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Items: 1 to 20 of 5940

1.

rs1491532561 has merged into rs67622673 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ATATATATATATATATATATATATATAT>-,AT,ATAT,ATATAT,ATATATAT,ATATATATAT,ATATATATATAT,ATATATATATATAT,ATATATATATATATAT,ATATATATATATATATAT,ATATATATATATATATATAT,ATATATATATATATATATATAT,ATATATATATATATATATATATAT,ATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATATATATATAT [Show Flanks]
    Chromosome:
    6:46678038 (GRCh38)
    6:46645775 (GRCh37)
    Canonical SPDI:
    NC_000006.12:46678030:TATATATATATATATATATATATATATATATATAT:TATATAT,NC_000006.12:46678030:TATATATATATATATATATATATATATATATATAT:TATATATAT,NC_000006.12:46678030:TATATATATATATATATATATATATATATATATAT:TATATATATAT,NC_000006.12:46678030:TATATATATATATATATATATATATATATATATAT:TATATATATATAT,NC_000006.12:46678030:TATATATATATATATATATATATATATATATATAT:TATATATATATATAT,NC_000006.12:46678030:TATATATATATATATATATATATATATATATATAT:TATATATATATATATAT,NC_000006.12:46678030:TATATATATATATATATATATATATATATATATAT:TATATATATATATATATAT,NC_000006.12:46678030:TATATATATATATATATATATATATATATATATAT:TATATATATATATATATATAT,NC_000006.12:46678030:TATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATAT,NC_000006.12:46678030:TATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATAT,NC_000006.12:46678030:TATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATAT,NC_000006.12:46678030:TATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATAT,NC_000006.12:46678030:TATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATAT,NC_000006.12:46678030:TATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATAT,NC_000006.12:46678030:TATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATAT,NC_000006.12:46678030:TATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATAT,NC_000006.12:46678030:TATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATAT,NC_000006.12:46678030:TATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATAT,NC_000006.12:46678030:TATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATAT,NC_000006.12:46678030:TATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATAT,NC_000006.12:46678030:TATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000006.12:46678030:TATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000006.12:46678030:TATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000006.12:46678030:TATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000006.12:46678030:TATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000006.12:46678030:TATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000006.12:46678030:TATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000006.12:46678030:TATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT
    Gene:
    SLC25A27 (Varview), TDRD6-AS1 (Varview)
    Functional Consequence:
    3_prime_UTR_variant,non_coding_transcript_variant,intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TATATATAT=0./0 (ALFA)
    TATATATATATATATATATATATA=0./0 (GENOME_DK)
    TATATATATATATATATATATATA=0.0161/62 (ALSPAC)
    HGVS:
    NC_000006.12:g.46678032AT[3], NC_000006.12:g.46678032AT[4], NC_000006.12:g.46678032AT[5], NC_000006.12:g.46678032AT[6], NC_000006.12:g.46678032AT[7], NC_000006.12:g.46678032AT[8], NC_000006.12:g.46678032AT[9], NC_000006.12:g.46678032AT[10], NC_000006.12:g.46678032AT[11], NC_000006.12:g.46678032AT[12], NC_000006.12:g.46678032AT[13], NC_000006.12:g.46678032AT[14], NC_000006.12:g.46678032AT[15], NC_000006.12:g.46678032AT[16], NC_000006.12:g.46678032AT[18], NC_000006.12:g.46678032AT[19], NC_000006.12:g.46678032AT[20], NC_000006.12:g.46678032AT[21], NC_000006.12:g.46678032AT[22], NC_000006.12:g.46678032AT[23], NC_000006.12:g.46678032AT[24], NC_000006.12:g.46678032AT[25], NC_000006.12:g.46678032AT[26], NC_000006.12:g.46678032AT[27], NC_000006.12:g.46678032AT[28], NC_000006.12:g.46678032AT[29], NC_000006.12:g.46678032AT[30], NC_000006.12:g.46678032AT[31], NC_000006.11:g.46645769AT[3], NC_000006.11:g.46645769AT[4], NC_000006.11:g.46645769AT[5], NC_000006.11:g.46645769AT[6], NC_000006.11:g.46645769AT[7], NC_000006.11:g.46645769AT[8], NC_000006.11:g.46645769AT[9], NC_000006.11:g.46645769AT[10], NC_000006.11:g.46645769AT[11], NC_000006.11:g.46645769AT[12], NC_000006.11:g.46645769AT[13], NC_000006.11:g.46645769AT[14], NC_000006.11:g.46645769AT[15], NC_000006.11:g.46645769AT[16], NC_000006.11:g.46645769AT[18], NC_000006.11:g.46645769AT[19], NC_000006.11:g.46645769AT[20], NC_000006.11:g.46645769AT[21], NC_000006.11:g.46645769AT[22], NC_000006.11:g.46645769AT[23], NC_000006.11:g.46645769AT[24], NC_000006.11:g.46645769AT[25], NC_000006.11:g.46645769AT[26], NC_000006.11:g.46645769AT[27], NC_000006.11:g.46645769AT[28], NC_000006.11:g.46645769AT[29], NC_000006.11:g.46645769AT[30], NC_000006.11:g.46645769AT[31], NG_051941.1:g.2765AT[3], NG_051941.1:g.2765AT[4], NG_051941.1:g.2765AT[5], NG_051941.1:g.2765AT[6], NG_051941.1:g.2765AT[7], NG_051941.1:g.2765AT[8], NG_051941.1:g.2765AT[9], NG_051941.1:g.2765AT[10], NG_051941.1:g.2765AT[11], NG_051941.1:g.2765AT[12], NG_051941.1:g.2765AT[13], NG_051941.1:g.2765AT[14], NG_051941.1:g.2765AT[15], NG_051941.1:g.2765AT[16], NG_051941.1:g.2765AT[18], NG_051941.1:g.2765AT[19], NG_051941.1:g.2765AT[20], NG_051941.1:g.2765AT[21], NG_051941.1:g.2765AT[22], NG_051941.1:g.2765AT[23], NG_051941.1:g.2765AT[24], NG_051941.1:g.2765AT[25], NG_051941.1:g.2765AT[26], NG_051941.1:g.2765AT[27], NG_051941.1:g.2765AT[28], NG_051941.1:g.2765AT[29], NG_051941.1:g.2765AT[30], NG_051941.1:g.2765AT[31], NM_004277.5:c.*1578AT[3], NM_004277.5:c.*1578AT[4], NM_004277.5:c.*1578AT[5], NM_004277.5:c.*1578AT[6], NM_004277.5:c.*1578AT[7], NM_004277.5:c.*1578AT[8], NM_004277.5:c.*1578AT[9], NM_004277.5:c.*1578AT[10], NM_004277.5:c.*1578AT[11], NM_004277.5:c.*1578AT[12], NM_004277.5:c.*1578AT[13], NM_004277.5:c.*1578AT[14], NM_004277.5:c.*1578AT[15], NM_004277.5:c.*1578AT[16], NM_004277.5:c.*1578AT[18], NM_004277.5:c.*1578AT[19], NM_004277.5:c.*1578AT[20], NM_004277.5:c.*1578AT[21], NM_004277.5:c.*1578AT[22], NM_004277.5:c.*1578AT[23], NM_004277.5:c.*1578AT[24], NM_004277.5:c.*1578AT[25], NM_004277.5:c.*1578AT[26], NM_004277.5:c.*1578AT[27], NM_004277.5:c.*1578AT[28], NM_004277.5:c.*1578AT[29], NM_004277.5:c.*1578AT[30], NM_004277.5:c.*1578AT[31], NM_004277.4:c.*1578AT[3], NM_004277.4:c.*1578AT[4], NM_004277.4:c.*1578AT[5], NM_004277.4:c.*1578AT[6], NM_004277.4:c.*1578AT[7], NM_004277.4:c.*1578AT[8], NM_004277.4:c.*1578AT[9], NM_004277.4:c.*1578AT[10], NM_004277.4:c.*1578AT[11], NM_004277.4:c.*1578AT[12], NM_004277.4:c.*1578AT[13], NM_004277.4:c.*1578AT[14], NM_004277.4:c.*1578AT[15], NM_004277.4:c.*1578AT[16], NM_004277.4:c.*1578AT[18], NM_004277.4:c.*1578AT[19], NM_004277.4:c.*1578AT[20], NM_004277.4:c.*1578AT[21], NM_004277.4:c.*1578AT[22], NM_004277.4:c.*1578AT[23], NM_004277.4:c.*1578AT[24], NM_004277.4:c.*1578AT[25], NM_004277.4:c.*1578AT[26], NM_004277.4:c.*1578AT[27], NM_004277.4:c.*1578AT[28], NM_004277.4:c.*1578AT[29], NM_004277.4:c.*1578AT[30], NM_004277.4:c.*1578AT[31], XM_005249483.3:c.*1450AT[3], XM_005249483.3:c.*1450AT[4], XM_005249483.3:c.*1450AT[5], XM_005249483.3:c.*1450AT[6], XM_005249483.3:c.*1450AT[7], XM_005249483.3:c.*1450AT[8], XM_005249483.3:c.*1450AT[9], XM_005249483.3:c.*1450AT[10], XM_005249483.3:c.*1450AT[11], XM_005249483.3:c.*1450AT[12], XM_005249483.3:c.*1450AT[13], XM_005249483.3:c.*1450AT[14], XM_005249483.3:c.*1450AT[15], XM_005249483.3:c.*1450AT[16], XM_005249483.3:c.*1450AT[18], XM_005249483.3:c.*1450AT[19], XM_005249483.3:c.*1450AT[20], XM_005249483.3:c.*1450AT[21], XM_005249483.3:c.*1450AT[22], XM_005249483.3:c.*1450AT[23], XM_005249483.3:c.*1450AT[24], XM_005249483.3:c.