U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from Gene

Items: 1 to 20 of 1000

1.

rs1491187733 has merged into rs56286940 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    AAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
    Chromosome:
    3:147409045 (GRCh38)
    3:147126832 (GRCh37)
    Canonical SPDI:
    NC_000003.12:147409035:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000003.12:147409035:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000003.12:147409035:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000003.12:147409035:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:147409035:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:147409035:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:147409035:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:147409035:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:147409035:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:147409035:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:147409035:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:147409035:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:147409035:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:147409035:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:147409035:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:147409035:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:147409035:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:147409035:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:147409035:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:147409035:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:147409035:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:147409035:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:147409035:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:147409035:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:147409035:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:147409035:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:147409035:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:147409035:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:147409035:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:147409035:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:147409035:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:147409035:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:147409035:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:147409035:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:147409035:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:147409035:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:147409035:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:147409035:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:147409035:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:147409035:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:147409035:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:147409035:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:147409035:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:147409035:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:147409035:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:147409035:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:147409035:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:147409035:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:147409035:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:147409035:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:147409035:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:147409035:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:147409035:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:147409035:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:147409035:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:147409035:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:147409035:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:147409035:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:147409035:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:147409035:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:147409035:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:147409035:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAA
    Gene:
    ZIC1 (Varview)
    Functional Consequence:
    upstream_transcript_variant,2KB_upstream_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    AAAAAAAAA=0./0 (ALFA)
    HGVS:
    NC_000003.12:g.147409045_147409060del, NC_000003.12:g.147409046_147409060del, NC_000003.12:g.147409047_147409060del, NC_000003.12:g.147409048_147409060del, NC_000003.12:g.147409049_147409060del, NC_000003.12:g.147409050_147409060del, NC_000003.12:g.147409051_147409060del, NC_000003.12:g.147409052_147409060del, NC_000003.12:g.147409053_147409060del, NC_000003.12:g.147409054_147409060del, NC_000003.12:g.147409055_147409060del, NC_000003.12:g.147409056_147409060del, NC_000003.12:g.147409057_147409060del, NC_000003.12:g.147409058_147409060del, NC_000003.12:g.147409059_147409060del, NC_000003.12:g.147409060del, NC_000003.12:g.147409060dup, NC_000003.12:g.147409059_147409060dup, NC_000003.12:g.147409058_147409060dup, NC_000003.12:g.147409057_147409060dup, NC_000003.12:g.147409056_147409060dup, NC_000003.12:g.147409055_147409060dup, NC_000003.12:g.147409054_147409060dup, NC_000003.12:g.147409053_147409060dup, NC_000003.12:g.147409052_147409060dup, NC_000003.12:g.147409051_147409060dup, NC_000003.12:g.147409050_147409060dup, NC_000003.12:g.147409049_147409060dup, NC_000003.12:g.147409048_147409060dup, NC_000003.12:g.147409047_147409060dup, NC_000003.12:g.147409046_147409060dup, NC_000003.12:g.147409045_147409060dup, NC_000003.12:g.147409044_147409060dup, NC_000