SNP Links for Gene (Select 84101) - SNP

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Select item 14914602061.

rs1491460206 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 12:95522778 (GRCh38)
12:95916554 (GRCh37)
Canonical SPDI:: NC_000012.12:95522777:CA:
Gene:: USP44 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00531/63 (ALFA)
-=0.00067/19 (TOMMO)
HGVS:: NC_000012.12:g.95522778_95522779del, NC_000012.11:g.95916554_95916555del, NG_052622.1:g.33751_33752del

Select item 14913750712.

rs1491375071 has merged into rs760105964 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 12:95543976 (GRCh38)
12:95937752 (GRCh37)
Canonical SPDI:: NC_000012.12:95543966:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000012.12:95543966:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000012.12:95543966:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:95543966:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:95543966:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:95543966:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:95543966:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000012.12:95543966:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000012.12:95543966:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000012.12:95543966:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000012.12:95543966:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000012.12:95543966:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:95543966:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:95543966:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:95543966:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:95543966:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:95543966:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:95543966:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:95543966:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:95543966:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:95543966:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:95543966:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:95543966:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:95543966:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:95543966:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:95543966:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:95543966:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: USP44 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
-=0.2/8 (GENOME_DK)
HGVS:: NC_000012.12:g.95543976_95543989del, NC_000012.12:g.95543978_95543989del, NC_000012.12:g.95543979_95543989del, NC_000012.12:g.95543980_95543989del, NC_000012.12:g.95543981_95543989del, NC_000012.12:g.95543983_95543989del, NC_000012.12:g.95543984_95543989del, NC_000012.12:g.95543985_95543989del, NC_000012.12:g.95543986_95543989del, NC_000012.12:g.95543987_95543989del, NC_000012.12:g.95543988_95543989del, NC_000012.12:g.95543989del, NC_000012.12:g.95543989dup, NC_000012.12:g.95543988_95543989dup, NC_000012.12:g.95543987_95543989dup, NC_000012.12:g.95543986_95543989dup, NC_000012.12:g.95543985_95543989dup, NC_000012.12:g.95543984_95543989dup, NC_000012.12:g.95543983_95543989dup, NC_000012.12:g.95543982_95543989dup, NC_000012.12:g.95543980_95543989dup, NC_000012.12:g.95543979_95543989dup, NC_000012.12:g.95543978_95543989dup, NC_000012.12:g.95543974_95543989dup, NC_000012.12:g.95543972_95543989dup, NC_000012.12:g.95543971_95543989dup, NC_000012.12:g.95543989_95543990insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.95937752_95937765del, NC_000012.11:g.95937754_95937765del, NC_000012.11:g.95937755_95937765del, NC_000012.11:g.95937756_95937765del, NC_000012.11:g.95937757_95937765del, NC_000012.11:g.95937759_95937765del, NC_000012.11:g.95937760_95937765del, NC_000012.11:g.95937761_95937765del, NC_000012.11:g.95937762_95937765del, NC_000012.11:g.95937763_95937765del, NC_000012.11:g.95937764_95937765del, NC_000012.11:g.95937765del, NC_000012.11:g.95937765dup, NC_000012.11:g.95937764_95937765dup, NC_000012.11:g.95937763_95937765dup, NC_000012.11:g.95937762_95937765dup, NC_000012.11:g.95937761_95937765dup, NC_000012.11:g.95937760_95937765dup, NC_000012.11:g.95937759_95937765dup, NC_000012.11:g.95937758_95937765dup, NC_000012.11:g.95937756_95937765dup, NC_000012.11:g.95937755_95937765dup, NC_000012.11:g.95937754_95937765dup, NC_000012.11:g.95937750_95937765dup, NC_000012.11:g.95937748_95937765dup, NC_000012.11:g.95937747_95937765dup, NC_000012.11:g.95937765_95937766insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_052622.1:g.12550_12563del, NG_052622.1:g.12552_12563del, NG_052622.1:g.12553_12563del, NG_052622.1:g.12554_12563del, NG_052622.1:g.12555_12563del, NG_052622.1:g.12557_12563del, NG_052622.1:g.12558_12563del, NG_052622.1:g.12559_12563del, NG_052622.1:g.12560_12563del, NG_052622.1:g.12561_12563del, NG_052622.1:g.12562_12563del, NG_052622.1:g.12563del, NG_052622.1:g.12563dup, NG_052622.1:g.12562_12563dup, NG_052622.1:g.12561_12563dup, NG_052622.1:g.12560_12563dup, NG_052622.1:g.12559_12563dup, NG_052622.1:g.12558_12563dup, NG_052622.1:g.12557_12563dup, NG_052622.1:g.12556_12563dup, NG_052622.1:g.12554_12563dup, NG_052622.1:g.12553_12563dup, NG_052622.1:g.12552_12563dup, NG_052622.1:g.12548_12563dup, NG_052622.1:g.12546_12563dup, NG_052622.1:g.12545_12563dup, NG_052622.1:g.12563_12564insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14913592073.

