SNP Links for Nucleotide (Select 677283302) - SNP

Select item 14909071461.

rs1490907146 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 8:102827965 (GRCh38)
8:103840193 (GRCh37)
Canonical SPDI:: NC_000008.11:102827964:G:C
Gene:: AZIN1 (Varview)
Functional Consequence:: 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_000008.11:g.102827965G>C, NC_000008.10:g.103840193G>C, NM_015878.5:c.*602C>G, NM_015878.4:c.*602C>G, NM_148174.4:c.*602C>G, NM_148174.3:c.*602C>G, NM_148174.2:c.*602C>G, NM_001301668.3:c.*609C>G, NM_001301668.2:c.*609C>G, NM_001301668.1:c.*609C>G, NM_001363014.1:c.*602C>G, XM_047421860.1:c.*602C>G, XM_047421862.1:c.*602C>G, NM_001363083.1:c.*602C>G, XM_047421861.1:c.*602C>G, NM_001363024.1:c.*602C>G, NM_001363012.1:c.*602C>G, NM_001363013.1:c.*602C>G, NM_001363011.1:c.*602C>G, NM_001363010.1:c.*602C>G

Select item 14895355902.

rs1489535590 [Homo sapiens]

Variant type:: SNV:
Alleles:: T>C
Chromosome:: no mapping
Canonical SPDI:

Select item 14878722103.

rs1487872210 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:102858024 (GRCh38)
8:103870252 (GRCh37)
Canonical SPDI:: NC_000008.11:102858023:G:A
Gene:: AZIN1 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.102858024G>A, NC_000008.10:g.103870252G>A, NM_015878.5:c.-253C>T, NM_015878.4:c.-253C>T, NM_148174.4:c.-107C>T, NM_148174.3:c.-107C>T, NM_148174.2:c.-107C>T, NM_001301668.3:c.-107C>T, NM_001301668.2:c.-107C>T, NM_001301668.1:c.-107C>T, NM_001363014.1:c.-905C>T, XM_047421860.1:c.-286C>T, XM_047421862.1:c.-286C>T, NM_001363083.1:c.-274C>T, XM_047421861.1:c.-274C>T, NM_001363024.1:c.-265C>T, NM_001363012.1:c.-265C>T, NM_001363013.1:c.-759C>T, NM_001363011.1:c.-253C>T, NM_001363010.1:c.-107C>T

Select item 14875057104.

rs1487505710 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 8:102839802 (GRCh38)
8:103852030 (GRCh37)
Canonical SPDI:: NC_000008.11:102839801:C:A
Gene:: AZIN1 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.0007/6 (ALFA)
HGVS:: NC_000008.11:g.102839802C>A, NC_000008.10:g.103852030C>A, NM_015878.5:c.124G>T, NM_015878.4:c.124G>T, NM_148174.4:c.124G>T, NM_148174.3:c.124G>T, NM_148174.2:c.124G>T, NM_001301668.3:c.124G>T, NM_001301668.2:c.124G>T, NM_001301668.1:c.124G>T, NM_001363014.1:c.-529G>T, XM_047421860.1:c.124G>T, XM_047421862.1:c.124G>T, NM_001363083.1:c.124G>T, XM_047421861.1:c.124G>T, NM_001363024.1:c.124G>T, NM_001363012.1:c.124G>T, NM_001363013.1:c.-529G>T, NM_001363011.1:c.124G>T, NM_001363010.1:c.124G>T, NP_056962.2:p.Val42Leu, NP_680479.1:p.Val42Leu, NP_001288597.1:p.Val42Leu, XP_047277816.1:p.Val42Leu, XP_047277818.1:p.Val42Leu, NP_001350012.1:p.Val42Leu, XP_047277817.1:p.Val42Leu, NP_001349953.1:p.Val42Leu, NP_001349941.1:p.Val42Leu, NP_001349940.1:p.Val42Leu, NP_001349939.1:p.Val42Leu

Select item 14855816455.

