SNP Links for Nucleotide (Select 259013236) - SNP

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Select item 14915483741.

rs1491548374 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AGAAGGAAGGAAGGAA [Show Flanks]
Chromosome:: 19:17889425 (GRCh38)
19:18000235 (GRCh37)
Canonical SPDI:: NC_000019.10:17889425:GAAGGAAGGAAGGAA:GAAGGAAGGAAGGAAAGAAGGAAGGAAGGAA
Gene:: SLC5A5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GAAGGAAGGAAGGAAAGAAGGAAGGAAGGAA=0./0 (ALFA)
GAAGGAAGGAAGGAAA=0.000016/2 (GnomAD)
HGVS:: NC_000019.10:g.17889426_17889440GAAG[3]GAAAGAAGGAAGGAAGGAA[1], NC_000019.9:g.18000235_18000249GAAG[3]GAAAGAAGGAAGGAAGGAA[1], NG_012930.1:g.22454_22468GAAG[3]GAAAGAAGGAAGGAAGGAA[1]

Select item 14915252892.

rs1491525289 has merged into rs57702688 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTT>-,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 19:17867642 (GRCh38)
19:17978451 (GRCh37)
Canonical SPDI:: NC_000019.10:17867632:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000019.10:17867632:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:17867632:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:17867632:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:17867632:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:17867632:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:17867632:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:17867632:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:17867632:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:17867632:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:17867632:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:17867632:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:17867632:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:17867632:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:17867632:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:17867632:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:17867632:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:17867632:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:17867632:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:17867632:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000019.10:g.17867642_17867655del, NC_000019.10:g.17867645_17867655del, NC_000019.10:g.17867646_17867655del, NC_000019.10:g.17867647_17867655del, NC_000019.10:g.17867649_17867655del, NC_000019.10:g.17867650_17867655del, NC_000019.10:g.17867651_17867655del, NC_000019.10:g.17867652_17867655del, NC_000019.10:g.17867653_17867655del, NC_000019.10:g.17867654_17867655del, NC_000019.10:g.17867655del, NC_000019.10:g.17867655dup, NC_000019.10:g.17867654_17867655dup, NC_000019.10:g.17867653_17867655dup, NC_000019.10:g.17867652_17867655dup, NC_000019.10:g.17867651_17867655dup, NC_000019.10:g.17867650_17867655dup, NC_000019.10:g.17867649_17867655dup, NC_000019.10:g.17867655_17867656insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.17867655_17867656insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.17978451_17978464del, NC_000019.9:g.17978454_17978464del, NC_000019.9:g.17978455_17978464del, NC_000019.9:g.17978456_17978464del, NC_000019.9:g.17978458_17978464del, NC_000019.9:g.17978459_17978464del, NC_000019.9:g.17978460_17978464del, NC_000019.9:g.17978461_17978464del, NC_000019.9:g.17978462_17978464del, NC_000019.9:g.17978463_17978464del, NC_000019.9:g.17978464del, NC_000019.9:g.17978464dup, NC_000019.9:g.17978463_17978464dup, NC_000019.9:g.17978462_17978464dup, NC_000019.9:g.17978461_17978464dup, NC_000019.9:g.17978460_17978464dup, NC_000019.9:g.17978459_17978464dup, NC_000019.9:g.17978458_17978464dup, NC_000019.9:g.17978464_17978465insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.17978464_17978465insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_012930.1:g.670_683del, NG_012930.1:g.673_683del, NG_012930.1:g.674_683del, NG_012930.1:g.675_683del, NG_012930.1:g.677_683del, NG_012930.1:g.678_683del, NG_012930.1:g.679_683del, NG_012930.1:g.680_683del, NG_012930.1:g.681_683del, NG_012930.1:g.682_683del, NG_012930.1:g.683del, NG_012930.1:g.683dup, NG_012930.1:g.682_683dup, NG_012930.1:g.681_683dup, NG_012930.1:g.680_683dup, NG_012930.1:g.679_683dup, NG_012930.1:g.678_683dup, NG_012930.1:g.677_683dup, NG_012930.1:g.683_684insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_012930.1:g.683_684insTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14914693773.

