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Select item 14914913991.

rs1491491399 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 2:56091826 (GRCh38)
2:56318961 (GRCh37)
Canonical SPDI:: NC_000002.12:56091825:AT:
Gene:: LINC01813 (Varview), LOC105374690 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00012/2 (ALFA)
-=0.00029/8 (TOMMO)
HGVS:: NC_000002.12:g.56091826_56091827del, NC_000002.11:g.56318961_56318962del

Select item 14913453702.

rs1491345370 has merged into rs10523261 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTAATTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTATTATTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTCATATTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:56091838 (GRCh38)
2:56318973 (GRCh37)
Canonical SPDI:: NC_000002.12:56091826:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:56091826:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:56091826:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:56091826:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:56091826:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:56091826:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:56091826:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:56091826:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:56091826:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:56091826:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:56091826:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:56091826:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:56091826:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:56091826:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:56091826:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:56091826:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTAATTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:56091826:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:56091826:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:56091826:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:56091826:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:56091826:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:56091826:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:56091826:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:56091826:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:56091826:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTATTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:56091826:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:56091826:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:56091826:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:56091826:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:56091826:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:56091826:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:56091826:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:56091826:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:56091826:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:56091826:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCATATTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:56091826:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:56091826:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:56091826:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:56091826:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:56091826:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:56091826:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:56091826:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:56091826:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:56091826:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:56091826:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:56091826:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:56091826:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:56091826:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:56091826:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:56091826:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:56091826:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:56091826:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:56091826:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:56091826:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:56091826:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:56091826:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:56091826:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:56091826:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:56091826:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:56091826:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:56091826:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:56091826:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:56091826:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:56091826:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:56091826:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:56091826:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:56091826:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:56091826:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: LINC01813 (Varview), LOC105374690 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000002.12:g.56091838_56091849del, NC_000002.12:g.56091839_56091849del, NC_000002.12:g.56091840_56091849del, NC_000002.12:g.56091841_56091849del, NC_000002.12:g.56091842_56091849del, NC_000002.12:g.56091843_56091849del, NC_000002.12:g.56091844_56091849del, NC_000002.12:g.56091845_56091849del, NC_000002.12:g.56091846_56091849del, NC_000002.12:g.56091847_56091849del, NC_000002.12:g.56091848_56091849del, NC_000002.12:g.56091849del, NC_000002.12:g.56091849dup, NC_000002.12:g.56091848_56091849dup, NC_000002.12:g.56091847_56091849dup, NC_000002.12:g.56091827_56091849T[26]AATTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.56091846_56091849dup, NC_000002.12:g.56091845_56091849dup, NC_000002.12:g.56091844_56091849dup, NC_000002.12:g.56091843_56091849dup, NC_000002.12:g.56091842_56091849dup, NC_000002.12:g.56091841_56091849dup, NC_000002.12:g.56091840_56091849dup, NC_000002.12:g.56091827_56091849T[33]AT[2]T[30], NC_000002.12:g.56091827_56091849T[33]ATT[2]T[7]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.56091839_56091849dup, NC_000002.12:g.56091838_56091849dup, NC_000002.12:g.56091827_56091849T[35]ATTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.56091827_56091849T[35]ATTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.56091827_56091849T[35]CTTTTTTTTTTGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.56091837_56091849dup, NC_000002.12:g.56091827_56091849T[36]ATTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.56091827_56091849T[36]ATTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.56091827_56091849T[36]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.56091827_56091849T[36]CATATTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.56091827_56091849T[36]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.56091836_56091849dup, NC_000002.12:g.56091835_56091849dup, NC_000002.12:g.56091827_56091849T[38]ATTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.56091834_56091849dup, NC_000002.12:g.56091833_56091849dup, NC_000002.12:g.56091832_56091849dup, NC_000002.12:g.56091831_56091849dup, NC_000002.12:g.56091827_56091849T[42]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.56091830_56091849dup, NC_000002.12:g.56091827_56091849T[43]GTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.56091829_56091849dup, NC_000002.12:g.56091828_56091849dup, NC_000002.12:g.56091827_56091849dup, NC_000002.12:g.56091827_56091849T[46]GTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.56091849_56091850insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.56091827_56091849T[47]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.56091849_56091850insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.56091827_56091849T[48]GTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.56091849_56091850insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.56091849_56091850insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.56091849_56091850insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.56091849_56091850insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.56091849_56091850insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.56091849_56091850insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.56091849_56091850insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.56091849_56091850insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.56091849_56091850insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.56091849_56091850insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.56091849_56091850insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.56091849_56091850insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.56091849_56091850insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.56091849_56091850insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.56318973_56318984del, NC_000002.11:g.56318974_56318984del, NC_000002.11:g.56318975_56318984del, NC_000002.11:g.56318976_56318984del, NC_000002.11:g.56318977_56318984del, NC_000002.11:g.56318978_56318984del, NC_000002.11:g.56318979_56318984del, NC_000002.11:g.56318980_56318984del, NC_000002.11:g.56318981_56318984del, NC_000002.11:g.56318982_56318984del, NC_000002.11:g.56318983_56318984del, NC_000002.11:g.56318984del, NC_000002.11:g.56318984dup, NC_000002.11:g.56318983_56318984dup, NC_000002.11:g.56318982_56318984dup, NC_000002.11:g.56318962_56318984T[26]AATTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.56318981_56318984dup, NC_000002.11:g.56318980_56318984dup, NC_000002.11:g.56318979_56318984dup, NC_000002.11:g.56318978_56318984dup, NC_000002.11:g.56318977_56318984dup, NC_000002.11:g.56318976_56318984dup, NC_000002.11:g.56318975_56318984dup, NC_000002.11:g.56318962_56318984T[33]AT[2]T[30], NC_000002.11:g.56318962_56318984T[33]ATT[2]T[7]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.56318974_56318984dup, NC_000002.11:g.56318973_56318984dup, NC_000002.11:g.56318962_56318984T[35]ATTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.56318962_56318984T[35]ATTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.56318962_56318984T[35]CTTTTTTTTTTGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.56318972_56318984dup, NC_000002.11:g.56318962_56318984T[36]ATTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.56318962_56318984T[36]ATTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.56318962_56318984T[36]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.56318962_56318984T[36]CATATTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.56318962_56318984T[36]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.56318971_56318984dup, NC_000002.11:g.56318970_56318984dup, NC_000002.11:g.56318962_56318984T[38]ATTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.56318969_56318984dup, NC_000002.11:g.56318968_56318984dup, NC_000002.11:g.56318967_56318984dup, NC_000002.11:g.56318966_56318984dup, NC_000002.11:g.56318962_56318984T[42]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.56318965_56318984dup, NC_000002.11:g.56318962_56318984T[43]GTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.56318964_56318984dup, NC_000002.11:g.56318963_56318984dup, NC_000002.11:g.56318962_56318984dup, NC_000002.11:g.56318962_56318984T[46]GTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.56318984_56318985insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.56318962_56318984T[47]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.56318984_56318985insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.56318962_56318984T[48]GTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.56318984_56318985insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.56318984_56318985insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.56318984_56318985insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.56318984_56318985insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.56318984_56318985insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.56318984_56318985insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.56318984_56318985insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.56318984_56318985insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.56318984_56318985insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.56318984_56318985insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.56318984_56318985insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.56318984_56318985insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.56318984_56318985insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.56318984_56318985insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14912539093.

