SNP Links for Nucleotide (Select 1012282674) - SNP

Links from Nucleotide

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Select item 14903557111.

rs1490355711 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:74533436 (GRCh38)
2:74760563 (GRCh37)
Canonical SPDI:: NC_000002.12:74533435:G:C
Gene:: HTRA2 (Varview), LOXL3 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.74533436G>C, NC_000002.11:g.74760563G>C, NG_033047.1:g.25500C>G, NM_032603.5:c.*170C>G, NM_032603.4:c.*170C>G, NM_032603.3:c.*170C>G, NM_032603.2:c.*170C>G, NM_001289164.3:c.*170C>G, NM_001289164.2:c.*170C>G, NM_001289164.1:c.*170C>G, NM_001289165.2:c.*170C>G, NM_001289165.1:c.*170C>G, NG_012163.1:g.9032G>C, NM_145074.2:c.*451G>C, NR_135769.1:n.2470G>C, NM_001321727.1:c.*451G>C, NM_001321728.1:c.*451G>C, NR_135772.1:n.1902G>C, NR_135770.1:n.1898G>C, NR_135771.1:n.1882G>C, NG_033037.1:g.1412C>G, NM_013247.4:c.*451G>C, XM_011533134.3:c.*170C>G, XM_011533134.2:c.*170C>G, XM_011533134.1:c.*170C>G, XM_024453178.2:c.*170C>G, XM_024453178.1:c.*170C>G, XM_024453177.2:c.*170C>G, XM_024453177.1:c.*170C>G, XM_024453176.2:c.*170C>G, XM_024453176.1:c.*170C>G

Select item 14879051722.

rs1487905172 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:74529626 (GRCh38)
2:74756753 (GRCh37)
Canonical SPDI:: NC_000002.12:74529625:C:G
Gene:: AUP1 (Varview), HTRA2 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,missense_variant,non_coding_transcript_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_000002.12:g.74529626C>G, NC_000002.11:g.74756753C>G, NG_012163.1:g.5222C>G, NM_145074.2:c.-381C>G, NR_135769.1:n.222C>G, NM_001321727.1:c.-381C>G, NM_001321728.1:c.-381C>G, NR_135772.1:n.222C>G, NR_135770.1:n.222C>G, NR_135771.1:n.222C>G, NG_033037.1:g.5222G>C, NM_181575.5:c.4G>C, NM_181575.4:c.4G>C, NM_181575.3:c.4G>C, NM_013247.4:c.-381C>G, NR_126511.2:n.81G>C, NR_126511.1:n.272G>C, NR_126510.2:n.81G>C, NR_126510.1:n.272G>C, NM_012103.2:c.4G>C, NM_181576.1:c.4G>C, NM_012103.1:c.4G>C, NP_853553.1:p.Glu2Gln

Select item 14856845043.

rs1485684504 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:74531652 (GRCh38)
2:74758779 (GRCh37)
Canonical SPDI:: NC_000002.12:74531651:C:T
Gene:: AUP1 (Varview), HTRA2 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.74531652C>T, NC_000002.11:g.74758779C>T, NG_033047.1:g.27284G>A, NG_012163.1:g.7248C>T, NM_013247.5:c.995C>T, NM_013247.4:c.995C>T, NM_145074.2:c.800C>T, NR_135769.1:n.1637C>T, NM_001321727.1:c.1025C>T, NM_001321728.1:c.995C>T, NR_135772.1:n.1069C>T, NR_135770.1:n.1065C>T, NR_135771.1:n.1049C>T, NG_033037.1:g.3196G>A, NP_037379.1:p.Ala332Val, NP_659540.1:p.Ala267Val, NP_001308656.1:p.Ala342Val, NP_001308657.1:p.Ala332Val

Select item 14838420394.