rs1485581645 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:102827183 (GRCh38)
8:103839411 (GRCh37)
Canonical SPDI:: NC_000008.11:102827182:C:G
Gene:: AZIN1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000015/4 (TOPMED)
G=0.000425/7 (TOMMO)
G=0.000684/2 (KOREAN)
HGVS:: NC_000008.11:g.102827183C>G, NC_000008.10:g.103839411C>G, NM_015878.5:c.*1384G>C, NM_015878.4:c.*1384G>C, NM_148174.4:c.*1384G>C, NM_148174.3:c.*1384G>C, NM_148174.2:c.*1384G>C, NM_001301668.3:c.*1391G>C, NM_001301668.2:c.*1391G>C, NM_001301668.1:c.*1391G>C, NM_001363014.1:c.*1384G>C, XM_047421860.1:c.*1384G>C, XM_047421862.1:c.*1384G>C, NM_001363083.1:c.*1384G>C, XM_047421861.1:c.*1384G>C, NM_001363024.1:c.*1384G>C, NM_001363012.1:c.*1384G>C, NM_001363013.1:c.*1384G>C, NM_001363011.1:c.*1384G>C, NM_001363010.1:c.*1384G>C

Select item 14855201116.

rs1485520111 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:102826371 (GRCh38)
8:103838599 (GRCh37)
Canonical SPDI:: NC_000008.11:102826370:A:G
Gene:: AZIN1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0.000084/1 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.102826371A>G, NC_000008.10:g.103838599A>G, NM_015878.5:c.*2196T>C, NM_015878.4:c.*2196T>C, NM_148174.4:c.*2196T>C, NM_148174.3:c.*2196T>C, NM_148174.2:c.*2196T>C, NM_001301668.3:c.*2203T>C, NM_001301668.2:c.*2203T>C, NM_001301668.1:c.*2203T>C, NM_001363014.1:c.*2196T>C, XM_047421860.1:c.*2196T>C, XM_047421862.1:c.*2196T>C, NM_001363083.1:c.*2196T>C, XM_047421861.1:c.*2196T>C, NM_001363024.1:c.*2196T>C, NM_001363012.1:c.*2196T>C, NM_001363013.1:c.*2196T>C, NM_001363011.1:c.*2196T>C, NM_001363010.1:c.*2196T>C

Select item 14838368587.

rs1483836858 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:102826500 (GRCh38)
8:103838728 (GRCh37)
Canonical SPDI:: NC_000008.11:102826499:C:T
Gene:: AZIN1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.102826500C>T, NC_000008.10:g.103838728C>T, NM_015878.5:c.*2067G>A, NM_015878.4:c.*2067G>A, NM_148174.4:c.*2067G>A, NM_148174.3:c.*2067G>A, NM_148174.2:c.*2067G>A, NM_001301668.3:c.*2074G>A, NM_001301668.2:c.*2074G>A, NM_001301668.1:c.*2074G>A, NM_001363014.1:c.*2067G>A, XM_047421860.1:c.*2067G>A, XM_047421862.1:c.*2067G>A, NM_001363083.1:c.*2067G>A, XM_047421861.1:c.*2067G>A, NM_001363024.1:c.*2067G>A, NM_001363012.1:c.*2067G>A, NM_001363013.1:c.*2067G>A, NM_001363011.1:c.*2067G>A, NM_001363010.1:c.*2067G>A

Select item 14835065488.

rs1483506548 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 8:102826889 (GRCh38)
8:103839117 (GRCh37)
Canonical SPDI:: NC_000008.11:102826888:G:A,NC_000008.11:102826888:G:T
Gene:: AZIN1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.102826889G>A, NC_000008.11:g.102826889G>T, NC_000008.10:g.103839117G>A, NC_000008.10:g.103839117G>T, NM_015878.5:c.*1678C>T, NM_015878.5:c.*1678C>A, NM_015878.4:c.*1678C>T, NM_015878.4:c.*1678C>A, NM_148174.4:c.*1678C>T, NM_148174.4:c.*1678C>A, NM_148174.3:c.*1678C>T, NM_148174.3:c.*1678C>A, NM_148174.2:c.*1678C>T, NM_148174.2:c.*1678C>A, NM_001301668.3:c.*1685C>T, NM_001301668.3:c.*1685C>A, NM_001301668.2:c.*1685C>T, NM_001301668.2:c.*1685C>A, NM_001301668.1:c.*1685C>T, NM_001301668.1:c.*1685C>A, NM_001363014.1:c.*1678C>T, NM_001363014.1:c.*1678C>A, XM_047421860.1:c.*1678C>T, XM_047421860.1:c.*1678C>A, XM_047421862.1:c.*1678C>T, XM_047421862.1:c.*1678C>A, NM_001363083.1:c.*1678C>T, NM_001363083.1:c.*1678C>A, XM_047421861.1:c.*1678C>T, XM_047421861.1:c.*1678C>A, NM_001363024.1:c.*1678C>T, NM_001363024.1:c.*1678C>A, NM_001363012.1:c.*1678C>T, NM_001363012.1:c.*1678C>A, NM_001363013.1:c.*1678C>T, NM_001363013.1:c.*1678C>A, NM_001363011.1:c.*1678C>T, NM_001363011.1:c.*1678C>A, NM_001363010.1:c.*1678C>T, NM_001363010.1:c.*1678C>A

