SNP Links for Nucleotide (Select 224809298) - SNP

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Select item 14915732991.

rs1491573299 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AGAAAGAAA [Show Flanks]
Chromosome:: 15:48119825 (GRCh38)
15:48412023 (GRCh37)
Canonical SPDI:: NC_000015.10:48119825:AAAAGAAAGAAA:AAAAGAAAGAAAAGAAAGAAA
Gene:: SLC24A5 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AAAAGAAAGAAAAGAAAGAAA=0.00008/1 (ALFA)
HGVS:: NC_000015.10:g.48119829_48119837dup, NC_000015.9:g.48412026_48412034dup, NG_011500.1:g.3858_3866dup

Select item 14915144522.

rs1491514452 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 15:48119858 (GRCh38)
15:48412055 (GRCh37)
Canonical SPDI:: NC_000015.10:48119856:AGA:A
Gene:: SLC24A5 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000015.10:g.48119858_48119859del, NC_000015.9:g.48412055_48412056del, NG_011500.1:g.3887_3888del

Select item 14915076773.

rs1491507677 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GAA,GAAAAAGAA,GAAAAAGAAAAGAA,GAAAAGAAAGAAAGAA,GAAAAGAAAGAAAGAAAAAGAA,GAAAAGAAAGAAAGAAAGAA,GAAAAGAAAGAAAGAAAGAAAAAGAA,GAAAGAAAAAGAA,GAAAGAAAAAGAAAAGAA,GAAAGAAAAGAAAGAAAGAAAAAGAA,GAAAGAAAAGAAAGAAAGAAAGAAAAAGAA,GAAAGAAAAGAAAGAAAGAAAGAAAAAGAAAAGAA,GAAAGAAAGAAAAAGAA,GAAAGAAAGAAAAAGAAAAGAA,GAAAGAAAGAAAAGAAAGAAAGAAAGAAAAAGAAAAGAA,GAAAGAAAGAAAGAAAAGAAAGAAAGAAAGAAAAAGAA,GAAAGAAAGAAAGAAAGAAAAAGAA,GAAAGAAAGAAAGAAAGAAAAGAAAGAAAGAAAGAAAAAGAA,GAAAGAAAGAAAGAAAGAAAGAA,GAAAGAAAGAAAGAAAGAAAGAAAAGAAAGAAAGAAAGAAAAAGAA [Show Flanks]
Chromosome:: 15:48119867 (GRCh38)
15:48412065 (GRCh37)
Canonical SPDI:: NC_000015.10:48119867:AA:AAGAA,NC_000015.10:48119867:AA:AAGAAAAAGAA,NC_000015.10:48119867:AA:AAGAAAAAGAAAAGAA,NC_000015.10:48119867:AA:AAGAAAAGAAAGAAAGAA,NC_000015.10:48119867:AA:AAGAAAAGAAAGAAAGAAAAAGAA,NC_000015.10:48119867:AA:AAGAAAAGAAAGAAAGAAAGAA,NC_000015.10:48119867:AA:AAGAAAAGAAAGAAAGAAAGAAAAAGAA,NC_000015.10:48119867:AA:AAGAAAGAAAAAGAA,NC_000015.10:48119867:AA:AAGAAAGAAAAAGAAAAGAA,NC_000015.10:48119867:AA:AAGAAAGAAAAGAAAGAAAGAAAAAGAA,NC_000015.10:48119867:AA:AAGAAAGAAAAGAAAGAAAGAAAGAAAAAGAA,NC_000015.10:48119867:AA:AAGAAAGAAAAGAAAGAAAGAAAGAAAAAGAAAAGAA,NC_000015.10:48119867:AA:AAGAAAGAAAGAAAAAGAA,NC_000015.10:48119867:AA:AAGAAAGAAAGAAAAAGAAAAGAA,NC_000015.10:48119867:AA:AAGAAAGAAAGAAAAGAAAGAAAGAAAGAAAAAGAAAAGAA,NC_000015.10:48119867:AA:AAGAAAGAAAGAAAGAAAAGAAAGAAAGAAAGAAAAAGAA,NC_000015.10:48119867:AA:AAGAAAGAAAGAAAGAAAGAAAAAGAA,NC_000015.10:48119867:AA:AAGAAAGAAAGAAAGAAAGAAAAGAAAGAAAGAAAGAAAAAGAA,NC_000015.10:48119867:AA:AAGAAAGAAAGAAAGAAAGAAAGAA,NC_000015.10:48119867:AA:AAGAAAGAAAGAAAGAAAGAAAGAAAAGAAAGAAAGAAAGAAAAAGAA
Gene:: SLC24A5 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAGAAAAGAAAGAAAGAA=0./0 (ALFA)
AAG=0.00012/2 (TOMMO)
