SNP Links for Gene (Select 23385) - SNP

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Select item 14913064871.

rs1491306487 has merged into rs11414346 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,AAAA,AAAAAA,AAAAAAA,AAAAAAAA [Show Flanks]
Chromosome:: 1:160350718 (GRCh38)
1:160320508 (GRCh37)
Canonical SPDI:: NC_000001.11:160350712:AAAAAAAAAA:AAAAA,NC_000001.11:160350712:AAAAAAAAAA:AAAAAAAAA,NC_000001.11:160350712:AAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:160350712:AAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:160350712:AAAAAAAAAA:AAAAAAAAAAAAA
Gene:: NCSTN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
-=0.01161/52 (Estonian)
-=0.01703/17 (GoNL)
A=0.09065/454 (1000Genomes)
-=0.18396/39 (Vietnamese)
HGVS:: NC_000001.11:g.160350718_160350722del, NC_000001.11:g.160350722del, NC_000001.11:g.160350722dup, NC_000001.11:g.160350721_160350722dup, NC_000001.11:g.160350720_160350722dup, NC_000001.10:g.160320508_160320512del, NC_000001.10:g.160320512del, NC_000001.10:g.160320512dup, NC_000001.10:g.160320511_160320512dup, NC_000001.10:g.160320510_160320512dup, NG_027935.1:g.12446_12450del, NG_027935.1:g.12450del, NG_027935.1:g.12450dup, NG_027935.1:g.12449_12450dup, NG_027935.1:g.12448_12450dup

Select item 14912003482.