Select item 14833598089.

rs1483359808 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:102826621 (GRCh38)
8:103838849 (GRCh37)
Canonical SPDI:: NC_000008.11:102826620:G:A
Gene:: AZIN1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.102826621G>A, NC_000008.10:g.103838849G>A, NM_015878.5:c.*1946C>T, NM_015878.4:c.*1946C>T, NM_148174.4:c.*1946C>T, NM_148174.3:c.*1946C>T, NM_148174.2:c.*1946C>T, NM_001301668.3:c.*1953C>T, NM_001301668.2:c.*1953C>T, NM_001301668.1:c.*1953C>T, NM_001363014.1:c.*1946C>T, XM_047421860.1:c.*1946C>T, XM_047421862.1:c.*1946C>T, NM_001363083.1:c.*1946C>T, XM_047421861.1:c.*1946C>T, NM_001363024.1:c.*1946C>T, NM_001363012.1:c.*1946C>T, NM_001363013.1:c.*1946C>T, NM_001363011.1:c.*1946C>T, NM_001363010.1:c.*1946C>T

Select item 148316842710.

rs1483168427 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:102864031 (GRCh38)
8:103876259 (GRCh37)
Canonical SPDI:: NC_000008.11:102864030:G:A
Gene:: AZIN1 (Varview), MAILR (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000057/15 (TOPMED)
A=0.000312/2 (1000Genomes)
HGVS:: NC_000008.11:g.102864031G>A, NC_000008.10:g.103876259G>A, NM_015878.5:c.-604C>T, NM_015878.4:c.-604C>T, NM_148174.4:c.-458C>T, NM_148174.3:c.-458C>T, NM_148174.2:c.-458C>T, NM_001301668.3:c.-458C>T, NM_001301668.2:c.-458C>T, NM_001301668.1:c.-458C>T, NM_001363014.1:c.-1256C>T, XM_047421860.1:c.-637C>T, XM_047421862.1:c.-637C>T, NM_001363083.1:c.-625C>T, XM_047421861.1:c.-625C>T, NM_001363024.1:c.-616C>T, NM_001363012.1:c.-616C>T, NM_001363013.1:c.-1110C>T, NM_001363011.1:c.-604C>T, NM_001363010.1:c.-458C>T

Select item 148166424011.

rs1481664240 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:102828077 (GRCh38)
8:103840305 (GRCh37)
Canonical SPDI:: NC_000008.11:102828076:C:T
Gene:: AZIN1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.102828077C>T, NC_000008.10:g.103840305C>T, NM_015878.5:c.*490G>A, NM_015878.4:c.*490G>A, NM_148174.4:c.*490G>A, NM_148174.3:c.*490G>A, NM_148174.2:c.*490G>A, NM_001301668.3:c.*497G>A, NM_001301668.2:c.*497G>A, NM_001301668.1:c.*497G>A, NM_001363014.1:c.*490G>A, XM_047421860.1:c.*490G>A, XM_047421862.1:c.*490G>A, NM_001363083.1:c.*490G>A, XM_047421861.1:c.*490G>A, NM_001363024.1:c.*490G>A, NM_001363012.1:c.*490G>A, NM_001363013.1:c.*490G>A, NM_001363011.1:c.*490G>A, NM_001363010.1:c.*490G>A

Select item 148138535612.

rs1481385356 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:102827552 (GRCh38)
8:103839780 (GRCh37)
Canonical SPDI:: NC_000008.11:102827551:G:A
Gene:: AZIN1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000008.11:g.102827552G>A, NC_000008.10:g.103839780G>A, NM_015878.5:c.*1015C>T, NM_015878.4:c.*1015C>T, NM_148174.4:c.*1015C>T, NM_148174.3:c.*1015C>T, NM_148174.2:c.*1015C>T, NM_001301668.3:c.*1022C>T, NM_001301668.2:c.*1022C>T, NM_001301668.1:c.*1022C>T, NM_001363014.1:c.*1015C>T, XM_047421860.1:c.*1015C>T, XM_047421862.1:c.*1015C>T, NM_001363083.1:c.*1015C>T, XM_047421861.1:c.*1015C>T, NM_001363024.1:c.*1015C>T, NM_001363012.1:c.*1015C>T, NM_001363013.1:c.*1015C>T, NM_001363011.1:c.*1015C>T, NM_001363010.1:c.*1015C>T