rs1483842039 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:74529762 (GRCh38)
2:74756889 (GRCh37)
Canonical SPDI:: NC_000002.12:74529761:G:C
Gene:: AUP1 (Varview), HTRA2 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,non_coding_transcript_variant,2KB_upstream_variant
HGVS:: NC_000002.12:g.74529762G>C, NC_000002.11:g.74756889G>C, NG_012163.1:g.5358G>C, NM_145074.2:c.-245G>C, NR_135769.1:n.358G>C, NM_001321727.1:c.-245G>C, NM_001321728.1:c.-245G>C, NR_135772.1:n.358G>C, NR_135770.1:n.358G>C, NR_135771.1:n.358G>C, NG_033037.1:g.5086C>G, NM_013247.4:c.-245G>C, NM_181575.4:c.-133C>G, NM_181575.3:c.-133C>G, NR_126511.1:n.136C>G, NR_126510.1:n.136C>G

Select item 14824831565.

rs1482483156 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 2:74533300 (GRCh38)
2:74760427 (GRCh37)
Canonical SPDI:: NC_000002.12:74533298:AAA:A
Gene:: HTRA2 (Varview), LOXL3 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.74533300_74533301del, NC_000002.11:g.74760427_74760428del, NG_033047.1:g.25636_25637del, NM_032603.5:c.*306_*307del, NM_032603.4:c.*306_*307del, NM_032603.3:c.*306_*307del, NM_032603.2:c.*306_*307del, NM_001289164.3:c.*306_*307del, NM_001289164.2:c.*306_*307del, NM_001289164.1:c.*306_*307del, NM_001289165.2:c.*306_*307del, NM_001289165.1:c.*306_*307del, NG_012163.1:g.8896_8897del, NM_013247.5:c.*315_*316del, NM_013247.4:c.*315_*316del, NM_145074.2:c.*315_*316del, NR_135769.1:n.2334_2335del, NM_001321727.1:c.*315_*316del, NM_001321728.1:c.*315_*316del, NR_135772.1:n.1766_1767del, NR_135770.1:n.1762_1763del, NR_135771.1:n.1746_1747del, NG_033037.1:g.1548_1549del, XM_011533134.3:c.*306_*307del, XM_011533134.2:c.*306_*307del, XM_011533134.1:c.*306_*307del, XM_024453178.2:c.*306_*307del, XM_024453178.1:c.*306_*307del, XM_024453177.2:c.*306_*307del, XM_024453177.1:c.*306_*307del, XM_024453176.2:c.*306_*307del, XM_024453176.1:c.*306_*307del

Select item 14814511476.

rs1481451147 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:74530719 (GRCh38)
2:74757846 (GRCh37)
Canonical SPDI:: NC_000002.12:74530718:G:A
Gene:: AUP1 (Varview), HTRA2 (Varview)
Functional Consequence:: synonymous_variant,upstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.74530719G>A, NC_000002.11:g.74757846G>A, NG_012163.1:g.6315G>A, NM_013247.5:c.609G>A, NM_013247.4:c.609G>A, NM_145074.2:c.609G>A, NR_135769.1:n.1211G>A, NM_001321727.1:c.609G>A, NM_001321728.1:c.609G>A, NR_135772.1:n.683G>A, NR_135770.1:n.679G>A, NR_135771.1:n.663G>A, NG_033037.1:g.4129C>T

Select item 14813856527.