*1450AT[25], XM_005249483.3:c.*1450AT[26], XM_005249483.3:c.*1450AT[27], XM_005249483.3:c.*1450AT[28], XM_005249483.3:c.*1450AT[29], XM_005249483.3:c.*1450AT[30], XM_005249483.3:c.*1450AT[31], XM_005249483.2:c.*1450AT[3], XM_005249483.2:c.*1450AT[4], XM_005249483.2:c.*1450AT[5], XM_005249483.2:c.*1450AT[6], XM_005249483.2:c.*1450AT[7], XM_005249483.2:c.*1450AT[8], XM_005249483.2:c.*1450AT[9], XM_005249483.2:c.*1450AT[10], XM_005249483.2:c.*1450AT[11], XM_005249483.2:c.*1450AT[12], XM_005249483.2:c.*1450AT[13], XM_005249483.2:c.*1450AT[14], XM_005249483.2:c.*1450AT[15], XM_005249483.2:c.*1450AT[16], XM_005249483.2:c.*1450AT[18], XM_005249483.2:c.*1450AT[19], XM_005249483.2:c.*1450AT[20], XM_005249483.2:c.*1450AT[21], XM_005249483.2:c.*1450AT[22], XM_005249483.2:c.*1450AT[23], XM_005249483.2:c.*1450AT[24], XM_005249483.2:c.*1450AT[25], XM_005249483.2:c.*1450AT[26], XM_005249483.2:c.*1450AT[27], XM_005249483.2:c.*1450AT[28], XM_005249483.2:c.*1450AT[29], XM_005249483.2:c.*1450AT[30], XM_005249483.2:c.*1450AT[31], NM_001204051.2:c.*1383AT[3], NM_001204051.2:c.*1383AT[4], NM_001204051.2:c.*1383AT[5], NM_001204051.2:c.*1383AT[6], NM_001204051.2:c.*1383AT[7], NM_001204051.2:c.*1383AT[8], NM_001204051.2:c.*1383AT[9], NM_001204051.2:c.*1383AT[10], NM_001204051.2:c.*1383AT[11], NM_001204051.2:c.*1383AT[12], NM_001204051.2:c.*1383AT[13], NM_001204051.2:c.*1383AT[14], NM_001204051.2:c.*1383AT[15], NM_001204051.2:c.*1383AT[16], NM_001204051.2:c.*1383AT[18], NM_001204051.2:c.*1383AT[19], NM_001204051.2:c.*1383AT[20], NM_001204051.2:c.*1383AT[21], NM_001204051.2:c.*1383AT[22], NM_001204051.2:c.*1383AT[23], NM_001204051.2:c.*1383AT[24], NM_001204051.2:c.*1383AT[25], NM_001204051.2:c.*1383AT[26], NM_001204051.2:c.*1383AT[27], NM_001204051.2:c.*1383AT[28], NM_001204051.2:c.*1383AT[29], NM_001204051.2:c.*1383AT[30], NM_001204051.2:c.*1383AT[31], NM_001204051.1:c.*1383AT[3], NM_001204051.1:c.*1383AT[4], NM_001204051.1:c.*1383AT[5], NM_001204051.1:c.*1383AT[6], NM_001204051.1:c.*1383AT[7], NM_001204051.1:c.*1383AT[8], NM_001204051.1:c.*1383AT[9], NM_001204051.1:c.*1383AT[10], NM_001204051.1:c.*1383AT[11], NM_001204051.1:c.*1383AT[12], NM_001204051.1:c.*1383AT[13], NM_001204051.1:c.*1383AT[14], NM_001204051.1:c.*1383AT[15], NM_001204051.1:c.*1383AT[16], NM_001204051.1:c.*1383AT[18], NM_001204051.1:c.*1383AT[19], NM_001204051.1:c.*1383AT[20], NM_001204051.1:c.*1383AT[21], NM_001204051.1:c.*1383AT[22], NM_001204051.1:c.*1383AT[23], NM_001204051.1:c.*1383AT[24], NM_001204051.1:c.*1383AT[25], NM_001204051.1:c.*1383AT[26], NM_001204051.1:c.*1383AT[27], NM_001204051.1:c.*1383AT[28], NM_001204051.1:c.*1383AT[29], NM_001204051.1:c.*1383AT[30], NM_001204051.1:c.*1383AT[31], NM_001204052.2:c.*1352AT[3], NM_001204052.2:c.*1352AT[4], NM_001204052.2:c.*1352AT[5], NM_001204052.2:c.*1352AT[6], NM_001204052.2:c.*1352AT[7], NM_001204052.2:c.*1352AT[8], NM_001204052.2:c.*1352AT[9], NM_001204052.2:c.*1352AT[10], NM_001204052.2:c.*1352AT[11], NM_001204052.2:c.*1352AT[12], NM_001204052.2:c.*1352AT[13], NM_001204052.2:c.*1352AT[14], NM_001204052.2:c.*1352AT[15], NM_001204052.2:c.*1352AT[16], NM_001204052.2:c.*1352AT[18], NM_001204052.2:c.*1352AT[19], NM_001204052.2:c.*1352AT[20], NM_001204052.2:c.*1352AT[21], NM_001204052.2:c.*1352AT[22], NM_001204052.2:c.*1352AT[23], NM_001204052.2:c.*1352AT[24], NM_001204052.2:c.*1352AT[25], NM_001204052.2:c.*1352AT[26], NM_001204052.2:c.*1352AT[27], NM_001204052.2:c.*1352AT[28], NM_001204052.2:c.*1352AT[29], NM_001204052.2:c.*1352AT[30], NM_001204052.2:c.*1352AT[31], NM_001204052.1:c.*1352AT[3], NM_001204052.1:c.*1352AT[4], NM_001204052.1:c.*1352AT[5], NM_001204052.1:c.*1352AT[6], NM_001204052.1:c.*1352AT[7], NM_001204052.1:c.*1352AT[8], NM_001204052.1:c.*1352AT[9], NM_001204052.1:c.*1352AT[10], NM_001204052.1:c.*1352AT[11], NM_001204052.1:c.