SNP Links for Gene (Select 26151) - SNP

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Select item 14906709391.

rs1490670939 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:74774649 (GRCh38)
17:72770788 (GRCh37)
Canonical SPDI:: NC_000017.11:74774648:C:T
Gene:: NAT9 (Varview), TMEM104 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_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_000017.11:g.74774649C>T, NC_000017.10:g.72770788C>T

Select item 14899738792.

rs1489973879 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:74775312 (GRCh38)
17:72771451 (GRCh37)
Canonical SPDI:: NC_000017.11:74775311:C:G,NC_000017.11:74775311:C:T
Gene:: NAT9 (Varview), TMEM104 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000043/6 (GnomAD)
HGVS:: NC_000017.11:g.74775312C>G, NC_000017.11:g.74775312C>T, NC_000017.10:g.72771451C>G, NC_000017.10:g.72771451C>T

Select item 14899322123.

rs1489932212 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:74772433 (GRCh38)
17:72768572 (GRCh37)
Canonical SPDI:: NC_000017.11:74772432:G:C
Gene:: NAT9 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
HGVS:: NC_000017.11:g.74772433G>C, NC_000017.10:g.72768572G>C, XM_011524607.3:c.*46C>G, XM_011524607.2:c.*46C>G, XM_011524607.1:c.*46C>G, XM_017024438.2:c.*46C>G, XM_017024438.1:c.*46C>G, XM_047435739.1:c.*46C>G, XM_047435740.1:c.*46C>G

Select item 14889885144.

rs1488988514 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:74772775 (GRCh38)
17:72768914 (GRCh37)
Canonical SPDI:: NC_000017.11:74772774:A:G
Gene:: NAT9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000017.11:g.74772775A>G, NC_000017.10:g.72768914A>G

Select item 14889586575.

rs1488958657 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:74773938 (GRCh38)
17:72770077 (GRCh37)
Canonical SPDI:: NC_000017.11:74773937:G:C
Gene:: NAT9 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000017.11:g.74773938G>C, NC_000017.10:g.72770077G>C, XM_006721813.4:c.-86C>G, XM_006721813.3:c.-86C>G, XM_006721813.2:c.-86C>G, XM_006721813.1:c.-86C>G

Select item 14883765376.

rs1488376537 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:74777998 (GRCh38)
17:72774137 (GRCh37)
Canonical SPDI:: NC_000017.11:74777997:T:C
Gene:: NAT9 (Varview), TMEM104 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000019/5 (TOPMED)
C=0.002406/40 (TOMMO)
C=0.002729/5 (Korea1K)
C=0.00616/18 (KOREAN)
HGVS:: NC_000017.11:g.74777998T>C, NC_000017.10:g.72774137T>C

Select item 14880581877.

rs1488058187 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:74777976 (GRCh38)
17:72774115 (GRCh37)
Canonical SPDI:: NC_000017.11:74777975:G:A
Gene:: NAT9 (Varview), TMEM104 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000017.11:g.74777976G>A, NC_000017.10:g.72774115G>A

Select item 14875497328.

rs1487549732 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 17:74771989 (GRCh38)
17:72768128 (GRCh37)
Canonical SPDI:: NC_000017.11:74771988:GG:G
Gene:: NAT9 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,downstream_transcript_variant,non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0.000071/1 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.00003/8 (TOPMED)
-=0.00005/7 (GnomAD)
HGVS:: NC_000017.11:g.74771990del, NC_000017.10:g.72768129del, NM_015654.5:c.460del, NM_015654.4:c.460del, NM_015654.3:c.460del, XM_005257212.5:c.367del, XM_005257212.4:c.367del, XM_005257212.3:c.367del, XM_005257212.2:c.367del, XM_005257212.1:c.367del, XM_006721813.4:c.367del, XM_006721813.3:c.367del, XM_006721813.2:c.367del, XM_006721813.1:c.367del, XM_011524607.3:c.*490del, NM_001305082.2:c.475del, NM_001305082.1:c.475del, XM_017024437.2:c.385del, XM_017024437.1:c.385del, NR_130953.2:n.552del, NR_130953.1:n.632del, NM_001305077.2:c.457del, NM_001305077.1:c.457del, NM_001305078.2:c.460del, NM_001305078.1:c.460del, NM_001305081.2:c.454del, NM_001305081.1:c.454del, XM_024450687.2:c.457del, XM_024450687.1:c.457del, NM_001305080.2:c.445del, NM_001305080.1:c.445del, NM_001305083.2:c.442del, NM_001305083.1:c.442del, XM_047435739.1:c.*490del, XM_047435740.1:c.*490del, XM_047435744.1:c.*399del, XM_047435742.1:c.*399del, XM_047435743.1:c.*399del, XM_047435745.1:c.*399del, NP_056469.2:p.Arg154fs, XP_005257269.1:p.Arg123fs, XP_006721876.1:p.Arg123fs, NP_001292011.1:p.Arg159fs, XP_016879926.1:p.Arg129fs, NP_001292006.1:p.Arg153fs, NP_001292007.1:p.Arg154fs, NP_001292010.1:p.Arg152fs, XP_024306455.1:p.Arg153fs, NP_001292009.1:p.Arg149fs, NP_001292012.1:p.Arg148fs