rs1491200348 has merged into rs59615218 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:160359182 (GRCh38)
1:160328972 (GRCh37)
Canonical SPDI:: NC_000001.11:160359170:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:160359170:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:160359170:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:160359170:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:160359170:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:160359170:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:160359170:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:160359170:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:160359170:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:160359170:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:160359170:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160359170:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160359170:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160359170:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160359170:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160359170:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160359170:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160359170:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160359170:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160359170:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160359170:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160359170:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160359170:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160359170:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160359170:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160359170:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160359170:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160359170:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160359170:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160359170:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160359170:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160359170:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160359170:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160359170:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160359170:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160359170:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160359170:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160359170:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160359170:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160359170:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160359170:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160359170:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160359170:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160359170:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160359170:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160359170:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160359170:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160359170:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160359170:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160359170:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160359170:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160359170:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160359170:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160359170:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160359170:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160359170:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160359170:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160359170:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160359170:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: NCSTN (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
TTTTTTTTTTTTTTT=0./0 (GENOME_DK)
HGVS:: NC_000001.11:g.160359182_160359203del, NC_000001.11:g.160359183_160359203del, NC_000001.11:g.160359184_160359203del, NC_000001.11:g.160359185_160359203del, NC_000001.11:g.160359186_160359203del, NC_000001.11:g.160359187_160359203del, NC_000001.11:g.160359188_160359203del, NC_000001.11:g.160359189_160359203del, NC_000001.11:g.160359190_160359203del, NC_000001.11:g.160359191_160359203del, NC_000001.11:g.160359192_160359203del, NC_000001.11:g.160359193_160359203del, NC_000001.11:g.160359194_160359203del, NC_000001.11:g.160359195_160359203del, NC_000001.11:g.160359196_160359203del, NC_000001.11:g.160359197_160359203del, NC_000001.11:g.160359198_160359203del, NC_000001.11:g.160359199_160359203del, NC_000001.11:g.160359200_160359203del, NC_000001.11:g.160359201_160359203del, NC_000001.11:g.160359202_160359203del, NC_000001.11:g.160359203del, NC_000001.11:g.160359203dup, NC_000001.11:g.160359202_160359203dup, NC_000001.11:g.160359201_160359203dup, NC_000001.11:g.160359200_160359203dup, NC_000001.11:g.160359199_160359203dup, NC_000001.11:g.160359198_160359203dup, NC_000001.11:g.160359197_160359203dup, NC_000001.11:g.160359196_160359203dup, NC_000001.11:g.160359195_160359203dup, NC_000001.11:g.160359193_160359203dup, NC_000001.11:g.160359192_160359203dup, NC_000001.11:g.160359191_160359203dup, NC_000001.11:g.160359190_160359203dup, NC_000001.11:g.160359189_160359203dup, NC_000001.11:g.160359188_160359203dup, NC_000001.11:g.160359186_160359203dup, NC_000001.11:g.160359185_160359203dup, NC_000001.11:g.160359184_160359203dup, NC_000001.11:g.160359183_160359203dup, NC_000001.11:g.160359182_160359203dup, NC_000001.11:g.160359181_160359203dup, NC_000001.11:g.160359180_160359203dup, NC_000001.11:g.160359179_160359203dup, NC_000001.11:g.160359178_160359203dup, NC_000001.11:g.160359177_160359203dup, NC_000001.11:g.160359176_160359203dup, NC_000001.11:g.160359175_160359203dup, NC_000001.11:g.160359174_160359203dup, NC_000001.11:g.160359173_160359203dup, NC_000001.11:g.160359172_160359203dup, NC_000001.11:g.160359171_160359203dup, NC_000001.11:g.160359203_160359204insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.160359203_160359204insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.160359203_160359204insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.160359203_160359204insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.160359203_160359204insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.160359203_160359204insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.160328972_160328993del, NC_000001.10:g.160328973_160328993del, NC_000001.10:g.160328974_160328993del, NC_000001.10:g.160328975_160328993del, NC_000001.10:g.160328976_160328993del, NC_000001.10:g.160328977_160328993del, NC_000001.10:g.160328978_160328993del, NC_000001.10:g.160328979_160328993del, NC_000001.10:g.160328980_160328993del, NC_000001.10:g.160328981_160328993del, NC_000001.10:g.160328982_160328993del, NC_000001.10:g.160328983_160328993del, NC_000001.10:g.160328984_160328993del, NC_000001.10:g.160328985_160328993del, NC_000001.10:g.160328986_160328993del, NC_000001.10:g.160328987_160328993del, NC_000001.10:g.160328988_160328993del, NC_000001.10:g.160328989_160328993del, NC_000001.10:g.160328990_160328993del, NC_000001.10:g.160328991_160328993del, NC_000001.10:g.160328992_160328993del, NC_000001.10:g.160328993del, NC_000001.10:g.160328993dup, NC_000001.10:g.160328992_160328993dup, NC_000001.10:g.160328991_160328993dup, NC_000001.10:g.160328990_160328993dup, NC_000001.10:g.160328989_160328993dup, NC_000001.10:g.160328988_160328993dup, NC_000001.10:g.160328987_160328993dup, NC_000001.10:g.160328986_160328993dup, NC_000001.10:g.160328985_160328993dup, NC_000001.10:g.160328983_160328993dup, NC_000001.10:g.160328982_160328993dup, NC_000001.10:g.160328981_160328993dup, NC_000001.10:g.160328980_160328993dup, NC_000001.10:g.160328979_160328993dup, NC_000001.10:g.160328978_160328993dup, NC_000001.10:g.160328976_160328993dup, NC_000001.10:g.160328975_160328993dup, NC_000001.10:g.160328974_160328993dup, NC_000001.10:g.160328973_160328993dup, NC_000001.10:g.160328972_160328993dup, NC_000001.10:g.160328971_160328993dup, NC_000001.10:g.160328970_160328993dup, NC_000001.10:g.160328969_160328993dup, NC_000001.10:g.160328968_160328993dup, NC_000001.10:g.160328967_160328993dup, NC_000001.10:g.160328966_160328993dup, NC_000001.10:g.160328965_160328993dup, NC_000001.10:g.160328964_160328993dup, NC_000001.10:g.160328963_160328993dup, NC_000001.10:g.160328962_160328993dup, NC_000001.10:g.160328961_160328993dup, NC_000001.10:g.160328993_160328994insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.160328993_160328994insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.160328993_160328994insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.160328993_160328994insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.160328993_160328994insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.160328993_160328994insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_027935.1:g.20910_20931del, NG_027935.1:g.20911_20931del, NG_027935.1:g.20912_20931del, NG_027935.1:g.20913_20931del, NG_027935.1:g.20914_20931del, NG_027935.1:g.20915_20931del, NG_027935.1:g.20916_20931del, NG_027935.1:g.20917_20931del, NG_027935.1:g.20918_20931del, NG_027935.1:g.20919_20931del, NG_027935.1:g.20920_20931del, NG_027935.1:g.20921_20931del, NG_027935.1:g.20922_20931del, NG_027935.1:g.20923_20931del, NG_027935.1:g.20924_20931del, NG_027935.1:g.20925_20931del, NG_027935.1:g.20926_20931del, NG_027935.1:g.20927_20931del, NG_027935.1:g.20928_20931del, NG_027935.1:g.20929_20931del, NG_027935.1:g.20930_20931del, NG_027935.1:g.20931del, NG_027935.1:g.20931dup, NG_027935.1:g.20930_20931dup, NG_027935.1:g.20929_20931dup, NG_027935.1:g.20928_20931dup, NG_027935.1:g.20927_20931dup, NG_027935.1:g.20926_20931dup, NG_027935.1:g.20925_20931dup, NG_027935.1:g.20924_20931dup, NG_027935.1:g.20923_20931dup, NG_027935.1:g.20921_20931dup, NG_027935.1:g.20920_20931dup, NG_027935.1:g.20919_20931dup, NG_027935.1:g.20918_20931dup, NG_027935.1:g.20917_20931dup, NG_027935.1:g.20916_20931dup, NG_027935.1:g.20914_20931dup, NG_027935.1:g.20913_20931dup, NG_027935.1:g.20912_20931dup, NG_027935.1:g.20911_20931dup, NG_027935.1:g.20910_20931dup, NG_027935.1:g.20909_20931dup, NG_027935.1:g.20908_20931dup, NG_027935.1:g.20907_20931dup, NG_027935.1:g.20906_20931dup, NG_027935.1:g.20905_20931dup, NG_027935.1:g.20904_20931dup, NG_027935.1:g.20903_20931dup, NG_027935.1:g.20902_20931dup, NG_027935.1:g.20901_20931dup, NG_027935.1:g.20900_20931dup, NG_027935.1:g.20899_20931dup, NG_027935.1:g.20931_20932insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_027935.1:g.20931_20932insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_027935.1:g.20931_20932insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_027935.1:g.20931_20932insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_027935.1:g.20931_20932insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_027935.1:g.20931_20932insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14911959273.