HGVS:: NC_000015.10:g.48119869_48119870insGAA, NC_000015.10:g.48119869_48119870insGAAAAAGAA, NC_000015.10:g.48119868_48119869AAGAAA[2]AGAA[1], NC_000015.10:g.48119868_48119869AAGAA[2]AGAA[2], NC_000015.10:g.48119868_48119869AAGAA[2]AGAA[2]AAAGAA[1], NC_000015.10:g.48119868_48119869AAGAA[2]AGAA[3], NC_000015.10:g.48119868_48119869AAGAA[2]AGAA[3]AAAGAA[1], NC_000015.10:g.48119868_48119869AAGA[2]A[4]GAA[1], NC_000015.10:g.48119868_48119869AAGA[2]AAAAG[2]AA[1], NC_000015.10:g.48119868_48119869AAGAAAGAA[2]AGAAAAAGAA[1], NC_000015.10:g.48119868_48119869AAGAAAGAA[2]AGAA[2]AAAGAA[1], NC_000015.10:g.48119868_48119869AAGAAAGAA[2]AGAA[2]AAAGA[2]A[1], NC_000015.10:g.48119868_48119869AAGA[3]A[4]GAA[1], NC_000015.10:g.48119868_48119869AAGA[3]AAAAG[2]AA[1], NC_000015.10:g.48119868_48119869AAGAAAGAAAGAA[2]AGAAAA[2]GAA[1], NC_000015.10:g.48119868_48119869AAGAAAGAAAGAAAGAA[2]AAAGAA[1], NC_000015.10:g.48119868_48119869AAGA[5]A[4]GAA[1], NC_000015.10:g.48119868_48119869AAGA[5]AAAG[4]A[5]GAA[1], NC_000015.10:g.48119868_48119869AAGA[6]A[1], NC_000015.10:g.48119868_48119869AAGA[6]AAAG[4]A[5]GAA[1], NC_000015.9:g.48412066_48412067insGAA, NC_000015.9:g.48412066_48412067insGAAAAAGAA, NC_000015.9:g.48412065_48412066AAGAAA[2]AGAA[1], NC_000015.9:g.48412065_48412066AAGAA[2]AGAA[2], NC_000015.9:g.48412065_48412066AAGAA[2]AGAA[2]AAAGAA[1], NC_000015.9:g.48412065_48412066AAGAA[2]AGAA[3], NC_000015.9:g.48412065_48412066AAGAA[2]AGAA[3]AAAGAA[1], NC_000015.9:g.48412065_48412066AAGA[2]A[4]GAA[1], NC_000015.9:g.48412065_48412066AAGA[2]AAAAG[2]AA[1], NC_000015.9:g.48412065_48412066AAGAAAGAA[2]AGAAAAAGAA[1], NC_000015.9:g.48412065_48412066AAGAAAGAA[2]AGAA[2]AAAGAA[1], NC_000015.9:g.48412065_48412066AAGAAAGAA[2]AGAA[2]AAAGA[2]A[1], NC_000015.9:g.48412065_48412066AAGA[3]A[4]GAA[1], NC_000015.9:g.48412065_48412066AAGA[3]AAAAG[2]AA[1], NC_000015.9:g.48412065_48412066AAGAAAGAAAGAA[2]AGAAAA[2]GAA[1], NC_000015.9:g.48412065_48412066AAGAAAGAAAGAAAGAA[2]AAAGAA[1], NC_000015.9:g.48412065_48412066AAGA[5]A[4]GAA[1], NC_000015.9:g.48412065_48412066AAGA[5]AAAG[4]A[5]GAA[1], NC_000015.9:g.48412065_48412066AAGA[6]A[1], NC_000015.9:g.48412065_48412066AAGA[6]AAAG[4]A[5]GAA[1], NG_011500.1:g.3898_3899insGAA, NG_011500.1:g.3898_3899insGAAAAAGAA, NG_011500.1:g.3897_3898AAGAAA[2]AGAA[1], NG_011500.1:g.3897_3898AAGAA[2]AGAA[2], NG_011500.1:g.3897_3898AAGAA[2]AGAA[2]AAAGAA[1], NG_011500.1:g.3897_3898AAGAA[2]AGAA[3], NG_011500.1:g.3897_3898AAGAA[2]AGAA[3]AAAGAA[1], NG_011500.1:g.3897_3898AAGA[2]A[4]GAA[1], NG_011500.1:g.3897_3898AAGA[2]AAAAG[2]AA[1], NG_011500.1:g.3897_3898AAGAAAGAA[2]AGAAAAAGAA[1], NG_011500.1:g.3897_3898AAGAAAGAA[2]AGAA[2]AAAGAA[1], NG_011500.1:g.3897_3898AAGAAAGAA[2]AGAA[2]AAAGA[2]A[1], NG_011500.1:g.3897_3898AAGA[3]A[4]GAA[1], NG_011500.1:g.3897_3898AAGA[3]AAAAG[2]AA[1], NG_011500.1:g.3897_3898AAGAAAGAAAGAA[2]AGAAAA[2]GAA[1], NG_011500.1:g.3897_3898AAGAAAGAAAGAAAGAA[2]AAAGAA[1], NG_011500.1:g.3897_3898AAGA[5]A[4]GAA[1], NG_011500.1:g.3897_3898AAGA[5]AAAG[4]A[5]GAA[1], NG_011500.1:g.3897_3898AAGA[6]A[1], NG_011500.1:g.3897_3898AAGA[6]AAAG[4]A[5]GAA[1]

