SNP Links for Nucleotide (Select 1008806469) - SNP - NCBI

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Select item 14913465551.

rs1491346555 has merged into rs761001044 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGTGTGTGTGTGTGTGTGTGTGTG>-,TGTGTGTGTGTG,TGTGTGTGTGTGTG,TGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG [Show Flanks]
Chromosome:: 17:45024316 (GRCh38)
17:43101684 (GRCh37)
Canonical SPDI:: NC_000017.11:45024286:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000017.11:45024286:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000017.11:45024286:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000017.11:45024286:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000017.11:45024286:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000017.11:45024286:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000017.11:45024286:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000017.11:45024286:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000017.11:45024286:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000017.11:45024286:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000017.11:45024286:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000017.11:45024286:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
Gene:: DCAKD (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0./0 (ALFA)
-=0.00004/1 (TOMMO)
-=0.1959/755 (ALSPAC)
HGVS:: NC_000017.11:g.45024288TG[14], NC_000017.11:g.45024288TG[20], NC_000017.11:g.45024288TG[21], NC_000017.11:g.45024288TG[22], NC_000017.11:g.45024288TG[23], NC_000017.11:g.45024288TG[27], NC_000017.11:g.45024288TG[28], NC_000017.11:g.45024288TG[29], NC_000017.11:g.45024288TG[30], NC_000017.11:g.45024288TG[31], NC_000017.11:g.45024288TG[32], NC_000017.11:g.45024288TG[33], NC_000017.10:g.43101656TG[14], NC_000017.10:g.43101656TG[20], NC_000017.10:g.43101656TG[21], NC_000017.10:g.43101656TG[22], NC_000017.10:g.43101656TG[23], NC_000017.10:g.43101656TG[27], NC_000017.10:g.43101656TG[28], NC_000017.10:g.43101656TG[29], NC_000017.10:g.43101656TG[30], NC_000017.10:g.43101656TG[31], NC_000017.10:g.43101656TG[32], NC_000017.10:g.43101656TG[33], NM_024819.7:c.*95AC[14], NM_024819.7:c.*95AC[20], NM_024819.7:c.*95AC[21], NM_024819.7:c.*95AC[22], NM_024819.7:c.*95AC[23], NM_024819.7:c.*95AC[27], NM_024819.7:c.*95AC[28], NM_024819.7:c.*95AC[29], NM_024819.7:c.*95AC[30], NM_024819.7:c.*95AC[31], NM_024819.7:c.*95AC[32], NM_024819.7:c.*95AC[33], NM_024819.6:c.*95AC[14], NM_024819.6:c.*95AC[20], NM_024819.6:c.*95AC[21], NM_024819.6:c.*95AC[22], NM_024819.6:c.*95AC[23], NM_024819.6:c.*95AC[27], NM_024819.6:c.*95AC[28], NM_024819.6:c.*95AC[29], NM_024819.6:c.*95AC[30], NM_024819.6:c.*95AC[31], NM_024819.6:c.*95AC[32], NM_024819.6:c.*95AC[33], NM_024819.5:c.*95AC[14], NM_024819.5:c.*95AC[20], NM_024819.5:c.*95AC[21], NM_024819.5:c.*95AC[22], NM_024819.5:c.*95AC[23], NM_024819.5:c.*95AC[27], NM_024819.5:c.*95AC[28], NM_024819.5:c.*95AC[29], NM_024819.5:c.*95AC[30], NM_024819.5:c.*95AC[31], NM_024819.5:c.*95AC[32], NM_024819.5:c.*95AC[33], NM_024819.4:c.*95AC[14], NM_024819.4:c.*95AC[20], NM_024819.4:c.*95AC[21], NM_024819.4:c.*95AC[22], NM_024819.4:c.*95AC[23], NM_024819.4:c.*95AC[27], NM_024819.4:c.*95AC[28], NM_024819.4:c.*95AC[29], NM_024819.4:c.*95AC[30], NM_024819.4:c.*95AC[31], NM_024819.4:c.*95AC[32], NM_024819.4:c.*95AC[33], XM_011525262.3:c.*95AC[14], XM_011525262.3:c.*95AC[20], XM_011525262.3:c.*95AC[21], XM_011525262.3:c.*95AC[22], XM_011525262.3:c.*95AC[23], XM_011525262.3:c.*95AC[27], XM_011525262.3:c.*95AC[28], XM_011525262.3:c.*95AC[29], XM_011525262.3:c.*95AC[30], XM_011525262.3:c.*95AC[31], XM_011525262.3:c.*95AC[32], XM_011525262.3:c.*95AC[33], XM_011525262.2:c.*95AC[14], XM_011525262.2:c.*95AC[20], XM_011525262.2:c.*95AC[21], XM_011525262.2:c.*95AC[22], XM_011525262.2:c.*95AC[23], XM_011525262.2:c.*95AC[27], XM_011525262.2:c.*95AC[28], XM_011525262.2:c.*95AC[29], XM_011525262.2:c.*95AC[30], XM_011525262.2:c.*95AC[31], XM_011525262.2:c.*95AC[32], XM_011525262.2:c.*95AC[33], XM_011525262.1:c.*95AC[14], XM_011525262.1:c.*95AC[20], XM_011525262.1:c.*95AC[21], XM_011525262.1:c.*95AC[22], XM_011525262.1:c.*95AC[23], XM_011525262.1:c.*95AC[27], XM_011525262.1:c.*95AC[28], XM_011525262.1:c.*95AC[29], XM_011525262.1:c.*95AC[30], XM_011525262.1:c.*95AC[31], XM_011525262.1:c.*95AC[32], XM_011525262.1:c.*95AC[33], NM_001128631.3:c.*95AC[14], NM_001128631.3:c.*95AC[20], NM_001128631.3:c.*95AC[21], NM_001128631.3:c.*95AC[22], NM_001128631.3:c.*95AC[23], NM_001128631.3:c.*95AC[27], NM_001128631.3:c.*95AC[28], NM_001128631.3:c.*95AC[29], NM_001128631.3:c.*95AC[30], NM_001128631.3:c.*95AC[31], NM_001128631.3:c.*95AC[32], NM_001128631.3:c.*95AC[33], NM_001128631.2:c.*95AC[14], NM_001128631.2:c.*95AC[20], NM_001128631.2:c.*95AC[21], NM_001128631.2:c.*95AC[22], NM_001128631.2:c.*95AC[23], NM_001128631.2:c.*95AC[27], NM_001128631.2:c.*95AC[28], NM_001128631.2:c.*95AC[29], NM_001128631.2:c.*95AC[30], NM_001128631.2:c.*95AC[31], NM_001128631.2:c.*95AC[32], NM_001128631.2:c.*95AC[33], NM_001128631.1:c.*95AC[14], NM_001128631.1:c.*95AC[20], NM_001128631.1:c.*95AC[21], NM_001128631.1:c.*95AC[22], NM_001128631.1:c.*95AC[23], NM_001128631.1:c.*95AC[27], NM_001128631.1:c.*95AC[28], NM_001128631.1:c.*95AC[29], NM_001128631.1:c.*95AC[30], NM_001128631.1:c.*95AC[31], NM_001128631.1:c.*95AC[32], NM_001128631.1:c.*95AC[33], NM_001288655.2:c.*95AC[14], NM_001288655.2:c.*95AC[20], NM_001288655.2:c.*95AC[21], NM_001288655.2:c.*95AC[22], NM_001288655.2:c.*95AC[23], NM_001288655.2:c.*95AC[27], NM_001288655.2:c.*95AC[28], NM_001288655.2:c.*95AC[29], NM_001288655.2:c.*95AC[30], NM_001288655.2:c.*95AC[31], NM_001288655.2:c.*95AC[32], NM_001288655.2:c.*95AC[33], NM_001288655.1:c.*95AC[14], NM_001288655.1:c.*95AC[20], NM_001288655.1:c.*95AC[21], NM_001288655.1:c.*95AC[22], NM_001288655.1:c.*95AC[23], NM_001288655.1:c.*95AC[27], NM_001288655.1:c.*95AC[28], NM_001288655.1:c.*95AC[29], NM_001288655.1:c.*95AC[30], NM_001288655.1:c.*95AC[31], NM_001288655.1:c.*95AC[32], NM_001288655.1:c.*95AC[33], NM_001288654.2:c.*95AC[14], NM_001288654.2:c.*95AC[20], NM_001288654.2:c.*95AC[21], NM_001288654.2:c.*95AC[22], NM_001288654.2:c.*95AC[23], NM_001288654.2:c.*95AC[27], NM_001288654.2:c.*95AC[28], NM_001288654.2:c.*95AC[29], NM_001288654.2:c.*95AC[30], NM_001288654.2:c.*95AC[31], NM_001288654.2:c.*95AC[32], NM_001288654.2:c.*95AC[33], NM_001288654.1:c.*95AC[14], NM_001288654.1:c.*95AC[20], NM_001288654.1:c.*95AC[21], NM_001288654.1:c.*95AC[22], NM_001288654.1:c.*95AC[23], NM_001288654.1:c.*95AC[27], NM_001288654.1:c.*95AC[28], NM_001288654.1:c.*95AC[29], NM_001288654.1:c.*95AC[30], NM_001288654.1:c.*95AC[31], NM_001288654.1:c.*95AC[32], NM_001288654.1:c.*95AC[33], NM_001321326.2:c.*95AC[14], NM_001321326.2:c.*95AC[20], NM_001321326.2:c.*95AC[21], NM_001321326.2:c.*95AC[22], NM_001321326.2:c.*95AC[23], NM_001321326.2:c.*95AC[27], NM_001321326.2:c.*95AC[28], NM_001321326.2:c.*95AC[29], NM_001321326.2:c.*95AC[30], NM_001321326.2:c.*95AC[31], NM_001321326.2:c.*95AC[32], NM_001321326.2:c.*95AC[33], NM_001321326.1:c.*95AC[14], NM_001321326.1:c.*95AC[20], NM_001321326.1:c.*95AC[21], NM_001321326.1:c.*95AC[22], NM_001321326.1:c.*95AC[23], NM_001321326.1:c.*95AC[27], NM_001321326.1:c.*95AC[28], NM_001321326.1:c.*95AC[29], NM_001321326.1:c.*95AC[30], NM_001321326.1:c.*95AC[31], NM_001321326.1:c.*95AC[32], NM_001321326.1:c.*95AC[33]