rs1491195927 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 1:160359170 (GRCh38)
1:160328960 (GRCh37)
Canonical SPDI:: NC_000001.11:160359169:AT:
Gene:: NCSTN (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00034/4 (ALFA)
HGVS:: NC_000001.11:g.160359170_160359171del, NC_000001.10:g.160328960_160328961del, NG_027935.1:g.20898_20899del

Select item 14911062354.

rs1491106235 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTT [Show Flanks]
Chromosome:: 1:160343955 (GRCh38)
1:160313746 (GRCh37)
Canonical SPDI:: NC_000001.11:160343955:TT:TTGTT
Gene:: COPA (Varview), NCSTN (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: TTGTT=0.00008/1 (ALFA)
TTG=0.00039/7 (GnomAD)
HGVS:: NC_000001.11:g.160343957_160343958insGTT, NC_000001.10:g.160313747_160313748insGTT, NG_050927.1:g.4609_4610insCAA, NG_027935.1:g.5685_5686insGTT

Select item 14907814415.

rs1490781441 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:160343753 (GRCh38)
1:160313543 (GRCh37)
Canonical SPDI:: NC_000001.11:160343752:C:G
Gene:: COPA (Varview), NCSTN (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.160343753C>G, NC_000001.10:g.160313543C>G, NG_050927.1:g.4812G>C, NG_027935.1:g.5481C>G

Select item 14907082766.

rs1490708276 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:160356564 (GRCh38)
1:160326354 (GRCh37)
Canonical SPDI:: NC_000001.11:160356563:C:T
Gene:: NCSTN (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.160356564C>T, NC_000001.10:g.160326354C>T, NG_027935.1:g.18292C>T