rs1491469377 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TAT [Show Flanks]
Chromosome:: 19:17888620 (GRCh38)
19:17999430 (GRCh37)
Canonical SPDI:: NC_000019.10:17888620:AT:ATTAT
Gene:: SLC5A5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ATTAT=0./0 (ALFA)
ATT=0.00046/33 (GnomAD)
HGVS:: NC_000019.10:g.17888622_17888623insTAT, NC_000019.9:g.17999431_17999432insTAT, NG_012930.1:g.21650_21651insTAT

Select item 14913632374.

rs1491363237 has merged into rs772763011 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 19:17894156 (GRCh38)
19:18004965 (GRCh37)
Canonical SPDI:: NC_000019.10:17894143:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:17894143:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:17894143:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:17894143:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:17894143:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:17894143:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:17894143:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:17894143:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:17894143:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:17894143:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:17894143:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:17894143:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:17894143:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:17894143:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:17894143:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:17894143:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:17894143:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:17894143:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: SLC5A5 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
-=0.000008/2 (TOPMED)
T=0.25/10 (GENOME_DK)
HGVS:: NC_000019.10:g.17894156_17894165del, NC_000019.10:g.17894157_17894165del, NC_000019.10:g.17894158_17894165del, NC_000019.10:g.17894159_17894165del, NC_000019.10:g.17894160_17894165del, NC_000019.10:g.17894161_17894165del, NC_000019.10:g.17894162_17894165del, NC_000019.10:g.17894163_17894165del, NC_000019.10:g.17894164_17894165del, NC_000019.10:g.17894165del, NC_000019.10:g.17894165dup, NC_000019.10:g.17894164_17894165dup, NC_000019.10:g.17894163_17894165dup, NC_000019.10:g.17894162_17894165dup, NC_000019.10:g.17894161_17894165dup, NC_000019.10:g.17894160_17894165dup, NC_000019.10:g.17894159_17894165dup, NC_000019.10:g.17894158_17894165dup, NC_000019.9:g.18004965_18004974del, NC_000019.9:g.18004966_18004974del, NC_000019.9:g.18004967_18004974del, NC_000019.9:g.18004968_18004974del, NC_000019.9:g.18004969_18004974del, NC_000019.9:g.18004970_18004974del, NC_000019.9:g.18004971_18004974del, NC_000019.9:g.18004972_18004974del, NC_000019.9:g.18004973_18004974del, NC_000019.9:g.18004974del, NC_000019.9:g.18004974dup, NC_000019.9:g.18004973_18004974dup, NC_000019.9:g.18004972_18004974dup, NC_000019.9:g.18004971_18004974dup, NC_000019.9:g.18004970_18004974dup, NC_000019.9:g.18004969_18004974dup, NC_000019.9:g.18004968_18004974dup, NC_000019.9:g.18004967_18004974dup, NG_012930.1:g.27184_27193del, NG_012930.1:g.27185_27193del, NG_012930.1:g.27186_27193del, NG_012930.1:g.27187_27193del, NG_012930.1:g.27188_27193del, NG_012930.1:g.27189_27193del, NG_012930.1:g.27190_27193del, NG_012930.1:g.27191_27193del, NG_012930.1:g.27192_27193del, NG_012930.1:g.27193del, NG_012930.1:g.27193dup, NG_012930.1:g.27192_27193dup, NG_012930.1:g.27191_27193dup, NG_012930.1:g.27190_27193dup, NG_012930.1:g.27189_27193dup, NG_012930.1:g.27188_27193dup, NG_012930.1:g.27187_27193dup, NG_012930.1:g.27186_27193dup, NM_000453.3:c.*279_*288del, NM_000453.3:c.*280_*288del, NM_000453.3:c.*281_*288del, NM_000453.3:c.*282_*288del, NM_000453.3:c.*283_*288del, NM_000453.3:c.*284_*288del, NM_000453.3:c.*285_*288del, NM_000453.3:c.*286_*288del, NM_000453.3:c.*287_*288del, NM_000453.3:c.