Select item 14913016312.

rs1491301631 [Homo sapiens]

Variant type:: DEL
Alleles:: CG>- [Show Flanks]
Chromosome:: 17:45024286 (GRCh38)
17:43101654 (GRCh37)
Canonical SPDI:: NC_000017.11:45024285:CG:
Gene:: DCAKD (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by cluster
MAF:: -=0.000166/20 (GnomAD)
-=0.000937/6 (1000Genomes)
-=0.003398/57 (TOMMO)
-=0.004376/8 (Korea1K)
HGVS:: NC_000017.11:g.45024286_45024287del, NC_000017.10:g.43101654_43101655del, NM_024819.7:c.*146_*147del, NM_024819.6:c.*146_*147del, NM_024819.5:c.*146_*147del, NM_024819.4:c.*146_*147del, XM_011525262.3:c.*146_*147del, XM_011525262.2:c.*146_*147del, XM_011525262.1:c.*146_*147del, NM_001128631.3:c.*146_*147del, NM_001128631.2:c.*146_*147del, NM_001128631.1:c.*146_*147del, NM_001288655.2:c.*146_*147del, NM_001288655.1:c.*146_*147del, NM_001288654.2:c.*146_*147del, NM_001288654.1:c.*146_*147del, NM_001321326.2:c.*146_*147del, NM_001321326.1:c.*146_*147del

Select item 14910585693.