003.12:g.147409043_147409060dup, NC_000003.12:g.147409042_147409060dup, NC_000003.12:g.147409041_147409060dup, NC_000003.12:g.147409040_147409060dup, NC_000003.12:g.147409039_147409060dup, NC_000003.12:g.147409060_147409061insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.147409060_147409061insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.147409036_147409060A[55]TAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.12:g.147409036_147409060A[45]GAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.12:g.147409036_147409060A[45]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.12:g.147409036_147409060A[40]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.12:g.147409036_147409060A[38]GAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.12:g.147409036_147409060A[35]GAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.12:g.147409036_147409060A[33]GAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.12:g.147409036_147409060A[33]GAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.12:g.147409036_147409060A[33]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.12:g.147409036_147409060A[32]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.12:g.147409036_147409060A[31]GAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.12:g.147409036_147409060A[30]GAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.12:g.147409036_147409060A[30]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.12:g.147409036_147409060A[29]GAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.12:g.147409036_147409060A[29]GAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.12:g.147409036_147409060A[29]GAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.12:g.147409036_147409060A[29]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.12:g.147409036_147409060A[28]GAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.12:g.147409036_147409060A[27]GAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.12:g.147409036_147409060A[27]GAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.12:g.147409036_147409060A[27]GAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.12:g.147409036_147409060A[26]GAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.11:g.147126832_147126847del, NC_000003.11:g.147126833_147126847del, NC_000003.11:g.147126834_147126847del, NC_000003.11:g.147126835_147126847del, NC_000003.11:g.147126836_147126847del, NC_000003.11:g.147126837_147126847del, NC_000003.11:g.147126838_147126847del, NC_000003.11:g.147126839_147126847del, NC_000003.11:g.147126840_147126847del, NC_000003.11:g.147126841_147126847del, NC_000003.11:g.147126842_147126847del, NC_000003.11:g.147126843_147126847del, NC_000003.11:g.147126844_147126847del, NC_000003.11:g.147126845_147126847del, NC_000003.11:g.147126846_147126847del, NC_000003.11:g.147126847del, NC_000003.11:g.147126847dup, NC_000003.11:g.147126846_147126847dup, NC_000003.11:g.147126845_147126847dup, NC_000003.11:g.147126844_147126847dup, NC_000003.11:g.147126843_147126847dup, NC_000003.11:g.147126842_147126847dup, NC_000003.11:g.147126841_147126847dup, NC_000003.11:g.147126840_147126847dup, NC_000003.11:g.147126839_147126847dup, NC_000003.11:g.147126838_147126847dup, NC_000003.11:g.147126837_147126847dup, NC_000003.11:g.147126836_147126847dup, NC_000003.11:g.147126835_147126847dup, NC_000003.11:g.147126834_147126847dup, NC_000003.11:g.147126833_147126847dup, NC_000003.11:g.147126832_147126847dup, NC_000003.11:g.147126831_147126847dup, NC_000003.11:g.147126830_147126847dup, NC_000003.11:g.147126829_147126847dup, NC_000003.11:g.147126828_147126847dup, NC_000003.11:g.147126827_147126847dup, NC_000003.11:g.147126826_147126847dup, NC_000003.11:g.147126847_147126848insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.147126847_147126848insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.147126823_147126847A[55]TAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.11:g.147126823_147126847A[45]GAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.11:g.147126823_147126847A[45]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.11:g.147126823_147126847A[40]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.11:g.147126823_147126847A[38]GAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.11:g.147126823_147126847A[35]GAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.11:g.147126823_147126847A[33]GAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.11:g.147126823_147126847A[33]GAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.11:g.147126823_147126847A[33]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.11:g.147126823_147126847A[32]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.11:g.147126823_147126847A[31]GAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.11:g.147126823_147126847A[30]GAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.11:g.147126823_147126847A[30]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.11:g.147126823_147126847A[29]GAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.11:g.147126823_147126847A[29]GAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.11:g.147126823_147126847A[29]GAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.11:g.147126823_147126847A[29]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.11:g.147126823_147126847A[28]GAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.11:g.147126823_147126847A[27]GAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.11:g.147126823_147126847A[27]GAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.11:g.147126823_147126847A[27]GAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.11:g.147126823_147126847A[26]GAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_009242.1:g.2570_2585del, NG_009242.1:g.2571_2585del, NG_009242.1:g.2572_2585del, NG_009242.1:g.2573_2585del, NG_009242.1:g.2574_2585