rs1481385652 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 2:74532916 (GRCh38)
2:74760043 (GRCh37)
Canonical SPDI:: NC_000002.12:74532915:G:A,NC_000002.12:74532915:G:T
Gene:: HTRA2 (Varview), LOXL3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.74532916G>A, NC_000002.12:g.74532916G>T, NC_000002.11:g.74760043G>A, NC_000002.11:g.74760043G>T, NG_033047.1:g.26020C>T, NG_033047.1:g.26020C>A, NM_032603.5:c.*690C>T, NM_032603.5:c.*690C>A, NM_032603.4:c.*690C>T, NM_032603.4:c.*690C>A, NM_032603.3:c.*690C>T, NM_032603.3:c.*690C>A, NM_032603.2:c.*690C>T, NM_032603.2:c.*690C>A, NM_001289164.3:c.*690C>T, NM_001289164.3:c.*690C>A, NM_001289164.2:c.*690C>T, NM_001289164.2:c.*690C>A, NM_001289164.1:c.*690C>T, NM_001289164.1:c.*690C>A, NM_001289165.2:c.*690C>T, NM_001289165.2:c.*690C>A, NM_001289165.1:c.*690C>T, NM_001289165.1:c.*690C>A, NG_012163.1:g.8512G>A, NG_012163.1:g.8512G>T, NM_013247.5:c.1308G>A, NM_013247.5:c.1308G>T, NM_013247.4:c.1308G>A, NM_013247.4:c.1308G>T, NM_145074.2:c.1017G>A, NM_145074.2:c.1017G>T, NR_135769.1:n.1950G>A, NR_135769.1:n.1950G>T, NM_001321727.1:c.1242G>A, NM_001321727.1:c.1242G>T, NM_001321728.1:c.1212G>A, NM_001321728.1:c.1212G>T, NR_135772.1:n.1382G>A, NR_135772.1:n.1382G>T, NR_135770.1:n.1378G>A, NR_135770.1:n.1378G>T, NR_135771.1:n.1362G>A, NR_135771.1:n.1362G>T, NG_033037.1:g.1932C>T, NG_033037.1:g.1932C>A, XM_011533134.3:c.*690C>T, XM_011533134.3:c.*690C>A, XM_024453178.2:c.*690C>T, XM_024453178.2:c.*690C>A, XM_024453177.2:c.*690C>T, XM_024453177.2:c.*690C>A, XM_024453176.2:c.*690C>T, XM_024453176.2:c.*690C>A, NP_037379.1:p.Gln436His, NP_659540.1:p.Gln339His, NP_001308656.1:p.Gln414His, NP_001308657.1:p.Gln404His

Select item 14809254698.

rs1480925469 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:74532675 (GRCh38)
2:74759802 (GRCh37)
Canonical SPDI:: NC_000002.12:74532674:T:A
Gene:: HTRA2 (Varview), LOXL3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.74532675T>A, NC_000002.11:g.74759802T>A, NG_033047.1:g.26261A>T, NM_032603.5:c.*931A>T, NM_032603.4:c.*931A>T, NM_032603.3:c.*931A>T, NM_001289164.3:c.*931A>T, NM_001289164.2:c.*931A>T, NM_001289164.1:c.*931A>T, NM_001289165.2:c.*931A>T, NM_001289165.1:c.*931A>T, NG_012163.1:g.8271T>A, NM_013247.5:c.1172T>A, NM_013247.4:c.1172T>A, NR_135769.1:n.1814T>A, NR_135772.1:n.1246T>A, NR_135770.1:n.1242T>A, NR_135771.1:n.1226T>A, NG_033037.1:g.2173A>T, XM_011533134.3:c.*931A>T, XM_024453178.2:c.*931A>T, XM_024453177.2:c.*931A>T, XM_024453176.2:c.*931A>T, NP_037379.1:p.Val391Glu

Select item 14803287619.