Select item 148007119213.

rs1480071192 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:102843646 (GRCh38)
8:103855874 (GRCh37)
Canonical SPDI:: NC_000008.11:102843645:C:G
Gene:: AZIN1 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.102843646C>G, NC_000008.10:g.103855874C>G, NM_015878.5:c.7G>C, NM_015878.4:c.7G>C, NM_148174.4:c.7G>C, NM_148174.3:c.7G>C, NM_148174.2:c.7G>C, NM_001301668.3:c.7G>C, NM_001301668.2:c.7G>C, NM_001301668.1:c.7G>C, NM_001363014.1:c.-646G>C, XM_047421860.1:c.7G>C, XM_047421862.1:c.7G>C, NM_001363083.1:c.7G>C, XM_047421861.1:c.7G>C, NM_001363024.1:c.7G>C, NM_001363012.1:c.7G>C, NM_001363013.1:c.-646G>C, NM_001363011.1:c.7G>C, NM_001363010.1:c.7G>C, NP_056962.2:p.Gly3Arg, NP_680479.1:p.Gly3Arg, NP_001288597.1:p.Gly3Arg, XP_047277816.1:p.Gly3Arg, XP_047277818.1:p.Gly3Arg, NP_001350012.1:p.Gly3Arg, XP_047277817.1:p.Gly3Arg, NP_001349953.1:p.Gly3Arg, NP_001349941.1:p.Gly3Arg, NP_001349940.1:p.Gly3Arg, NP_001349939.1:p.Gly3Arg

Select item 147943635714.

rs1479436357 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 8:102826589 (GRCh38)
8:103838817 (GRCh37)
Canonical SPDI:: NC_000008.11:102826588:A:G,NC_000008.11:102826588:A:T
Gene:: AZIN1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000008.11:g.102826589A>G, NC_000008.11:g.102826589A>T, NC_000008.10:g.103838817A>G, NC_000008.10:g.103838817A>T, NM_015878.5:c.*1978T>C, NM_015878.5:c.*1978T>A, NM_015878.4:c.*1978T>C, NM_015878.4:c.*1978T>A, NM_148174.4:c.*1978T>C, NM_148174.4:c.*1978T>A, NM_148174.3:c.*1978T>C, NM_148174.3:c.*1978T>A, NM_148174.2:c.*1978T>C, NM_148174.2:c.*1978T>A, NM_001301668.3:c.*1985T>C, NM_001301668.3:c.*1985T>A, NM_001301668.2:c.*1985T>C, NM_001301668.2:c.*1985T>A, NM_001301668.1:c.*1985T>C, NM_001301668.1:c.*1985T>A, NM_001363014.1:c.*1978T>C, NM_001363014.1:c.*1978T>A, XM_047421860.1:c.*1978T>C, XM_047421860.1:c.*1978T>A, XM_047421862.1:c.*1978T>C, XM_047421862.1:c.*1978T>A, NM_001363083.1:c.*1978T>C, NM_001363083.1:c.*1978T>A, XM_047421861.1:c.*1978T>C, XM_047421861.1:c.*1978T>A, NM_001363024.1:c.*1978T>C, NM_001363024.1:c.*1978T>A, NM_001363012.1:c.*1978T>C, NM_001363012.1:c.*1978T>A, NM_001363013.1:c.*1978T>C, NM_001363013.1:c.*1978T>A, NM_001363011.1:c.*1978T>C, NM_001363011.1:c.*1978T>A, NM_001363010.1:c.*1978T>C, NM_001363010.1:c.*1978T>A

Select item 147901115515.