*288del, NM_000453.3:c.*288dup, NM_000453.3:c.*287_*288dup, NM_000453.3:c.*286_*288dup, NM_000453.3:c.*285_*288dup, NM_000453.3:c.*284_*288dup, NM_000453.3:c.*283_*288dup, NM_000453.3:c.*282_*288dup, NM_000453.3:c.*281_*288dup, NM_000453.2:c.*279_*288del, NM_000453.2:c.*280_*288del, NM_000453.2:c.*281_*288del, NM_000453.2:c.*282_*288del, NM_000453.2:c.*283_*288del, NM_000453.2:c.*284_*288del, NM_000453.2:c.*285_*288del, NM_000453.2:c.*286_*288del, NM_000453.2:c.*287_*288del, NM_000453.2:c.*288del, NM_000453.2:c.*288dup, NM_000453.2:c.*287_*288dup, NM_000453.2:c.*286_*288dup, NM_000453.2:c.*285_*288dup, NM_000453.2:c.*284_*288dup, NM_000453.2:c.*283_*288dup, NM_000453.2:c.*282_*288dup, NM_000453.2:c.*281_*288dup, XM_011528193.4:c.*279_*288del, XM_011528193.4:c.*280_*288del, XM_011528193.4:c.*281_*288del, XM_011528193.4:c.*282_*288del, XM_011528193.4:c.*283_*288del, XM_011528193.4:c.*284_*288del, XM_011528193.4:c.*285_*288del, XM_011528193.4:c.*286_*288del, XM_011528193.4:c.*287_*288del, XM_011528193.4:c.*288del, XM_011528193.4:c.*288dup, XM_011528193.4:c.*287_*288dup, XM_011528193.4:c.*286_*288dup, XM_011528193.4:c.*285_*288dup, XM_011528193.4:c.*284_*288dup, XM_011528193.4:c.*283_*288dup, XM_011528193.4:c.*282_*288dup, XM_011528193.4:c.*281_*288dup, XM_011528193.3:c.*279_*288del, XM_011528193.3:c.*280_*288del, XM_011528193.3:c.*281_*288del, XM_011528193.3:c.*282_*288del, XM_011528193.3:c.*283_*288del, XM_011528193.3:c.*284_*288del, XM_011528193.3:c.*285_*288del, XM_011528193.3:c.*286_*288del, XM_011528193.3:c.*287_*288del, XM_011528193.3:c.*288del, XM_011528193.3:c.*288dup, XM_011528193.3:c.*287_*288dup, XM_011528193.3:c.*286_*288dup, XM_011528193.3:c.*285_*288dup, XM_011528193.3:c.*284_*288dup, XM_011528193.3:c.*283_*288dup, XM_011528193.3:c.*282_*288dup, XM_011528193.3:c.*281_*288dup, XM_011528193.2:c.*279_*288del, XM_011528193.2:c.*280_*288del, XM_011528193.2:c.*281_*288del, XM_011528193.2:c.*282_*288del, XM_011528193.2:c.*283_*288del, XM_011528193.2:c.*284_*288del, XM_011528193.2:c.*285_*288del, XM_011528193.2:c.*286_*288del, XM_011528193.2:c.*287_*288del, XM_011528193.2:c.*288del, XM_011528193.2:c.*288dup, XM_011528193.2:c.*287_*288dup, XM_011528193.2:c.*286_*288dup, XM_011528193.2:c.*285_*288dup, XM_011528193.2:c.*284_*288dup, XM_011528193.2:c.*283_*288dup, XM_011528193.2:c.*282_*288dup, XM_011528193.2:c.*281_*288dup, XM_011528193.1:c.*279_*288del, XM_011528193.1:c.*280_*288del, XM_011528193.1:c.*281_*288del, XM_011528193.1:c.*282_*288del, XM_011528193.1:c.*283_*288del, XM_011528193.1:c.*284_*288del, XM_011528193.1:c.*285_*288del, XM_011528193.1:c.*286_*288del, XM_011528193.1:c.*287_*288del, XM_011528193.1:c.*288del, XM_011528193.1:c.*288dup, XM_011528193.1:c.*287_*288dup, XM_011528193.1:c.*286_*288dup, XM_011528193.1:c.*285_*288dup, XM_011528193.1:c.*284_*288dup, XM_011528193.1:c.*283_*288dup, XM_011528193.1:c.*282_*288dup, XM_011528193.1:c.*281_*288dup, XM_011528194.4:c.*279_*288del, XM_011528194.4:c.*280_*288del, XM_011528194.4:c.*281_*288del, XM_011528194.4:c.*282_*288del, XM_011528194.4:c.*283_*288del, XM_011528194.4:c.*284_*288del, XM_011528194.4:c.*285_*288del, XM_011528194.4:c.*286_*288del, XM_011528194.4:c.*287_*288del, XM_011528194.4:c.*288del, XM_011528194.4:c.*288dup, XM_011528194.4:c.*287_*288dup, XM_011528194.4:c.*286_*288dup, XM_011528194.4:c.*285_*288dup, XM_011528194.4:c.*284_*288dup, XM_011528194.4:c.*283_*288dup, XM_011528194.4:c.*282_*288dup, XM_011528194.4:c.*281_*288dup, XM_011528194.3:c.*279_*288del, XM_011528194.3:c.*280_*288del, XM_011528194.3:c.*281_*288del, XM_011528194.3:c.*282_*288del, XM_011528194.3:c.*283_*288del, XM_011528194.3:c.*284_*288del, XM_011528194.3:c.*285_*288del, XM_011528194.3:c.*286_*288del, XM_011528194.3:c.*287_*288del, XM_011528194.3:c.*288del, XM_011528194.3:c.*288dup, XM_011528194.3:c.*287_*288dup, XM_011528194.3:c.*286_*288dup, XM_011528194.3:c.*285_*288dup, XM_011528194.3:c.*284_*288dup, XM_011528194.3:c.