rs1491359207 has merged into rs570350053 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 12:95550198 (GRCh38)
12:95943974 (GRCh37)
Canonical SPDI:: NC_000012.12:95550183:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:95550183:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:95550183:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000012.12:95550183:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000012.12:95550183:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000012.12:95550183:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000012.12:95550183:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000012.12:95550183:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:95550183:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:95550183:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:95550183:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:95550183:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:95550183:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:95550183:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:95550183:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:95550183:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:95550183:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:95550183:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:95550183:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: USP44 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.4/16 (GENOME_DK)
AA=0.4752/2380 (1000Genomes)
HGVS:: NC_000012.12:g.95550198_95550205del, NC_000012.12:g.95550200_95550205del, NC_000012.12:g.95550201_95550205del, NC_000012.12:g.95550202_95550205del, NC_000012.12:g.95550203_95550205del, NC_000012.12:g.95550204_95550205del, NC_000012.12:g.95550205del, NC_000012.12:g.95550205dup, NC_000012.12:g.95550204_95550205dup, NC_000012.12:g.95550203_95550205dup, NC_000012.12:g.95550202_95550205dup, NC_000012.12:g.95550201_95550205dup, NC_000012.12:g.95550190_95550205dup, NC_000012.12:g.95550185_95550205dup, NC_000012.12:g.95550205_95550206insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.12:g.95550205_95550206insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.12:g.95550205_95550206insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.12:g.95550205_95550206insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.12:g.95550205_95550206insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.95943974_95943981del, NC_000012.11:g.95943976_95943981del, NC_000012.11:g.95943977_95943981del, NC_000012.11:g.95943978_95943981del, NC_000012.11:g.95943979_95943981del, NC_000012.11:g.95943980_95943981del, NC_000012.11:g.95943981del, NC_000012.11:g.95943981dup, NC_000012.11:g.95943980_95943981dup, NC_000012.11:g.95943979_95943981dup, NC_000012.11:g.95943978_95943981dup, NC_000012.11:g.95943977_95943981dup, NC_000012.11:g.95943966_95943981dup, NC_000012.11:g.95943961_95943981dup, NC_000012.11:g.95943981_95943982insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.95943981_95943982insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.95943981_95943982insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.95943981_95943982insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.95943981_95943982insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_052622.1:g.6339_6346del, NG_052622.1:g.6341_6346del, NG_052622.1:g.6342_6346del, NG_052622.1:g.6343_6346del, NG_052622.1:g.6344_6346del, NG_052622.1:g.6345_6346del, NG_052622.1:g.6346del, NG_052622.1:g.6346dup, NG_052622.1:g.6345_6346dup, NG_052622.1:g.6344_6346dup, NG_052622.1:g.6343_6346dup, NG_052622.1:g.6342_6346dup, NG_052622.1:g.6331_6346dup, NG_052622.1:g.6326_6346dup, NG_052622.1:g.6346_6347insTTTTTTTTTTTTTTTTTTTTTTTTT, NG_052622.1:g.6346_6347insTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_052622.1:g.6346_6347insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_052622.1:g.6346_6347insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_052622.1:g.6346_6347insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_047429644.1:c.-1210_-1203del, XM_047429644.1:c.-1208_-1203del, XM_047429644.1:c.-1207_-1203del, XM_047429644.1:c.-1206_-1203del, XM_047429644.1:c.-1205_-1203del, XM_047429644.1:c.-1204_-1203del, XM_047429644.1:c.-1203del, XM_047429644.1:c.-1203dup, XM_047429644.1:c.-1204_-1203dup, XM_047429644.1:c.-1205_-1203dup, XM_047429644.1:c.-1206_-1203dup, XM_047429644.1:c.-1207_-1203dup, XM_047429644.1:c.-1218_-1203dup, XM_047429644.1:c.-1223_-1203dup, XM_047429644.1:c.-1203_-1202insTTTTTTTTTTTTTTTTTTTTTTTTT, XM_047429644.1:c.-1203_-1202insTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_047429644.1:c.-1203_-1202insTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_047429644.1:c.-1203_-1202insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_047429644.1:c.-1203_-1202insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14913480804.

