SNP Links for Nucleotide (Select 1178431751) - SNP

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Select item 14913432071.

rs1491343207 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 17:28623546 (GRCh38)
17:26950565 (GRCh37)
Canonical SPDI:: NC_000017.11:28623546:A:AA
Gene:: KIAA0100 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000023/6 (TOPMED)
A=0.000036/5 (GnomAD)
HGVS:: NC_000017.11:g.28623547dup, NC_000017.10:g.26950565dup, NG_053109.1:g.26908dup

Select item 14909899922.

rs1490989992 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:28641659 (GRCh38)
17:26968677 (GRCh37)
Canonical SPDI:: NC_000017.11:28641658:A:G
Gene:: KIAA0100 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/1 (GnomAD)
HGVS:: NC_000017.11:g.28641659A>G, NC_000017.10:g.26968677A>G, NG_053109.1:g.8796T>C

Select item 14909589393.

rs1490958939 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:28640882 (GRCh38)
17:26967900 (GRCh37)
Canonical SPDI:: NC_000017.11:28640881:G:A,NC_000017.11:28640881:G:C
Gene:: KIAA0100 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.28640882G>A, NC_000017.11:g.28640882G>C, NC_000017.10:g.26967900G>A, NC_000017.10:g.26967900G>C, NG_053109.1:g.9573C>T, NG_053109.1:g.9573C>G

Select item 14909083934.

rs1490908393 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 17:28616667 (GRCh38)
17:26943685 (GRCh37)
Canonical SPDI:: NC_000017.11:28616666:T:A
Gene:: KIAA0100 (Varview), SPAG5-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000087/2 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.00005/7 (GnomAD)
A=0.000057/15 (TOPMED)
HGVS:: NC_000017.11:g.28616667T>A, NC_000017.10:g.26943685T>A, NG_053109.1:g.33788A>T, NM_014680.5:c.6108A>T, NM_014680.4:c.6108A>T, NM_014680.3:c.6108A>T, NM_001321560.2:c.6105A>T, NM_001321560.1:c.6105A>T, NM_001363829.1:c.4080A>T, NM_001363827.1:c.5103A>T, NM_001363826.1:c.5679A>T, NM_001363828.1:c.4083A>T, NR_040012.1:n.655T>A, NP_055495.2:p.Glu2036Asp, NP_001308489.1:p.Glu2035Asp, NP_001350758.1:p.Glu1360Asp, NP_001350756.1:p.Glu1701Asp, NP_001350755.1:p.Glu1893Asp, NP_001350757.1:p.Glu1361Asp

Select item 14908436325.