*283_*288dup, XM_011528194.3:c.*282_*288dup, XM_011528194.3:c.*281_*288dup, XM_011528194.2:c.*279_*288del, XM_011528194.2:c.*280_*288del, XM_011528194.2:c.*281_*288del, XM_011528194.2:c.*282_*288del, XM_011528194.2:c.*283_*288del, XM_011528194.2:c.*284_*288del, XM_011528194.2:c.*285_*288del, XM_011528194.2:c.*286_*288del, XM_011528194.2:c.*287_*288del, XM_011528194.2:c.*288del, XM_011528194.2:c.*288dup, XM_011528194.2:c.*287_*288dup, XM_011528194.2:c.*286_*288dup, XM_011528194.2:c.*285_*288dup, XM_011528194.2:c.*284_*288dup, XM_011528194.2:c.*283_*288dup, XM_011528194.2:c.*282_*288dup, XM_011528194.2:c.*281_*288dup, XM_011528194.1:c.*279_*288del, XM_011528194.1:c.*280_*288del, XM_011528194.1:c.*281_*288del, XM_011528194.1:c.*282_*288del, XM_011528194.1:c.*283_*288del, XM_011528194.1:c.*284_*288del, XM_011528194.1:c.*285_*288del, XM_011528194.1:c.*286_*288del, XM_011528194.1:c.*287_*288del, XM_011528194.1:c.*288del, XM_011528194.1:c.*288dup, XM_011528194.1:c.*287_*288dup, XM_011528194.1:c.*286_*288dup, XM_011528194.1:c.*285_*288dup, XM_011528194.1:c.*284_*288dup, XM_011528194.1:c.*283_*288dup, XM_011528194.1:c.*282_*288dup, XM_011528194.1:c.*281_*288dup, XM_011528192.3:c.*279_*288del, XM_011528192.3:c.*280_*288del, XM_011528192.3:c.*281_*288del, XM_011528192.3:c.*282_*288del, XM_011528192.3:c.*283_*288del, XM_011528192.3:c.*284_*288del, XM_011528192.3:c.*285_*288del, XM_011528192.3:c.*286_*288del, XM_011528192.3:c.*287_*288del, XM_011528192.3:c.*288del, XM_011528192.3:c.*288dup, XM_011528192.3:c.*287_*288dup, XM_011528192.3:c.*286_*288dup, XM_011528192.3:c.*285_*288dup, XM_011528192.3:c.*284_*288dup, XM_011528192.3:c.*283_*288dup, XM_011528192.3:c.*282_*288dup, XM_011528192.3:c.*281_*288dup, XM_011528192.2:c.*279_*288del, XM_011528192.2:c.*280_*288del, XM_011528192.2:c.*281_*288del, XM_011528192.2:c.*282_*288del, XM_011528192.2:c.*283_*288del, XM_011528192.2:c.*284_*288del, XM_011528192.2:c.*285_*288del, XM_011528192.2:c.*286_*288del, XM_011528192.2:c.*287_*288del, XM_011528192.2:c.*288del, XM_011528192.2:c.*288dup, XM_011528192.2:c.*287_*288dup, XM_011528192.2:c.*286_*288dup, XM_011528192.2:c.*285_*288dup, XM_011528192.2:c.*284_*288dup, XM_011528192.2:c.*283_*288dup, XM_011528192.2:c.*282_*288dup, XM_011528192.2:c.*281_*288dup, XM_011528192.1:c.*279_*288del, XM_011528192.1:c.*280_*288del, XM_011528192.1:c.*281_*288del, XM_011528192.1:c.*282_*288del, XM_011528192.1:c.*283_*288del, XM_011528192.1:c.*284_*288del, XM_011528192.1:c.*285_*288del, XM_011528192.1:c.*286_*288del, XM_011528192.1:c.*287_*288del, XM_011528192.1:c.*288del, XM_011528192.1:c.*288dup, XM_011528192.1:c.*287_*288dup, XM_011528192.1:c.*286_*288dup, XM_011528192.1:c.*285_*288dup, XM_011528192.1:c.*284_*288dup, XM_011528192.1:c.*283_*288dup, XM_011528192.1:c.*282_*288dup, XM_011528192.1:c.*281_*288dup, XM_017027158.2:c.*279_*288del, XM_017027158.2:c.*280_*288del, XM_017027158.2:c.*281_*288del, XM_017027158.2:c.*282_*288del, XM_017027158.2:c.*283_*288del, XM_017027158.2:c.*284_*288del, XM_017027158.2:c.*285_*288del, XM_017027158.2:c.*286_*288del, XM_017027158.2:c.*287_*288del, XM_017027158.2:c.*288del, XM_017027158.2:c.*288dup, XM_017027158.2:c.*287_*288dup, XM_017027158.2:c.*286_*288dup, XM_017027158.2:c.*285_*288dup, XM_017027158.2:c.*284_*288dup, XM_017027158.2:c.*283_*288dup, XM_017027158.2:c.*282_*288dup, XM_017027158.2:c.*281_*288dup, XM_017027158.1:c.*279_*288del, XM_017027158.1:c.*280_*288del, XM_017027158.1:c.*281_*288del, XM_017027158.1:c.*282_*288del, XM_017027158.1:c.*283_*288del, XM_017027158.1:c.*284_*288del, XM_017027158.1:c.*285_*288del, XM_017027158.1:c.*286_*288del, XM_017027158.1:c.*287_*288del, XM_017027158.1:c.*288del, XM_017027158.1:c.*288dup, XM_017027158.1:c.*287_*288dup, XM_017027158.1:c.*286_*288dup, XM_017027158.1:c.*285_*288dup, XM_017027158.1:c.*284_*288dup, XM_017027158.1:c.*283_*288dup, XM_017027158.1:c.*282_*288dup, XM_017027158.1:c.*281_*288dup