rs1491348080 [Homo sapiens]

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

Select item 14913427995.

rs1491342799 has merged into rs1272256143 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTGTTTTTTTTTTTTTTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT [Show Flanks]
Chromosome:: 12:95532181 (GRCh38)
12:95925957 (GRCh37)
Canonical SPDI:: NC_000012.12:95532167:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:95532167:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:95532167:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000012.12:95532167:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:95532167:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:95532167:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000012.12:95532167:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000012.12:95532167:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTT,NC_000012.12:95532167:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000012.12:95532167:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:95532167:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:95532167:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:95532167:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:95532167:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: USP44 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000012.12:g.95532181_95532185del, NC_000012.12:g.95532182_95532185del, NC_000012.12:g.95532183_95532185del, NC_000012.12:g.95532184_95532185del, NC_000012.12:g.95532185del, NC_000012.12:g.95532185dup, NC_000012.12:g.95532184_95532185dup, NC_000012.12:g.95532168_95532185T[20]GTTTTTTTTTTTTTTTTTTT[1], NC_000012.12:g.95532183_95532185dup, NC_000012.12:g.95532182_95532185dup, NC_000012.12:g.95532181_95532185dup, NC_000012.12:g.95532180_95532185dup, NC_000012.12:g.95532179_95532185dup, NC_000012.12:g.95532178_95532185dup, NC_000012.11:g.95925957_95925961del, NC_000012.11:g.95925958_95925961del, NC_000012.11:g.95925959_95925961del, NC_000012.11:g.95925960_95925961del, NC_000012.11:g.95925961del, NC_000012.11:g.95925961dup, NC_000012.11:g.95925960_95925961dup, NC_000012.11:g.95925944_95925961T[20]GTTTTTTTTTTTTTTTTTTT[1], NC_000012.11:g.95925959_95925961dup, NC_000012.11:g.95925958_95925961dup, NC_000012.11:g.95925957_95925961dup, NC_000012.11:g.95925956_95925961dup, NC_000012.11:g.95925955_95925961dup, NC_000012.11:g.95925954_95925961dup, NG_052622.1:g.24358_24362del, NG_052622.1:g.24359_24362del, NG_052622.1:g.24360_24362del, NG_052622.1:g.24361_24362del, NG_052622.1:g.24362del, NG_052622.1:g.24362dup, NG_052622.1:g.24361_24362dup, NG_052622.1:g.24345_24362A[19]CAAAAAAAAAAAAAAAAAAAA[1], NG_052622.1:g.24360_24362dup, NG_052622.1:g.24359_24362dup, NG_052622.1:g.24358_24362dup, NG_052622.1:g.24357_24362dup, NG_052622.1:g.24356_24362dup, NG_052622.1:g.24355_24362dup

Select item 14913367946.