rs1479011155 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 8:102828633 (GRCh38)
8:103840861 (GRCh37)
Canonical SPDI:: NC_000008.11:102828632:C:A,NC_000008.11:102828632:C:G
Gene:: AZIN1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.102828633C>A, NC_000008.11:g.102828633C>G, NC_000008.10:g.103840861C>A, NC_000008.10:g.103840861C>G, NM_015878.5:c.1281G>T, NM_015878.5:c.1281G>C, NM_015878.4:c.1281G>T, NM_015878.4:c.1281G>C, NM_148174.4:c.1281G>T, NM_148174.4:c.1281G>C, NM_148174.3:c.1281G>T, NM_148174.3:c.1281G>C, NM_148174.2:c.1281G>T, NM_148174.2:c.1281G>C, NM_001363014.1:c.780G>T, NM_001363014.1:c.780G>C, XM_047421860.1:c.1281G>T, XM_047421860.1:c.1281G>C, XM_047421862.1:c.1278G>T, XM_047421862.1:c.1278G>C, NM_001363083.1:c.1281G>T, NM_001363083.1:c.1281G>C, XM_047421861.1:c.1278G>T, XM_047421861.1:c.1278G>C, NM_001363024.1:c.1281G>T, NM_001363024.1:c.1281G>C, NM_001363012.1:c.1278G>T, NM_001363012.1:c.1278G>C, NM_001363013.1:c.780G>T, NM_001363013.1:c.780G>C, NM_001363011.1:c.1278G>T, NM_001363011.1:c.1278G>C, NM_001363010.1:c.1278G>T, NM_001363010.1:c.1278G>C, NP_056962.2:p.Lys427Asn, NP_056962.2:p.Lys427Asn, NP_680479.1:p.Lys427Asn, NP_680479.1:p.Lys427Asn, NP_001349943.1:p.Lys260Asn, NP_001349943.1:p.Lys260Asn, XP_047277816.1:p.Lys427Asn, XP_047277816.1:p.Lys427Asn, XP_047277818.1:p.Lys426Asn, XP_047277818.1:p.Lys426Asn, NP_001350012.1:p.Lys427Asn, NP_001350012.1:p.Lys427Asn, XP_047277817.1:p.Lys426Asn, XP_047277817.1:p.Lys426Asn, NP_001349953.1:p.Lys427Asn, NP_001349953.1:p.Lys427Asn, NP_001349941.1:p.Lys426Asn, NP_001349941.1:p.Lys426Asn, NP_001349942.1:p.Lys260Asn, NP_001349942.1:p.Lys260Asn, NP_001349940.1:p.Lys426Asn, NP_001349940.1:p.Lys426Asn, NP_001349939.1:p.Lys426Asn, NP_001349939.1:p.Lys426Asn

Select item 147881644916.

rs1478816449 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:102838861 (GRCh38)
8:103851089 (GRCh37)
Canonical SPDI:: NC_000008.11:102838860:A:G
Gene:: AZIN1 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.102838861A>G, NC_000008.10:g.103851089A>G, NM_015878.5:c.332T>C, NM_015878.4:c.332T>C, NM_148174.4:c.332T>C, NM_148174.3:c.332T>C, NM_148174.2:c.332T>C, NM_001301668.3:c.332T>C, NM_001301668.2:c.332T>C, NM_001301668.1:c.332T>C, NM_001363014.1:c.-321T>C, XM_047421860.1:c.332T>C, XM_047421862.1:c.332T>C, NM_001363083.1:c.332T>C, XM_047421861.1:c.332T>C, NM_001363024.1:c.332T>C, NM_001363012.1:c.332T>C, NM_001363013.1:c.-321T>C, NM_001363011.1:c.332T>C, NM_001363010.1:c.332T>C, NP_056962.2:p.Ile111Thr, NP_680479.1:p.Ile111Thr, NP_001288597.1:p.Ile111Thr, XP_047277816.1:p.Ile111Thr, XP_047277818.1:p.Ile111Thr, NP_001350012.1:p.Ile111Thr, XP_047277817.1:p.Ile111Thr, NP_001349953.1:p.Ile111Thr, NP_001349941.1:p.Ile111Thr, NP_001349940.1:p.Ile111Thr, NP_001349939.1:p.Ile111Thr

Select item 147709007117.

rs1477090071 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:102839712 (GRCh38)
8:103851940 (GRCh37)
Canonical SPDI:: NC_000008.11:102839711:A:G
Gene:: AZIN1 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000014/2 (GnomAD)
G=0.000026/7 (TOPMED)
HGVS:: NC_000008.11:g.102839712A>G, NC_000008.10:g.103851940A>G, NM_015878.5:c.214T>C, NM_015878.4:c.214T>C, NM_148174.4:c.214T>C, NM_148174.3:c.214T>C, NM_148174.2:c.214T>C, NM_001301668.3:c.214T>C, NM_001301668.2:c.214T>C, NM_001301668.1:c.214T>C, NM_001363014.1:c.-439T>C, XM_047421860.1:c.214T>C, XM_047421862.1:c.214T>C, NM_001363083.1:c.214T>C, XM_047421861.1:c.214T>C, NM_001363024.1:c.214T>C, NM_001363012.1:c.214T>C, NM_001363013.1:c.-439T>C, NM_001363011.1:c.214T>C, NM_001363010.1:c.214T>C, NP_056962.2:p.Ser72Pro, NP_680479.1:p.Ser72Pro, NP_001288597.1:p.Ser72Pro, XP_047277816.1:p.Ser72Pro, XP_047277818.1:p.Ser72Pro, NP_001350012.1:p.Ser72Pro, XP_047277817.1:p.Ser72Pro, NP_001349953.1:p.Ser72Pro, NP_001349941.1:p.Ser72Pro, NP_001349940.1:p.Ser72Pro, NP_001349939.1:p.Ser72Pro