Select item 14913415715.

rs1491341571 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 19:17894144 (GRCh38)
19:18004954 (GRCh37)
Canonical SPDI:: NC_000019.10:17894144::C
Gene:: SLC5A5 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00337/40 (ALFA)
C=0.00004/1 (TOMMO)
HGVS:: NC_000019.10:g.17894144_17894145insC, NC_000019.9:g.18004953_18004954insC, NG_012930.1:g.27172_27173insC, NM_000453.3:c.*267_*268insC, NM_000453.2:c.*267_*268insC, XM_011528193.4:c.*267_*268insC, XM_011528193.3:c.*267_*268insC, XM_011528193.2:c.*267_*268insC, XM_011528193.1:c.*267_*268insC, XM_011528194.4:c.*267_*268insC, XM_011528194.3:c.*267_*268insC, XM_011528194.2:c.*267_*268insC, XM_011528194.1:c.*267_*268insC, XM_011528192.3:c.*267_*268insC, XM_011528192.2:c.*267_*268insC, XM_011528192.1:c.*267_*268insC, XM_017027158.2:c.*267_*268insC, XM_017027158.1:c.*267_*268insC

Select item 14912483086.

rs1491248308 [Homo sapiens]

Variant type:: SNV:
Alleles:: GG>-
Chromosome:: no mapping
Canonical SPDI:

Select item 14911995317.