Select item 14906060427.

rs1490606042 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:160358819 (GRCh38)
1:160328609 (GRCh37)
Canonical SPDI:: NC_000001.11:160358818:C:T
Gene:: NCSTN (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: T=0.0005/1 (Korea1K)
HGVS:: NC_000001.11:g.160358819C>T, NC_000001.10:g.160328609C>T, NG_027935.1:g.20547C>T, NM_015331.3:c.*548C>T, NM_015331.2:c.*548C>T, NM_001290184.2:c.*548C>T, NM_001290184.1:c.*548C>T, NM_001349729.2:c.*548C>T, NM_001349729.1:c.*548C>T, NM_001290186.2:c.*548C>T, NM_001290186.1:c.*548C>T

Select item 14905467348.

rs1490546734 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:160357095 (GRCh38)
1:160326885 (GRCh37)
Canonical SPDI:: NC_000001.11:160357094:C:T
Gene:: NCSTN (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.160357095C>T, NC_000001.10:g.160326885C>T, NG_027935.1:g.18823C>T, NM_015331.3:c.1849C>T, NM_015331.2:c.1849C>T, NM_001290184.2:c.1789C>T, NM_001290184.1:c.1789C>T, NM_001290186.2:c.1435C>T, NM_001290186.1:c.1435C>T, NP_056146.1:p.Leu617Phe, NP_001277113.1:p.Leu597Phe, NP_001277115.1:p.Leu479Phe

Select item 14902526709.

rs1490252670 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:160357661 (GRCh38)
1:160327451 (GRCh37)
Canonical SPDI:: NC_000001.11:160357660:C:T
Gene:: NCSTN (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000106/2 (TOMMO)
T=0.000342/1 (KOREAN)
T=0.000546/1 (Korea1K)
HGVS:: NC_000001.11:g.160357661C>T, NC_000001.10:g.160327451C>T, NG_027935.1:g.19389C>T

Select item 149012998710.

rs1490129987 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:160341663 (GRCh38)
1:160311453 (GRCh37)
Canonical SPDI:: NC_000001.11:160341662:T:C
Gene:: COPA (Varview), NCSTN (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.160341663T>C, NC_000001.10:g.160311453T>C, NG_050927.1:g.6902A>G, NG_027935.1:g.3391T>C

Select item 148987338511.

rs1489873385 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:160357333 (GRCh38)
1:160327123 (GRCh37)
Canonical SPDI:: NC_000001.11:160357332:A:G
Gene:: NCSTN (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_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_000001.11:g.160357333A>G, NC_000001.10:g.160327123A>G, NG_027935.1:g.19061A>G

Select item 148948606912.

rs1489486069 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:160358945 (GRCh38)
1:160328735 (GRCh37)
Canonical SPDI:: NC_000001.11:160358944:C:G
Gene:: NCSTN (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_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_000001.11:g.160358945C>G, NC_000001.10:g.160328735C>G, NG_027935.1:g.20673C>G, NM_015331.3:c.*674C>G, NM_015331.2:c.*674C>G, NM_001290184.2:c.*674C>G, NM_001290184.1:c.*674C>G, NM_001349729.2:c.*674C>G, NM_001349729.1:c.*674C>G, NM_001290186.2:c.*674C>G, NM_001290186.1:c.*674C>G

Select item 148945967813.