rs1491336794 has merged into rs56348745 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 12:95520018 (GRCh38)
12:95913794 (GRCh37)
Canonical SPDI:: NC_000012.12:95520007:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000012.12:95520007:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000012.12:95520007:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:95520007:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:95520007:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:95520007:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:95520007:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:95520007:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000012.12:95520007:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000012.12:95520007:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000012.12:95520007:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000012.12:95520007:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000012.12:95520007:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:95520007:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:95520007:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:95520007:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:95520007:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:95520007:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:95520007:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:95520007:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:95520007:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:95520007:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:95520007:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:95520007:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:95520007:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:95520007:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:95520007:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:95520007:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:95520007:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:95520007:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:95520007:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:95520007:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:95520007:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:95520007:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:95520007:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:95520007:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:95520007:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:95520007:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:95520007:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:95520007:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:95520007:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:95520007:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:95520007:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: USP44 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
-=0.2/8 (GENOME_DK)
HGVS:: NC_000012.12:g.95520018_95520036del, NC_000012.12:g.95520019_95520036del, NC_000012.12:g.95520020_95520036del, NC_000012.12:g.95520021_95520036del, NC_000012.12:g.95520022_95520036del, NC_000012.12:g.95520023_95520036del, NC_000012.12:g.95520024_95520036del, NC_000012.12:g.95520025_95520036del, NC_000012.12:g.95520026_95520036del, NC_000012.12:g.95520027_95520036del, NC_000012.12:g.95520028_95520036del, NC_000012.12:g.95520029_95520036del, NC_000012.12:g.95520030_95520036del, NC_000012.12:g.95520031_95520036del, NC_000012.12:g.95520032_95520036del, NC_000012.12:g.95520033_95520036del, NC_000012.12:g.95520034_95520036del, NC_000012.12:g.95520035_95520036del, NC_000012.12:g.95520036del, NC_000012.12:g.95520036dup, NC_000012.12:g.95520035_95520036dup, NC_000012.12:g.95520034_95520036dup, NC_000012.12:g.95520033_95520036dup, NC_000012.12:g.95520032_95520036dup, NC_000012.12:g.95520031_95520036dup, NC_000012.12:g.95520030_95520036dup, NC_000012.12:g.95520029_95520036dup, NC_000012.12:g.95520028_95520036dup, NC_000012.12:g.95520027_95520036dup, NC_000012.12:g.95520026_95520036dup, NC_000012.12:g.95520025_95520036dup, NC_000012.12:g.95520024_95520036dup, NC_000012.12:g.95520023_95520036dup, NC_000012.12:g.95520022_95520036dup, NC_000012.12:g.95520021_95520036dup, NC_000012.12:g.95520020_95520036dup, NC_000012.12:g.95520019_95520036dup, NC_000012.12:g.95520018_95520036dup, NC_000012.12:g.95520017_95520036dup, NC_000012.12:g.95520016_95520036dup, NC_000012.12:g.95520014_95520036dup, NC_000012.12:g.95520013_95520036dup, NC_000012.12:g.95520036_95520037insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.95913794_95913812del, NC_000012.11:g.95913795_95913812del, NC_000012.11:g.95913796_95913812del, NC_000012.11:g.95913797_95913812del, NC_000012.11:g.95913798_95913812del, NC_000012.11:g.95913799_95913812del, NC_000012.11:g.95913800_95913812del, NC_000012.11:g.95913801_95913812del, NC_000012.11:g.95913802_95913812del, NC_000012.11:g.95913803_95913812del, NC_000012.11:g.95913804_95913812del, NC_000012.11:g.95913805_95913812del, NC_000012.11:g.95913806_95913812del, NC_000012.11:g.95913807_95913812del, NC_000012.11:g.95913808_95913812del, NC_000012.11:g.95913809_95913812del, NC_000012.11:g.95913810_95913812del, NC_000012.11:g.95913811_95913812del, NC_000012.11:g.95913812del, NC_000012.11:g.95913812dup, NC_000012.11:g.95913811_95913812dup, NC_000012.11:g.95913810_95913812dup, NC_000012.11:g.95913809_95913812dup, NC_000012.11:g.95913808_95913812dup, NC_000012.11:g.95913807_95913812dup, NC_000012.11:g.95913806_95913812dup, NC_000012.11:g.95913805_95913812dup, NC_000012.11:g.95913804_95913812dup, NC_000012.11:g.95913803_95913812dup, NC_000012.11:g.95913802_95913812dup, NC_000012.11:g.95913801_95913812dup, NC_000012.11:g.95913800_95913812dup, NC_000012.11:g.95913799_95913812dup, NC_000012.11:g.95913798_95913812dup, NC_000012.11:g.95913797_95913812dup, NC_000012.11:g.95913796_95913812dup, NC_000012.11:g.95913795_95913812dup, NC_000012.11:g.95913794_95913812dup, NC_000012.11:g.95913793_95913812dup, NC_000012.11:g.95913792_95913812dup, NC_000012.11:g.95913790_95913812dup, NC_000012.11:g.95913789_95913812dup, NC_000012.11:g.95913812_95913813insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_052622.1:g.36504_36522del, NG_052622.1:g.36505_36522del, NG_052622.1:g.36506_36522del, NG_052622.1:g.36507_36522del, NG_052622.1:g.36508_36522del, NG_052622.1:g.36509_36522del, NG_052622.1:g.36510_36522del, NG_052622.1:g.36511_36522del, NG_052622.1:g.36512_36522del, NG_052622.1:g.36513_36522del, NG_052622.1:g.36514_36522del, NG_052622.1:g.36515_36522del, NG_052622.1:g.36516_36522del, NG_052622.1:g.36517_36522del, NG_052622.1:g.36518_36522del, NG_052622.1:g.36519_36522del, NG_052622.1:g.36520_36522del, NG_052622.1:g.36521_36522del, NG_052622.1:g.36522del, NG_052622.1:g.36522dup, NG_052622.1:g.36521_36522dup, NG_052622.1:g.36520_36522dup, NG_052622.1:g.36519_36522dup, NG_052622.1:g.36518_36522dup, NG_052622.1:g.36517_36522dup, NG_052622.1:g.36516_36522dup, NG_052622.1:g.36515_36522dup, NG_052622.1:g.36514_36522dup, NG_052622.1:g.36513_36522dup, NG_052622.1:g.36512_36522dup, NG_052622.1:g.36511_36522dup, NG_052622.1:g.36510_36522dup, NG_052622.1:g.36509_36522dup, NG_052622.1:g.36508_36522dup, NG_052622.1:g.36507_36522dup, NG_052622.1:g.36506_36522dup, NG_052622.1:g.36505_36522dup, NG_052622.1:g.36504_36522dup, NG_052622.1:g.36503_36522dup, NG_052622.1:g.36502_36522dup, NG_052622.1:g.36500_36522dup, NG_052622.1:g.36499_36522dup, NG_052622.1:g.36522_36523insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14912971097.