rs1491253909 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->TTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTT
Chromosome:: no mapping
Canonical SPDI:

Select item 14912454184.

rs1491245418 [Homo sapiens]

Variant type:: INS
Alleles:: ->GTTTTT,GTTTTTTTT,T,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:56091825 (GRCh38)
2:56318961 (GRCh37)
Canonical SPDI:: NC_000002.12:56091825::GTTTTT,NC_000002.12:56091825::GTTTTTTTT,NC_000002.12:56091825::T,NC_000002.12:56091825::TTT,NC_000002.12:56091825::TTTT,NC_000002.12:56091825::TTTTT,NC_000002.12:56091825::TTTTTTT,NC_000002.12:56091825::TTTTTTTT,NC_000002.12:56091825::TTTTTTTTT,NC_000002.12:56091825::TTTTTTTTTT,NC_000002.12:56091825::TTTTTTTTTTTTTTT,NC_000002.12:56091825::TTTTTTTTTTTTTTTT,NC_000002.12:56091825::TTTTTTTTTTTTTTTTTTTTTTTT
Gene:: LINC01813 (Varview), LOC105374690 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTT=0./0 (ALFA)
TTTTTTTT=0.00056/1 (Korea1K)
HGVS:: NC_000002.12:g.56091825_56091826insGTTTTT, NC_000002.12:g.56091825_56091826insGTTTTTTTT, NC_000002.12:g.56091825_56091826insT, NC_000002.12:g.56091825_56091826insTTT, NC_000002.12:g.56091825_56091826insTTTT, NC_000002.12:g.56091825_56091826insTTTTT, NC_000002.12:g.56091825_56091826insTTTTTTT, NC_000002.12:g.56091825_56091826insTTTTTTTT, NC_000002.12:g.56091825_56091826insTTTTTTTTT, NC_000002.12:g.56091825_56091826insTTTTTTTTTT, NC_000002.12:g.56091825_56091826insTTTTTTTTTTTTTTT, NC_000002.12:g.56091825_56091826insTTTTTTTTTTTTTTTT, NC_000002.12:g.56091825_56091826insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.56318960_56318961insGTTTTT, NC_000002.11:g.56318960_56318961insGTTTTTTTT, NC_000002.11:g.56318960_56318961insT, NC_000002.11:g.56318960_56318961insTTT, NC_000002.11:g.56318960_56318961insTTTT, NC_000002.11:g.56318960_56318961insTTTTT, NC_000002.11:g.56318960_56318961insTTTTTTT, NC_000002.11:g.56318960_56318961insTTTTTTTT, NC_000002.11:g.56318960_56318961insTTTTTTTTT, NC_000002.11:g.56318960_56318961insTTTTTTTTTT, NC_000002.11:g.56318960_56318961insTTTTTTTTTTTTTTT, NC_000002.11:g.56318960_56318961insTTTTTTTTTTTTTTTT, NC_000002.11:g.56318960_56318961insTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14912085435.