Select item 14874777369.

rs1487477736 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 17:74770905 (GRCh38)
17:72767044 (GRCh37)
Canonical SPDI:: NC_000017.11:74770904:T:A
Gene:: NAT9 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_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.74770905T>A, NC_000017.10:g.72767044T>A, NG_013022.1:g.27282T>A, NM_015654.5:c.*819A>T, NM_015654.4:c.*819A>T, NM_015654.3:c.*819A>T, XM_005257212.5:c.*819A>T, XM_005257212.4:c.*819A>T, XM_005257212.3:c.*819A>T, XM_005257212.2:c.*819A>T, XM_005257212.1:c.*819A>T, XM_006721813.4:c.*819A>T, XM_006721813.3:c.*819A>T, XM_006721813.2:c.*819A>T, XM_006721813.1:c.*819A>T, NM_001305087.3:c.*901A>T, NM_001305087.2:c.*901A>T, NM_001305087.1:c.*901A>T, NR_130954.3:n.1413A>T, NR_130954.2:n.1413A>T, NR_130954.1:n.1493A>T, NM_001305084.3:c.*901A>T, NM_001305084.2:c.*901A>T, NM_001305084.1:c.*901A>T, NM_001305085.3:c.*901A>T, NM_001305085.2:c.*901A>T, NM_001305085.1:c.*901A>T, NM_001305082.2:c.*819A>T, NM_001305082.1:c.*819A>T, XM_017024437.2:c.*819A>T, XM_017024437.1:c.*819A>T, NR_130953.2:n.1535A>T, NR_130953.1:n.1615A>T, NM_001305077.2:c.*819A>T, NM_001305077.1:c.*819A>T, NM_001305078.2:c.*819A>T, NM_001305078.1:c.*819A>T, NM_001305081.2:c.*819A>T, NM_001305081.1:c.*819A>T, XM_024450687.2:c.*819A>T, XM_024450687.1:c.*819A>T, NM_001305080.2:c.*819A>T, NM_001305080.1:c.*819A>T, NM_001305083.2:c.*819A>T, NM_001305083.1:c.*819A>T, NM_001305079.2:c.*958A>T, NM_001305079.1:c.*958A>T, NM_001305086.2:c.*901A>T, NM_001305086.1:c.*901A>T, XM_024450688.2:c.*901A>T, XM_024450688.1:c.*901A>T, XM_024450689.2:c.*901A>T, XM_024450689.1:c.*901A>T, NM_001305088.2:c.*958A>T, NM_001305088.1:c.*958A>T

Select item 148713263810.

rs1487132638 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:74777575 (GRCh38)
17:72773714 (GRCh37)
Canonical SPDI:: NC_000017.11:74777574:A:G
Gene:: NAT9 (Varview), TMEM104 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
G=0.000044/6 (GnomAD_exomes)
HGVS:: NC_000017.11:g.74777575A>G, NC_000017.10:g.72773714A>G

Select item 148698437011.

rs1486984370 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:74770831 (GRCh38)
17:72766970 (GRCh37)
Canonical SPDI:: NC_000017.11:74770830:C:T
Gene:: NAT9 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,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_000017.11:g.74770831C>T, NC_000017.10:g.72766970C>T, NG_013022.1:g.27208C>T, NM_015654.5:c.*893G>A, NM_015654.4:c.*893G>A, NM_015654.3:c.*893G>A, XM_005257212.5:c.*893G>A, XM_005257212.4:c.*893G>A, XM_005257212.3:c.*893G>A, XM_005257212.2:c.*893G>A, XM_005257212.1:c.*893G>A, XM_006721813.4:c.*893G>A, XM_006721813.3:c.*893G>A, XM_006721813.2:c.*893G>A, XM_006721813.1:c.*893G>A, NM_001305087.3:c.*975G>A, NM_001305087.2:c.*975G>A, NM_001305087.1:c.*975G>A, NR_130954.3:n.1487G>A, NR_130954.2:n.1487G>A, NR_130954.1:n.1567G>A, NM_001305084.3:c.*975G>A, NM_001305084.2:c.*975G>A, NM_001305084.1:c.*975G>A, NM_001305085.3:c.*975G>A, NM_001305085.2:c.*975G>A, NM_001305085.1:c.*975G>A, NM_001305082.2:c.*893G>A, NM_001305082.1:c.*893G>A, XM_017024437.2:c.*893G>A, XM_017024437.1:c.*893G>A, NR_130953.2:n.1609G>A, NR_130953.1:n.1689G>A, NM_001305077.2:c.*893G>A, NM_001305077.1:c.*893G>A, NM_001305078.2:c.*893G>A, NM_001305078.1:c.*893G>A, NM_001305081.2:c.*893G>A, NM_001305081.1:c.*893G>A, XM_024450687.2:c.*893G>A, XM_024450687.1:c.*893G>A, NM_001305080.2:c.*893G>A, NM_001305080.1:c.*893G>A, NM_001305083.2:c.*893G>A, NM_001305083.1:c.*893G>A, NM_001305079.2:c.*1032G>A, NM_001305079.1:c.*1032G>A, NM_001305086.2:c.*975G>A, NM_001305086.1:c.*975G>A, XM_024450688.2:c.*975G>A, XM_024450688.1:c.*975G>A, XM_024450689.2:c.*975G>A, XM_024450689.1:c.*975G>A, NM_001305088.2:c.*1032G>A, NM_001305088.1:c.*1032G>A