rs1491297109 has merged into rs760231106 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTT>-,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 12:95527849 (GRCh38)
12:95921625 (GRCh37)
Canonical SPDI:: NC_000012.12:95527836:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:95527836:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000012.12:95527836:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000012.12:95527836:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000012.12:95527836:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000012.12:95527836:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:95527836:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:95527836:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:95527836:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:95527836:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:95527836:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: USP44 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.00018/2 (TOMMO)
HGVS:: NC_000012.12:g.95527849_95527858del, NC_000012.12:g.95527855_95527858del, NC_000012.12:g.95527856_95527858del, NC_000012.12:g.95527857_95527858del, NC_000012.12:g.95527858del, NC_000012.12:g.95527858dup, NC_000012.12:g.95527857_95527858dup, NC_000012.12:g.95527856_95527858dup, NC_000012.12:g.95527855_95527858dup, NC_000012.12:g.95527854_95527858dup, NC_000012.12:g.95527852_95527858dup, NC_000012.11:g.95921625_95921634del, NC_000012.11:g.95921631_95921634del, NC_000012.11:g.95921632_95921634del, NC_000012.11:g.95921633_95921634del, NC_000012.11:g.95921634del, NC_000012.11:g.95921634dup, NC_000012.11:g.95921633_95921634dup, NC_000012.11:g.95921632_95921634dup, NC_000012.11:g.95921631_95921634dup, NC_000012.11:g.95921630_95921634dup, NC_000012.11:g.95921628_95921634dup, NG_052622.1:g.28684_28693del, NG_052622.1:g.28690_28693del, NG_052622.1:g.28691_28693del, NG_052622.1:g.28692_28693del, NG_052622.1:g.28693del, NG_052622.1:g.28693dup, NG_052622.1:g.28692_28693dup, NG_052622.1:g.28691_28693dup, NG_052622.1:g.28690_28693dup, NG_052622.1:g.28689_28693dup, NG_052622.1:g.28687_28693dup

Select item 14912653918.

rs1491265391 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 12:95541874 (GRCh38)
12:95935650 (GRCh37)
Canonical SPDI:: NC_000012.12:95541873:AT:
Gene:: USP44 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.000061/1 (ALFA)
-=0.000078/10 (GnomAD)
HGVS:: NC_000012.12:g.95541874_95541875del, NC_000012.11:g.95935650_95935651del, NG_052622.1:g.14655_14656del

Select item 14912526299.