rs1489459678 has merged into rs59615218 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:160359182 (GRCh38)
1:160328972 (GRCh37)
Canonical SPDI:: NC_000001.11:160359170:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:160359170:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:160359170:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:160359170:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:160359170:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:160359170:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:160359170:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:160359170:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:160359170:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:160359170:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:160359170:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160359170:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160359170:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160359170:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160359170:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160359170:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160359170:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160359170:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160359170:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160359170:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160359170:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160359170:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160359170:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160359170:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160359170:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160359170:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160359170:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160359170:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160359170:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160359170:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160359170:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160359170:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160359170:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160359170:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160359170:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160359170:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160359170:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160359170:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160359170:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160359170:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160359170:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160359170:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160359170:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160359170:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160359170:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160359170:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160359170:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160359170:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160359170:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160359170:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160359170:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160359170:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160359170:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160359170:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160359170:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160359170:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160359170:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160359170:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:160359170:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: NCSTN (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
TTTTTTTTTTTTTTT=0./0 (GENOME_DK)
HGVS:: NC_000001.11:g.160359182_160359203del, NC_000001.11:g.160359183_160359203del, NC_000001.11:g.160359184_160359203del, NC_000001.11:g.160359185_160359203del, NC_000001.11:g.160359186_160359203del, NC_000001.11:g.160359187_160359203del, NC_000001.11:g.160359188_160359203del, NC_000001.11:g.160359189_160359203del, NC_000001.11:g.160359190_160359203del, NC_000001.11:g.160359191_160359203del, NC_000001.11:g.160359192_160359203del, NC_000001.11:g.160359193_160359203del, NC_000001.11:g.160359194_160359203del, NC_000001.11:g.160359195_160359203del, NC_000001.11:g.160359196_160359203del, NC_000001.11:g.160359197_160359203del, NC_000001.11:g.160359198_160359203del, NC_000001.11:g.160359199_160359203del, NC_000001.11:g.160359200_160359203del, NC_000001.11:g.160359201_160359203del, NC_000001.11:g.160359202_160359203del, NC_000001.11:g.160359203del, NC_000001.11:g.160359203dup, NC_000001.11:g.160359202_160359203dup, NC_000001.11:g.160359201_160359203dup, NC_000001.11:g.160359200_160359203dup, NC_000001.11:g.160359199_160359203dup, NC_000001.11:g.160359198_160359203dup, NC_000001.11:g.160359197_160359203dup, NC_000001.11:g.160359196_160359203dup, NC_000001.11:g.160359195_160359203dup, NC_000001.11:g.160359193_160359203dup, NC_000001.11:g.160359192_160359203dup, NC_000001.11:g.160359191_160359203dup, NC_000001.11:g.160359190_160359203dup, NC_000001.11:g.160359189_160359203dup, NC_000001.11:g.160359188_160359203dup, NC_000001.11:g.160359186_160359203dup, NC_000001.11:g.160359185_160359203dup, NC_000001.11:g.160359184_160359203dup, NC_000001