rs1491208543 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 2:56091825 (GRCh38)
2:56318960 (GRCh37)
Canonical SPDI:: NC_000002.12:56091824:GA:
Gene:: LINC01813 (Varview), LOC105374690 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00032/9 (TOMMO)
HGVS:: NC_000002.12:g.56091825_56091826del, NC_000002.11:g.56318960_56318961del

Select item 14910240906.

rs1491024090 has merged into rs57677807 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:56078783 (GRCh38)
2:56305918 (GRCh37)
Canonical SPDI:: NC_000002.12:56078769:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:56078769:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:56078769:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:56078769:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:56078769:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:56078769:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:56078769:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:56078769:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:56078769:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:56078769:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:56078769:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:56078769:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:56078769:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:56078769:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:56078769:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:56078769:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: LINC01813 (Varview), LOC105374690 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTT=0.0024/14 (ALFA)
HGVS:: NC_000002.12:g.56078783_56078787del, NC_000002.12:g.56078785_56078787del, NC_000002.12:g.56078786_56078787del, NC_000002.12:g.56078787del, NC_000002.12:g.56078787dup, NC_000002.12:g.56078786_56078787dup, NC_000002.12:g.56078785_56078787dup, NC_000002.12:g.56078784_56078787dup, NC_000002.12:g.56078783_56078787dup, NC_000002.12:g.56078782_56078787dup, NC_000002.12:g.56078781_56078787dup, NC_000002.12:g.56078775_56078787dup, NC_000002.12:g.56078774_56078787dup, NC_000002.12:g.56078772_56078787dup, NC_000002.12:g.56078787_56078788insTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.56078787_56078788insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.56305918_56305922del, NC_000002.11:g.56305920_56305922del, NC_000002.11:g.56305921_56305922del, NC_000002.11:g.56305922del, NC_000002.11:g.56305922dup, NC_000002.11:g.56305921_56305922dup, NC_000002.11:g.56305920_56305922dup, NC_000002.11:g.56305919_56305922dup, NC_000002.11:g.56305918_56305922dup, NC_000002.11:g.56305917_56305922dup, NC_000002.11:g.56305916_56305922dup, NC_000002.11:g.56305910_56305922dup, NC_000002.11:g.56305909_56305922dup, NC_000002.11:g.56305907_56305922dup, NC_000002.11:g.56305922_56305923insTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.56305922_56305923insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14908753507.

rs1490875350 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:56074288 (GRCh38)
2:56301423 (GRCh37)
Canonical SPDI:: NC_000002.12:56074287:A:G
Gene:: LINC01813 (Varview), LOC105374690 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.56074288A>G, NC_000002.11:g.56301423A>G

Select item 14907557698.

rs1490755769 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:56084433 (GRCh38)
2:56311568 (GRCh37)
Canonical SPDI:: NC_000002.12:56084432:A:G
Gene:: LINC01813 (Varview), LOC105374690 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.56084433A>G, NC_000002.11:g.56311568A>G

Select item 14907304039.

rs1490730403 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:56085378 (GRCh38)
2:56312513 (GRCh37)
Canonical SPDI:: NC_000002.12:56085377:A:T
Gene:: LINC01813 (Varview), LOC105374690 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.56085378A>T, NC_000002.11:g.56312513A>T

Select item 149056480410.