rs1491252629 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 12:95516851 (GRCh38)
12:95910627 (GRCh37)
Canonical SPDI:: NC_000012.12:95516849:TAT:T
Gene:: USP44 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000012.12:g.95516851_95516852del, NC_000012.11:g.95910627_95910628del, NG_052622.1:g.39679_39680del, NM_032147.5:c.*1303_*1304del, NM_032147.4:c.*1303_*1304del, NM_032147.3:c.*1303_*1304del, NM_001042403.3:c.*1303_*1304del, NM_001042403.2:c.*1303_*1304del, NR_125360.3:n.3402_3403del, NR_125360.2:n.3444_3445del, NR_125360.1:n.3316_3317del, NR_144946.2:n.3837_3838del, NR_144946.1:n.3879_3880del, NM_001347937.2:c.*1303_*1304del, NM_001347937.1:c.*1303_*1304del, NM_001278393.2:c.*1303_*1304del, NM_001278393.1:c.*1303_*1304del, NR_144948.2:n.3680_3681del, NR_144948.1:n.3722_3723del, NM_001347936.2:c.*1303_*1304del, NM_001347936.1:c.*1303_*1304del, NR_144944.2:n.3593_3594del, NR_144944.1:n.3635_3636del, NR_144945.2:n.3435_3436del, NR_144945.1:n.3477_3478del, NR_144947.2:n.3239_3240del, NR_144947.1:n.3281_3282del, XM_011538805.3:c.*1303_*1304del, XM_011538805.2:c.*1303_*1304del, XM_011538805.1:c.*1303_*1304del, XM_011538804.3:c.*1303_*1304del, XM_011538804.2:c.*1303_*1304del, XM_011538804.1:c.*1303_*1304del, XM_011538800.3:c.*1303_*1304del, XM_011538800.2:c.*1303_*1304del, XM_011538800.1:c.*1303_*1304del, XM_005269173.2:c.*1303_*1304del, XM_005269173.1:c.*1303_*1304del, XM_005269172.2:c.*1303_*1304del, XM_005269172.1:c.*1303_*1304del, XM_011538802.2:c.*1303_*1304del, XM_011538802.1:c.*1303_*1304del, XM_011538801.2:c.*1303_*1304del, XM_011538801.1:c.*1303_*1304del, XM_005269174.2:c.*1303_*1304del, XM_005269174.1:c.*1303_*1304del, XM_047429644.1:c.*1303_*1304del, XM_047429643.1:c.*1303_*1304del, XM_047429645.1:c.*1303_*1304del, XM_011538803.1:c.*1303_*1304del, XM_047429642.1:c.*1303_*1304del

Select item 149123964010.

rs1491239640 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 12:95543966 (GRCh38)
12:95937742 (GRCh37)
Canonical SPDI:: NC_000012.12:95543965:CA:
Gene:: USP44 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000012.12:g.95543966_95543967del, NC_000012.11:g.95937742_95937743del, NG_052622.1:g.12563_12564del

Select item 149119753811.

rs1491197538 has merged into rs36010747 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,AAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 12:95522787 (GRCh38)
12:95916563 (GRCh37)
Canonical SPDI:: NC_000012.12:95522778:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000012.12:95522778:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000012.12:95522778:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:95522778:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:95522778:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:95522778:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000012.12:95522778:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000012.12:95522778:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000012.12:95522778:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000012.12:95522778:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000012.12:95522778:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:95522778:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:95522778:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: USP44 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.20109/775 (ALSPAC)
HGVS:: NC_000012.12:g.95522787_95522800del, NC_000012.12:g.95522790_95522800del, NC_000012.12:g.95522792_95522800del, NC_000012.12:g.95522794_95522800del, NC_000012.12:g.95522795_95522800del, NC_000012.12:g.95522796_95522800del, NC_000012.12:g.95522797_95522800del, NC_000012.12:g.95522798_95522800del, NC_000012.12:g.95522799_95522800del, NC_000012.12:g.95522800del, NC_000012.12:g.95522800dup, NC_000012.12:g.95522799_95522800dup, NC_000012.12:g.95522798_95522800dup, NC_000012.11:g.95916563_95916576del, NC_000012.11:g.95916566_95916576del, NC_000012.11:g.95916568_95916576del, NC_000012.11:g.95916570_95916576del, NC_000012.11:g.95916571_95916576del, NC_000012.11:g.95916572_95916576del, NC_000012.11:g.95916573_95916576del, NC_000012.11:g.95916574_95916576del, NC_000012.11:g.95916575_95916576del, NC_000012.11:g.95916576del, NC_000012.11:g.95916576dup, NC_000012.11:g.95916575_95916576dup, NC_000012.11:g.95916574_95916576dup, NG_052622.1:g.33738_33751del, NG_052622.1:g.33741_33751del, NG_052622.1:g.33743_33751del, NG_052622.1:g.33745_33751del, NG_052622.1:g.33746_33751del, NG_052622.1:g.33747_33751del, NG_052622.1:g.33748_33751del, NG_052622.1:g.33749_33751del, NG_052622.1:g.33750_33751del, NG_052622.1:g.33751del, NG_052622.1:g.33751dup, NG_052622.1:g.33750_33751dup, NG_052622.1:g.33749_33751dup