Select item 14914763744.

rs1491476374 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTTATATAT [Show Flanks]
Chromosome:: 15:48117799 (GRCh38)
15:48409997 (GRCh37)
Canonical SPDI:: NC_000015.10:48117799:TATATAT:TATATATGTTATATAT
Validated:: by frequency,by alfa
MAF:: TATATATGTTATATAT=0./0 (ALFA)
HGVS:: NC_000015.10:g.48117800_48117806TA[3]TGTTATATAT[1], NC_000015.9:g.48409997_48410003TA[3]TGTTATATAT[1], NG_011500.1:g.1829_1835TA[3]TGTTATATAT[1]

Select item 14911523565.

rs1491152356 has merged into rs202102577 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA [Show Flanks]
Chromosome:: 15:48141604 (GRCh38)
15:48433801 (GRCh37)
Canonical SPDI:: NC_000015.10:48141593:AAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000015.10:48141593:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000015.10:48141593:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000015.10:48141593:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000015.10:48141593:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000015.10:48141593:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
Gene:: MYEF2 (Varview), SLC24A5 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
-=0.25/10 (GENOME_DK)
HGVS:: NC_000015.10:g.48141604_48141609del, NC_000015.10:g.48141607_48141609del, NC_000015.10:g.48141608_48141609del, NC_000015.10:g.48141609del, NC_000015.10:g.48141609dup, NC_000015.10:g.48141608_48141609dup, NC_000015.9:g.48433801_48433806del, NC_000015.9:g.48433804_48433806del, NC_000015.9:g.48433805_48433806del, NC_000015.9:g.48433806del, NC_000015.9:g.48433806dup, NC_000015.9:g.48433805_48433806dup, NG_011500.1:g.25633_25638del, NG_011500.1:g.25636_25638del, NG_011500.1:g.25637_25638del, NG_011500.1:g.25638del, NG_011500.1:g.25638dup, NG_011500.1:g.25637_25638dup, NM_016132.5:c.*1309_*1314del, NM_016132.5:c.*1312_*1314del, NM_016132.5:c.*1313_*1314del, NM_016132.5:c.*1314del, NM_016132.5:c.*1314dup, NM_016132.5:c.*1313_*1314dup, NM_016132.4:c.*1309_*1314del, NM_016132.4:c.*1312_*1314del, NM_016132.4:c.*1313_*1314del, NM_016132.4:c.*1314del, NM_016132.4:c.*1314dup, NM_016132.4:c.*1313_*1314dup, NM_016132.3:c.*1309_*1314del, NM_016132.3:c.*1312_*1314del, NM_016132.3:c.*1313_*1314del, NM_016132.3:c.*1314del, NM_016132.3:c.*1314dup, NM_016132.3:c.*1313_*1314dup, XM_005254422.5:c.*1309_*1314del, XM_005254422.5:c.*1312_*1314del, XM_005254422.5:c.*1313_*1314del, XM_005254422.5:c.*1314del, XM_005254422.5:c.*1314dup, XM_005254422.5:c.*1313_*1314dup, XM_005254422.4:c.