rs1491058569 has merged into rs67338318 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:45023615 (GRCh38)
17:43100983 (GRCh37)
Canonical SPDI:: NC_000017.11:45023603:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:45023603:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:45023603:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:45023603:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:45023603:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:45023603:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:45023603:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:45023603:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:45023603:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:45023603:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:45023603:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:45023603:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:45023603:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:45023603:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:45023603:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:45023603:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:45023603:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:45023603:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:45023603:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: DCAKD (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000017.11:g.45023615_45023626del, NC_000017.11:g.45023616_45023626del, NC_000017.11:g.45023617_45023626del, NC_000017.11:g.45023618_45023626del, NC_000017.11:g.45023619_45023626del, NC_000017.11:g.45023620_45023626del, NC_000017.11:g.45023621_45023626del, NC_000017.11:g.45023622_45023626del, NC_000017.11:g.45023623_45023626del, NC_000017.11:g.45023624_45023626del, NC_000017.11:g.45023625_45023626del, NC_000017.11:g.45023626del, NC_000017.11:g.45023626dup, NC_000017.11:g.45023625_45023626dup, NC_000017.11:g.45023624_45023626dup, NC_000017.11:g.45023623_45023626dup, NC_000017.11:g.45023622_45023626dup, NC_000017.11:g.45023621_45023626dup, NC_000017.11:g.45023626_45023627insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.43100983_43100994del, NC_000017.10:g.43100984_43100994del, NC_000017.10:g.43100985_43100994del, NC_000017.10:g.43100986_43100994del, NC_000017.10:g.43100987_43100994del, NC_000017.10:g.43100988_43100994del, NC_000017.10:g.43100989_43100994del, NC_000017.10:g.43100990_43100994del, NC_000017.10:g.43100991_43100994del, NC_000017.10:g.43100992_43100994del, NC_000017.10:g.43100993_43100994del, NC_000017.10:g.43100994del, NC_000017.10:g.43100994dup, NC_000017.10:g.43100993_43100994dup, NC_000017.10:g.43100992_43100994dup, NC_000017.10:g.43100991_43100994dup, NC_000017.10:g.43100990_43100994dup, NC_000017.10:g.43100989_43100994dup, NC_000017.10:g.43100994_43100995insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NM_024819.7:c.*818_*829del, NM_024819.7:c.*819_*829del, NM_024819.7:c.*820_*829del, NM_024819.7:c.*821_*829del, NM_024819.7:c.*822_*829del, NM_024819.7:c.*823_*829del, NM_024819.7:c.*824_*829del, NM_024819.7:c.*825_*829del, NM_024819.7:c.*826_*829del, NM_024819.7:c.*827_*829del, NM_024819.7:c.*828_*829del, NM_024819.7:c.*829del, NM_024819.7:c.*829dup, NM_024819.7:c.*828_*829dup, NM_024819.7:c.*827_*829dup, NM_024819.7:c.*826_*829dup, NM_024819.7:c.*825_*829dup, NM_024819.7:c.*824_*829dup, NM_024819.7:c.*829_*830insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_024819.6:c.*818_*829del, NM_024819.6:c.*819_*829del, NM_024819.6:c.*820_*829del, NM_024819.6:c.*821_*829del, NM_024819.6:c.*822_*829del, NM_024819.6:c.*823_*829del, NM_024819.6:c.*824_*829del, NM_024819.6:c.*825_*829del, NM_024819.6:c.*826_*829del, NM_024819.6:c.*827_*829del, NM_024819.6:c.*828_*829del, NM_024819.6:c.*829del, NM_024819.6:c.*829dup, NM_024819.6:c.*828_*829dup, NM_024819.6:c.*827_*829dup, NM_024819.6:c.*826_*829dup, NM_024819.6:c.*825_*829dup, NM_024819.6:c.*824_*829dup, NM_024819.6:c.*829_*830insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_024819.5:c.*818_*829del, NM_024819.5:c.*819_*829del, NM_024819.5:c.*820_*829del, NM_024819.5:c.*821_*829del, NM_024819.5:c.*822_*829del, NM_024819.5:c.*823_*829del, NM_024819.5:c.*824_*829del, NM_024819.5:c.*825_*829del, NM_024819.5:c.*826_*829del, NM_024819.5:c.*827_*829del, NM_024819.5:c.*828_*829del, NM_024819.5:c.*829del, NM_024819.5:c.*829dup, NM_024819.5:c.*828_*829dup, NM_024819.5:c.*827_*829dup, NM_024819.5:c.*826_*829dup, NM_024819.5:c.*825_*829dup, NM_024819.5:c.*824_*829dup, NM_024819.5:c.*829_*830insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_024819.4:c.*818_*829del, NM_024819.4:c.*819_*829del, NM_024819.4:c.*820_*829del, NM_024819.4:c.*821_*829del, NM_024819.4:c.*822_*829del, NM_024819.4:c.*823_*829del, NM_024819.4:c.*824_*829del, NM_024819.4:c.*825_*829del, NM_024819.4:c.*826_*829del, NM_024819.4:c.*827_*829del, NM_024819.4:c.*828_*829del, NM_024819.4:c.*829del, NM_024819.4:c.*829dup, NM_024819.4:c.*828_*829dup, NM_024819.4:c.*827_*829dup, NM_024819.4:c.*826_*829dup, NM_024819.4:c.*825_*829dup, NM_024819.4:c.*824_*829dup, NM_024819.4:c.*829_*830insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_011525262.3:c.*818_*829del, XM_011525262.3:c.*819_*829del, XM_011525262.3:c.*820_*829del, XM_011525262.3:c.*821_*829del, XM_011525262.3:c.*822_*829del, XM_011525262.3:c.*823_*829del, XM_011525262.3:c.*824_*829del, XM_011525262.3:c.*825_*829del, XM_011525262.3:c.*826_*829del, XM_011525262.3:c.*827_*829del, XM_011525262.3:c.*828_*829del, XM_011525262.3:c.*829del, XM_011525262.3:c.*829dup, XM_011525262.3:c.*828_*829dup, XM_011525262.3:c.*827_*829dup, XM_011525262.3:c.*826_*829dup, XM_011525262.3:c.*825_*829dup, XM_011525262.3:c.*824_*829dup, XM_011525262.3:c.*829_*830insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_011525262.2:c.*818_*829del, XM_011525262.2:c.*819_*829del, XM_011525262.2:c.*820_*829del, XM_011525262.2:c.*821_*829del, XM_011525262.2:c.*822_*829del, XM_011525262.2:c.*823_*829del, XM_011525262.2:c.*824_*829del, XM_011525262.2:c.*825_*829del, XM_011525262.2:c.*826_*829del, XM_011525262.2:c.*827_*829del, XM_011525262.2:c.*828_*829del, XM_011525262.2:c.*829del, XM_011525262.2:c.*829dup, XM_011525262.2:c.*828_*829dup, XM_011525262.2:c.*827_*829dup, XM_011525262.2:c.*826_*829dup, XM_011525262.2:c.*825_*829dup, XM_011525262.2:c.*824_*829dup, XM_011525262.2:c.*829_*830insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_011525262.1:c.*818_*829del, XM_011525262.1:c.*819_*829del, XM_011525262.1:c.*820_*829del, XM_011525262.1:c.*821_*829del, XM_011525262.1:c.*822_*829del, XM_011525262.1:c.*823_*829del, XM_011525262.1:c.*824_*829del, XM_011525262.1:c.*825_*829del, XM_011525262.1:c.*826_*829del, XM_011525262.1:c.*827_*829del, XM_011525262.1:c.*828_*829del, XM_011525262.1:c.*829del, XM_011525262.1:c.*829dup, XM_011525262.1:c.*828_*829dup, XM_011525262.1:c.*827_*829dup, XM_011525262.1:c.*826_*829dup, XM_011525262.1:c.*825_*829dup, XM_011525262.1:c.*824_*829dup, XM_011525262.1:c.*829_*830insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_001128631.3:c.*818_*829del, NM_001128631.3:c.*819_*829del, NM_001128631.3:c.*820_*829del, NM_001128631.3:c.*821_*829del, NM_001128631.3:c.*822_*829del, NM_001128631.3:c.*823_*829del, NM_001128631.3:c.*824_*829del, NM_001128631.3:c.*825_*829del, NM_001128631.3:c.*826_*829del, NM_001128631.3:c.*827_*829del, NM_001128631.3:c.*828_*829del, NM_001128631.3:c.*829del, NM_001128631.3:c.*829dup, NM_001128631.3:c.*828_*829dup, NM_001128631.3:c.*827_*829dup, NM_001128631.3:c.*826_*829dup, NM_001128631.3:c.*825_*829dup, NM_001128631.3:c.*824_*829dup, NM_001128631.3:c.*829_*830insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_001128631.2:c.*818_*829del, NM_001128631.2:c.*819_*829del, NM_001128631.2:c.*820_*829del, NM_001128631.2:c.*821_*829del, NM_001128631.2:c.*822_*829del, NM_001128631.2:c.*823_*829del, NM_001128631.2:c.*824_*829del, NM_001128631.2:c.*825_*829del, NM_001128631.2:c.*826_*829del, NM_001128631.2:c.*827_*829del, NM_001128631.2:c.*828_*829del, NM_001128631.2:c.*829del, NM_001128631.2:c.*829dup, NM_001128631.2:c.*828_*829dup, NM_001128631.2:c.*827_*829dup, NM_001128631.2:c.*826_*829dup, NM_001128631.2:c.*825_*829dup, NM_001128631.2:c.*824_*829dup, NM_001128631.2:c.*829_*830insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_001128631.1:c.*818_*829del, NM_001128631.1:c.*819_*829del, NM_001128631.1:c.*820_*829del, NM_001128631.1:c.*821_*829del, NM_001128631.1:c.*822_*829del, NM_001128631.1:c.*823_*829del, NM_001128631.1:c.*824_*829del, NM_001128631.1:c.*825_*829del, NM_001128631.1:c.*826_*829del, NM_001128631.1:c.*827_*829del, NM_001128631.1:c.*828_*829del, NM_001128631.1:c.*829del, NM_001128631.1:c.*829dup, NM_001128631.1:c.*828_*829dup, NM_001128631.1:c.*827_*829dup, NM_001128631.1:c.*826_*829dup, NM_001128631.1:c.*825_*829dup, NM_001128631.1:c.*824_*829dup, NM_001128631.1:c.*829_*830insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_001288655.2:c.*818_*829del, NM_001288655.2:c.*819_*829del, NM_001288655.2:c.*820_*829del, NM_001288655.2:c.*821_*829del, NM_001288655.2:c.*822_*829del, NM_001288655.2:c.*823_*829del, NM_001288655.2:c.*824_*829del, NM_001288655.2:c.*825_*829del, NM_001288655.2:c.*826_*829del, NM_001288655.2:c.*827_*829del, NM_001288655.2:c.*828_*829del, NM_001288655.2:c.*829del, NM_001288655.2:c.*829dup, NM_001288655.2:c.*828_*829dup, NM_001288655.2:c.*827_*829dup, NM_001288655.2:c.*826_*829dup, NM_001288655.2:c.*825_*829dup, NM_001288655.2:c.*824_*829dup, NM_001288655.2:c.*829_*830insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_001288655.1:c.*818_*829del, NM_001288655.1:c.*819_*829del, NM_001288655.1:c.*820_*829del, NM_001288655.1:c.*821_*829del, NM_001288655.1:c.*822_*829del, NM_001288655.1:c.*823_*829del, NM_001288655.1:c.*824_*829del, NM_001288655.1:c.*825_*829del, NM_001288655.1:c.*826_*829del, NM_001288655.1:c.*827_*829del, NM_001288655.1:c.*828_*829del, NM_001288655.1:c.*829del, NM_001288655.1:c.*829dup, NM_001288655.1:c.*828_*829dup, NM_001288655.1:c.*827_*829dup, NM_001288655.1:c.*826_*829dup, NM_001288655.1:c.*825_*829dup, NM_001288655.1:c.*824_*829dup, NM_001288655.1:c.*829_*830insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_001288654.2:c.*818_*829del, NM_001288654.2:c.*819_*829del, NM_001288654.2:c.*820_*829del, NM_001288654.2:c.*821_*829del, NM_001288654.2:c.*822_*829del, NM_001288654.2:c.*823_*829del, NM_001288654.2:c.*824_*829del, NM_001288654.2:c.*825_*829del, NM_001288654.2:c.*826_*829del, NM_001288654.2:c.*827_*829del, NM_001288654.2:c.*828_*829del, NM_001288654.2:c.*829del, NM_001288654.2:c.*829dup, NM_001288654.2:c.*828_*829dup, NM_001288654.2:c.*827_*829dup, NM_001288654.2:c.*826_*829dup, NM_001288654.2:c.*825_*829dup, NM_001288654.2:c.*824_*829dup, NM_001288654.2:c.*829_*830insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_001288654.1:c.*818_*829del, NM_001288654.1:c.*819_*829del, NM_001288654.1:c.*820_*829del, NM_001288654.1:c.*821_*829del, NM_001288654.1:c.*822_*829del, NM_001288654.1:c.*823_*829del, NM_001288654.1:c.*824_*829del, NM_001288654.1:c.*825_*829del, NM_001288654.1:c.*826_*829del, NM_001288654.1:c.*827_*829del, NM_001288654.1:c.*828_*829del, NM_001288654.1:c.*829del, NM_001288654.1:c.*829dup, NM_001288654.1:c.*828_*829dup, NM_001288654.1:c.*827_*829dup, NM_001288654.1:c.*826_*829dup, NM_001288654.1:c.*825_*829dup, NM_001288654.1:c.*824_*829dup, NM_001288654.1:c.*829_*830insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_001321326.2:c.*818_*829del, NM_001321326.2:c.*819_*829del, NM_001321326.2:c.*820_*829del, NM_001321326.2:c.*821_*829del, NM_001321326.2:c.*822_*829del, NM_001321326.2:c.*823_*829del, NM_001321326.2:c.*824_*829del, NM_001321326.2:c.*825_*829del, NM_001321326.2:c.*826_*829del, NM_001321326.2:c.*827_*829del, NM_001321326.2:c.*828_*829del, NM_001321326.2:c.*829del, NM_001321326.2:c.*829dup, NM_001321326.2:c.*828_*829dup, NM_001321326.2:c.*827_*829dup, NM_001321326.2:c.*826_*829dup, NM_001321326.2:c.*825_*829dup, NM_001321326.2:c.*824_*829dup, NM_001321326.2:c.*829_*830insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_001321326.1:c.*818_*829del, NM_001321326.1:c.*819_*829del, NM_001321326.1:c.*820_*829del, NM_001321326.1:c.*821_*829del, NM_001321326.1:c.*822_*829del, NM_001321326.1:c.*823_*829del, NM_001321326.1:c.*824_*829del, NM_001321326.1:c.*825_*829del, NM_001321326.1:c.*826_*829del, NM_001321326.1:c.*827_*829del, NM_001321326.1:c.*828_*829del, NM_001321326.1:c.*829del, NM_001321326.1:c.*829dup, NM_001321326.1:c.*828_*829dup, NM_001321326.1:c.*827_*829dup, NM_001321326.1:c.*826_*829dup, NM_001321326.1:c.*825_*829dup, NM_001321326.1:c.*824_*829dup, NM_001321326.1:c.*829_*830insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14891706164.