rs1480328761 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:74533349 (GRCh38)
2:74760476 (GRCh37)
Canonical SPDI:: NC_000002.12:74533348:T:C
Gene:: HTRA2 (Varview), LOXL3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
HGVS:: NC_000002.12:g.74533349T>C, NC_000002.11:g.74760476T>C, NG_033047.1:g.25587A>G, NM_032603.5:c.*257A>G, NM_032603.4:c.*257A>G, NM_032603.3:c.*257A>G, NM_032603.2:c.*257A>G, NM_001289164.3:c.*257A>G, NM_001289164.2:c.*257A>G, NM_001289164.1:c.*257A>G, NM_001289165.2:c.*257A>G, NM_001289165.1:c.*257A>G, NG_012163.1:g.8945T>C, NM_145074.2:c.*364T>C, NR_135769.1:n.2383T>C, NM_001321727.1:c.*364T>C, NM_001321728.1:c.*364T>C, NR_135772.1:n.1815T>C, NR_135770.1:n.1811T>C, NR_135771.1:n.1795T>C, NG_033037.1:g.1499A>G, NM_013247.4:c.*364T>C, XM_011533134.3:c.*257A>G, XM_011533134.2:c.*257A>G, XM_011533134.1:c.*257A>G, XM_024453178.2:c.*257A>G, XM_024453178.1:c.*257A>G, XM_024453177.2:c.*257A>G, XM_024453177.1:c.*257A>G, XM_024453176.2:c.*257A>G, XM_024453176.1:c.*257A>G

Select item 147857213310.

rs1478572133 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:74533335 (GRCh38)
2:74760462 (GRCh37)
Canonical SPDI:: NC_000002.12:74533334:T:C
Gene:: HTRA2 (Varview), LOXL3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.74533335T>C, NC_000002.11:g.74760462T>C, NG_033047.1:g.25601A>G, NM_032603.5:c.*271A>G, NM_032603.4:c.*271A>G, NM_032603.3:c.*271A>G, NM_032603.2:c.*271A>G, NM_001289164.3:c.*271A>G, NM_001289164.2:c.*271A>G, NM_001289164.1:c.*271A>G, NM_001289165.2:c.*271A>G, NM_001289165.1:c.*271A>G, NG_012163.1:g.8931T>C, NM_145074.2:c.*350T>C, NR_135769.1:n.2369T>C, NM_001321727.1:c.*350T>C, NM_001321728.1:c.*350T>C, NR_135772.1:n.1801T>C, NR_135770.1:n.1797T>C, NR_135771.1:n.1781T>C, NG_033037.1:g.1513A>G, NM_013247.4:c.*350T>C, XM_011533134.3:c.*271A>G, XM_011533134.2:c.*271A>G, XM_011533134.1:c.*271A>G, XM_024453178.2:c.*271A>G, XM_024453178.1:c.*271A>G, XM_024453177.2:c.*271A>G, XM_024453177.1:c.*271A>G, XM_024453176.2:c.*271A>G, XM_024453176.1:c.*271A>G

Select item 147729749811.

rs1477297498 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:74533061 (GRCh38)
2:74760188 (GRCh37)
Canonical SPDI:: NC_000002.12:74533060:G:A
Gene:: HTRA2 (Varview), LOXL3 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.74533061G>A, NC_000002.11:g.74760188G>A, NG_033047.1:g.25875C>T, NM_032603.5:c.*545C>T, NM_032603.4:c.*545C>T, NM_032603.3:c.*545C>T, NM_032603.2:c.*545C>T, NM_001289164.3:c.*545C>T, NM_001289164.2:c.*545C>T, NM_001289164.1:c.*545C>T, NM_001289165.2:c.*545C>T, NM_001289165.1:c.*545C>T, NG_012163.1:g.8657G>A, NM_013247.5:c.*76G>A, NM_013247.4:c.*76G>A, NM_145074.2:c.*76G>A, NR_135769.1:n.2095G>A, NM_001321727.1:c.*76G>A, NM_001321728.1:c.*76G>A, NR_135772.1:n.1527G>A, NR_135770.1:n.1523G>A, NR_135771.1:n.1507G>A, NG_033037.1:g.1787C>T, XM_011533134.3:c.*545C>T, XM_024453178.2:c.*545C>T, XM_024453177.2:c.*545C>T, XM_024453176.2:c.*545C>T

Select item 147515193212.