*1352AT[12], NM_001204052.1:c.*1352AT[13], NM_001204052.1:c.*1352AT[14], NM_001204052.1:c.*1352AT[15], NM_001204052.1:c.*1352AT[16], NM_001204052.1:c.*1352AT[18], NM_001204052.1:c.*1352AT[19], NM_001204052.1:c.*1352AT[20], NM_001204052.1:c.*1352AT[21], NM_001204052.1:c.*1352AT[22], NM_001204052.1:c.*1352AT[23], NM_001204052.1:c.*1352AT[24], NM_001204052.1:c.*1352AT[25], NM_001204052.1:c.*1352AT[26], NM_001204052.1:c.*1352AT[27], NM_001204052.1:c.*1352AT[28], NM_001204052.1:c.*1352AT[29], NM_001204052.1:c.*1352AT[30], NM_001204052.1:c.*1352AT[31], XM_047419575.1:c.*1578AT[3], XM_047419575.1:c.*1578AT[4], XM_047419575.1:c.*1578AT[5], XM_047419575.1:c.*1578AT[6], XM_047419575.1:c.*1578AT[7], XM_047419575.1:c.*1578AT[8], XM_047419575.1:c.*1578AT[9], XM_047419575.1:c.*1578AT[10], XM_047419575.1:c.*1578AT[11], XM_047419575.1:c.*1578AT[12], XM_047419575.1:c.*1578AT[13], XM_047419575.1:c.*1578AT[14], XM_047419575.1:c.*1578AT[15], XM_047419575.1:c.*1578AT[16], XM_047419575.1:c.*1578AT[18], XM_047419575.1:c.*1578AT[19], XM_047419575.1:c.*1578AT[20], XM_047419575.1:c.*1578AT[21], XM_047419575.1:c.*1578AT[22], XM_047419575.1:c.*1578AT[23], XM_047419575.1:c.*1578AT[24], XM_047419575.1:c.*1578AT[25], XM_047419575.1:c.*1578AT[26], XM_047419575.1:c.*1578AT[27], XM_047419575.1:c.*1578AT[28], XM_047419575.1:c.*1578AT[29], XM_047419575.1:c.*1578AT[30], XM_047419575.1:c.*1578AT[31], XR_007059387.1:n.1901AT[3], XR_007059387.1:n.1901AT[4], XR_007059387.1:n.1901AT[5], XR_007059387.1:n.1901AT[6], XR_007059387.1:n.1901AT[7], XR_007059387.1:n.1901AT[8], XR_007059387.1:n.1901AT[9], XR_007059387.1:n.1901AT[10], XR_007059387.1:n.1901AT[11], XR_007059387.1:n.1901AT[12], XR_007059387.1:n.1901AT[13], XR_007059387.1:n.1901AT[14], XR_007059387.1:n.1901AT[15], XR_007059387.1:n.1901AT[16], XR_007059387.1:n.1901AT[18], XR_007059387.1:n.1901AT[19], XR_007059387.1:n.1901AT[20], XR_007059387.1:n.1901AT[21], XR_007059387.1:n.1901AT[22], XR_007059387.1:n.1901AT[23], XR_007059387.1:n.1901AT[24], XR_007059387.1:n.1901AT[25], XR_007059387.1:n.1901AT[26], XR_007059387.1:n.1901AT[27], XR_007059387.1:n.1901AT[28], XR_007059387.1:n.1901AT[29], XR_007059387.1:n.1901AT[30], XR_007059387.1:n.1901AT[31], XR_007059389.1:n.1678AT[3], XR_007059389.1:n.1678AT[4], XR_007059389.1:n.1678AT[5], XR_007059389.1:n.1678AT[6], XR_007059389.1:n.1678AT[7], XR_007059389.1:n.1678AT[8], XR_007059389.1:n.1678AT[9], XR_007059389.1:n.1678AT[10], XR_007059389.1:n.1678AT[11], XR_007059389.1:n.1678AT[12], XR_007059389.1:n.1678AT[13], XR_007059389.1:n.1678AT[14], XR_007059389.1:n.1678AT[15], XR_007059389.1:n.1678AT[16], XR_007059389.1:n.1678AT[18], XR_007059389.1:n.1678AT[19], XR_007059389.1:n.1678AT[20], XR_007059389.1:n.1678AT[21], XR_007059389.1:n.1678AT[22], XR_007059389.1:n.1678AT[23], XR_007059389.1:n.1678AT[24], XR_007059389.1:n.1678AT[25], XR_007059389.1:n.1678AT[26], XR_007059389.1:n.1678AT[27], XR_007059389.1:n.1678AT[28], XR_007059389.1:n.1678AT[29], XR_007059389.1:n.1678AT[30], XR_007059389.1:n.1678AT[31], XR_007059388.1:n.1637AT[3], XR_007059388.1:n.1637AT[4], XR_007059388.1:n.1637AT[5], XR_007059388.1:n.1637AT[6], XR_007059388.1:n.1637AT[7], XR_007059388.1:n.1637AT[8], XR_007059388.1:n.1637AT[9], XR_007059388.1:n.1637AT[10], XR_007059388.1:n.1637AT[11], XR_007059388.1:n.1637AT[12], XR_007059388.1:n.1637AT[13], XR_007059388.1:n.1637AT[14], XR_007059388.1:n.1637AT[15], XR_007059388.1:n.1637AT[16], XR_007059388.1:n.1637AT[18], XR_007059388.1:n.1637AT[19], XR_007059388.1:n.1637AT[20], XR_007059388.1:n.1637AT[21], XR_007059388.1:n.1637AT[22], XR_007059388.1:n.1637AT[23], XR_007059388.1:n.1637AT[24], XR_007059388.1:n.1637AT[25], XR_007059388.1:n.1637AT[26], XR_007059388.1:n.1637AT[27], XR_007059388.1:n.1637AT[28], XR_007059388.1:n.1637AT[29], XR_007059388.1:n.1637AT[30], XR_007059388.1:n.1637AT[31]
    3.