rs1489170616 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 17:45023595 (GRCh38)
17:43100963 (GRCh37)
Canonical SPDI:: NC_000017.11:45023594:T:C,NC_000017.11:45023594:T:G
Gene:: DCAKD (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
G=0.031849/93 (KOREAN)
HGVS:: NC_000017.11:g.45023595T>C, NC_000017.11:g.45023595T>G, NC_000017.10:g.43100963T>C, NC_000017.10:g.43100963T>G, NM_024819.7:c.*838A>G, NM_024819.7:c.*838A>C, NM_024819.6:c.*838A>G, NM_024819.6:c.*838A>C, NM_024819.5:c.*838A>G, NM_024819.5:c.*838A>C, NM_024819.4:c.*838A>G, NM_024819.4:c.*838A>C, XM_011525262.3:c.*838A>G, XM_011525262.3:c.*838A>C, XM_011525262.2:c.*838A>G, XM_011525262.2:c.*838A>C, XM_011525262.1:c.*838A>G, XM_011525262.1:c.*838A>C, NM_001128631.3:c.*838A>G, NM_001128631.3:c.*838A>C, NM_001128631.2:c.*838A>G, NM_001128631.2:c.*838A>C, NM_001128631.1:c.*838A>G, NM_001128631.1:c.*838A>C, NM_001288655.2:c.*838A>G, NM_001288655.2:c.*838A>C, NM_001288655.1:c.*838A>G, NM_001288655.1:c.*838A>C, NM_001288654.2:c.*838A>G, NM_001288654.2:c.*838A>C, NM_001288654.1:c.*838A>G, NM_001288654.1:c.*838A>C, NM_001321326.2:c.*838A>G, NM_001321326.2:c.*838A>C, NM_001321326.1:c.*838A>G, NM_001321326.1:c.*838A>C

Select item 14874805405.

rs1487480540 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:45024706 (GRCh38)
17:43102074 (GRCh37)
Canonical SPDI:: NC_000017.11:45024705:C:T
Gene:: DCAKD (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.45024706C>T, NC_000017.10:g.43102074C>T, NM_024819.7:c.423G>A, NM_024819.6:c.423G>A, NM_024819.5:c.423G>A, NM_024819.4:c.423G>A, XM_011525262.3:c.423G>A, XM_011525262.2:c.423G>A, XM_011525262.1:c.423G>A, NM_001128631.3:c.423G>A, NM_001128631.2:c.423G>A, NM_001128631.1:c.423G>A, NM_001288655.2:c.423G>A, NM_001288655.1:c.423G>A, NM_001288654.2:c.423G>A, NM_001288654.1:c.423G>A, NM_001321326.2:c.423G>A, NM_001321326.1:c.423G>A

Select item 14869424056.

rs1486942405 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:45024504 (GRCh38)
17:43101872 (GRCh37)
Canonical SPDI:: NC_000017.11:45024503:C:T
Gene:: DCAKD (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.45024504C>T, NC_000017.10:g.43101872C>T, NM_024819.7:c.625G>A, NM_024819.6:c.625G>A, NM_024819.5:c.625G>A, NM_024819.4:c.625G>A, XM_011525262.3:c.625G>A, XM_011525262.2:c.625G>A, XM_011525262.1:c.625G>A, NM_001128631.3:c.625G>A, NM_001128631.2:c.625G>A, NM_001128631.1:c.625G>A, NM_001288655.2:c.625G>A, NM_001288655.1:c.625G>A, NM_001288654.2:c.625G>A, NM_001288654.1:c.625G>A, NM_001321326.2:c.625G>A, NM_001321326.1:c.625G>A, NP_079095.3:p.Val209Ile, XP_011523564.1:p.Val209Ile, NP_001122103.1:p.Val209Ile, NP_001275584.1:p.Val209Ile, NP_001275583.1:p.Val209Ile, NP_001308255.1:p.Val209Ile

Select item 14861357327.