rs1491199531 has merged into rs796800481 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 19:17895969 (GRCh38)
19:18006778 (GRCh37)
Canonical SPDI:: NC_000019.10:17895955:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGT,NC_000019.10:17895955:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000019.10:17895955:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000019.10:17895955:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000019.10:17895955:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000019.10:17895955:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:17895955:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:17895955:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:17895955:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:17895955:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:17895955:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:17895955:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:17895955:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:17895955:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:17895955:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:17895955:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:17895955:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:17895955:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:17895955:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:17895955:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGT=0./0 (ALFA)
HGVS:: NC_000019.10:g.17895957GT[6], NC_000019.10:g.17895957GT[7], NC_000019.10:g.17895957GT[8], NC_000019.10:g.17895957GT[9], NC_000019.10:g.17895957GT[10], NC_000019.10:g.17895957GT[11], NC_000019.10:g.17895957GT[12], NC_000019.10:g.17895957GT[14], NC_000019.10:g.17895957GT[15], NC_000019.10:g.17895957GT[16], NC_000019.10:g.17895957GT[17], NC_000019.10:g.17895957GT[18], NC_000019.10:g.17895957GT[19], NC_000019.10:g.17895957GT[20], NC_000019.10:g.17895957GT[21], NC_000019.10:g.17895957GT[22], NC_000019.10:g.17895957GT[23], NC_000019.10:g.17895957GT[24], NC_000019.10:g.17895957GT[25], NC_000019.10:g.17895957GT[26], NC_000019.9:g.18006766GT[6], NC_000019.9:g.18006766GT[7], NC_000019.9:g.18006766GT[8], NC_000019.9:g.18006766GT[9], NC_000019.9:g.18006766GT[10], NC_000019.9:g.18006766GT[11], NC_000019.9:g.18006766GT[12], NC_000019.9:g.18006766GT[14], NC_000019.9:g.18006766GT[15], NC_000019.9:g.18006766GT[16], NC_000019.9:g.18006766GT[17], NC_000019.9:g.18006766GT[18], NC_000019.9:g.18006766GT[19], NC_000019.9:g.18006766GT[20], NC_000019.9:g.18006766GT[21], NC_000019.9:g.18006766GT[22], NC_000019.9:g.18006766GT[23], NC_000019.9:g.18006766GT[24], NC_000019.9:g.18006766GT[25], NC_000019.9:g.18006766GT[26], NG_012930.1:g.28985GT[6], NG_012930.1:g.28985GT[7], NG_012930.1:g.28985GT[8], NG_012930.1:g.28985GT[9], NG_012930.1:g.28985GT[10], NG_012930.1:g.28985GT[11], NG_012930.1:g.28985GT[12], NG_012930.1:g.28985GT[14], NG_012930.1:g.28985GT[15], NG_012930.1:g.28985GT[16], NG_012930.1:g.28985GT[17], NG_012930.1:g.28985GT[18], NG_012930.1:g.28985GT[19], NG_012930.1:g.28985GT[20], NG_012930.1:g.28985GT[21], NG_012930.1:g.28985GT[22], NG_012930.1:g.28985GT[23], NG_012930.1:g.28985GT[24], NG_012930.1:g.28985GT[25], NG_012930.1:g.28985GT[26]

Select item 14911520498.

rs1491152049 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->AG
Chromosome:: no mapping
Canonical SPDI:

Select item 14911497629.

rs1491149762 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 19:17867600 (GRCh38)
19:17978409 (GRCh37)
Canonical SPDI:: NC_000019.10:17867597:CACA:CA
Validated:: by frequency,by alfa
MAF:: CACA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.17867598CA[1], NC_000019.9:g.17978407CA[1], NG_012930.1:g.626CA[1]

Select item 149109021510.

rs1491090215 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 19:17888620 (GRCh38)
19:17999429 (GRCh37)
Canonical SPDI:: NC_000019.10:17888619:CA:
Gene:: SLC5A5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.00004/1 (TOMMO)
-=0.02187/1698 (GnomAD)
HGVS:: NC_000019.10:g.17888620_17888621del, NC_000019.9:g.17999429_17999430del, NG_012930.1:g.21648_21649del

Select item 149101666311.