rs1475151932 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:74531889 (GRCh38)
2:74759016 (GRCh37)
Canonical SPDI:: NC_000002.12:74531888:G:A
Gene:: HTRA2 (Varview), LOXL3 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant,downstream_transcript_variant,500B_downstream_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.74531889G>A, NC_000002.11:g.74759016G>A, NG_033047.1:g.27047C>T, NG_012163.1:g.7485G>A, NM_013247.5:c.1079G>A, NM_013247.4:c.1079G>A, NM_145074.2:c.884G>A, NR_135769.1:n.1721G>A, NM_001321727.1:c.1109G>A, NM_001321728.1:c.1079G>A, NR_135772.1:n.1153G>A, NR_135770.1:n.1149G>A, NR_135771.1:n.1133G>A, NG_033037.1:g.2959C>T, NP_037379.1:p.Arg360His, NP_659540.1:p.Arg295His, NP_001308656.1:p.Arg370His, NP_001308657.1:p.Arg360His

Select item 147375027713.

rs1473750277 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:74529506 (GRCh38)
2:74756633 (GRCh37)
Canonical SPDI:: NC_000002.12:74529505:G:A
Gene:: AUP1 (Varview), HTRA2 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000013/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.74529506G>A, NC_000002.11:g.74756633G>A, NG_012163.1:g.5102G>A, NM_145074.2:c.-501G>A, NR_135769.1:n.102G>A, NM_001321727.1:c.-501G>A, NM_001321728.1:c.-501G>A, NR_135772.1:n.102G>A, NR_135770.1:n.102G>A, NR_135771.1:n.102G>A, NG_033037.1:g.5342C>T, NM_013247.4:c.-501G>A

Select item 147190236214.

rs1471902362 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:74533424 (GRCh38)
2:74760551 (GRCh37)
Canonical SPDI:: NC_000002.12:74533423:C:T
Gene:: HTRA2 (Varview), LOXL3 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000043/6 (GnomAD)
T=0.000053/14 (TOPMED)
HGVS:: NC_000002.12:g.74533424C>T, NC_000002.11:g.74760551C>T, NG_033047.1:g.25512G>A, NM_032603.5:c.*182G>A, NM_032603.4:c.*182G>A, NM_032603.3:c.*182G>A, NM_032603.2:c.*182G>A, NM_001289164.3:c.*182G>A, NM_001289164.2:c.*182G>A, NM_001289164.1:c.*182G>A, NM_001289165.2:c.*182G>A, NM_001289165.1:c.*182G>A, NG_012163.1:g.9020C>T, NM_145074.2:c.*439C>T, NR_135769.1:n.2458C>T, NM_001321727.1:c.*439C>T, NM_001321728.1:c.*439C>T, NR_135772.1:n.1890C>T, NR_135770.1:n.1886C>T, NR_135771.1:n.1870C>T, NG_033037.1:g.1424G>A, NM_013247.4:c.*439C>T, XM_011533134.3:c.*182G>A, XM_011533134.2:c.*182G>A, XM_011533134.1:c.*182G>A, XM_024453178.2:c.*182G>A, XM_024453178.1:c.*182G>A, XM_024453177.2:c.*182G>A, XM_024453177.1:c.*182G>A, XM_024453176.2:c.*182G>A, XM_024453176.1:c.*182G>A

Select item 147173258715.

rs1471732587 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:74530936 (GRCh38)
2:74758063 (GRCh37)
Canonical SPDI:: NC_000002.12:74530935:G:A
Gene:: AUP1 (Varview), HTRA2 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.74530936G>A, NC_000002.11:g.74758063G>A, NG_033047.1:g.28000C>T, NG_012163.1:g.6532G>A, NM_013247.5:c.737G>A, NM_013247.4:c.737G>A, NR_135769.1:n.1339G>A, NM_001321727.1:c.737G>A, NM_001321728.1:c.737G>A, NR_135772.1:n.811G>A, NR_135770.1:n.807G>A, NR_135771.1:n.791G>A, NG_033037.1:g.3912C>T, NP_037379.1:p.Gly246Glu, NP_001308656.1:p.Gly246Glu, NP_001308657.1:p.Gly246Glu

