SNP Links for Nucleotide (Select 1019367000) - SNP

Select item 14904019651.

rs1490401965 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 5:56913883 (GRCh38)
5:56209710 (GRCh37)
Canonical SPDI:: NC_000005.10:56913882:T:C,NC_000005.10:56913882:T:G
Gene:: SETD9 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.56913883T>C, NC_000005.10:g.56913883T>G, NC_000005.9:g.56209710T>C, NC_000005.9:g.56209710T>G, XM_005248426.5:c.168T>C, XM_005248426.5:c.168T>G, XM_005248426.4:c.168T>C, XM_005248426.4:c.168T>G, XM_005248426.3:c.168T>C, XM_005248426.3:c.168T>G, XM_005248426.2:c.168T>C, XM_005248426.2:c.168T>G, XM_005248426.1:c.168T>C, XM_005248426.1:c.168T>G, NM_153706.4:c.600T>C, NM_153706.4:c.600T>G, NM_153706.3:c.600T>C, NM_153706.3:c.600T>G, XM_011543140.4:c.372T>C, XM_011543140.4:c.372T>G, XM_011543140.3:c.372T>C, XM_011543140.3:c.372T>G, XM_011543140.2:c.372T>C, XM_011543140.2:c.372T>G, XM_011543140.1:c.372T>C, XM_011543140.1:c.372T>G, NM_001171990.3:c.600T>C, NM_001171990.3:c.600T>G, NM_001171990.2:c.600T>C, NM_001171990.2:c.600T>G, NM_001171990.1:c.600T>C, NM_001171990.1:c.600T>G, XM_011543139.3:c.504T>C, XM_011543139.3:c.504T>G, XM_011543139.2:c.504T>C, XM_011543139.2:c.504T>G, XM_011543139.1:c.504T>C, XM_011543139.1:c.504T>G, NR_136555.2:n.282T>C, NR_136555.2:n.282T>G, NR_136555.1:n.618T>C, NR_136555.1:n.618T>G, NM_001323020.2:c.522T>C, NM_001323020.2:c.522T>G, NM_001323020.1:c.522T>C, NM_001323020.1:c.522T>G, NM_001323018.2:c.522T>C, NM_001323018.2:c.522T>G, NM_001323018.1:c.522T>C, NM_001323018.1:c.522T>G, NM_001323019.2:c.600T>C, NM_001323019.2:c.600T>G, NM_001323019.1:c.600T>C, NM_001323019.1:c.600T>G, NR_136556.2:n.282T>C, NR_136556.2:n.282T>G, NR_136556.1:n.618T>C, NR_136556.1:n.618T>G, NR_136558.2:n.282T>C, NR_136558.2:n.282T>G, NR_136558.1:n.618T>C, NR_136558.1:n.618T>G, NM_001323022.1:c.144T>C, NM_001323022.1:c.144T>G, NR_136557.1:n.467T>C, NR_136557.1:n.467T>G, XP_005248483.1:p.Asn56Lys, NP_714917.2:p.Asn200Lys, XP_011541442.1:p.Asn124Lys, NP_001165461.1:p.Asn200Lys, XP_011541441.1:p.Asn168Lys, NP_001309949.1:p.Asn174Lys, NP_001309947.1:p.Asn174Lys, NP_001309948.1:p.Asn200Lys, NP_001309951.1:p.Asn48Lys

Select item 14900315622.

