U.S. flag

An official website of the United States government

Display Settings:

Format

Send to:

Choose Destination
1.

rs34950166 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    1:16006170 (GRCh38)
    1:16332665 (GRCh37)
    Canonical SPDI:
    NC_000001.11:16006169:C:T
    Gene:
    SRARP (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0.0174837/1147 (ALFA)
    T=0.0000129/1 (TOMMO)
    T=0.0057776/37 (1000Genomes_30X)
    T=0.0057907/29 (1000Genomes)
    T=0.0065789/2 (FINRISK)
    T=0.0093633/5 (MGP)
    T=0.0118304/53 (Estonian)
    T=0.0133582/1616 (ExAC)
    T=0.0136655/2041 (GnomAD_genomes)
    T=0.0138889/3 (Qatari)
    T=0.0140088/3708 (TOPMED)
    T=0.0174535/227 (GoESP)
    T=0.0183333/11 (NorthernSweden)
    T=0.0211317/29609 (GnomAD_exomes)
    T=0.0240022/89 (TWINSUK)
    T=0.0285418/110 (ALSPAC)
    T=0.0300601/30 (GoNL)
    C=0.5/3 (SGDP_PRJ)
    HGVS:

    Supplemental Content

    Search details

    See more...

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...