*1309_*1314del, XM_005254422.4:c.*1312_*1314del, XM_005254422.4:c.*1313_*1314del, XM_005254422.4:c.*1314del, XM_005254422.4:c.*1314dup, XM_005254422.4:c.*1313_*1314dup, XM_005254422.3:c.*1309_*1314del, XM_005254422.3:c.*1312_*1314del, XM_005254422.3:c.*1313_*1314del, XM_005254422.3:c.*1314del, XM_005254422.3:c.*1314dup, XM_005254422.3:c.*1313_*1314dup, XM_005254422.2:c.*1309_*1314del, XM_005254422.2:c.*1312_*1314del, XM_005254422.2:c.*1313_*1314del, XM_005254422.2:c.*1314del, XM_005254422.2:c.*1314dup, XM_005254422.2:c.*1313_*1314dup, XM_005254422.1:c.*1309_*1314del, XM_005254422.1:c.*1312_*1314del, XM_005254422.1:c.*1313_*1314del, XM_005254422.1:c.*1314del, XM_005254422.1:c.*1314dup, XM_005254422.1:c.*1313_*1314dup, XM_005254425.5:c.*1464_*1469del, XM_005254425.5:c.*1467_*1469del, XM_005254425.5:c.*1468_*1469del, XM_005254425.5:c.*1469del, XM_005254425.5:c.*1469dup, XM_005254425.5:c.*1468_*1469dup, XM_005254425.4:c.*1464_*1469del, XM_005254425.4:c.*1467_*1469del, XM_005254425.4:c.*1468_*1469del, XM_005254425.4:c.*1469del, XM_005254425.4:c.*1469dup, XM_005254425.4:c.*1468_*1469dup, XM_005254425.3:c.*1464_*1469del, XM_005254425.3:c.*1467_*1469del, XM_005254425.3:c.*1468_*1469del, XM_005254425.3:c.*1469del, XM_005254425.3:c.*1469dup, XM_005254425.3:c.*1468_*1469dup, XM_005254425.2:c.*1464_*1469del, XM_005254425.2:c.*1467_*1469del, XM_005254425.2:c.*1468_*1469del, XM_005254425.2:c.*1469del, XM_005254425.2:c.*1469dup, XM_005254425.2:c.*1468_*1469dup, XM_005254425.1:c.*1464_*1469del, XM_005254425.1:c.*1467_*1469del, XM_005254425.1:c.*1468_*1469del, XM_005254425.1:c.*1469del, XM_005254425.1:c.*1469dup, XM_005254425.1:c.*1468_*1469dup, XM_005254424.5:c.*1309_*1314del, XM_005254424.5:c.*1312_*1314del, XM_005254424.5:c.*1313_*1314del, XM_005254424.5:c.*1314del, XM_005254424.5:c.*1314dup, XM_005254424.5:c.*1313_*1314dup, XM_005254424.4:c.*1309_*1314del, XM_005254424.4:c.*1312_*1314del, XM_005254424.4:c.*1313_*1314del, XM_005254424.4:c.*1314del, XM_005254424.4:c.*1314dup, XM_005254424.4:c.*1313_*1314dup, XM_005254424.3:c.*1309_*1314del, XM_005254424.3:c.*1312_*1314del, XM_005254424.3:c.*1313_*1314del, XM_005254424.3:c.*1314del, XM_005254424.3:c.*1314dup, XM_005254424.3:c.*1313_*1314dup, XM_005254424.2:c.*1309_*1314del, XM_005254424.2:c.*1312_*1314del, XM_005254424.2:c.*1313_*1314del, XM_005254424.2:c.*1314del, XM_005254424.2:c.*1314dup, XM_005254424.2:c.*1313_*1314dup, XM_005254424.1:c.*1309_*1314del, XM_005254424.1:c.*1312_*1314del, XM_005254424.1:c.*1313_*1314del, XM_005254424.1:c.