rs1491016663 has merged into rs55961004 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTTT [Show Flanks]
Chromosome:: 19:17880229 (GRCh38)
19:17991038 (GRCh37)
Canonical SPDI:: NC_000019.10:17880217:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:17880217:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:17880217:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:17880217:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:17880217:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:17880217:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:17880217:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:17880217:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT
Gene:: SLC5A5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTT=0.00027/3 (ALFA)
-=0.19073/852 (1000Genomes)
T=0.3/12 (GENOME_DK)
HGVS:: NC_000019.10:g.17880229_17880232del, NC_000019.10:g.17880230_17880232del, NC_000019.10:g.17880231_17880232del, NC_000019.10:g.17880232del, NC_000019.10:g.17880232dup, NC_000019.10:g.17880231_17880232dup, NC_000019.10:g.17880230_17880232dup, NC_000019.10:g.17880227_17880232dup, NC_000019.9:g.17991038_17991041del, NC_000019.9:g.17991039_17991041del, NC_000019.9:g.17991040_17991041del, NC_000019.9:g.17991041del, NC_000019.9:g.17991041dup, NC_000019.9:g.17991040_17991041dup, NC_000019.9:g.17991039_17991041dup, NC_000019.9:g.17991036_17991041dup, NG_012930.1:g.13257_13260del, NG_012930.1:g.13258_13260del, NG_012930.1:g.13259_13260del, NG_012930.1:g.13260del, NG_012930.1:g.13260dup, NG_012930.1:g.13259_13260dup, NG_012930.1:g.13258_13260dup, NG_012930.1:g.13255_13260dup

Select item 149088743612.

rs1490887436 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:17883538 (GRCh38)
19:17994347 (GRCh37)
Canonical SPDI:: NC_000019.10:17883537:T:C
Gene:: SLC5A5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.17883538T>C, NC_000019.9:g.17994347T>C, NG_012930.1:g.16566T>C

Select item 149074417713.

rs1490744177 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:17891025 (GRCh38)
19:18001834 (GRCh37)
Canonical SPDI:: NC_000019.10:17891024:G:A,NC_000019.10:17891024:G:C
Gene:: SLC5A5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.17891025G>A, NC_000019.10:g.17891025G>C, NC_000019.9:g.18001834G>A, NC_000019.9:g.18001834G>C, NG_012930.1:g.24053G>A, NG_012930.1:g.24053G>C

Select item 149060094714.

rs1490600947 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:17870058 (GRCh38)
19:17980867 (GRCh37)
Canonical SPDI:: NC_000019.10:17870057:G:A,NC_000019.10:17870057:G:C
Gene:: SLC5A5 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.17870058G>A, NC_000019.10:g.17870058G>C, NC_000019.9:g.17980867G>A, NC_000019.9:g.17980867G>C, NG_012930.1:g.3086G>A, NG_012930.1:g.3086G>C

Select item 149048838115.

rs1490488381 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 19:17896853 (GRCh38)
19:18007662 (GRCh37)
Canonical SPDI:: NC_000019.10:17896852:A:
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.17896853del, NC_000019.9:g.18007662del, NG_012930.1:g.29881del

Select item 149040839116.

rs1490408391 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:17870777 (GRCh38)
19:17981586 (GRCh37)
Canonical SPDI:: NC_000019.10:17870776:G:A
Gene:: SLC5A5 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.00003/8 (TOPMED)
HGVS:: NC_000019.10:g.17870777G>A, NC_000019.9:g.17981586G>A, NG_012930.1:g.3805G>A

Select item 149031262417.

rs1490312624 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:17869715 (GRCh38)
19:17980524 (GRCh37)
Canonical SPDI:: NC_000019.10:17869714:C:T
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.17869715C>T, NC_000019.9:g.17980524C>T, NG_012930.1:g.2743C>T

Select item 149018165618.

rs1490181656 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:17886272 (GRCh38)
19:17997081 (GRCh37)
Canonical SPDI:: NC_000019.10:17886271:A:G
Gene:: SLC5A5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
G=0.000029/4 (GnomAD)
HGVS:: NC_000019.10:g.17886272A>G, NC_000019.9:g.17997081A>G, NG_012930.1:g.19300A>G

Select item 149007757219.

rs1490077572 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:17882872 (GRCh38)
19:17993681 (GRCh37)
Canonical SPDI:: NC_000019.10:17882871:A:G
Gene:: SLC5A5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000224/1 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.17882872A>G, NC_000019.9:g.17993681A>G, NG_012930.1:g.15900A>G

Select item 149006702820.

rs1490067028 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:17871727 (GRCh38)
19:17982536 (GRCh37)
Canonical SPDI:: NC_000019.10:17871726:G:A
Gene:: SLC5A5 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.17871727G>A, NC_000019.9:g.17982536G>A, NG_012930.1:g.4755G>A

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