    rs1490851833 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>G,T [Show Flanks]
      Chromosome:
      6:46675402 (GRCh38)
      6:46643139 (GRCh37)
      Canonical SPDI:
      NC_000006.12:46675401:C:G,NC_000006.12:46675401:C:T
      Gene:
      SLC25A27 (Varview), TDRD6-AS1 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      G=0.000004/1 (TOPMED)
      T=0.000007/1 (GnomAD)
      HGVS:
      4.

      rs1490760096 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        ->GTGGA [Show Flanks]
        Chromosome:
        6:46672236 (GRCh38)
        6:46639974 (GRCh37)
        Canonical SPDI:
        NC_000006.12:46672236:TGGAGTGGA:TGGAGTGGAGTGGA
        Gene:
        SLC25A27 (Varview), TDRD6-AS1 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        TGGAGTGGAGTGGA=0./0 (ALFA)
        TGGAG=0.000004/1 (TOPMED)
        TGGAG=0.000007/1 (GnomAD)
        TGGAG=0.000106/2 (TOMMO)
        HGVS:
        5.

        rs1490733692 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          6:46656662 (GRCh38)
          6:46624399 (GRCh37)
          Canonical SPDI:
          NC_000006.12:46656661:A:G
          Gene:
          SLC25A27 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          G=0.000007/1 (GnomAD)
          G=0.000011/3 (TOPMED)
          HGVS:
          6.