rs1486135732 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:45023345 (GRCh38)
17:43100713 (GRCh37)
Canonical SPDI:: NC_000017.11:45023344:T:G
Gene:: DCAKD (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_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.45023345T>G, NC_000017.10:g.43100713T>G, NM_024819.7:c.*1088A>C, NM_024819.6:c.*1088A>C, NM_024819.5:c.*1088A>C, NM_024819.4:c.*1088A>C, XM_011525262.3:c.*1088A>C, XM_011525262.2:c.*1088A>C, XM_011525262.1:c.*1088A>C, NM_001128631.3:c.*1088A>C, NM_001128631.2:c.*1088A>C, NM_001128631.1:c.*1088A>C, NM_001288655.2:c.*1088A>C, NM_001288655.1:c.*1088A>C, NM_001288654.2:c.*1088A>C, NM_001288654.1:c.*1088A>C, NM_001321326.2:c.*1088A>C, NM_001321326.1:c.*1088A>C

Select item 14859395808.

rs1485939580 has merged into rs67338318 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:45023615 (GRCh38)
17:43100983 (GRCh37)
Canonical SPDI:: NC_000017.11:45023603:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:45023603:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:45023603:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:45023603:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:45023603:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:45023603:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:45023603:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:45023603:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:45023603:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:45023603:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:45023603:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:45023603:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:45023603:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:45023603:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:45023603:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:45023603:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:45023603:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:45023603:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:45023603:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: DCAKD (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000017.11:g.45023615_45023626del, NC_000017.11:g.45023616_45023626del, NC_000017.11:g.45023617_45023626del, NC_000017.11:g.45023618_45023626del, NC_000017.11:g.45023619_45023626del, NC_000017.11:g.45023620_45023626del, NC_000017.11:g.45023621_45023626del, NC_000017.11:g.45023622_45023626del, NC_000017.11:g.45023623_45023626del, NC_000017.11:g.45023624_45023626del, NC_000017.11:g.45023625_45023626del, NC_000017.11:g.45023626del, NC_000017.11:g.45023626dup, NC_000017.11:g.45023625_45023626dup, NC_000017.11:g.45023624_45023626dup, NC_000017.11:g.45023623_45023626dup, NC_000017.11:g.45023622_45023626dup, NC_000017.11:g.45023621_45023626dup, NC_000017.11:g.45023626_45023627insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.43100983_43100994del, NC_000017.10:g.43100984_43100994del, NC_000017.10:g.43100985_43100994del, NC_000017.10:g.43100986_43100994del, NC_000017.10:g.43100987_43100994del, NC_000017.10:g.43100988_43100994del, NC_000017.10:g.43100989_43100994del, NC_000017.10:g.43100990_43100994del, NC_000017.10:g.43100991_43100994del, NC_000017.10:g.43100992_43100994del, NC_000017.10:g.43100993_43100994del, NC_000017.10:g.43100994del, NC_000017.10:g.43100994dup, NC_000017.10:g.43100993_43100994dup, NC_000017.10:g.43100992_43100994dup, NC_000017.10:g.43100991_43100994dup, NC_000017.10:g.43100990_43100994dup, NC_000017.10:g.43100989_43100994dup, NC_000017.10:g.43100994_43100995insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NM_024819.7:c.*818_*829del, NM_024819.7:c.*819_*829del, NM_024819.7:c.*820_*829del, NM_024819.7:c.*821_*829del, NM_024819.7:c.*822_*829del, NM_024819.7:c.*823_*829del, NM_024819.7:c.*824_*829del, NM_024819.7:c.*825_*829del, NM_024819.7:c.*826_*829del, NM_024819.7:c.*827_*829del, NM_024819.7:c.*828_*829del, NM_024819.7:c.*829del, NM_024819.7:c.*829dup, NM_024819.7:c.*828_*829dup, NM_024819.7:c.*827_*829dup, NM_024819.7:c.*826_*829dup, NM_024819.7:c.*825_*829dup, NM_024819.7:c.*824_*829dup, NM_024819.7:c.*829_*830insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_024819.6:c.*818_*829del, NM_024819.6:c.*819_*829del, NM_024819.6:c.*820_*829del, NM_024819.6:c.*821_*829del, NM_024819.6:c.*822_*829del, NM_024819.6:c.*823_*829del, NM_024819.6:c.*824_*829del, NM_024819.6:c.*825_*829del, NM_024819.6:c.*826_*829del, NM_024819.6:c.*827_*829del, NM_024819.6:c.*828_*829del, NM_024819.6:c.*829del, NM_024819.6:c.*829dup, NM_024819.6:c.*828_*829dup, NM_024819.6:c.*827_*829dup, NM_024819.6:c.*826_*829dup, NM_024819.6:c.*825_*829dup, NM_024819.6:c.*824_*829dup, NM_024819.6:c.*829_*830insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_024819.5:c.*818_*829del, NM_024819.5:c.*819_*829del, NM_024819.5:c.*820_*829del, NM_024819.5:c.*821_*829del, NM_024819.5:c.*822_*829del, NM_024819.5:c.*823_*829del, NM_024819.5:c.*824_*829del, NM_024819.5:c.*825_*829del, NM_024819.5:c.*826_*829del, NM_024819.5:c.*827_*829del, NM_024819.5:c.*828_*829del, NM_024819.5:c.*829del, NM_024819.5:c.*829dup, NM_024819.5:c.*828_*829dup, NM_024819.5:c.*827_*829dup, NM_024819.5:c.*826_*829dup, NM_024819.5:c.*825_*829dup, NM_024819.5:c.*824_*829dup, NM_024819.5:c.*829_*830insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_024819.4:c.*818_*829del, NM_024819.4:c.*819_*829del, NM_024819.4:c.*820_*829del, NM_024819.4:c.*821_*829del, NM_024819.4:c.*822_*829del, NM_024819.4:c.*823_*829del, NM_024819.4:c.*824_*829del, NM_024819.4:c.*825_*829del, NM_024819.4:c.*826_*829del, NM_024819.4:c.*827_*829del, NM_024819.4:c.*828_*829del, NM_024819.4:c.*829del, NM_024819.4:c.*829dup, NM_024819.4:c.*828_*829dup, NM_024819.4:c.*827_*829dup, NM_024819.4:c.*826_*829dup, NM_024819.4:c.*825_*829dup, NM_024819.4:c.*824_*829dup, NM_024819.4:c.*829_*830insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_011525262.3:c.*818_*829del, XM_011525262.3:c.*819_*829del, XM_011525262.3:c.*820_*829del, XM_011525262.3:c.*821_*829del, XM_011525262.3:c.*822_*829del, XM_011525262.3:c.*823_*829del, XM_011525262.3:c.*824_*829del, XM_011525262.3:c.*825_*829del, XM_011525262.3:c.*826_*829del, XM_011525262.3:c.*827_*829del, XM_011525262.3:c.*828_*829del, XM_011525262.3:c.*829del, XM_011525262.3:c.*829dup, XM_011525262.3:c.*828_*829dup, XM_011525262.3:c.*827_*829dup, XM_011525262.3:c.*826_*829dup, XM_011525262.3:c.*825_*829dup, XM_011525262.3:c.*824_*829dup, XM_011525262.3:c.*829_*830insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_011525262.2:c.*818_*829del, XM_011525262.2:c.*819_*829del, XM_011525262.2:c.*820_*829del, XM_011525262.2:c.*821_*829del, XM_011525262.2:c.*822_*829del, XM_011525262.2:c.*823_*829del, XM_011525262.2:c.