rs1490843632 has merged into rs34283385 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:28625341 (GRCh38)
17:26952359 (GRCh37)
Canonical SPDI:: NC_000017.11:28625334:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAA,NC_000017.11:28625334:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000017.11:28625334:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000017.11:28625334:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000017.11:28625334:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:28625334:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:28625334:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:28625334:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:28625334:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:28625334:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:28625334:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:28625334:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:28625334:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:28625334:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:28625334:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:28625334:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:28625334:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:28625334:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:28625334:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:28625334:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:28625334:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:28625334:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:28625334:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:28625334:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:28625334:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:28625334:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:28625334:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:28625334:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:28625334:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:28625334:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:28625334:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:28625334:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:28625334:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:28625334:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:28625334:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:28625334:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:28625334:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:28625334:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:28625334:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:28625334:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:28625334:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:28625334:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:28625334:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:28625334:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:28625334:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:28625334:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:28625334:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:28625334:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:28625334:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:28625334:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:28625334:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:28625334:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:28625334:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:28625334:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:28625334:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:28625334:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: KIAA0100 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAA=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.28625341_28625358del, NC_000017.11:g.28625343_28625358del, NC_000017.11:g.28625344_28625358del, NC_000017.11:g.28625345_28625358del, NC_000017.11:g.28625346_28625358del, NC_000017.11:g.28625347_28625358del, NC_000017.11:g.28625348_28625358del, NC_000017.11:g.28625349_28625358del, NC_000017.11:g.28625350_28625358del, NC_000017.11:g.28625351_28625358del, NC_000017.11:g.28625352_28625358del, NC_000017.11:g.28625353_28625358del, NC_000017.11:g.28625354_28625358del, NC_000017.11:g.28625355_28625358del, NC_000017.11:g.28625356_28625358del, NC_000017.11:g.28625357_28625358del, NC_000017.11:g.28625358del, NC_000017.11:g.28625358dup, NC_000017.11:g.28625357_28625358dup, NC_000017.11:g.28625356_28625358dup, NC_000017.11:g.28625355_28625358dup, NC_000017.11:g.28625354_28625358dup, NC_000017.11:g.28625353_28625358dup, NC_000017.11:g.28625352_28625358dup, NC_000017.11:g.28625351_28625358dup, NC_000017.11:g.28625350_28625358dup, NC_000017.11:g.28625349_28625358dup, NC_000017.11:g.28625348_28625358dup, NC_000017.11:g.28625347_28625358dup, NC_000017.11:g.28625346_28625358dup, NC_000017.11:g.28625345_28625358dup, NC_000017.11:g.28625344_28625358dup, NC_000017.11:g.28625343_28625358dup, NC_000017.11:g.28625342_28625358dup, NC_000017.11:g.28625341_28625358dup, NC_000017.11:g.28625340_28625358dup, NC_000017.11:g.28625339_28625358dup, NC_000017.11:g.28625338_28625358dup, NC_000017.11:g.28625358_28625359insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.28625358_28625359insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.28625358_28625359insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.28625358_28625359insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.28625358_28625359insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.28625358_28625359insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.28625358_28625359insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.28625358_28625359insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.28625358_28625359insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.28625358_28625359insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.28625358_28625359insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.28625358_28625359insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.28625358_28625359insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.28625358_28625359insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.28625358_28625359insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.28625358_28625359insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.28625335_28625358A[30]CAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000017.11:g.28625335_28625358A[25]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000017.10:g.26952359_26952376del, NC_000017.10:g.26952361_26952376del, NC_000017.10:g.26952362_26952376del, NC_000017.10:g.26952363_26952376del, NC_000017.10:g.26952364_26952376del, NC_000017.10:g.26952365_26952376del, NC_000017.10:g.26952366_26952376del, NC_000017.10:g.26952367_26952376del, NC_000017.10:g.26952368_26952376del, NC_000017.10:g.26952369_26952376del, NC_000017.10:g.26952370_26952376del, NC_000017.10:g.26952371_26952376del, NC_000017.10:g.26952372_26952376del, NC_000017.10:g.26952373_26952376del, NC_000017.10:g.26952374_26952376del, NC_000017.10:g.26952375_26952376del, NC_000017.10:g.26952376del, NC_000017.10:g.26952376dup, NC_000017.10:g.26952375_26952376dup, NC_000017.10:g.26952374_26952376dup, NC_000017.10:g.26952373_26952376dup, NC_000017.10:g.26952372_26952376dup, NC_000017.10:g.26952371_26952376dup, NC_000017.10:g.26952370_26952376dup, NC_000017.10:g.26952369_26952376dup, NC_000017.10:g.26952368_26952376dup, NC_000017.10:g.26952367_26952376dup, NC_000017.10:g.26952366_26952376dup, NC_000017.10:g.26952365_26952376dup, NC_000017.10:g.26952364_26952376dup, NC_000017.10:g.26952363_26952376dup, NC_000017.10:g.26952362_26952376dup, NC_000017.10:g.26952361_26952376dup, NC_000017.10:g.26952360_26952376dup, NC_000017.10:g.26952359_26952376dup, NC_000017.10:g.26952358_26952376dup, NC_000017.10:g.26952357_26952376dup, NC_000017.10:g.26952356_26952376dup, NC_000017.10:g.26952376_26952377insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.26952376_26952377insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.26952376_26952377insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.26952376_26952377insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.26952376_26952377insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.26952376_26952377insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.26952376_26952377insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.26952376_26952377insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.26952376_26952377insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.26952376_26952377insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.26952376_26952377insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.26952376_26952377insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.26952376_26952377insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.26952376_26952377insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.26952376_26952377insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.26952376_26952377insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.26952353_26952376A[30]CAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000017.10:g.26952353_26952376A[25]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_053109.1:g.25103_25120del, NG_053109.1:g.25105_25120del, NG_053109.1:g.25106_25120del, NG_053109.1:g.25107_25120del, NG_053109.1:g.25108_25120del, NG_053109.1:g.25109_25120del, NG_053109.1:g.25110_25120del, NG_053109.1:g.25111_25120del, NG_053109.1:g.25112_25120del, NG_053109.1:g.25113_25120del, NG_053109.1:g.25114_25120del, NG_053109.1:g.25115_25120del, NG_053109.1:g.25116_25120del, NG_053109.1:g.25117_25120del, NG_053109.1:g.25118_25120del, NG_053109.1:g.25119_25120del, NG_053109.1:g.25120del, NG_053109.1:g.25120dup, NG_053109.1:g.25119_25120dup, NG_053109.1:g.25118_25120dup, NG_053109.1:g.25117_25120dup, NG_053109.1:g.25116_25120dup, NG_053109.1:g.25115_25120dup, NG_053109.1:g.25114_25120dup, NG_053109.1:g.25113_25120dup, NG_053109.1:g.25112_25120dup, NG_053109.1:g.25111_25120dup, NG_053109.1:g.25110_25120dup, NG_053109.1:g.25109_25120dup, NG_053109.1:g.25108_25120dup, NG_053109.1:g.25107_25120dup, NG_053109.1:g.25106_25120dup, NG_053109.1:g.25105_25120dup, NG_053109.1:g.25104_25120dup, NG_053109.1:g.25103_25120dup, NG_053109.1:g.25102_25120dup, NG_053109.1:g.25101_25120dup, NG_053109.1:g.25100_25120dup, NG_053109.1:g.25120_25121insTTTTTTTTTTTTTTTTTTTTTTTTT, NG_053109.1:g.25120_25121insTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_053109.1:g.25120_25121insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_053109.1:g.25120_25121insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_053109.1:g.25120_25121insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_053109.1:g.25120_25121insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_053109.1:g.25120_25121insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_053109.1:g.25120_25121insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_053109.1:g.25120_25121insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_053109.1:g.25120_25121insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_053109.1:g.25120_25121insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_053109.1:g.25120_25121insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_053109.1:g.25120_25121insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_053109.1:g.25120_25121insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_053109.1:g.25120_25121insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_053109.1:g.25120_25121insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_053109.1:g.25097_25120T[26]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_053109.1:g.25097_25120T[40]CTTTTTTTTTTTTTTTTTTTTTTTTT[1]