Select item 147549440618.

rs1475494406 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:102839743 (GRCh38)
8:103851971 (GRCh37)
Canonical SPDI:: NC_000008.11:102839742:C:G
Gene:: AZIN1 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_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_000008.11:g.102839743C>G, NC_000008.10:g.103851971C>G, NM_015878.5:c.183G>C, NM_015878.4:c.183G>C, NM_148174.4:c.183G>C, NM_148174.3:c.183G>C, NM_148174.2:c.183G>C, NM_001301668.3:c.183G>C, NM_001301668.2:c.183G>C, NM_001301668.1:c.183G>C, NM_001363014.1:c.-470G>C, XM_047421860.1:c.183G>C, XM_047421862.1:c.183G>C, NM_001363083.1:c.183G>C, XM_047421861.1:c.183G>C, NM_001363024.1:c.183G>C, NM_001363012.1:c.183G>C, NM_001363013.1:c.-470G>C, NM_001363011.1:c.183G>C, NM_001363010.1:c.183G>C, NP_056962.2:p.Gln61His, NP_680479.1:p.Gln61His, NP_001288597.1:p.Gln61His, XP_047277816.1:p.Gln61His, XP_047277818.1:p.Gln61His, NP_001350012.1:p.Gln61His, XP_047277817.1:p.Gln61His, NP_001349953.1:p.Gln61His, NP_001349941.1:p.Gln61His, NP_001349940.1:p.Gln61His, NP_001349939.1:p.Gln61His

Select item 147436781319.

rs1474367813 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:102829936 (GRCh38)
8:103842164 (GRCh37)
Canonical SPDI:: NC_000008.11:102829935:A:G
Gene:: AZIN1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.102829936A>G, NC_000008.10:g.103842164A>G, NM_015878.5:c.905T>C, NM_015878.4:c.905T>C, NM_148174.4:c.905T>C, NM_148174.3:c.905T>C, NM_148174.2:c.905T>C, NM_001301668.3:c.905T>C, NM_001301668.2:c.905T>C, NM_001301668.1:c.905T>C, NM_001363014.1:c.404T>C, XM_047421860.1:c.905T>C, NM_001363083.1:c.905T>C, NM_001363024.1:c.905T>C, NM_001363013.1:c.404T>C, NP_056962.2:p.Val302Ala, NP_680479.1:p.Val302Ala, NP_001288597.1:p.Val302Ala, NP_001349943.1:p.Val135Ala, XP_047277816.1:p.Val302Ala, NP_001350012.1:p.Val302Ala, NP_001349953.1:p.Val302Ala, NP_001349942.1:p.Val135Ala

Select item 147397871720.

rs1473978717 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 8:102864140 (GRCh38)
8:103876368 (GRCh37)
Canonical SPDI:: NC_000008.11:102864139:G:T
Gene:: AZIN1 (Varview), MAILR (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000224/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000008.11:g.102864140G>T, NC_000008.10:g.103876368G>T, NM_015878.5:c.-713C>A, NM_015878.4:c.-713C>A, NM_148174.4:c.-567C>A, NM_148174.3:c.-567C>A, NM_148174.2:c.-567C>A, NM_001301668.3:c.-567C>A, NM_001301668.2:c.-567C>A, NM_001301668.1:c.-567C>A, NM_001363014.1:c.-1365C>A, XM_047421860.1:c.-746C>A, XM_047421862.1:c.-746C>A, NM_001363083.1:c.-734C>A, XM_047421861.1:c.-734C>A, NM_001363024.1:c.-725C>A, NM_001363012.1:c.-725C>A, NM_001363013.1:c.-1219C>A, NM_001363011.1:c.-713C>A, NM_001363010.1:c.-567C>A

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