rs1490031562 has merged into rs758154357 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,TTTTT [Show Flanks]
Chromosome:: 5:56916957 (GRCh38)
5:56212784 (GRCh37)
Canonical SPDI:: NC_000005.10:56916954:TTTTTT:TT,NC_000005.10:56916954:TTTTTT:TTTTTTT
Gene:: SETD9 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
-=0.000005/1 (GnomAD_exomes)
-=0.000009/1 (ExAC)
HGVS:: NC_000005.10:g.56916957_56916960del, NC_000005.10:g.56916960dup, NC_000005.9:g.56212784_56212787del, NC_000005.9:g.56212787dup, XM_005248426.5:c.*55_*58del, XM_005248426.5:c.*58dup, XM_005248426.4:c.*55_*58del, XM_005248426.4:c.*58dup, XM_005248426.3:c.*55_*58del, XM_005248426.3:c.*58dup, XM_005248426.2:c.*55_*58del, XM_005248426.2:c.*58dup, XM_005248426.1:c.*55_*58del, XM_005248426.1:c.*58dup, NM_153706.4:c.*55_*58del, NM_153706.4:c.*58dup, NM_153706.3:c.*55_*58del, NM_153706.3:c.*58dup, XM_011543140.4:c.*55_*58del, XM_011543140.4:c.*58dup, XM_011543140.3:c.*55_*58del, XM_011543140.3:c.*58dup, XM_011543140.2:c.*55_*58del, XM_011543140.2:c.*58dup, XM_011543140.1:c.*55_*58del, XM_011543140.1:c.*58dup, XM_011543139.3:c.*55_*58del, XM_011543139.3:c.*58dup, XM_011543139.2:c.*55_*58del, XM_011543139.2:c.*58dup, XM_011543139.1:c.*55_*58del, XM_011543139.1:c.*58dup, NM_001323018.2:c.*55_*58del, NM_001323018.2:c.*58dup, NM_001323018.1:c.*55_*58del, NM_001323018.1:c.*58dup, NR_136556.2:n.637_640del, NR_136556.2:n.640dup, NR_136556.1:n.973_976del, NR_136556.1:n.976dup, NM_001323022.1:c.*55_*58del, NM_001323022.1:c.*58dup, NR_136557.1:n.822_825del, NR_136557.1:n.825dup

Select item 14874117573.

rs1487411757 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:56911473 (GRCh38)
5:56207300 (GRCh37)
Canonical SPDI:: NC_000005.10:56911472:G:A
Gene:: SETD9 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000005.10:g.56911473G>A, NC_000005.9:g.56207300G>A, XM_005248426.5:c.-752G>A, NM_153706.4:c.403G>A, NM_153706.3:c.403G>A, XM_011543140.4:c.175G>A, XM_011543140.3:c.175G>A, XM_011543140.2:c.175G>A, XM_011543140.1:c.175G>A, NM_001171990.3:c.403G>A, NM_001171990.2:c.403G>A, NM_001171990.1:c.403G>A, XM_011543139.3:c.307G>A, XM_011543139.2:c.307G>A, XM_011543139.1:c.307G>A, NM_001323020.2:c.325G>A, NM_001323020.1:c.325G>A, NM_001323018.2:c.325G>A, NM_001323018.1:c.325G>A, NM_001323019.2:c.403G>A, NM_001323019.1:c.403G>A, NM_001323022.1:c.-54G>A, NP_714917.2:p.Gly135Arg, XP_011541442.1:p.Gly59Arg, NP_001165461.1:p.Gly135Arg, XP_011541441.1:p.Gly103Arg, NP_001309949.1:p.Gly109Arg, NP_001309947.1:p.Gly109Arg, NP_001309948.1:p.Gly135Arg

Select item 14807912894.

rs1480791289 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 5:56917291 (GRCh38)
5:56213118 (GRCh37)
Canonical SPDI:: NC_000005.10:56917290:A:T
Gene:: SETD9 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000671/3 (ALFA)
T=0.000021/3 (GnomAD)
T=0.00067/3 (Estonian)
HGVS:: NC_000005.10:g.56917291A>T, NC_000005.9:g.56213118A>T, XM_005248426.5:c.*389A>T, XM_005248426.4:c.*389A>T, XM_005248426.3:c.*389A>T, NM_153706.4:c.*389A>T, NM_153706.3:c.*389A>T, XM_011543140.4:c.*389A>T, XM_011543140.3:c.*389A>T, XM_011543140.2:c.*389A>T, XM_011543140.1:c.*389A>T, XM_011543139.3:c.*389A>T, XM_011543139.2:c.*389A>T, XM_011543139.1:c.*389A>T, NM_001323018.2:c.*389A>T, NM_001323018.1:c.*389A>T, NR_136556.2:n.971A>T, NR_136556.1:n.1307A>T, NM_001323022.1:c.*389A>T, NR_136557.1:n.1156A>T

Select item 14798912335.

