U.S. flag

An official website of the United States government

Display Settings:

Format

Send to:

Choose Destination
1.

rs13361 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A,C [Show Flanks]
    Chromosome:
    8:11844671 (GRCh38)
    8:11702180 (GRCh37)
    Canonical SPDI:
    NC_000008.11:11844670:G:A,NC_000008.11:11844670:G:C
    Gene:
    CTSB (Varview)
    Functional Consequence:
    3_prime_UTR_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0.000645/9 (ALFA)
    A=0.00229/17 (GnomAD_exomes)
    A=0.013889/3 (Qatari)
    A=0.02569/6800 (TOPMED)
    A=0.026358/132 (1000Genomes)
    A=0.0292/187 (1000Genomes_30X)
    G=0.5/3 (SGDP_PRJ)
    HGVS:
    NC_000008.11:g.11844671G>A, NC_000008.11:g.11844671G>C, NC_000008.10:g.11702180G>A, NC_000008.10:g.11702180G>C, NG_009217.2:g.28467C>T, NG_009217.2:g.28467C>G, NM_001908.5:c.*454C>T, NM_001908.5:c.*454C>G, NM_001908.4:c.*454C>T, NM_001908.4:c.*454C>G, NM_001908.3:c.*454C>T, NM_001908.3:c.*454C>G, NM_147780.4:c.*454C>T, NM_147780.4:c.*454C>G, NM_147780.3:c.*454C>T, NM_147780.3:c.*454C>G, NM_147780.2:c.*454C>T, NM_147780.2:c.*454C>G, NM_147781.4:c.*454C>T, NM_147781.4:c.*454C>G, NM_147781.3:c.*454C>T, NM_147781.3:c.*454C>G, NM_147781.2:c.*454C>T, NM_147781.2:c.*454C>G, NM_147782.4:c.*454C>T, NM_147782.4:c.*454C>G, NM_147782.3:c.*454C>T, NM_147782.3:c.*454C>G, NM_147782.2:c.*454C>T, NM_147782.2:c.*454C>G, NM_147783.4:c.*454C>T, NM_147783.4:c.*454C>G, NM_147783.3:c.*454C>T, NM_147783.3:c.*454C>G, NM_147783.2:c.*454C>T, NM_147783.2:c.*454C>G, NM_001317237.2:c.*454C>T, NM_001317237.2:c.*454C>G, NM_001317237.1:c.*454C>T, NM_001317237.1:c.*454C>G, NM_001384714.1:c.*454C>T, NM_001384714.1:c.*454C>G, NM_001384723.1:c.*454C>T, NM_001384723.1:c.*454C>G, NM_001384724.1:c.*454C>T, NM_001384724.1:c.*454C>G, NM_001384725.1:c.*454C>T, NM_001384725.1:c.*454C>G, NM_001384726.1:c.*454C>T, NM_001384726.1:c.*454C>G, NM_001384727.1:c.*454C>T, NM_001384727.1:c.*454C>G, NM_001384728.1:c.*454C>T, NM_001384728.1:c.*454C>G, NW_018654717.1:g.1503423C>T, NW_018654717.1:g.1503423C>G

    Supplemental Content

    Search details

    See more...

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...