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Select item 17997591.

rs1799759 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATGGT>-,ATGGTATGGT [Show Flanks]
Chromosome:: 12:9093582 (GRCh38)
12:9246178 (GRCh37)
Canonical SPDI:: NC_000012.12:9093580:TATGGT:T,NC_000012.12:9093580:TATGGT:TATGGTATGGT
Gene:: A2M (Varview), KLRG1 (Varview)
Functional Consequence:: intron_variant,splice_acceptor_variant,genic_downstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.1605731/4427 (ALFA)
-=0.0367879/2849 (TOMMO)
-=0.0396847/287 (Korea4K)
-=0.0463974/85 (Korea1K)
-=0.1411975/632 (Estonian)
-=0.1450441/559 (ALSPAC)
-=0.1463477/197990 (GnomAD_exomes)
-=0.146471/938 (1000Genomes_30X)
-=0.1465655/734 (1000Genomes)
-=0.1470738/11575 (PAGE_STUDY)
-=0.150681/16640 (ExAC)
-=0.1593186/159 (GoNL)
-=0.1601942/594 (TWINSUK)
-=0.1610017/23864 (GnomAD_genomes)
-=0.1616667/97 (NorthernSweden)
-=0.1618693/1867 (GoESP)
-=0.1624769/43006 (TOPMED)
-=0.175/7 (GENOME_DK)
HGVS:: NC_000012.12:g.9093582_9093586del, NC_000012.12:g.9093582_9093586dup, NC_000012.11:g.9246178_9246182del, NC_000012.11:g.9246178_9246182dup, NG_011717.2:g.27378_27382del, NG_011717.2:g.27378_27382dup

Supplemental Content

dbSNP