*824_*829del, XM_011525262.2:c.*825_*829del, XM_011525262.2:c.*826_*829del, XM_011525262.2:c.*827_*829del, XM_011525262.2:c.*828_*829del, XM_011525262.2:c.*829del, XM_011525262.2:c.*829dup, XM_011525262.2:c.*828_*829dup, XM_011525262.2:c.*827_*829dup, XM_011525262.2:c.*826_*829dup, XM_011525262.2:c.*825_*829dup, XM_011525262.2:c.*824_*829dup, XM_011525262.2:c.*829_*830insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_011525262.1:c.*818_*829del, XM_011525262.1:c.*819_*829del, XM_011525262.1:c.*820_*829del, XM_011525262.1:c.*821_*829del, XM_011525262.1:c.*822_*829del, XM_011525262.1:c.*823_*829del, XM_011525262.1:c.*824_*829del, XM_011525262.1:c.*825_*829del, XM_011525262.1:c.*826_*829del, XM_011525262.1:c.*827_*829del, XM_011525262.1:c.*828_*829del, XM_011525262.1:c.*829del, XM_011525262.1:c.*829dup, XM_011525262.1:c.*828_*829dup, XM_011525262.1:c.*827_*829dup, XM_011525262.1:c.*826_*829dup, XM_011525262.1:c.*825_*829dup, XM_011525262.1:c.*824_*829dup, XM_011525262.1:c.*829_*830insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_001128631.3:c.*818_*829del, NM_001128631.3:c.*819_*829del, NM_001128631.3:c.*820_*829del, NM_001128631.3:c.*821_*829del, NM_001128631.3:c.*822_*829del, NM_001128631.3:c.*823_*829del, NM_001128631.3:c.*824_*829del, NM_001128631.3:c.*825_*829del, NM_001128631.3:c.*826_*829del, NM_001128631.3:c.*827_*829del, NM_001128631.3:c.*828_*829del, NM_001128631.3:c.*829del, NM_001128631.3:c.*829dup, NM_001128631.3:c.*828_*829dup, NM_001128631.3:c.*827_*829dup, NM_001128631.3:c.*826_*829dup, NM_001128631.3:c.*825_*829dup, NM_001128631.3:c.*824_*829dup, NM_001128631.3:c.*829_*830insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_001128631.2:c.*818_*829del, NM_001128631.2:c.*819_*829del, NM_001128631.2:c.*820_*829del, NM_001128631.2:c.*821_*829del, NM_001128631.2:c.*822_*829del, NM_001128631.2:c.*823_*829del, NM_001128631.2:c.*824_*829del, NM_001128631.2:c.*825_*829del, NM_001128631.2:c.*826_*829del, NM_001128631.2:c.*827_*829del, NM_001128631.2:c.*828_*829del, NM_001128631.2:c.*829del, NM_001128631.2:c.*829dup, NM_001128631.2:c.*828_*829dup, NM_001128631.2:c.*827_*829dup, NM_001128631.2:c.*826_*829dup, NM_001128631.2:c.*825_*829dup, NM_001128631.2:c.*824_*829dup, NM_001128631.2:c.*829_*830insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_001128631.1:c.*818_*829del, NM_001128631.1:c.*819_*829del, NM_001128631.1:c.*820_*829del, NM_001128631.1:c.*821_*829del, NM_001128631.1:c.*822_*829del, NM_001128631.1:c.*823_*829del, NM_001128631.1:c.*824_*829del, NM_001128631.1:c.*825_*829del, NM_001128631.1:c.*826_*829del, NM_001128631.1:c.*827_*829del, NM_001128631.1:c.*828_*829del, NM_001128631.1:c.*829del, NM_001128631.1:c.*829dup, NM_001128631.1:c.*828_*829dup, NM_001128631.1:c.*827_*829dup, NM_001128631.1:c.*826_*829dup, NM_001128631.1:c.*825_*829dup, NM_001128631.1:c.*824_*829dup, NM_001128631.1:c.*829_*830insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_001288655.2:c.*818_*829del, NM_001288655.2:c.*819_*829del, NM_001288655.2:c.*820_*829del, NM_001288655.2:c.*821_*829del, NM_001288655.2:c.*822_*829del, NM_001288655.2:c.*823_*829del, NM_001288655.2:c.*824_*829del, NM_001288655.2:c.*825_*829del, NM_001288655.2:c.*826_*829del, NM_001288655.2:c.*827_*829del, NM_001288655.2:c.*828_*829del, NM_001288655.2:c.*829del, NM_001288655.2:c.*829dup, NM_001288655.2:c.*828_*829dup, NM_001288655.2:c.*827_*829dup, NM_001288655.2:c.*826_*829dup, NM_001288655.2:c.*825_*829dup, NM_001288655.2:c.*824_*829dup, NM_001288655.2:c.*829_*830insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_001288655.1:c.*818_*829del, NM_001288655.1:c.*819_*829del, NM_001288655.1:c.*820_*829del, NM_001288655.1:c.*821_*829del, NM_001288655.1:c.*822_*829del, NM_001288655.1:c.*823_*829del, NM_001288655.1:c.*824_*829del, NM_001288655.1:c.*825_*829del, NM_001288655.1:c.*826_*829del, NM_001288655.1:c.*827_*829del, NM_001288655.1:c.*828_*829del, NM_001288655.1:c.*829del, NM_001288655.1:c.*829dup, NM_001288655.1:c.*828_*829dup, NM_001288655.1:c.*827_*829dup, NM_001288655.1:c.*826_*829dup, NM_001288655.1:c.*825_*829dup, NM_001288655.1:c.*824_*829dup, NM_001288655.1:c.*829_*830insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_001288654.2:c.*818_*829del, NM_001288654.2:c.*819_*829del, NM_001288654.2:c.*820_*829del, NM_001288654.2:c.*821_*829del, NM_001288654.2:c.*822_*829del, NM_001288654.2:c.*823_*829del, NM_001288654.2:c.*824_*829del, NM_001288654.2:c.*825_*829del, NM_001288654.2:c.*826_*829del, NM_001288654.2:c.*827_*829del, NM_001288654.2:c.*828_*829del, NM_001288654.2:c.*829del, NM_001288654.2:c.*829dup, NM_001288654.2:c.*828_*829dup, NM_001288654.2:c.*827_*829dup, NM_001288654.2:c.*826_*829dup, NM_001288654.2:c.*825_*829dup, NM_001288654.2:c.*824_*829dup, NM_001288654.2:c.*829_*830insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_001288654.1:c.*818_*829del, NM_001288654.1:c.*819_*829del, NM_001288654.1:c.*820_*829del, NM_001288654.1:c.*821_*829del, NM_001288654.1:c.*822_*829del, NM_001288654.1:c.*823_*829del, NM_001288654.1:c.*824_*829del, NM_001288654.1:c.*825_*829del, NM_001288654.1:c.*826_*829del, NM_001288654.1:c.*827_*829del, NM_001288654.1:c.*828_*829del, NM_001288654.1:c.*829del, NM_001288654.1:c.*829dup, NM_001288654.1:c.*828_*829dup, NM_001288654.1:c.*827_*829dup, NM_001288654.1:c.*826_*829dup, NM_001288654.1:c.*825_*829dup, NM_001288654.1:c.*824_*829dup, NM_001288654.1:c.*829_*830insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_001321326.2:c.*818_*829del, NM_001321326.2:c.*819_*829del, NM_001321326.2:c.*820_*829del, NM_001321326.2:c.*821_*829del, NM_001321326.2:c.*822_*829del, NM_001321326.2:c.*823_*829del, NM_001321326.2:c.*824_*829del, NM_001321326.2:c.*825_*829del, NM_001321326.2:c.*826_*829del, NM_001321326.2:c.*827_*829del, NM_001321326.2:c.*828_*829del, NM_001321326.2:c.*829del, NM_001321326.2:c.*829dup, NM_001321326.2:c.*828_*829dup, NM_001321326.2:c.*827_*829dup, NM_001321326.2:c.*826_*829dup, NM_001321326.2:c.*825_*829dup, NM_001321326.2:c.*824_*829dup, NM_001321326.2:c.*829_*830insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_001321326.1:c.*818_*829del, NM_001321326.1:c.*819_*829del, NM_001321326.1:c.*820_*829del, NM_001321326.1:c.*821_*829del, NM_001321326.1:c.*822_*829del, NM_001321326.1:c.*823_*829del, NM_001321326.1:c.*824_*829del, NM_001321326.1:c.*825_*829del, NM_001321326.1:c.*826_*829del, NM_001321326.1:c.*827_*829del, NM_001321326.1:c.*828_*829del, NM_001321326.1:c.*829del, NM_001321326.1:c.*829dup, NM_001321326.1:c.*828_*829dup, NM_001321326.1:c.*827_*829dup, NM_001321326.1:c.*826_*829dup, NM_001321326.1:c.*825_*829dup, NM_001321326.1:c.*824_*829dup, NM_001321326.1:c.*829_*830insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14837254629.