Select item 14908245086.

rs1490824508 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:28637148 (GRCh38)
17:26964166 (GRCh37)
Canonical SPDI:: NC_000017.11:28637147:G:A
Gene:: KIAA0100 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,genic_downstream_transcript_variant,5_prime_UTR_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000051/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000017.11:g.28637148G>A, NC_000017.10:g.26964166G>A, NG_053109.1:g.13307C>T, NM_014680.5:c.1794C>T, NM_014680.4:c.1794C>T, NM_014680.3:c.1794C>T, NM_001321560.2:c.1794C>T, NM_001321560.1:c.1794C>T, NM_001363829.1:c.-400C>T, NM_001363827.1:c.789C>T, NM_001363826.1:c.1365C>T, XM_047437146.1:c.1794C>T

Select item 14906775807.

rs1490677580 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:28635212 (GRCh38)
17:26962230 (GRCh37)
Canonical SPDI:: NC_000017.11:28635211:A:G
Gene:: KIAA0100 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000017.11:g.28635212A>G, NC_000017.10:g.26962230A>G, NG_053109.1:g.15243T>C, NM_014680.5:c.2375T>C, NM_014680.4:c.2375T>C, NM_014680.3:c.2375T>C, NM_001321560.2:c.2375T>C, NM_001321560.1:c.2375T>C, NM_001363829.1:c.350T>C, NM_001363827.1:c.1370T>C, NM_001363826.1:c.1946T>C, NM_001363828.1:c.350T>C, XM_047437146.1:c.2375T>C, NP_055495.2:p.Leu792Pro, NP_001308489.1:p.Leu792Pro, NP_001350758.1:p.Leu117Pro, NP_001350756.1:p.Leu457Pro, NP_001350755.1:p.Leu649Pro, NP_001350757.1:p.Leu117Pro, XP_047293102.1:p.Leu792Pro

Select item 14906302308.

rs1490630230 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:28648816 (GRCh38)
17:26975834 (GRCh37)
Canonical SPDI:: NC_000017.11:28648815:T:C
Gene:: SDF2 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.28648816T>C, NC_000017.10:g.26975834T>C, NG_053109.1:g.1639A>G, NM_006923.4:c.*173A>G, NM_006923.3:c.*173A>G, XM_011525106.3:c.*173A>G, XM_011525106.2:c.*173A>G, XM_011525106.1:c.*173A>G, NR_045585.2:n.807A>G, NR_045585.1:n.802A>G, XM_047436516.1:c.*173A>G

Select item 14905346539.

rs1490534653 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 17:28634330 (GRCh38)
17:26961348 (GRCh37)
Canonical SPDI:: NC_000017.11:28634328:TAT:T
Gene:: KIAA0100 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.28634330_28634331del, NC_000017.10:g.26961348_26961349del, NG_053109.1:g.16125_16126del

Select item 149051742810.

rs1490517428 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:28647961 (GRCh38)
17:26974979 (GRCh37)
Canonical SPDI:: NC_000017.11:28647960:G:A
Gene:: SDF2 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000017.11:g.28647961G>A, NC_000017.10:g.26974979G>A, NG_053109.1:g.2494C>T

Select item 149049645311.