rs1479891233 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 5:56917053 (GRCh38)
5:56212880 (GRCh37)
Canonical SPDI:: NC_000005.10:56917051:TAT:T
Gene:: SETD9 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
HGVS:: NC_000005.10:g.56917053_56917054del, NC_000005.9:g.56212880_56212881del, XM_005248426.5:c.*151_*152del, XM_005248426.4:c.*151_*152del, XM_005248426.3:c.*151_*152del, XM_005248426.2:c.*151_*152del, XM_005248426.1:c.*151_*152del, NM_153706.4:c.*151_*152del, NM_153706.3:c.*151_*152del, XM_011543140.4:c.*151_*152del, XM_011543140.3:c.*151_*152del, XM_011543140.2:c.*151_*152del, XM_011543140.1:c.*151_*152del, XM_011543139.3:c.*151_*152del, XM_011543139.2:c.*151_*152del, XM_011543139.1:c.*151_*152del, NM_001323018.2:c.*151_*152del, NM_001323018.1:c.*151_*152del, NR_136556.2:n.733_734del, NR_136556.1:n.1069_1070del, NM_001323022.1:c.*151_*152del, NR_136557.1:n.918_919del

Select item 14763345266.

rs1476334526 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTA>- [Show Flanks]
Chromosome:: 5:56916922 (GRCh38)
5:56212749 (GRCh37)
Canonical SPDI:: NC_000005.10:56916917:ATTATTA:ATTA
Gene:: SETD9 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATTA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.56916919TTA[1], NC_000005.9:g.56212746TTA[1], XM_005248426.5:c.*17TTA[1], XM_005248426.4:c.*17TTA[1], XM_005248426.3:c.*17TTA[1], XM_005248426.2:c.*17TTA[1], XM_005248426.1:c.*17TTA[1], NM_153706.4:c.*17TTA[1], NM_153706.3:c.*17TTA[1], XM_011543140.4:c.*17TTA[1], XM_011543140.3:c.*17TTA[1], XM_011543140.2:c.*17TTA[1], XM_011543140.1:c.*17TTA[1], XM_011543139.3:c.*17TTA[1], XM_011543139.2:c.*17TTA[1], XM_011543139.1:c.*17TTA[1], NM_001323018.2:c.*17TTA[1], NM_001323018.1:c.*17TTA[1], NR_136556.2:n.599TTA[1], NR_136556.1:n.935TTA[1], NM_001323022.1:c.*17TTA[1], NR_136557.1:n.784TTA[1]

Select item 14718680287.

rs1471868028 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:56917307 (GRCh38)
5:56213134 (GRCh37)
Canonical SPDI:: NC_000005.10:56917306:C:T
Gene:: SETD9 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000026/7 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000005.10:g.56917307C>T, NC_000005.9:g.56213134C>T, XM_005248426.5:c.*405C>T, XM_005248426.4:c.*405C>T, XM_005248426.3:c.*405C>T, NM_153706.4:c.*405C>T, NM_153706.3:c.*405C>T, XM_011543140.4:c.*405C>T, XM_011543140.3:c.*405C>T, XM_011543140.2:c.*405C>T, XM_011543140.1:c.*405C>T, XM_011543139.3:c.*405C>T, XM_011543139.2:c.*405C>T, XM_011543139.1:c.*405C>T, NM_001323018.2:c.*405C>T, NM_001323018.1:c.*405C>T, NR_136556.2:n.987C>T, NR_136556.1:n.1323C>T, NM_001323022.1:c.*405C>T, NR_136557.1:n.1172C>T

Select item 14689613668.

rs1468961366 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 5:56913115 (GRCh38)
5:56208942 (GRCh37)
Canonical SPDI:: NC_000005.10:56913114:A:C
Gene:: SETD9 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.56913115A>C, NC_000005.9:g.56208942A>C, XM_005248426.5:c.139A>C, XM_005248426.4:c.139A>C, XM_005248426.3:c.139A>C, XM_005248426.2:c.139A>C, XM_005248426.1:c.139A>C, NM_153706.4:c.571A>C, NM_153706.3:c.571A>C, XM_011543140.4:c.343A>C, XM_011543140.3:c.343A>C, XM_011543140.2:c.343A>C, XM_011543140.1:c.343A>C, NM_001171990.3:c.571A>C, NM_001171990.2:c.571A>C, NM_001171990.1:c.571A>C, XM_011543139.3:c.475A>C, XM_011543139.2:c.475A>C, XM_011543139.1:c.475A>C, NR_136555.2:n.253A>C, NR_136555.1:n.589A>C, NM_001323020.2:c.493A>C, NM_001323020.1:c.493A>C, NM_001323018.2:c.493A>C, NM_001323018.1:c.493A>C, NM_001323019.2:c.571A>C, NM_001323019.1:c.571A>C, NR_136556.2:n.253A>C, NR_136556.1:n.589A>C, NR_136558.2:n.253A>C, NR_136558.1:n.589A>C, NM_001323022.1:c.115A>C, NR_136557.1:n.438A>C, XP_005248483.1:p.Ile47Leu, NP_714917.2:p.Ile191Leu, XP_011541442.1:p.Ile115Leu, NP_001165461.1:p.Ile191Leu, XP_011541441.1:p.Ile159Leu, NP_001309949.1:p.Ile165Leu, NP_001309947.1:p.Ile165Leu, NP_001309948.1:p.Ile191Leu, NP_001309951.1:p.Ile39Leu