rs1490564804 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:56085744 (GRCh38)
2:56312879 (GRCh37)
Canonical SPDI:: NC_000002.12:56085743:T:C
Gene:: LINC01813 (Varview), LOC105374690 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.56085744T>C, NC_000002.11:g.56312879T>C

Select item 149036605511.

rs1490366055 has merged into rs796949132 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT [Show Flanks]
Chromosome:: 2:56092187 (GRCh38)
2:56319322 (GRCh37)
Canonical SPDI:: NC_000002.12:56092176:TTTTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:56092176:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:56092176:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:56092176:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:56092176:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT
Gene:: LINC01813 (Varview), LOC105374690 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
T=0.035/21 (NorthernSweden)
HGVS:: NC_000002.12:g.56092187_56092189del, NC_000002.12:g.56092188_56092189del, NC_000002.12:g.56092189del, NC_000002.12:g.56092189dup, NC_000002.12:g.56092188_56092189dup, NC_000002.11:g.56319322_56319324del, NC_000002.11:g.56319323_56319324del, NC_000002.11:g.56319324del, NC_000002.11:g.56319324dup, NC_000002.11:g.56319323_56319324dup

Select item 148987625112.

rs1489876251 [Homo sapiens]

Variant type:: DEL
Alleles:: TTTTTG>- [Show Flanks]
Chromosome:: 2:56091845 (GRCh38)
2:56318980 (GRCh37)
Canonical SPDI:: NC_000002.12:56091844:TTTTTG:
Gene:: LINC01813 (Varview), LOC105374690 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.56091845_56091850del, NC_000002.11:g.56318980_56318985del

Select item 148981993213.

rs1489819932 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:56091082 (GRCh38)
2:56318217 (GRCh37)
Canonical SPDI:: NC_000002.12:56091081:T:C
Gene:: LINC01813 (Varview), LOC105374690 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.56091082T>C, NC_000002.11:g.56318217T>C

Select item 148981679514.

rs1489816795 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:56077118 (GRCh38)
2:56304253 (GRCh37)
Canonical SPDI:: NC_000002.12:56077117:C:T
Gene:: LINC01813 (Varview), LOC105374690 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000013/1 (GnomAD)
T=0.000015/4 (TOPMED)
C=0.0625/1 (SGDP_PRJ)
HGVS:: NC_000002.12:g.56077118C>T, NC_000002.11:g.56304253C>T, NR_135590.1:n.1011G>A

Select item 148970394315.

rs1489703943 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:56089765 (GRCh38)
2:56316900 (GRCh37)
Canonical SPDI:: NC_000002.12:56089764:A:G
Gene:: LINC01813 (Varview), LOC105374690 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.56089765A>G, NC_000002.11:g.56316900A>G

Select item 148969335116.

rs1489693351 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACTC>- [Show Flanks]
Chromosome:: 2:56091953 (GRCh38)
2:56319088 (GRCh37)
Canonical SPDI:: NC_000002.12:56091949:CTCACTC:CTC
Gene:: LINC01813 (Varview), LOC105374690 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTC=0./0 (ALFA)
-=0.000043/6 (GnomAD)
-=0.000091/24 (TOPMED)
HGVS:: NC_000002.12:g.56091953_56091956del, NC_000002.11:g.56319088_56319091del

Select item 148965106317.

rs1489651063 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:56090699 (GRCh38)
2:56317834 (GRCh37)
Canonical SPDI:: NC_000002.12:56090698:T:C
Gene:: LINC01813 (Varview), LOC105374690 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000002.12:g.56090699T>C, NC_000002.11:g.56317834T>C

Select item 148930341318.

rs1489303413 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:56086179 (GRCh38)
2:56313314 (GRCh37)
Canonical SPDI:: NC_000002.12:56086178:T:G
Gene:: LINC01813 (Varview), LOC105374690 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000019/5 (TOPMED)
HGVS:: NC_000002.12:g.56086179T>G, NC_000002.11:g.56313314T>G

Select item 148852003619.

rs1488520036 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:56080288 (GRCh38)
2:56307423 (GRCh37)
Canonical SPDI:: NC_000002.12:56080287:C:A,NC_000002.12:56080287:C:T
Gene:: LINC01813 (Varview), LOC105374690 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.56080288C>A, NC_000002.12:g.56080288C>T, NC_000002.11:g.56307423C>A, NC_000002.11:g.56307423C>T

Select item 148815277720.

rs1488152777 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:56082109 (GRCh38)
2:56309244 (GRCh37)
Canonical SPDI:: NC_000002.12:56082108:A:T
Gene:: LINC01813 (Varview), LOC105374690 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.56082109A>T, NC_000002.11:g.56309244A>T

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