rs1483725462 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:45024418 (GRCh38)
17:43101786 (GRCh37)
Canonical SPDI:: NC_000017.11:45024417:G:C
Gene:: DCAKD (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.45024418G>C, NC_000017.10:g.43101786G>C, NM_024819.7:c.*15C>G, NM_024819.6:c.*15C>G, NM_024819.5:c.*15C>G, NM_024819.4:c.*15C>G, XM_011525262.3:c.*15C>G, XM_011525262.2:c.*15C>G, XM_011525262.1:c.*15C>G, NM_001128631.3:c.*15C>G, NM_001128631.2:c.*15C>G, NM_001128631.1:c.*15C>G, NM_001288655.2:c.*15C>G, NM_001288655.1:c.*15C>G, NM_001288654.2:c.*15C>G, NM_001288654.1:c.*15C>G, NM_001321326.2:c.*15C>G, NM_001321326.1:c.*15C>G

Select item 148369103710.

rs1483691037 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:45023658 (GRCh38)
17:43101026 (GRCh37)
Canonical SPDI:: NC_000017.11:45023657:C:T
Gene:: DCAKD (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000015/2 (GnomAD)
T=0.001672/1 (NorthernSweden)
HGVS:: NC_000017.11:g.45023658C>T, NC_000017.10:g.43101026C>T, NM_024819.7:c.*775G>A, NM_024819.6:c.*775G>A, NM_024819.5:c.*775G>A, NM_024819.4:c.*775G>A, XM_011525262.3:c.*775G>A, XM_011525262.2:c.*775G>A, XM_011525262.1:c.*775G>A, NM_001128631.3:c.*775G>A, NM_001128631.2:c.*775G>A, NM_001128631.1:c.*775G>A, NM_001288655.2:c.*775G>A, NM_001288655.1:c.*775G>A, NM_001288654.2:c.*775G>A, NM_001288654.1:c.*775G>A, NM_001321326.2:c.*775G>A, NM_001321326.1:c.*775G>A

Select item 148309697911.

rs1483096979 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:45024633 (GRCh38)
17:43102001 (GRCh37)
Canonical SPDI:: NC_000017.11:45024632:T:G
Gene:: DCAKD (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.45024633T>G, NC_000017.10:g.43102001T>G, NM_024819.7:c.496A>C, NM_024819.6:c.496A>C, NM_024819.5:c.496A>C, NM_024819.4:c.496A>C, XM_011525262.3:c.496A>C, XM_011525262.2:c.496A>C, XM_011525262.1:c.496A>C, NM_001128631.3:c.496A>C, NM_001128631.2:c.496A>C, NM_001128631.1:c.496A>C, NM_001288655.2:c.496A>C, NM_001288655.1:c.496A>C, NM_001288654.2:c.496A>C, NM_001288654.1:c.496A>C, NM_001321326.2:c.496A>C, NM_001321326.1:c.496A>C, NP_079095.3:p.Thr166Pro, XP_011523564.1:p.Thr166Pro, NP_001122103.1:p.Thr166Pro, NP_001275584.1:p.Thr166Pro, NP_001275583.1:p.Thr166Pro, NP_001308255.1:p.Thr166Pro

Select item 148309311812.

rs1483093118 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 17:45030117 (GRCh38)
17:43107485 (GRCh37)
Canonical SPDI:: NC_000017.11:45030116:T:C,NC_000017.11:45030116:T:G
Gene:: DCAKD (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,3_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.45030117T>C, NC_000017.11:g.45030117T>G, NC_000017.10:g.43107485T>C, NC_000017.10:g.43107485T>G, NM_024819.7:c.379A>G, NM_024819.7:c.379A>C, NM_024819.6:c.379A>G, NM_024819.6:c.379A>C, NM_024819.5:c.379A>G, NM_024819.5:c.379A>C, NM_024819.4:c.379A>G, NM_024819.4:c.379A>C, XM_011525262.3:c.379A>G, XM_011525262.3:c.379A>C, XM_011525262.2:c.379A>G, XM_011525262.2:c.379A>C, XM_011525262.1:c.379A>G, XM_011525262.1:c.379A>C, NM_001128631.3:c.379A>G, NM_001128631.3:c.379A>C, NM_001128631.2:c.379A>G, NM_001128631.2:c.379A>C, NM_001128631.1:c.379A>G, NM_001128631.1:c.379A>C, NM_001288655.2:c.379A>G, NM_001288655.2:c.379A>C, NM_001288655.1:c.379A>G, NM_001288655.1:c.379A>C, NM_001288654.2:c.379A>G, NM_001288654.2:c.379A>C, NM_001288654.1:c.379A>G, NM_001288654.1:c.379A>C, NM_001321326.2:c.379A>G, NM_001321326.2:c.379A>C, NM_001321326.1:c.379A>G, NM_001321326.1:c.379A>C, XM_047436773.1:c.*88A>G, XM_047436773.1:c.*88A>C, NP_079095.3:p.Met127Val, NP_079095.3:p.Met127Leu, XP_011523564.1:p.Met127Val, XP_011523564.1:p.Met127Leu, NP_001122103.1:p.Met127Val, NP_001122103.1:p.Met127Leu, NP_001275584.1:p.Met127Val, NP_001275584.1:p.Met127Leu, NP_001275583.1:p.Met127Val, NP_001275583.1:p.Met127Leu, NP_001308255.1:p.Met127Val, NP_001308255.1:p.Met127Leu

Select item 148037137813.

rs1480371378 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:45034930 (GRCh38)
17:43112298 (GRCh37)
Canonical SPDI:: NC_000017.11:45034929:T:C
Gene:: DCAKD (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.45034930T>C, NC_000017.10:g.43112298T>C, NM_024819.7:c.-45A>G, NM_024819.6:c.-45A>G, NM_024819.5:c.-45A>G, NM_024819.4:c.-45A>G, XM_011525262.3:c.-45A>G, XM_011525262.2:c.-45A>G, XM_011525262.1:c.-45A>G, NM_001128631.3:c.-45A>G, NM_001128631.2:c.-45A>G, NM_001128631.1:c.-45A>G, XM_005257688.3:c.-45A>G, XM_005257688.2:c.-45A>G, XM_005257688.1:c.-45A>G, NM_001288655.2:c.-45A>G, NM_001288655.1:c.-45A>G, NM_001288654.2:c.-45A>G, NM_001288654.1:c.-45A>G, NM_001321326.2:c.-45A>G, NM_001321326.1:c.-45A>G, XM_017025103.2:c.-45A>G, XM_017025103.1:c.-45A>G, XM_047436773.1:c.-45A>G

Select item 147956381014.