del, NG_009242.1:g.2575_2585del, NG_009242.1:g.2576_2585del, NG_009242.1:g.2577_2585del, NG_009242.1:g.2578_2585del, NG_009242.1:g.2579_2585del, NG_009242.1:g.2580_2585del, NG_009242.1:g.2581_2585del, NG_009242.1:g.2582_2585del, NG_009242.1:g.2583_2585del, NG_009242.1:g.2584_2585del, NG_009242.1:g.2585del, NG_009242.1:g.2585dup, NG_009242.1:g.2584_2585dup, NG_009242.1:g.2583_2585dup, NG_009242.1:g.2582_2585dup, NG_009242.1:g.2581_2585dup, NG_009242.1:g.2580_2585dup, NG_009242.1:g.2579_2585dup, NG_009242.1:g.2578_2585dup, NG_009242.1:g.2577_2585dup, NG_009242.1:g.2576_2585dup, NG_009242.1:g.2575_2585dup, NG_009242.1:g.2574_2585dup, NG_009242.1:g.2573_2585dup, NG_009242.1:g.2572_2585dup, NG_009242.1:g.2571_2585dup, NG_009242.1:g.2570_2585dup, NG_009242.1:g.2569_2585dup, NG_009242.1:g.2568_2585dup, NG_009242.1:g.2567_2585dup, NG_009242.1:g.2566_2585dup, NG_009242.1:g.2565_2585dup, NG_009242.1:g.2564_2585dup, NG_009242.1:g.2585_2586insTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_009242.1:g.2585_2586insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_009242.1:g.2561_2585T[28]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_009242.1:g.2561_2585T[26]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_009242.1:g.2561_2585T[29]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_009242.1:g.2561_2585T[29]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_009242.1:g.2561_2585T[27]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_009242.1:g.2561_2585T[27]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_009242.1:g.2561_2585T[27]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_009242.1:g.2561_2585T[28]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_009242.1:g.2561_2585T[29]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_009242.1:g.2561_2585T[29]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_009242.1:g.2561_2585T[28]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_009242.1:g.2561_2585T[26]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_009242.1:g.2561_2585T[29]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_009242.1:g.2561_2585T[26]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_009242.1:g.2561_2585T[27]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_009242.1:g.2561_2585T[28]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_009242.1:g.2561_2585T[29]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_009242.1:g.2561_2585T[27]CTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_009242.1:g.2561_2585T[25]CTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_009242.1:g.2561_2585T[26]CTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_009242.1:g.2561_2585T[27]CTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_009242.1:g.2561_2585T[27]CTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_015886.1:g.4652_4667del, NG_015886.1:g.4653_4667del, NG_015886.1:g.4654_4667del, NG_015886.1:g.4655_4667del, NG_015886.1:g.4656_4667del, NG_015886.1:g.4657_4667del, NG_015886.1:g.4658_4667del, NG_015886.1:g.4659_4667del, NG_015886.1:g.4660_4667del, NG_015886.1:g.4661_4667del, NG_015886.1:g.4662_4667del, NG_015886.1:g.4663_4667del, NG_015886.1:g.4664_4667del, NG_015886.1:g.4665_4667del, NG_015886.1:g.4666_4667del, NG_015886.1:g.4667del, NG_015886.1:g.4667dup, NG_015886.1:g.4666_4667dup, NG_015886.1:g.4665_4667dup, NG_015886.1:g.4664_4667dup, NG_015886.1:g.4663_4667dup, NG_015886.1:g.4662_4667dup, NG_015886.1:g.4661_4667dup, NG_015886.1:g.4660_4667dup, NG_015886.1:g.4659_4667dup, NG_015886.1:g.4658_4667dup, NG_015886.1:g.4657_4667dup, NG_015886.1:g.4656_4667dup, NG_015886.1:g.4655_4667dup, NG_015886.1:g.4654_4667dup, NG_015886.1:g.4653_4667dup, NG_015886.1:g.4652_4667dup, NG_015886.1:g.4651_4667dup, NG_015886.1:g.4650_4667dup, NG_015886.1:g.4649_4667dup, NG_015886.1:g.4648_4667dup, NG_015886.1:g.4647_4667dup, NG_015886.1:g.4646_4667dup, NG_015886.1:g.4667_4668insAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_015886.1:g.4667_4668insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_015886.1:g.4643_4667A[55]TAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_015886.1:g.4643_4667A[45]GAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_015886.1:g.4643_4667A[45]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_015886.1:g.4643_4667A[40]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_015886.1:g.4643_4667A[38]GAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_015886.1:g.4643_4667A[35]GAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_015886.1:g.4643_4667A[33]GAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_015886.1:g.4643_4667A[33]GAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_015886.1:g.4643_4667A[33]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_015886.1:g.4643_4667A[32]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_015886.1:g.4643_4667A[31]GAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_015886.1:g.4643_4667A[30]GAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_015886.1:g.4643_4667A[30]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_015886.1:g.4643_4667A[29]GAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_015886.1:g.4643_4667A[29]GAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_015886.1:g.4643_4667A[29]GAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_015886.1:g.4643_4667A[29]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_015886.1:g.4643_4667A[28]GAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_015886.1:g.4643_4667A[27]GAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_015886.1:g.4643_4667A[27]GAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_015886.1:g.4643_4667A[27]GAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_015886.1:g.4643_4667A[26]GAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]
    2.