*1314del, XM_005254424.1:c.*1314dup, XM_005254424.1:c.*1313_*1314dup, XM_011521657.3:c.*1309_*1314del, XM_011521657.3:c.*1312_*1314del, XM_011521657.3:c.*1313_*1314del, XM_011521657.3:c.*1314del, XM_011521657.3:c.*1314dup, XM_011521657.3:c.*1313_*1314dup, XM_011521657.2:c.*1309_*1314del, XM_011521657.2:c.*1312_*1314del, XM_011521657.2:c.*1313_*1314del, XM_011521657.2:c.*1314del, XM_011521657.2:c.*1314dup, XM_011521657.2:c.*1313_*1314dup, XM_011521657.1:c.*1309_*1314del, XM_011521657.1:c.*1312_*1314del, XM_011521657.1:c.*1313_*1314del, XM_011521657.1:c.*1314del, XM_011521657.1:c.*1314dup, XM_011521657.1:c.*1313_*1314dup, NM_001301210.2:c.*1309_*1314del, NM_001301210.2:c.*1312_*1314del, NM_001301210.2:c.*1313_*1314del, NM_001301210.2:c.*1314del, NM_001301210.2:c.*1314dup, NM_001301210.2:c.*1313_*1314dup, NM_001301210.1:c.*1309_*1314del, NM_001301210.1:c.*1312_*1314del, NM_001301210.1:c.*1313_*1314del, NM_001301210.1:c.*1314del, NM_001301210.1:c.*1314dup, NM_001301210.1:c.*1313_*1314dup, XM_017022285.2:c.*1464_*1469del, XM_017022285.2:c.*1467_*1469del, XM_017022285.2:c.*1468_*1469del, XM_017022285.2:c.*1469del, XM_017022285.2:c.*1469dup, XM_017022285.2:c.*1468_*1469dup, XM_017022285.1:c.*1464_*1469del, XM_017022285.1:c.*1467_*1469del, XM_017022285.1:c.*1468_*1469del, XM_017022285.1:c.*1469del, XM_017022285.1:c.*1469dup, XM_017022285.1:c.*1468_*1469dup, XM_017022286.2:c.*1464_*1469del, XM_017022286.2:c.*1467_*1469del, XM_017022286.2:c.*1468_*1469del, XM_017022286.2:c.*1469del, XM_017022286.2:c.*1469dup, XM_017022286.2:c.*1468_*1469dup, XM_017022286.1:c.*1464_*1469del, XM_017022286.1:c.*1467_*1469del, XM_017022286.1:c.*1468_*1469del, XM_017022286.1:c.*1469del, XM_017022286.1:c.*1469dup, XM_017022286.1:c.*1468_*1469dup, XM_017022287.2:c.*1464_*1469del, XM_017022287.2:c.*1467_*1469del, XM_017022287.2:c.*1468_*1469del, XM_017022287.2:c.*1469del, XM_017022287.2:c.*1469dup, XM_017022287.2:c.*1468_*1469dup, XM_017022287.1:c.*1464_*1469del, XM_017022287.1:c.*1467_*1469del, XM_017022287.1:c.*1468_*1469del, XM_017022287.1:c.*1469del, XM_017022287.1:c.*1469dup, XM_017022287.1:c.*1468_*1469dup, XM_047432635.1:c.*1309_*1314del, XM_047432635.1:c.*1312_*1314del, XM_047432635.1:c.*1313_*1314del, XM_047432635.1:c.*1314del, XM_047432635.1:c.*1314dup, XM_047432635.1:c.*1313_*1314dup, XM_047432636.1:c.*1309_*1314del, XM_047432636.1:c.*1312_*1314del, XM_047432636.1:c.*1313_*1314del, XM_047432636.1:c.*1314del, XM_047432636.1:c.*1314dup, XM_047432636.1:c.*1313_*1314dup