Select item 147021008716.

rs1470210087 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 2:74531673 (GRCh38)
2:74758800 (GRCh37)
Canonical SPDI:: NC_000002.12:74531672:G:A,NC_000002.12:74531672:G:T
Gene:: AUP1 (Varview), HTRA2 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.74531673G>A, NC_000002.12:g.74531673G>T, NC_000002.11:g.74758800G>A, NC_000002.11:g.74758800G>T, NG_033047.1:g.27263C>T, NG_033047.1:g.27263C>A, NG_012163.1:g.7269G>A, NG_012163.1:g.7269G>T, NM_013247.5:c.1016G>A, NM_013247.5:c.1016G>T, NM_013247.4:c.1016G>A, NM_013247.4:c.1016G>T, NM_145074.2:c.821G>A, NM_145074.2:c.821G>T, NR_135769.1:n.1658G>A, NR_135769.1:n.1658G>T, NM_001321727.1:c.1046G>A, NM_001321727.1:c.1046G>T, NM_001321728.1:c.1016G>A, NM_001321728.1:c.1016G>T, NR_135772.1:n.1090G>A, NR_135772.1:n.1090G>T, NR_135770.1:n.1086G>A, NR_135770.1:n.1086G>T, NR_135771.1:n.1070G>A, NR_135771.1:n.1070G>T, NG_033037.1:g.3175C>T, NG_033037.1:g.3175C>A, NP_037379.1:p.Arg339Gln, NP_037379.1:p.Arg339Leu, NP_659540.1:p.Arg274Gln, NP_659540.1:p.Arg274Leu, NP_001308656.1:p.Arg349Gln, NP_001308656.1:p.Arg349Leu, NP_001308657.1:p.Arg339Gln, NP_001308657.1:p.Arg339Leu

Select item 146797609317.

rs1467976093 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:74531882 (GRCh38)
2:74759009 (GRCh37)
Canonical SPDI:: NC_000002.12:74531881:C:T
Gene:: HTRA2 (Varview), LOXL3 (Varview)
Functional Consequence:: stop_gained,500B_downstream_variant,coding_sequence_variant,downstream_transcript_variant,non_coding_transcript_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_000002.12:g.74531882C>T, NC_000002.11:g.74759009C>T, NG_033047.1:g.27054G>A, NG_012163.1:g.7478C>T, NM_013247.5:c.1072C>T, NM_013247.4:c.1072C>T, NM_145074.2:c.877C>T, NR_135769.1:n.1714C>T, NM_001321727.1:c.1102C>T, NM_001321728.1:c.1072C>T, NR_135772.1:n.1146C>T, NR_135770.1:n.1142C>T, NR_135771.1:n.1126C>T, NG_033037.1:g.2966G>A, NP_037379.1:p.Gln358Ter, NP_659540.1:p.Gln293Ter, NP_001308656.1:p.Gln368Ter, NP_001308657.1:p.Gln358Ter

Select item 146791046718.