Select item 149118622212.

rs1491186222 has merged into rs34060895 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 12:95541887 (GRCh38)
12:95935663 (GRCh37)
Canonical SPDI:: NC_000012.12:95541874:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:95541874:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:95541874:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:95541874:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000012.12:95541874:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:95541874:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000012.12:95541874:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000012.12:95541874:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000012.12:95541874:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000012.12:95541874:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:95541874:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:95541874:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:95541874:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:95541874:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:95541874:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:95541874:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:95541874:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:95541874:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:95541874:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: USP44 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000012.12:g.95541887_95541897del, NC_000012.12:g.95541888_95541897del, NC_000012.12:g.95541889_95541897del, NC_000012.12:g.95541890_95541897del, NC_000012.12:g.95541892_95541897del, NC_000012.12:g.95541893_95541897del, NC_000012.12:g.95541894_95541897del, NC_000012.12:g.95541895_95541897del, NC_000012.12:g.95541896_95541897del, NC_000012.12:g.95541897del, NC_000012.12:g.95541897dup, NC_000012.12:g.95541896_95541897dup, NC_000012.12:g.95541895_95541897dup, NC_000012.12:g.95541894_95541897dup, NC_000012.12:g.95541893_95541897dup, NC_000012.12:g.95541892_95541897dup, NC_000012.12:g.95541891_95541897dup, NC_000012.12:g.95541890_95541897dup, NC_000012.12:g.95541897_95541898insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.95935663_95935673del, NC_000012.11:g.95935664_95935673del, NC_000012.11:g.95935665_95935673del, NC_000012.11:g.95935666_95935673del, NC_000012.11:g.95935668_95935673del, NC_000012.11:g.95935669_95935673del, NC_000012.11:g.95935670_95935673del, NC_000012.11:g.95935671_95935673del, NC_000012.11:g.95935672_95935673del, NC_000012.11:g.95935673del, NC_000012.11:g.95935673dup, NC_000012.11:g.95935672_95935673dup, NC_000012.11:g.95935671_95935673dup, NC_000012.11:g.95935670_95935673dup, NC_000012.11:g.95935669_95935673dup, NC_000012.11:g.95935668_95935673dup, NC_000012.11:g.95935667_95935673dup, NC_000012.11:g.95935666_95935673dup, NC_000012.11:g.95935673_95935674insTTTTTTTTTTTTTTTTTTTTTTTT, NG_052622.1:g.14645_14655del, NG_052622.1:g.14646_14655del, NG_052622.1:g.14647_14655del, NG_052622.1:g.14648_14655del, NG_052622.1:g.14650_14655del, NG_052622.1:g.14651_14655del, NG_052622.1:g.14652_14655del, NG_052622.1:g.14653_14655del, NG_052622.1:g.14654_14655del, NG_052622.1:g.14655del, NG_052622.1:g.14655dup, NG_052622.1:g.14654_14655dup, NG_052622.1:g.14653_14655dup, NG_052622.1:g.14652_14655dup, NG_052622.1:g.14651_14655dup, NG_052622.1:g.14650_14655dup, NG_052622.1:g.14649_14655dup, NG_052622.1:g.14648_14655dup, NG_052622.1:g.14655_14656insAAAAAAAAAAAAAAAAAAAAAAAA

Select item 149117236813.

rs1491172368 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 12:95520007 (GRCh38)
12:95913783 (GRCh37)
Canonical SPDI:: NC_000012.12:95520006:CA:
Gene:: USP44 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000012.12:g.95520007_95520008del, NC_000012.11:g.95913783_95913784del, NG_052622.1:g.36522_36523del