Select item 14911507846.

rs1491150784 has merged into rs367570700 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA [Show Flanks]
Chromosome:: 15:48119870 (GRCh38)
15:48412067 (GRCh37)
Canonical SPDI:: NC_000015.10:48119866:AAAAA:AAA,NC_000015.10:48119866:AAAAA:AAAA,NC_000015.10:48119866:AAAAA:AAAAAA
Gene:: SLC24A5 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.48119870_48119871del, NC_000015.10:g.48119871del, NC_000015.10:g.48119871dup, NC_000015.9:g.48412067_48412068del, NC_000015.9:g.48412068del, NC_000015.9:g.48412068dup, NG_011500.1:g.3899_3900del, NG_011500.1:g.3900del, NG_011500.1:g.3900dup

Select item 14909527407.

rs1490952740 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 15:48134123 (GRCh38)
15:48426320 (GRCh37)
Canonical SPDI:: NC_000015.10:48134122:T:A
Gene:: SLC24A5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.48134123T>A, NC_000015.9:g.48426320T>A, NG_011500.1:g.18152T>A

Select item 14907149688.

rs1490714968 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 15:48143716 (GRCh38)
15:48435913 (GRCh37)
Canonical SPDI:: NC_000015.10:48143715:C:G
Gene:: MYEF2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000029/4 (GnomAD)
HGVS:: NC_000015.10:g.48143716C>G, NC_000015.9:g.48435913C>G, NG_011500.1:g.27745C>G

Select item 14906439999.

rs1490643999 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 15:48119371 (GRCh38)
15:48411568 (GRCh37)
Canonical SPDI:: NC_000015.10:48119370:C:G,NC_000015.10:48119370:C:T
Gene:: SLC24A5 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000015.10:g.48119371C>G, NC_000015.10:g.48119371C>T, NC_000015.9:g.48411568C>G, NC_000015.9:g.48411568C>T, NG_011500.1:g.3400C>G, NG_011500.1:g.3400C>T

Select item 149059083810.

rs1490590838 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 15:48119129 (GRCh38)
15:48411326 (GRCh37)
Canonical SPDI:: NC_000015.10:48119128:T:G
Gene:: SLC24A5 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000023/6 (TOPMED)
HGVS:: NC_000015.10:g.48119129T>G, NC_000015.9:g.48411326T>G, NG_011500.1:g.3158T>G

Select item 149047600411.

rs1490476004 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:48135819 (GRCh38)
15:48428016 (GRCh37)
Canonical SPDI:: NC_000015.10:48135818:C:T
Gene:: MYEF2 (Varview), SLC24A5 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.48135819C>T, NC_000015.9:g.48428016C>T, NG_011500.1:g.19848C>T, NM_016132.5:c.*7089G>A, XM_005254422.5:c.*7089G>A, XM_005254425.5:c.*7244G>A, XM_005254425.4:c.*7244G>A, XM_005254424.5:c.*7089G>A, XM_011521657.3:c.*7089G>A, NM_001301210.2:c.*7089G>A, XM_017022285.2:c.*7244G>A, XM_017022285.1:c.*7244G>A, XM_017022286.2:c.*7244G>A, XM_017022286.1:c.*7244G>A, XM_017022287.2:c.*7244G>A, XM_017022287.1:c.*7244G>A, XM_047432635.1:c.*7089G>A, XM_047432636.1:c.*7089G>A