rs1467910467 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 2:74529656 (GRCh38)
2:74756783 (GRCh37)
Canonical SPDI:: NC_000002.12:74529655:G:A,NC_000002.12:74529655:G:T
Gene:: AUP1 (Varview), HTRA2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.74529656G>A, NC_000002.12:g.74529656G>T, NC_000002.11:g.74756783G>A, NC_000002.11:g.74756783G>T, NG_012163.1:g.5252G>A, NG_012163.1:g.5252G>T, NM_145074.2:c.-351G>A, NM_145074.2:c.-351G>T, NR_135769.1:n.252G>A, NR_135769.1:n.252G>T, NM_001321727.1:c.-351G>A, NM_001321727.1:c.-351G>T, NM_001321728.1:c.-351G>A, NM_001321728.1:c.-351G>T, NR_135772.1:n.252G>A, NR_135772.1:n.252G>T, NR_135770.1:n.252G>A, NR_135770.1:n.252G>T, NR_135771.1:n.252G>A, NR_135771.1:n.252G>T, NG_033037.1:g.5192C>T, NG_033037.1:g.5192C>A, NM_181575.5:c.-27C>T, NM_181575.5:c.-27C>A, NM_181575.4:c.-27C>T, NM_181575.4:c.-27C>A, NM_181575.3:c.-27C>T, NM_181575.3:c.-27C>A, NM_013247.4:c.-351G>A, NM_013247.4:c.-351G>T, NR_126511.2:n.51C>T, NR_126511.2:n.51C>A, NR_126511.1:n.242C>T, NR_126511.1:n.242C>A, NR_126510.2:n.51C>T, NR_126510.2:n.51C>A, NR_126510.1:n.242C>T, NR_126510.1:n.242C>A, NM_012103.2:c.-27C>T, NM_012103.2:c.-27C>A, NM_181576.1:c.-27C>T, NM_181576.1:c.-27C>A, NM_012103.1:c.-27C>T, NM_012103.1:c.-27C>A

Select item 146673871019.

rs1466738710 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:74533130 (GRCh38)
2:74760257 (GRCh37)
Canonical SPDI:: NC_000002.12:74533129:G:A
Gene:: HTRA2 (Varview), LOXL3 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_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_000002.12:g.74533130G>A, NC_000002.11:g.74760257G>A, NG_033047.1:g.25806C>T, NM_032603.5:c.*476C>T, NM_032603.4:c.*476C>T, NM_032603.3:c.*476C>T, NM_032603.2:c.*476C>T, NM_001289164.3:c.*476C>T, NM_001289164.2:c.*476C>T, NM_001289164.1:c.*476C>T, NM_001289165.2:c.*476C>T, NM_001289165.1:c.*476C>T, NG_012163.1:g.8726G>A, NM_013247.5:c.*145G>A, NM_013247.4:c.*145G>A, NM_145074.2:c.*145G>A, NR_135769.1:n.2164G>A, NM_001321727.1:c.*145G>A, NM_001321728.1:c.*145G>A, NR_135772.1:n.1596G>A, NR_135770.1:n.1592G>A, NR_135771.1:n.1576G>A, NG_033037.1:g.1718C>T, XM_011533134.3:c.*476C>T, XM_024453178.2:c.*476C>T, XM_024453177.2:c.*476C>T, XM_024453177.1:c.*476C>T, XM_024453176.2:c.*476C>T, XM_024453176.1:c.*476C>T

Select item 146530434920.

rs1465304349 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:74529612 (GRCh38)
2:74756739 (GRCh37)
Canonical SPDI:: NC_000002.12:74529611:C:G
Gene:: AUP1 (Varview), HTRA2 (Varview)
Functional Consequence:: upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
HGVS:: NC_000002.12:g.74529612C>G, NC_000002.11:g.74756739C>G, NG_012163.1:g.5208C>G, NM_145074.2:c.-395C>G, NR_135769.1:n.208C>G, NM_001321727.1:c.-395C>G, NM_001321728.1:c.-395C>G, NR_135772.1:n.208C>G, NR_135770.1:n.208C>G, NR_135771.1:n.208C>G, NG_033037.1:g.5236G>C, NM_181575.5:c.18G>C, NM_181575.4:c.18G>C, NM_181575.3:c.18G>C, NM_013247.4:c.-395C>G, NR_126511.2:n.95G>C, NR_126511.1:n.286G>C, NR_126510.2:n.95G>C, NR_126510.1:n.286G>C, NM_012103.2:c.18G>C, NM_181576.1:c.18G>C, NM_012103.1:c.18G>C

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