Select item 14660012159.

rs1466001215 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:56909274 (GRCh38)
5:56205101 (GRCh37)
Canonical SPDI:: NC_000005.10:56909273:G:C
Gene:: SETD9 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.56909274G>C, NC_000005.9:g.56205101G>C, NM_153706.3:c.-372G>C, NM_001171990.2:c.-372G>C, NR_136555.1:n.15G>C, NM_001323019.1:c.-372G>C, NM_001171990.1:c.-372G>C, NR_136556.1:n.15G>C, NM_001323022.1:c.-405G>C, NR_136558.1:n.15G>C

Select item 146281360310.

rs1462813603 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 5:56911346 (GRCh38)
5:56207173 (GRCh37)
Canonical SPDI:: NC_000005.10:56911345:T:G
Gene:: SETD9 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.56911346T>G, NC_000005.9:g.56207173T>G, XM_005248426.5:c.-879T>G, NM_153706.4:c.276T>G, NM_153706.3:c.276T>G, XM_011543140.4:c.48T>G, XM_011543140.3:c.48T>G, XM_011543140.2:c.48T>G, XM_011543140.1:c.48T>G, NM_001171990.3:c.276T>G, NM_001171990.2:c.276T>G, NM_001171990.1:c.276T>G, XM_011543139.3:c.180T>G, XM_011543139.2:c.180T>G, XM_011543139.1:c.180T>G, NM_001323020.2:c.198T>G, NM_001323020.1:c.198T>G, NM_001323018.2:c.198T>G, NM_001323018.1:c.198T>G, NM_001323019.2:c.276T>G, NM_001323019.1:c.276T>G, NM_001323022.1:c.-181T>G

Select item 146213952311.

rs1462139523 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:56917246 (GRCh38)
5:56213073 (GRCh37)
Canonical SPDI:: NC_000005.10:56917245:G:A
Gene:: SETD9 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000042/11 (TOPMED)
HGVS:: NC_000005.10:g.56917246G>A, NC_000005.9:g.56213073G>A, XM_005248426.5:c.*344G>A, XM_005248426.4:c.*344G>A, XM_005248426.3:c.*344G>A, NM_153706.4:c.*344G>A, NM_153706.3:c.*344G>A, XM_011543140.4:c.*344G>A, XM_011543140.3:c.*344G>A, XM_011543140.2:c.*344G>A, XM_011543140.1:c.*344G>A, XM_011543139.3:c.*344G>A, XM_011543139.2:c.*344G>A, XM_011543139.1:c.*344G>A, NM_001323018.2:c.*344G>A, NM_001323018.1:c.*344G>A, NR_136556.2:n.926G>A, NR_136556.1:n.1262G>A, NM_001323022.1:c.*344G>A, NR_136557.1:n.1111G>A

Select item 146111356812.

rs1461113568 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:56917334 (GRCh38)
5:56213161 (GRCh37)
Canonical SPDI:: NC_000005.10:56917333:G:A
Gene:: SETD9 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000034/9 (TOPMED)
HGVS:: NC_000005.10:g.56917334G>A, NC_000005.9:g.56213161G>A, XM_005248426.5:c.*432G>A, XM_005248426.4:c.*432G>A, XM_005248426.3:c.*432G>A, NM_153706.4:c.*432G>A, NM_153706.3:c.*432G>A, XM_011543140.4:c.*432G>A, XM_011543140.3:c.*432G>A, XM_011543140.2:c.*432G>A, XM_011543140.1:c.*432G>A, XM_011543139.3:c.*432G>A, XM_011543139.2:c.*432G>A, XM_011543139.1:c.*432G>A, NM_001323018.2:c.*432G>A, NM_001323018.1:c.*432G>A, NR_136556.2:n.1014G>A, NR_136556.1:n.1350G>A, NM_001323022.1:c.*432G>A, NR_136557.1:n.1199G>A