.11:g.160359183_160359203dup, NC_000001.11:g.160359182_160359203dup, NC_000001.11:g.160359181_160359203dup, NC_000001.11:g.160359180_160359203dup, NC_000001.11:g.160359179_160359203dup, NC_000001.11:g.160359178_160359203dup, NC_000001.11:g.160359177_160359203dup, NC_000001.11:g.160359176_160359203dup, NC_000001.11:g.160359175_160359203dup, NC_000001.11:g.160359174_160359203dup, NC_000001.11:g.160359173_160359203dup, NC_000001.11:g.160359172_160359203dup, NC_000001.11:g.160359171_160359203dup, NC_000001.11:g.160359203_160359204insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.160359203_160359204insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.160359203_160359204insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.160359203_160359204insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.160359203_160359204insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.160359203_160359204insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.160328972_160328993del, NC_000001.10:g.160328973_160328993del, NC_000001.10:g.160328974_160328993del, NC_000001.10:g.160328975_160328993del, NC_000001.10:g.160328976_160328993del, NC_000001.10:g.160328977_160328993del, NC_000001.10:g.160328978_160328993del, NC_000001.10:g.160328979_160328993del, NC_000001.10:g.160328980_160328993del, NC_000001.10:g.160328981_160328993del, NC_000001.10:g.160328982_160328993del, NC_000001.10:g.160328983_160328993del, NC_000001.10:g.160328984_160328993del, NC_000001.10:g.160328985_160328993del, NC_000001.10:g.160328986_160328993del, NC_000001.10:g.160328987_160328993del, NC_000001.10:g.160328988_160328993del, NC_000001.10:g.160328989_160328993del, NC_000001.10:g.160328990_160328993del, NC_000001.10:g.160328991_160328993del, NC_000001.10:g.160328992_160328993del, NC_000001.10:g.160328993del, NC_000001.10:g.160328993dup, NC_000001.10:g.160328992_160328993dup, NC_000001.10:g.160328991_160328993dup, NC_000001.10:g.160328990_160328993dup, NC_000001.10:g.160328989_160328993dup, NC_000001.10:g.160328988_160328993dup, NC_000001.10:g.160328987_160328993dup, NC_000001.10:g.160328986_160328993dup, NC_000001.10:g.160328985_160328993dup, NC_000001.10:g.160328983_160328993dup, NC_000001.10:g.160328982_160328993dup, NC_000001.10:g.160328981_160328993dup, NC_000001.10:g.160328980_160328993dup, NC_000001.10:g.160328979_160328993dup, NC_000001.10:g.160328978_160328993dup, NC_000001.10:g.160328976_160328993dup, NC_000001.10:g.160328975_160328993dup, NC_000001.10:g.160328974_160328993dup, NC_000001.10:g.160328973_160328993dup, NC_000001.10:g.160328972_160328993dup, NC_000001.10:g.160328971_160328993dup, NC_000001.10:g.160328970_160328993dup, NC_000001.10:g.160328969_160328993dup, NC_000001.10:g.160328968_160328993dup, NC_000001.10:g.160328967_160328993dup, NC_000001.10:g.160328966_160328993dup, NC_000001.10:g.160328965_160328993dup, NC_000001.10:g.160328964_160328993dup, NC_000001.10:g.160328963_160328993dup, NC_000001.10:g.160328962_160328993dup, NC_000001.10:g.160328961_160328993dup, NC_000001.10:g.160328993_160328994insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.160328993_160328994insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.160328993_160328994insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.160328993_160328994insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.160328993_160328994insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.160328993_160328994insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_027935.1:g.20910_20931del, NG_027935.1:g.20911_20931del, NG_027935.1:g.20912_20931del, NG_027935.1:g.20913_20931del, NG_027935.1:g.20914_20931del, NG_027935.1:g.20915_20931del, NG_027935.1:g.20916_20931del, NG_027935.1:g.20917_20931del, NG_027935.1:g.20918_20931del, NG_027935.1:g.20919_20931del, NG_027935.1:g.20920_20931del, NG_027935.1:g.20921_20931del, NG_027935.1:g.20922_20931del, NG_027935.1:g.20923_20931del, NG_027935.1:g.20924_20931del, NG_027935.1:g.20925_20931del, NG_027935.1:g.20926_20931del, NG_027935.1:g.20927_20931del, NG_027935.1:g.20928_20931del, NG_027935.1:g.20929_20931del, NG_027935.1:g.20930_20931del, NG_027935.1:g.20931del, NG_027935.1:g.20931dup, NG_027935.1:g.20930_20931dup, NG_027935.1:g.20929_20931dup, NG_027935.1:g.20928_20931dup, NG_027935.1:g.20927_20931dup, NG_027935.1:g.20926_20931dup, NG_027935.1:g.20925_20931dup, NG_027935.1:g.20924_20931dup, NG_027935.1:g.20923_20931dup, NG_027935.1:g.20921_20931dup, NG_027935.1:g.20920_20931dup, NG_027935.1:g.20919_20931dup, NG_027935.1:g.20918_20931dup, NG_027935.1:g.20917_20931dup, NG_027935.1:g.20916_20931dup, NG_027935.1:g.20914_20931dup, NG_027935.1:g.20913_20931dup, NG_027935.1:g.20912_20931dup, NG_027935.1:g.20911_20931dup, NG_027935.1:g.20910_20931dup, NG_027935.1:g.20909_20931dup, NG_027935.1:g.20908_20931dup, NG_027935.1:g.20907_20931dup, NG_027935.1:g.20906_20931dup, NG_027935.1:g.20905_20931dup, NG_027935.1:g.20904_20931dup, NG_027935.1:g.20903_20931dup, NG_027935.1:g.20902_20931dup, NG_027935.1:g.20901_20931dup, NG_027935.1:g.20900_20931dup, NG_027935.1:g.20899_20931dup, NG_027935.1:g.20931_20932insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_027935.1:g.20931_20932insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_027935.1:g.20931_20932insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_027935.1:g.20931_20932insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_027935.1:g.20931_20932insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_027935.1:g.20931_20932insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 148911849614.