Select item 149045179412.

rs1490451794 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:48121997 (GRCh38)
15:48414194 (GRCh37)
Canonical SPDI:: NC_000015.10:48121996:G:A
Gene:: SLC24A5 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.48121997G>A, NC_000015.9:g.48414194G>A, NG_011500.1:g.6026G>A, NM_205850.3:c.262G>A, NM_205850.2:c.262G>A, XM_047432394.1:c.262G>A, NP_995322.1:p.Asp88Asn, XP_047288350.1:p.Asp88Asn

Select item 149019879913.

rs1490198799 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:48118218 (GRCh38)
15:48410415 (GRCh37)
Canonical SPDI:: NC_000015.10:48118217:G:A
Validated:: by frequency,by alfa
MAF:: A=0.0065/29 (ALFA)
HGVS:: NC_000015.10:g.48118218G>A, NC_000015.9:g.48410415G>A, NG_011500.1:g.2247G>A

Select item 149014594214.

rs1490145942 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:48134752 (GRCh38)
15:48426949 (GRCh37)
Canonical SPDI:: NC_000015.10:48134751:T:C
Gene:: MYEF2 (Varview), SLC24A5 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.48134752T>C, NC_000015.9:g.48426949T>C, NG_011500.1:g.18781T>C, NM_016132.5:c.*8156A>G, XM_005254422.5:c.*8156A>G, XM_005254425.5:c.*8311A>G, XM_005254425.4:c.*8311A>G, XM_005254424.5:c.*8156A>G, XM_011521657.3:c.*8156A>G, NM_001301210.2:c.*8156A>G, XM_017022285.2:c.*8311A>G, XM_017022285.1:c.*8311A>G, XM_017022286.2:c.*8311A>G, XM_017022286.1:c.*8311A>G, XM_017022287.2:c.*8311A>G, XM_017022287.1:c.*8311A>G, XM_047432635.1:c.*8156A>G, XM_047432636.1:c.*8156A>G

Select item 149009545915.

rs1490095459 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:48140323 (GRCh38)
15:48432520 (GRCh37)
Canonical SPDI:: NC_000015.10:48140322:T:C
Gene:: MYEF2 (Varview), SLC24A5 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000162/3 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000021/3 (GnomAD)
C=0.000446/2 (Estonian)
HGVS:: NC_000015.10:g.48140323T>C, NC_000015.9:g.48432520T>C, NG_011500.1:g.24352T>C, NM_016132.5:c.*2585A>G, NM_016132.4:c.*2585A>G, NM_016132.3:c.*2585A>G, XM_005254422.5:c.*2585A>G, XM_005254422.4:c.*2585A>G, XM_005254422.3:c.*2585A>G, XM_005254422.2:c.*2585A>G, XM_005254422.1:c.*2585A>G, XM_005254425.5:c.*2740A>G, XM_005254425.4:c.*2740A>G, XM_005254425.3:c.*2740A>G, XM_005254425.2:c.*2740A>G, XM_005254425.1:c.*2740A>G, XM_005254424.5:c.*2585A>G, XM_005254424.4:c.*2585A>G, XM_005254424.3:c.*2585A>G, XM_005254424.2:c.*2585A>G, XM_005254424.1:c.*2585A>G, XM_011521657.3:c.*2585A>G, XM_011521657.2:c.*2585A>G, XM_011521657.1:c.*2585A>G, NM_001301210.2:c.*2585A>G, NM_001301210.1:c.*2585A>G, XM_017022285.2:c.*2740A>G, XM_017022285.1:c.*2740A>G, XM_017022286.2:c.*2740A>G, XM_017022286.1:c.*2740A>G, XM_017022287.2:c.*2740A>G, XM_017022287.1:c.*2740A>G, XM_047432635.1:c.*2585A>G, XM_047432636.1:c.*2585A>G