    rs1491098340 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      CA>- [Show Flanks]
      Chromosome:
      3:147409035 (GRCh38)
      3:147126822 (GRCh37)
      Canonical SPDI:
      NC_000003.12:147409034:CA:
      Gene:
      ZIC1 (Varview)
      Functional Consequence:
      upstream_transcript_variant,2KB_upstream_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      -=0./0 (ALFA)
      -=0.00009/2 (TOMMO)
      HGVS:
      3.

      rs1491000270 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A,C [Show Flanks]
        Chromosome:
        3:147410082 (GRCh38)
        3:147127869 (GRCh37)
        Canonical SPDI:
        NC_000003.12:147410081:G:A,NC_000003.12:147410081:G:C
        Gene:
        ZIC1 (Varview)
        Functional Consequence:
        5_prime_UTR_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        A=0.000011/3 (TOPMED)
        A=0.000014/2 (GnomAD)
        HGVS:
        4.

        rs1490891164 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          3:147410643 (GRCh38)
          3:147128430 (GRCh37)
          Canonical SPDI:
          NC_000003.12:147410642:G:A
          Gene:
          ZIC1 (Varview)
          Functional Consequence:
          coding_sequence_variant,synonymous_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0./0 (GnomAD)
          A=0.000004/1 (GnomAD_exomes)
          A=0.000004/1 (TOPMED)
          HGVS:
          5.

          rs1490023392 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>G [Show Flanks]
            Chromosome:
            3:147416736 (GRCh38)
            3:147134523 (GRCh37)
            Canonical SPDI:
            NC_000003.12:147416735:C:G
            Gene:
            ZIC1 (Varview)
            Functional Consequence:
            downstream_transcript_variant,500B_downstream_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0./0 (ALFA)
            G=0.000004/1 (TOPMED)
            G=0.000007/1 (GnomAD)
            HGVS:
            6.

            rs1489929501 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              3:147415817 (GRCh38)
              3:147133604 (GRCh37)
              Canonical SPDI:
              NC_000003.12:147415816:A:G
              Gene:
              ZIC1 (Varview)
              Functional Consequence:
              3_prime_UTR_variant
              HGVS:
              7.

              rs1489882790 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>C,T [Show Flanks]
                Chromosome:
                3:147416779 (GRCh38)
                3:147134566 (GRCh37)
                Canonical SPDI:
                NC_000003.12:147416778:G:C,NC_000003.12:147416778:G:T
                Gene:
                ZIC1 (Varview)
                Functional Consequence:
                downstream_transcript_variant,500B_downstream_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                C=0.000008/2 (TOPMED)
                HGVS:
                8.

                rs1489857469 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  3:147410363 (GRCh38)
                  3:147128150 (GRCh37)
                  Canonical SPDI:
                  NC_000003.12:147410362:G:A
                  Gene:
                  ZIC1 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant
                  HGVS:
                  9.

                  rs1489696385 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    3:147411052 (GRCh38)
                    3:147128839 (GRCh37)
                    Canonical SPDI:
                    NC_000003.12:147411051:G:A
                    Gene:
                    ZIC1 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant
                    HGVS:
                    10.

                    rs1489617520 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      3:147413401 (GRCh38)
                      3:147131188 (GRCh37)
                      Canonical SPDI:
                      NC_000003.12:147413400:C:T
                      Gene:
                      ZIC1 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,synonymous_variant
                      Validated:
                      by frequency
                      MAF:
                      T=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      11.

                      rs1489453019 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G,T [Show Flanks]
                        Chromosome:
                        3:147416750 (GRCh38)
                        3:147134537 (GRCh37)
                        Canonical SPDI:
                        NC_000003.12:147416749:A:G,NC_000003.12:147416749:A:T
                        Gene:
                        ZIC1 (Varview)
                        Functional Consequence:
                        downstream_transcript_variant,500B_downstream_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        G=0.000004/1 (TOPMED)
                        HGVS:
                        12.

                        rs1489208542 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          3:147408091 (GRCh38)
                          3:147125878 (GRCh37)
                          Canonical SPDI:
                          NC_000003.12:147408090:A:G
                          Gene:
                          ZIC1 (Varview), ZIC4 (Varview)
                          Functional Consequence:
                          upstream_transcript_variant,2KB_upstream_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000007/1 (GnomAD)
                          HGVS:
                          13.