Select item 145624896313.

rs1456248963 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:56913028 (GRCh38)
5:56208855 (GRCh37)
Canonical SPDI:: NC_000005.10:56913027:T:C
Gene:: SETD9 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.56913028T>C, NC_000005.9:g.56208855T>C, XM_005248426.5:c.52T>C, XM_005248426.4:c.52T>C, XM_005248426.3:c.52T>C, XM_005248426.2:c.52T>C, XM_005248426.1:c.52T>C, NM_153706.4:c.484T>C, NM_153706.3:c.484T>C, XM_011543140.4:c.256T>C, XM_011543140.3:c.256T>C, XM_011543140.2:c.256T>C, XM_011543140.1:c.256T>C, NM_001171990.3:c.484T>C, NM_001171990.2:c.484T>C, NM_001171990.1:c.484T>C, XM_011543139.3:c.388T>C, XM_011543139.2:c.388T>C, XM_011543139.1:c.388T>C, NR_136555.2:n.166T>C, NR_136555.1:n.502T>C, NM_001323020.2:c.406T>C, NM_001323020.1:c.406T>C, NM_001323018.2:c.406T>C, NM_001323018.1:c.406T>C, NM_001323019.2:c.484T>C, NM_001323019.1:c.484T>C, NR_136556.2:n.166T>C, NR_136556.1:n.502T>C, NR_136558.2:n.166T>C, NR_136558.1:n.502T>C, NM_001323022.1:c.28T>C, NR_136557.1:n.351T>C, XP_005248483.1:p.Tyr18His, NP_714917.2:p.Tyr162His, XP_011541442.1:p.Tyr86His, NP_001165461.1:p.Tyr162His, XP_011541441.1:p.Tyr130His, NP_001309949.1:p.Tyr136His, NP_001309947.1:p.Tyr136His, NP_001309948.1:p.Tyr162His, NP_001309951.1:p.Tyr10His

Select item 145614971814.

rs1456149718 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 5:56916977 (GRCh38)
5:56212804 (GRCh37)
Canonical SPDI:: NC_000005.10:56916976:A:C
Gene:: SETD9 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.56916977A>C, NC_000005.9:g.56212804A>C, XM_005248426.5:c.*75A>C, XM_005248426.4:c.*75A>C, XM_005248426.3:c.*75A>C, XM_005248426.2:c.*75A>C, XM_005248426.1:c.*75A>C, NM_153706.4:c.*75A>C, NM_153706.3:c.*75A>C, XM_011543140.4:c.*75A>C, XM_011543140.3:c.*75A>C, XM_011543140.2:c.*75A>C, XM_011543140.1:c.*75A>C, XM_011543139.3:c.*75A>C, XM_011543139.2:c.*75A>C, XM_011543139.1:c.*75A>C, NM_001323018.2:c.*75A>C, NM_001323018.1:c.*75A>C, NR_136556.2:n.657A>C, NR_136556.1:n.993A>C, NM_001323022.1:c.*75A>C, NR_136557.1:n.842A>C

Select item 145474474715.

rs1454744747 [Homo sapiens]