rs1490496453 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 17:28649899 (GRCh38)
17:26976918 (GRCh37)
Canonical SPDI:: NC_000017.11:28649899::A
Gene:: SDF2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000186/3 (ALFA)
A=0.000123/13 (GnomAD)
HGVS:: NC_000017.11:g.28649899_28649900insA, NC_000017.10:g.26976917_26976918insA, NG_053109.1:g.555_556insT

Select item 149045239712.

rs1490452397 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:28641209 (GRCh38)
17:26968227 (GRCh37)
Canonical SPDI:: NC_000017.11:28641208:T:C
Gene:: KIAA0100 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.28641209T>C, NC_000017.10:g.26968227T>C, NG_053109.1:g.9246A>G

Select item 149041896713.

rs1490418967 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:28626543 (GRCh38)
17:26953561 (GRCh37)
Canonical SPDI:: NC_000017.11:28626542:G:A
Gene:: KIAA0100 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.28626543G>A, NC_000017.10:g.26953561G>A, NG_053109.1:g.23912C>T

Select item 149013904514.

rs1490139045 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:28649352 (GRCh38)
17:26976370 (GRCh37)
Canonical SPDI:: NC_000017.11:28649351:A:G
Gene:: SDF2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.28649352A>G, NC_000017.10:g.26976370A>G, NG_053109.1:g.1103T>C

Select item 149002627815.

rs1490026278 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:28648293 (GRCh38)
17:26975311 (GRCh37)
Canonical SPDI:: NC_000017.11:28648292:C:T
Gene:: SDF2 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.28648293C>T, NC_000017.10:g.26975311C>T, NG_053109.1:g.2162G>A

Select item 148997221416.

rs1489972214 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:28626934 (GRCh38)
17:26953952 (GRCh37)
Canonical SPDI:: NC_000017.11:28626933:G:A
Gene:: KIAA0100 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.28626934G>A, NC_000017.10:g.26953952G>A, NG_053109.1:g.23521C>T

Select item 148996010817.

rs1489960108 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:28641627 (GRCh38)
17:26968645 (GRCh37)
Canonical SPDI:: NC_000017.11:28641626:C:T
Gene:: KIAA0100 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.28641627C>T, NC_000017.10:g.26968645C>T, NG_053109.1:g.8828G>A

Select item 148982727218.

rs1489827272 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:28638323 (GRCh38)
17:26965341 (GRCh37)
Canonical SPDI:: NC_000017.11:28638322:G:A
Gene:: KIAA0100 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,5_prime_UTR_variant,coding_sequence_variant,stop_gained
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.28638323G>A, NC_000017.10:g.26965341G>A, NG_053109.1:g.12132C>T, NM_014680.5:c.1441C>T, NM_014680.4:c.1441C>T, NM_014680.3:c.1441C>T, NM_001321560.2:c.1441C>T, NM_001321560.1:c.1441C>T, NM_001363829.1:c.-753C>T, NM_001363827.1:c.436C>T, NM_001363826.1:c.1012C>T, NM_001363828.1:c.-379C>T, XM_047437146.1:c.1441C>T, NP_055495.2:p.Gln481Ter, NP_001308489.1:p.Gln481Ter, NP_001350756.1:p.Gln146Ter, NP_001350755.1:p.Gln338Ter, XP_047293102.1:p.Gln481Ter

Select item 148954941819.

rs1489549418 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:28619667 (GRCh38)
17:26946685 (GRCh37)
Canonical SPDI:: NC_000017.11:28619666:T:C
Gene:: KIAA0100 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.28619667T>C, NC_000017.10:g.26946685T>C, NG_053109.1:g.30788A>G, NM_014680.5:c.5629A>G, NM_014680.4:c.5629A>G, NM_014680.3:c.5629A>G, NM_001321560.2:c.5626A>G, NM_001321560.1:c.5626A>G, NM_001363829.1:c.3601A>G, NM_001363827.1:c.4624A>G, NM_001363826.1:c.5200A>G, NM_001363828.1:c.3604A>G, NP_055495.2:p.Asn1877Asp, NP_001308489.1:p.Asn1876Asp, NP_001350758.1:p.Asn1201Asp, NP_001350756.1:p.Asn1542Asp, NP_001350755.1:p.Asn1734Asp, NP_001350757.1:p.Asn1202Asp

Select item 148953791420.

rs1489537914 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:28621380 (GRCh38)
17:26948398 (GRCh37)
Canonical SPDI:: NC_000017.11:28621379:G:A,NC_000017.11:28621379:G:T
Gene:: KIAA0100 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
HGVS:: NC_000017.11:g.28621380G>A, NC_000017.11:g.28621380G>T, NC_000017.10:g.26948398G>A, NC_000017.10:g.26948398G>T, NG_053109.1:g.29075C>T, NG_053109.1:g.29075C>A

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