Select item 149008028716.

rs1490080287 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:48137142 (GRCh38)
15:48429339 (GRCh37)
Canonical SPDI:: NC_000015.10:48137141:A:G
Gene:: MYEF2 (Varview), SLC24A5 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.48137142A>G, NC_000015.9:g.48429339A>G, NG_011500.1:g.21171A>G, NM_016132.5:c.*5766T>C, XM_005254422.5:c.*5766T>C, XM_005254425.5:c.*5921T>C, XM_005254425.4:c.*5921T>C, XM_005254424.5:c.*5766T>C, XM_011521657.3:c.*5766T>C, NM_001301210.2:c.*5766T>C, XM_017022285.2:c.*5921T>C, XM_017022285.1:c.*5921T>C, XM_017022286.2:c.*5921T>C, XM_017022286.1:c.*5921T>C, XM_017022287.2:c.*5921T>C, XM_017022287.1:c.*5921T>C, XM_047432635.1:c.*5766T>C, XM_047432636.1:c.*5766T>C

Select item 149000417717.

rs1490004177 has merged into rs1320143133 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT [Show Flanks]
Chromosome:: 15:48125207 (GRCh38)
15:48417404 (GRCh37)
Canonical SPDI:: NC_000015.10:48125206:TTTTTT:TTTTT,NC_000015.10:48125206:TTTTTT:TTTTTTT
Gene:: SLC24A5 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTT=0./0 (ALFA)
HGVS:: NC_000015.10:g.48125212del, NC_000015.10:g.48125212dup, NC_000015.9:g.48417409del, NC_000015.9:g.48417409dup, NG_011500.1:g.9241del, NG_011500.1:g.9241dup

Select item 148991616918.

rs1489916169 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:48138570 (GRCh38)
15:48430767 (GRCh37)
Canonical SPDI:: NC_000015.10:48138569:G:A
Gene:: MYEF2 (Varview), SLC24A5 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000015.10:g.48138570G>A, NC_000015.9:g.48430767G>A, NG_011500.1:g.22599G>A, NM_016132.5:c.*4338C>T, XM_005254422.5:c.*4338C>T, XM_005254425.5:c.*4493C>T, XM_005254425.4:c.*4493C>T, XM_005254424.5:c.*4338C>T, XM_011521657.3:c.*4338C>T, NM_001301210.2:c.*4338C>T, XM_017022285.2:c.*4493C>T, XM_017022285.1:c.*4493C>T, XM_017022286.2:c.*4493C>T, XM_017022286.1:c.*4493C>T, XM_017022287.2:c.*4493C>T, XM_017022287.1:c.*4493C>T, XM_047432635.1:c.*4338C>T, XM_047432636.1:c.*4338C>T

Select item 148982559119.

rs1489825591 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 15:48120100 (GRCh38)
15:48412297 (GRCh37)
Canonical SPDI:: NC_000015.10:48120099:C:A
Gene:: SLC24A5 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.48120100C>A, NC_000015.9:g.48412297C>A, NG_011500.1:g.4129C>A

Select item 148979388620.

rs1489793886 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:48136517 (GRCh38)
15:48428714 (GRCh37)
Canonical SPDI:: NC_000015.10:48136516:C:T
Gene:: MYEF2 (Varview), SLC24A5 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.48136517C>T, NC_000015.9:g.48428714C>T, NG_011500.1:g.20546C>T, NM_016132.5:c.*6391G>A, XM_005254422.5:c.*6391G>A, XM_005254425.5:c.*6546G>A, XM_005254425.4:c.*6546G>A, XM_005254424.5:c.*6391G>A, XM_011521657.3:c.*6391G>A, NM_001301210.2:c.*6391G>A, XM_017022285.2:c.*6546G>A, XM_017022285.1:c.*6546G>A, XM_017022286.2:c.*6546G>A, XM_017022286.1:c.*6546G>A, XM_017022287.2:c.*6546G>A, XM_017022287.1:c.*6546G>A, XM_047432635.1:c.*6391G>A, XM_047432636.1:c.*6391G>A

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