Variant type:: DELINS
Alleles:: TAT>-,TATTAT [Show Flanks]
Chromosome:: 5:56917046 (GRCh38)
5:56212873 (GRCh37)
Canonical SPDI:: NC_000005.10:56917042:TATTAT:TAT,NC_000005.10:56917042:TATTAT:TATTATTAT
Gene:: SETD9 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATTATTAT=0./0 (ALFA)
-=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.56917043TAT[1], NC_000005.10:g.56917043TAT[3], NC_000005.9:g.56212870TAT[1], NC_000005.9:g.56212870TAT[3], XM_005248426.5:c.*141TAT[1], XM_005248426.5:c.*141TAT[3], XM_005248426.4:c.*141TAT[1], XM_005248426.4:c.*141TAT[3], XM_005248426.3:c.*141TAT[1], XM_005248426.3:c.*141TAT[3], XM_005248426.2:c.*141TAT[1], XM_005248426.2:c.*141TAT[3], XM_005248426.1:c.*141TAT[1], XM_005248426.1:c.*141TAT[3], NM_153706.4:c.*141TAT[1], NM_153706.4:c.*141TAT[3], NM_153706.3:c.*141TAT[1], NM_153706.3:c.*141TAT[3], XM_011543140.4:c.*141TAT[1], XM_011543140.4:c.*141TAT[3], XM_011543140.3:c.*141TAT[1], XM_011543140.3:c.*141TAT[3], XM_011543140.2:c.*141TAT[1], XM_011543140.2:c.*141TAT[3], XM_011543140.1:c.*141TAT[1], XM_011543140.1:c.*141TAT[3], XM_011543139.3:c.*141TAT[1], XM_011543139.3:c.*141TAT[3], XM_011543139.2:c.*141TAT[1], XM_011543139.2:c.*141TAT[3], XM_011543139.1:c.*141TAT[1], XM_011543139.1:c.*141TAT[3], NM_001323018.2:c.*141TAT[1], NM_001323018.2:c.*141TAT[3], NM_001323018.1:c.*141TAT[1], NM_001323018.1:c.*141TAT[3], NR_136556.2:n.723TAT[1], NR_136556.2:n.723TAT[3], NR_136556.1:n.1059TAT[1], NR_136556.1:n.1059TAT[3], NM_001323022.1:c.*141TAT[1], NM_001323022.1:c.*141TAT[3], NR_136557.1:n.908TAT[1], NR_136557.1:n.908TAT[3]

Select item 145214057516.

rs1452140575 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 5:56911416 (GRCh38)
5:56207243 (GRCh37)
Canonical SPDI:: NC_000005.10:56911415:C:A
Gene:: SETD9 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant,5_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)
A=0.000177/3 (TOMMO)
HGVS:: NC_000005.10:g.56911416C>A, NC_000005.9:g.56207243C>A, XM_005248426.5:c.-809C>A, NM_153706.4:c.346C>A, NM_153706.3:c.346C>A, XM_011543140.4:c.118C>A, XM_011543140.3:c.118C>A, XM_011543140.2:c.118C>A, XM_011543140.1:c.118C>A, NM_001171990.3:c.346C>A, NM_001171990.2:c.346C>A, NM_001171990.1:c.346C>A, XM_011543139.3:c.250C>A, XM_011543139.2:c.250C>A, XM_011543139.1:c.250C>A, NM_001323020.2:c.268C>A, NM_001323020.1:c.268C>A, NM_001323018.2:c.268C>A, NM_001323018.1:c.268C>A, NM_001323019.2:c.346C>A, NM_001323019.1:c.346C>A, NM_001323022.1:c.-111C>A, NP_714917.2:p.Leu116Ile, XP_011541442.1:p.Leu40Ile, NP_001165461.1:p.Leu116Ile, XP_011541441.1:p.Leu84Ile, NP_001309949.1:p.Leu90Ile, NP_001309947.1:p.Leu90Ile, NP_001309948.1:p.Leu116Ile

Select item 144750863917.

rs1447508639 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:56916852 (GRCh38)
5:56212679 (GRCh37)
Canonical SPDI:: NC_000005.10:56916851:A:G
Gene:: SETD9 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
A=0.5/1 (SGDP_PRJ)
HGVS:: NC_000005.10:g.56916852A>G, NC_000005.9:g.56212679A>G, XM_005248426.5:c.418A>G, XM_005248426.4:c.418A>G, XM_005248426.3:c.418A>G, XM_005248426.2:c.418A>G, XM_005248426.1:c.418A>G, NM_153706.4:c.850A>G, NM_153706.3:c.850A>G, XM_011543140.4:c.622A>G, XM_011543140.3:c.622A>G, XM_011543140.2:c.622A>G, XM_011543140.1:c.622A>G, XM_011543139.3:c.754A>G, XM_011543139.2:c.754A>G, XM_011543139.1:c.754A>G, NM_001323018.2:c.772A>G, NM_001323018.1:c.772A>G, NR_136556.2:n.532A>G, NR_136556.1:n.868A>G, NM_001323022.1:c.394A>G, NR_136557.1:n.717A>G, XP_005248483.1:p.Ile140Val, NP_714917.2:p.Ile284Val, XP_011541442.1:p.Ile208Val, XP_011541441.1:p.Ile252Val, NP_001309947.1:p.Ile258Val, NP_001309951.1:p.Ile132Val