          rs1490714082 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            6:46655490 (GRCh38)
            6:46623227 (GRCh37)
            Canonical SPDI:
            NC_000006.12:46655489:G:A
            Gene:
            SLC25A27 (Varview)
            Functional Consequence:
            genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            A=0./0 (ALFA)
            A=0.000008/1 (GnomAD)
            HGVS:
            7.

            rs1490598272 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              ->AG [Show Flanks]
              Chromosome:
              6:46672920 (GRCh38)
              6:46640658 (GRCh37)
              Canonical SPDI:
              NC_000006.12:46672920:AG:AGAG
              Gene:
              SLC25A27 (Varview), TDRD6-AS1 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              AGAG=0./0 (ALFA)
              AG=0.000007/1 (GnomAD)
              AG=0.000026/7 (TOPMED)
              HGVS:
              8.

              rs1490549975 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                6:46655772 (GRCh38)
                6:46623509 (GRCh37)
                Canonical SPDI:
                NC_000006.12:46655771:C:T
                Gene:
                SLC25A27 (Varview)
                Functional Consequence:
                genic_upstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant,intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                T=0./0 (ALFA)
                T=0.000004/1 (TOPMED)
                HGVS:
                9.

                rs1490431721 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>A [Show Flanks]
                  Chromosome:
                  6:46663586 (GRCh38)
                  6:46631323 (GRCh37)
                  Canonical SPDI:
                  NC_000006.12:46663585:T:A
                  Gene:
                  SLC25A27 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000004/1 (TOPMED)
                  A=0.000007/1 (GnomAD)
                  HGVS:
                  10.

                  rs1490364920 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>G [Show Flanks]
                    Chromosome:
                    6:46665124 (GRCh38)
                    6:46632861 (GRCh37)
                    Canonical SPDI:
                    NC_000006.12:46665123:T:G
                    Gene:
                    SLC25A27 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000004/1 (TOPMED)
                    HGVS:
                    11.