Select item 148683984012.

rs1486839840 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:74777947 (GRCh38)
17:72774086 (GRCh37)
Canonical SPDI:: NC_000017.11:74777946:A:G
Gene:: NAT9 (Varview), TMEM104 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_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_000017.11:g.74777947A>G, NC_000017.10:g.72774086A>G

Select item 148656179113.

rs1486561791 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 17:74774727 (GRCh38)
17:72770866 (GRCh37)
Canonical SPDI:: NC_000017.11:74774726:TTTTT:TTTT
Gene:: NAT9 (Varview), TMEM104 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TTTT=0.000071/1 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.74774731del, NC_000017.10:g.72770870del

Select item 148628813814.

rs1486288138 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:74775815 (GRCh38)
17:72771954 (GRCh37)
Canonical SPDI:: NC_000017.11:74775814:T:C
Gene:: NAT9 (Varview), TMEM104 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000029/4 (GnomAD)
C=0.000038/10 (TOPMED)
HGVS:: NC_000017.11:g.74775815T>C, NC_000017.10:g.72771954T>C, NM_001305082.2:c.-102A>G, NM_001305082.1:c.-102A>G

Select item 148551963015.

rs1485519630 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 17:74770087 (GRCh38)
17:72766226 (GRCh37)
Canonical SPDI:: NC_000017.11:74770086:C:A,NC_000017.11:74770086:C:G
Gene:: NAT9 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000017.11:g.74770087C>A, NC_000017.11:g.74770087C>G, NC_000017.10:g.72766226C>A, NC_000017.10:g.72766226C>G, NG_013022.1:g.26464C>A, NG_013022.1:g.26464C>G

Select item 148529674916.

rs1485296749 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:74770475 (GRCh38)
17:72766614 (GRCh37)
Canonical SPDI:: NC_000017.11:74770474:A:T
Gene:: NAT9 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_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_000017.11:g.74770475A>T, NC_000017.10:g.72766614A>T, NG_013022.1:g.26852A>T

Select item 148482023717.

rs1484820237 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 17:74776420 (GRCh38)
17:72772559 (GRCh37)
Canonical SPDI:: NC_000017.11:74776419:A:G,NC_000017.11:74776419:A:T
Gene:: NAT9 (Varview), TMEM104 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.74776420A>G, NC_000017.11:g.74776420A>T, NC_000017.10:g.72772559A>G, NC_000017.10:g.72772559A>T, NM_015654.4:c.-163T>C, NM_015654.4:c.-163T>A, NM_001305082.1:c.-293T>C, NM_001305082.1:c.-293T>A, NR_130953.1:n.6T>C, NR_130953.1:n.6T>A, NM_001305077.1:c.-163T>C, NM_001305077.1:c.-163T>A, NM_001305078.1:c.-159T>C, NM_001305078.1:c.-159T>A, NM_001305081.1:c.-163T>C, NM_001305081.1:c.-163T>A, NM_001305080.1:c.-163T>C, NM_001305080.1:c.-163T>A, NM_001305083.1:c.-163T>C, NM_001305083.1:c.-163T>A, NM_001305079.1:c.-163T>C, NM_001305079.1:c.-163T>A, NM_001305086.1:c.-163T>C, NM_001305086.1:c.-163T>A, NM_001305087.1:c.-258T>C, NM_001305087.1:c.-258T>A, NR_130954.1:n.6T>C, NR_130954.1:n.6T>A, NM_001305084.1:c.-163T>C, NM_001305084.1:c.-163T>A, NM_001305085.1:c.-163T>C, NM_001305085.1:c.-163T>A, NM_001305088.1:c.-167T>C, NM_001305088.1:c.-167T>A

Select item 148461405818.

rs1484614058 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:74774063 (GRCh38)
17:72770202 (GRCh37)
Canonical SPDI:: NC_000017.11:74774062:T:C
Gene:: NAT9 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.74774063T>C, NC_000017.10:g.72770202T>C, XM_006721813.4:c.-211A>G, XM_006721813.3:c.-211A>G, XM_006721813.2:c.-211A>G, XM_006721813.1:c.-211A>G

Select item 148441827519.

rs1484418275 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:74776779 (GRCh38)
17:72772918 (GRCh37)
Canonical SPDI:: NC_000017.11:74776778:C:T
Gene:: NAT9 (Varview), TMEM104 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000017.11:g.74776779C>T, NC_000017.10:g.72772918C>T

Select item 148325504620.

rs1483255046 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:74778121 (GRCh38)
17:72774260 (GRCh37)
Canonical SPDI:: NC_000017.11:74778120:A:G
Gene:: NAT9 (Varview), TMEM104 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.74778121A>G, NC_000017.10:g.72774260A>G

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