rs1479563810 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 17:45023714 (GRCh38)
17:43101082 (GRCh37)
Canonical SPDI:: NC_000017.11:45023713:T:A
Gene:: DCAKD (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.45023714T>A, NC_000017.10:g.43101082T>A, NM_024819.7:c.*719A>T, NM_024819.6:c.*719A>T, NM_024819.5:c.*719A>T, NM_024819.4:c.*719A>T, XM_011525262.3:c.*719A>T, XM_011525262.2:c.*719A>T, XM_011525262.1:c.*719A>T, NM_001128631.3:c.*719A>T, NM_001128631.2:c.*719A>T, NM_001128631.1:c.*719A>T, NM_001288655.2:c.*719A>T, NM_001288655.1:c.*719A>T, NM_001288654.2:c.*719A>T, NM_001288654.1:c.*719A>T, NM_001321326.2:c.*719A>T, NM_001321326.1:c.*719A>T

Select item 147951680815.

rs1479516808 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:45034802 (GRCh38)
17:43112170 (GRCh37)
Canonical SPDI:: NC_000017.11:45034801:C:T
Gene:: DCAKD (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.45034802C>T, NC_000017.10:g.43112170C>T, NM_024819.7:c.84G>A, NM_024819.6:c.84G>A, NM_024819.5:c.84G>A, NM_024819.4:c.84G>A, XM_011525262.3:c.84G>A, XM_011525262.2:c.84G>A, XM_011525262.1:c.84G>A, NM_001128631.3:c.84G>A, NM_001128631.2:c.84G>A, NM_001128631.1:c.84G>A, XM_005257688.3:c.84G>A, XM_005257688.2:c.84G>A, XM_005257688.1:c.84G>A, NM_001288655.2:c.84G>A, NM_001288655.1:c.84G>A, NM_001288654.2:c.84G>A, NM_001288654.1:c.84G>A, NM_001321326.2:c.84G>A, NM_001321326.1:c.84G>A, XM_017025103.2:c.84G>A, XM_017025103.1:c.84G>A, XM_047436773.1:c.84G>A

Select item 147560188416.

rs1475601884 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 17:45023416 (GRCh38)
17:43100784 (GRCh37)
Canonical SPDI:: NC_000017.11:45023412:ACACA:ACA
Gene:: DCAKD (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: ACA=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.45023414CA[1], NC_000017.10:g.43100782CA[1], NM_024819.7:c.*1017GT[1], NM_024819.6:c.*1017GT[1], NM_024819.5:c.*1017GT[1], NM_024819.4:c.*1017GT[1], XM_011525262.3:c.*1017GT[1], XM_011525262.2:c.*1017GT[1], XM_011525262.1:c.*1017GT[1], NM_001128631.3:c.*1017GT[1], NM_001128631.2:c.*1017GT[1], NM_001128631.1:c.*1017GT[1], NM_001288655.2:c.*1017GT[1], NM_001288655.1:c.*1017GT[1], NM_001288654.2:c.*1017GT[1], NM_001288654.1:c.*1017GT[1], NM_001321326.2:c.*1017GT[1], NM_001321326.1:c.*1017GT[1]

Select item 147491815917.

rs1474918159 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:45034192 (GRCh38)
17:43111560 (GRCh37)
Canonical SPDI:: NC_000017.11:45034191:A:G
Gene:: DCAKD (Varview)
Functional Consequence:: coding_sequence_variant,missense_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.45034192A>G, NC_000017.10:g.43111560A>G, NM_024819.7:c.311T>C, NM_024819.6:c.311T>C, NM_024819.5:c.311T>C, NM_024819.4:c.311T>C, XM_011525262.3:c.311T>C, XM_011525262.2:c.311T>C, XM_011525262.1:c.311T>C, NM_001128631.3:c.311T>C, NM_001128631.2:c.311T>C, NM_001128631.1:c.311T>C, XM_005257688.3:c.311T>C, XM_005257688.2:c.311T>C, XM_005257688.1:c.311T>C, NM_001288655.2:c.311T>C, NM_001288655.1:c.311T>C, NM_001288654.2:c.311T>C, NM_001288654.1:c.311T>C, NM_001321326.2:c.311T>C, NM_001321326.1:c.311T>C, XM_017025103.2:c.311T>C, XM_017025103.1:c.311T>C, XM_047436773.1:c.311T>C, NP_079095.3:p.Leu104Pro, XP_011523564.1:p.Leu104Pro, NP_001122103.1:p.Leu104Pro, XP_005257745.1:p.Leu104Pro, NP_001275584.1:p.Leu104Pro, NP_001275583.1:p.Leu104Pro, NP_001308255.1:p.Leu104Pro, XP_016880592.1:p.Leu104Pro, XP_047292729.1:p.Leu104Pro

Select item 147446429418.

rs1474464294 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACTG>- [Show Flanks]
Chromosome:: 17:45024134 (GRCh38)
17:43101502 (GRCh37)
Canonical SPDI:: NC_000017.11:45024130:CTGACTG:CTG
Gene:: DCAKD (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.45024134_45024137del, NC_000017.10:g.43101502_43101505del, NM_024819.7:c.*299_*302del, NM_024819.6:c.*299_*302del, NM_024819.5:c.*299_*302del, NM_024819.4:c.*299_*302del, XM_011525262.3:c.*299_*302del, XM_011525262.2:c.*299_*302del, XM_011525262.1:c.*299_*302del, NM_001128631.3:c.*299_*302del, NM_001128631.2:c.*299_*302del, NM_001128631.1:c.*299_*302del, NM_001288655.2:c.*299_*302del, NM_001288655.1:c.*299_*302del, NM_001288654.2:c.*299_*302del, NM_001288654.1:c.*299_*302del, NM_001321326.2:c.*299_*302del, NM_001321326.1:c.*299_*302del

Select item 146996197419.

rs1469961974 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:45060952 (GRCh38)
17:43138320 (GRCh37)
Canonical SPDI:: NC_000017.11:45060951:G:A
Gene:: NMT1 (Varview), DCAKD (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.45060952G>A, NC_000017.10:g.43138320G>A, NM_024819.7:c.-179C>T, NM_024819.6:c.-179C>T, NM_024819.5:c.-179C>T, NM_024819.4:c.-179C>T, NM_001288654.2:c.-182C>T, NM_001288654.1:c.-182C>T

Select item 146994562320.

rs1469945623 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:45023438 (GRCh38)
17:43100806 (GRCh37)
Canonical SPDI:: NC_000017.11:45023437:C:G,NC_000017.11:45023437:C:T
Gene:: DCAKD (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000017.11:g.45023438C>G, NC_000017.11:g.45023438C>T, NC_000017.10:g.43100806C>G, NC_000017.10:g.43100806C>T, NM_024819.7:c.*995G>C, NM_024819.7:c.*995G>A, NM_024819.6:c.*995G>C, NM_024819.6:c.*995G>A, NM_024819.5:c.*995G>C, NM_024819.5:c.*995G>A, NM_024819.4:c.*995G>C, NM_024819.4:c.*995G>A, XM_011525262.3:c.*995G>C, XM_011525262.3:c.*995G>A, XM_011525262.2:c.*995G>C, XM_011525262.2:c.*995G>A, XM_011525262.1:c.*995G>C, XM_011525262.1:c.*995G>A, NM_001128631.3:c.*995G>C, NM_001128631.3:c.*995G>A, NM_001128631.2:c.*995G>C, NM_001128631.2:c.*995G>A, NM_001128631.1:c.*995G>C, NM_001128631.1:c.*995G>A, NM_001288655.2:c.*995G>C, NM_001288655.2:c.*995G>A, NM_001288655.1:c.*995G>C, NM_001288655.1:c.*995G>A, NM_001288654.2:c.*995G>C, NM_001288654.2:c.*995G>A, NM_001288654.1:c.*995G>C, NM_001288654.1:c.*995G>A, NM_001321326.2:c.*995G>C, NM_001321326.2:c.*995G>A, NM_001321326.1:c.*995G>C, NM_001321326.1:c.*995G>A

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