                          rs1488980647 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            3:147415721 (GRCh38)
                            3:147133508 (GRCh37)
                            Canonical SPDI:
                            NC_000003.12:147415720:C:T
                            Gene:
                            ZIC1 (Varview)
                            Functional Consequence:
                            3_prime_UTR_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            T=0.000071/1 (ALFA)
                            T=0.000007/1 (GnomAD)
                            HGVS:
                            14.

                            rs1488703404 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>A [Show Flanks]
                              Chromosome:
                              3:147413325 (GRCh38)
                              3:147131112 (GRCh37)
                              Canonical SPDI:
                              NC_000003.12:147413324:T:A
                              Gene:
                              ZIC1 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency
                              MAF:
                              A=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              15.

                              rs1488652699 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A,T [Show Flanks]
                                Chromosome:
                                3:147410584 (GRCh38)
                                3:147128371 (GRCh37)
                                Canonical SPDI:
                                NC_000003.12:147410583:G:A,NC_000003.12:147410583:G:T
                                Gene:
                                ZIC1 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000004/1 (GnomAD_exomes)
                                A=0.000389/7 (TOMMO)
                                G=0.5/1 (SGDP_PRJ)
                                HGVS:
                                16.

                                rs1488620572 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>A [Show Flanks]
                                  Chromosome:
                                  3:147416298 (GRCh38)
                                  3:147134085 (GRCh37)
                                  Canonical SPDI:
                                  NC_000003.12:147416297:T:A
                                  Gene:
                                  ZIC1 (Varview)
                                  Functional Consequence:
                                  3_prime_UTR_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  A=0.000071/1 (ALFA)
                                  A=0.000004/1 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1488532405 has merged into rs746107511 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    G>-,GG [Show Flanks]
                                    Chromosome:
                                    3:147410071 (GRCh38)
                                    3:147127858 (GRCh37)
                                    Canonical SPDI:
                                    NC_000003.12:147410070:GGGGGGGG:GGGGGGG,NC_000003.12:147410070:GGGGGGGG:GGGGGGGGG
                                    Gene:
                                    ZIC1 (Varview)
                                    Functional Consequence:
                                    5_prime_UTR_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    GGGGGGGGG=0.00018/3 (ALFA)
                                    G=0.00006/1 (TOMMO)
                                    -=0.00068/3 (Estonian)
                                    -=0.0027/2 (ExAC)
                                    HGVS:
                                    18.

                                    rs1488001000 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A,C [Show Flanks]
                                      Chromosome:
                                      3:147414569 (GRCh38)
                                      3:147132356 (GRCh37)
                                      Canonical SPDI:
                                      NC_000003.12:147414568:G:A,NC_000003.12:147414568:G:C
                                      Gene:
                                      ZIC1 (Varview)
                                      Functional Consequence:
                                      3_prime_UTR_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      C=0./0 (ALFA)
                                      HGVS:
                                      19.

                                      rs1487887337 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>G [Show Flanks]
                                        Chromosome:
                                        3:147414750 (GRCh38)
                                        3:147132537 (GRCh37)
                                        Canonical SPDI:
                                        NC_000003.12:147414749:C:G
                                        Gene:
                                        ZIC1 (Varview)
                                        Functional Consequence:
                                        3_prime_UTR_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0.000071/1 (ALFA)
                                        G=0.000007/1 (GnomAD)
                                        G=0.000034/9 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1487827538 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          3:147408957 (GRCh38)
                                          3:147126744 (GRCh37)
                                          Canonical SPDI:
                                          NC_000003.12:147408956:G:A
                                          Gene:
                                          ZIC1 (Varview)
                                          Functional Consequence:
                                          upstream_transcript_variant,2KB_upstream_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000007/1 (GnomAD)
                                          HGVS:

                                          Display Settings:

                                          Format
                                          Items per page
                                          Sort by

                                          Send to:

                                          Choose Destination

                                          Supplemental Content

                                          Find related data

                                          Recent activity

                                          Your browsing activity is empty.

                                          Activity recording is turned off.

                                          Turn recording back on

                                          See more...