rs1489118496 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:160348366 (GRCh38)
1:160318156 (GRCh37)
Canonical SPDI:: NC_000001.11:160348365:G:A
Gene:: NCSTN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.160348366G>A, NC_000001.10:g.160318156G>A, NG_050927.1:g.199C>T, NG_027935.1:g.10094G>A

Select item 148896581915.

rs1488965819 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:160350340 (GRCh38)
1:160320130 (GRCh37)
Canonical SPDI:: NC_000001.11:160350339:C:T
Gene:: NCSTN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.160350340C>T, NC_000001.10:g.160320130C>T, NG_027935.1:g.12068C>T

Select item 148890979516.

rs1488909795 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:160341906 (GRCh38)
1:160311696 (GRCh37)
Canonical SPDI:: NC_000001.11:160341905:A:G
Gene:: COPA (Varview), NCSTN (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000895/4 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000893/4 (Estonian)
HGVS:: NC_000001.11:g.160341906A>G, NC_000001.10:g.160311696A>G, NG_050927.1:g.6659T>C, NG_027935.1:g.3634A>G

Select item 148875595417.

rs1488755954 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 1:160343361 (GRCh38)
1:160313151 (GRCh37)
Canonical SPDI:: NC_000001.11:160343360:A:G,NC_000001.11:160343360:A:T
Gene:: COPA (Varview), NCSTN (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
HGVS:: NC_000001.11:g.160343361A>G, NC_000001.11:g.160343361A>T, NC_000001.10:g.160313151A>G, NC_000001.10:g.160313151A>T, NG_050927.1:g.5204T>C, NG_050927.1:g.5204T>A, NG_027935.1:g.5089A>G, NG_027935.1:g.5089A>T, NM_004371.3:c.-191T>C, NM_004371.3:c.-191T>A, NM_015331.2:c.-36A>G, NM_015331.2:c.-36A>T, NM_001098398.1:c.-191T>C, NM_001098398.1:c.-191T>A, NM_001290184.1:c.-235A>G, NM_001290184.1:c.-235A>T, NM_001349729.1:c.-36A>G, NM_001349729.1:c.-36A>T, NM_001290186.1:c.-36A>G, NM_001290186.1:c.-36A>T

Select item 148863471418.

rs1488634714 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:160349769 (GRCh38)
1:160319559 (GRCh37)
Canonical SPDI:: NC_000001.11:160349768:G:C
Gene:: NCSTN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.160349769G>C, NC_000001.10:g.160319559G>C, NG_027935.1:g.11497G>C

Select item 148812925519.

rs1488129255 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 1:160353004 (GRCh38)
1:160322794 (GRCh37)
Canonical SPDI:: NC_000001.11:160353003:T:
Gene:: NCSTN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.160353004del, NC_000001.10:g.160322794del, NG_027935.1:g.14732del

Select item 148802673320.

rs1488026733 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:160352957 (GRCh38)
1:160322747 (GRCh37)
Canonical SPDI:: NC_000001.11:160352956:T:C
Gene:: NCSTN (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.160352957T>C, NC_000001.10:g.160322747T>C, NG_027935.1:g.14685T>C, NM_015331.3:c.1067T>C, NM_015331.2:c.1067T>C, NM_001290184.2:c.1007T>C, NM_001290184.1:c.1007T>C, NM_001349729.2:c.1067T>C, NM_001349729.1:c.1067T>C, NM_001290186.2:c.653T>C, NM_001290186.1:c.653T>C, XM_005245053.6:c.1067T>C, XM_005245053.5:c.1067T>C, XM_005245053.4:c.1067T>C, XM_005245053.3:c.1067T>C, XM_005245053.2:c.1067T>C, XM_005245053.1:c.1067T>C, NP_056146.1:p.Leu356Ser, NP_001277113.1:p.Leu336Ser, NP_001336658.1:p.Leu356Ser, NP_001277115.1:p.Leu218Ser, XP_005245110.1:p.Leu356Ser

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