Select item 144662413518.

rs1446624135 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 5:56909301 (GRCh38)
5:56205128 (GRCh37)
Canonical SPDI:: NC_000005.10:56909300:C:G
Gene:: SETD9 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000026/7 (TOPMED)
HGVS:: NC_000005.10:g.56909301C>G, NC_000005.9:g.56205128C>G, NM_153706.3:c.-345C>G, NM_001171990.2:c.-345C>G, NR_136555.1:n.42C>G, NM_001323019.1:c.-345C>G, NM_001171990.1:c.-345C>G, NR_136556.1:n.42C>G, NM_001323022.1:c.-378C>G, NR_136558.1:n.42C>G

Select item 144363515119.

rs1443635151 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:56916861 (GRCh38)
5:56212688 (GRCh37)
Canonical SPDI:: NC_000005.10:56916860:G:A
Gene:: SETD9 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000005.10:g.56916861G>A, NC_000005.9:g.56212688G>A, XM_005248426.5:c.427G>A, XM_005248426.4:c.427G>A, XM_005248426.3:c.427G>A, XM_005248426.2:c.427G>A, XM_005248426.1:c.427G>A, NM_153706.4:c.859G>A, NM_153706.3:c.859G>A, XM_011543140.4:c.631G>A, XM_011543140.3:c.631G>A, XM_011543140.2:c.631G>A, XM_011543140.1:c.631G>A, XM_011543139.3:c.763G>A, XM_011543139.2:c.763G>A, XM_011543139.1:c.763G>A, NM_001323018.2:c.781G>A, NM_001323018.1:c.781G>A, NR_136556.2:n.541G>A, NR_136556.1:n.877G>A, NM_001323022.1:c.403G>A, NR_136557.1:n.726G>A, XP_005248483.1:p.Gly143Arg, NP_714917.2:p.Gly287Arg, XP_011541442.1:p.Gly211Arg, XP_011541441.1:p.Gly255Arg, NP_001309947.1:p.Gly261Arg, NP_001309951.1:p.Gly135Arg

Select item 143780110220.

rs1437801102 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:56911527 (GRCh38)
5:56207354 (GRCh37)
Canonical SPDI:: NC_000005.10:56911526:A:G
Gene:: SETD9 (Varview)
Functional Consequence:: missense_variant,intron_variant,5_prime_UTR_variant,coding_sequence_variant,initiator_codon_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_000005.10:g.56911527A>G, NC_000005.9:g.56207354A>G, XM_005248426.5:c.-698A>G, NM_153706.4:c.457A>G, NM_153706.3:c.457A>G, XM_011543140.4:c.229A>G, XM_011543140.3:c.229A>G, XM_011543140.2:c.229A>G, XM_011543140.1:c.229A>G, NM_001171990.3:c.457A>G, NM_001171990.2:c.457A>G, NM_001171990.1:c.457A>G, XM_011543139.3:c.361A>G, XM_011543139.2:c.361A>G, XM_011543139.1:c.361A>G, NM_001323020.2:c.379A>G, NM_001323020.1:c.379A>G, NM_001323018.2:c.379A>G, NM_001323018.1:c.379A>G, NM_001323019.2:c.457A>G, NM_001323019.1:c.457A>G, NM_001323022.1:c.1A>G, NP_714917.2:p.Met153Val, XP_011541442.1:p.Met77Val, NP_001165461.1:p.Met153Val, XP_011541441.1:p.Met121Val, NP_001309949.1:p.Met127Val, NP_001309947.1:p.Met127Val, NP_001309948.1:p.Met153Val, NP_001309951.1:p.Met1Val

dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Nucleotide

Items: 1 to 20 of 344

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity

dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Links from Nucleotide

Items: 1 to 20 of 344

Page of 18

Page of 18

Display Settings:

Supplemental Content

Find related data

Recent activity