Select item 149111804914.

rs1491118049 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 12:95519457 (GRCh38)
12:95913233 (GRCh37)
Canonical SPDI:: NC_000012.12:95519456:TG:
Gene:: USP44 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000012.12:g.95519457_95519458del, NC_000012.11:g.95913233_95913234del, NG_052622.1:g.37072_37073del

Select item 149109210315.

rs1491092103 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 12:95536039 (GRCh38)
12:95929815 (GRCh37)
Canonical SPDI:: NC_000012.12:95536038:CT:
Gene:: USP44 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000047/5 (GnomAD)
HGVS:: NC_000012.12:g.95536039_95536040del, NC_000012.11:g.95929815_95929816del, NG_052622.1:g.20490_20491del

Select item 149107861116.

rs1491078611 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 12:95532185 (GRCh38)
12:95925961 (GRCh37)
Canonical SPDI:: NC_000012.12:95532184:TG:
Gene:: USP44 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.000169/2 (ALFA)
-=0.000031/4 (GnomAD)
HGVS:: NC_000012.12:g.95532185_95532186del, NC_000012.11:g.95925961_95925962del, NG_052622.1:g.24344_24345del

Select item 149101070817.

rs1491010708 has merged into rs61446138 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT [Show Flanks]
Chromosome:: 12:95540357 (GRCh38)
12:95934133 (GRCh37)
Canonical SPDI:: NC_000012.12:95540342:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:95540342:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000012.12:95540342:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:95540342:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:95540342:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000012.12:95540342:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000012.12:95540342:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000012.12:95540342:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:95540342:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:95540342:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: USP44 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.1835/919 (1000Genomes)
T=0.375/3 (KOREAN)
HGVS:: NC_000012.12:g.95540357_95540360del, NC_000012.12:g.95540358_95540360del, NC_000012.12:g.95540359_95540360del, NC_000012.12:g.95540360del, NC_000012.12:g.95540360dup, NC_000012.12:g.95540359_95540360dup, NC_000012.12:g.95540358_95540360dup, NC_000012.12:g.95540357_95540360dup, NC_000012.12:g.95540356_95540360dup, NC_000012.12:g.95540354_95540360dup, NC_000012.11:g.95934133_95934136del, NC_000012.11:g.95934134_95934136del, NC_000012.11:g.95934135_95934136del, NC_000012.11:g.95934136del, NC_000012.11:g.95934136dup, NC_000012.11:g.95934135_95934136dup, NC_000012.11:g.95934134_95934136dup, NC_000012.11:g.95934133_95934136dup, NC_000012.11:g.95934132_95934136dup, NC_000012.11:g.95934130_95934136dup, NG_052622.1:g.16184_16187del, NG_052622.1:g.16185_16187del, NG_052622.1:g.16186_16187del, NG_052622.1:g.16187del, NG_052622.1:g.16187dup, NG_052622.1:g.16186_16187dup, NG_052622.1:g.16185_16187dup, NG_052622.1:g.16184_16187dup, NG_052622.1:g.16183_16187dup, NG_052622.1:g.16181_16187dup

Select item 149097083918.

rs1490970839 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACTC>- [Show Flanks]
Chromosome:: 12:95537350 (GRCh38)
12:95931126 (GRCh37)
Canonical SPDI:: NC_000012.12:95537346:CTCACTC:CTC
Gene:: USP44 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTC=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.95537350_95537353del, NC_000012.11:g.95931126_95931129del, NG_052622.1:g.19180_19183del

Select item 149096947319.

rs1490969473 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:95516108 (GRCh38)
12:95909884 (GRCh37)
Canonical SPDI:: NC_000012.12:95516107:T:G
Gene:: METAP2 (Varview), USP44 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00008/4 (GnomAD)
G=0.00048/9 (TOMMO)
HGVS:: NC_000012.12:g.95516108T>G, NC_000012.11:g.95909884T>G, NG_052622.1:g.40422A>C

Select item 149094790920.

rs1490947909 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:95549864 (GRCh38)
12:95943640 (GRCh37)
Canonical SPDI:: NC_000012.12:95549863:A:G
Gene:: USP44 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,5_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.95549864A>G, NC_000012.11:g.95943640A>G, NG_052622.1:g.6666T>C, XM_047429644.1:c.-883T>C

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