                    rs1490175741 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      ->CTGTGTGTGTGTGT [Show Flanks]
                      Chromosome:
                      6:46660238 (GRCh38)
                      6:46627976 (GRCh37)
                      Canonical SPDI:
                      NC_000006.12:46660238:TGTGTGTGTGTGT:TGTGTGTGTGTGTCTGTGTGTGTGTGT
                      Gene:
                      SLC25A27 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      TGTGTGTGTGTGTCTGTGTGTGTGTGT=0./0 (ALFA)
                      TGTGTGTGTGTGTC=0.000014/2 (GnomAD)
                      HGVS:
                      12.

                      rs1490160762 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A,C [Show Flanks]
                        Chromosome:
                        6:46662591 (GRCh38)
                        6:46630328 (GRCh37)
                        Canonical SPDI:
                        NC_000006.12:46662590:G:A,NC_000006.12:46662590:G:C
                        Gene:
                        SLC25A27 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        A=0.000004/1 (TOPMED)
                        C=0.000007/1 (GnomAD)
                        HGVS:
                        13.

                        rs1490027078 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          6:46658868 (GRCh38)
                          6:46626605 (GRCh37)
                          Canonical SPDI:
                          NC_000006.12:46658867:T:C
                          Gene:
                          SLC25A27 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000004/1 (GnomAD_exomes)
                          C=0.000004/1 (TOPMED)
                          C=0.000007/1 (GnomAD)
                          HGVS:
                          14.

                          rs1489917897 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            6:46674737 (GRCh38)
                            6:46642474 (GRCh37)
                            Canonical SPDI:
                            NC_000006.12:46674736:G:A
                            Gene:
                            SLC25A27 (Varview), TDRD6-AS1 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000004/1 (TOPMED)
                            A=0.000007/1 (GnomAD)
                            HGVS:
                            15.

                            rs1489843428 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              6:46657143 (GRCh38)
                              6:46624880 (GRCh37)
                              Canonical SPDI:
                              NC_000006.12:46657142:G:A
                              Gene:
                              SLC25A27 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000004/1 (TOPMED)
                              A=0.000014/2 (GnomAD)
                              HGVS:
                              16.

                              rs1489800820 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                6:46673460 (GRCh38)
                                6:46641197 (GRCh37)
                                Canonical SPDI:
                                NC_000006.12:46673459:G:A
                                Gene:
                                SLC25A27 (Varview), TDRD6-AS1 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000019/5 (TOPMED)
                                A=0.000036/5 (GnomAD)
                                HGVS:
                                17.

                                rs1489573798 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  G>- [Show Flanks]
                                  Chromosome:
                                  6:46653351 (GRCh38)
                                  6:46621088 (GRCh37)
                                  Canonical SPDI:
                                  NC_000006.12:46653350:GGGGG:GGGG
                                  Gene:
                                  SLC25A27 (Varview), CYP39A1 (Varview)
                                  Functional Consequence:
                                  genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  GGGG=0./0 (ALFA)
                                  -=0.000006/1 (GnomAD_exomes)
                                  HGVS:
                                  18.

                                  rs1489483142 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    ->T [Show Flanks]
                                    Chromosome:
                                    6:46674904 (GRCh38)
                                    6:46642642 (GRCh37)
                                    Canonical SPDI:
                                    NC_000006.12:46674904:T:TT
                                    Gene:
                                    SLC25A27 (Varview), TDRD6-AS1 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    TT=0./0 (ALFA)
                                    T=0.000007/1 (GnomAD)
                                    T=0.000023/6 (TOPMED)
                                    HGVS:
                                    19.

                                    rs1489454287 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      6:46657502 (GRCh38)
                                      6:46625239 (GRCh37)
                                      Canonical SPDI:
                                      NC_000006.12:46657501:A:G
                                      Gene:
                                      SLC25A27 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000004/1 (TOPMED)
                                      HGVS:
                                      20.

                                      rs1489246357 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        6:46655769 (GRCh38)
                                        6:46623506 (GRCh37)
                                        Canonical SPDI:
                                        NC_000006.12:46655768:A:G
                                        Gene:
                                        SLC25A27 (Varview)
                                        Functional Consequence:
                                        genic_upstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000004/1 (TOPMED)
                                        HGVS:

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