:g.28859G>A, NM_001164.5:c.2111G>A, NM_001164.4:c.2111G>A, NM_001164.3:c.2111G>A, NM_145689.3:c.2105G>A, NM_145689.2:c.2105G>A, NM_145689.1:c.2105G>A, NM_001257319.3:c.1451G>A, NM_001257319.2:c.1451G>A, NM_001257319.1:c.1451G>A, NM_001257323.3:c.1445G>A, NM_001257323.2:c.1445G>A, NM_001257323.1:c.1445G>A, NM_001257325.3:c.1406G>A, NM_001257325.2:c.1406G>A, NM_001257325.1:c.1406G>A, NM_001257321.2:c.1334G>A, NM_001257321.1:c.1334G>A, NM_001257326.2:c.1334G>A, NM_001257326.1:c.1334G>A, NM_001257320.2:c.1334G>A, NM_001257320.1:c.1334G>A, NG_011780.1:g.10132C>T, NP_001155.1:p.Arg704Gln, NP_663722.1:p.Arg702Gln, NP_001244248.1:p.Arg484Gln, NP_001244252.1:p.Arg482Gln, NP_001244254.1:p.Arg469Gln, NP_001244250.1:p.Arg445Gln, NP_001244255.1:p.Arg445Gln, NP_001244249.1:p.Arg445Gln

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