SNP Links for Gene (Select 10057) - SNP

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Select item 14915856541.

rs1491585654 [Homo sapiens]

Variant type:: DEL
Alleles:: GC>- [Show Flanks]
Chromosome:: 3:184007015 (GRCh38)
3:183724803 (GRCh37)
Canonical SPDI:: NC_000003.12:184007014:GC:
Gene:: ABCC5 (Varview), ABCC5-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000003.12:g.184007015_184007016del, NC_000003.11:g.183724803_183724804del, NG_047115.1:g.15995_15996del

Select item 14915781262.

rs1491578126 has merged into rs780123476 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA [Show Flanks]
Chromosome:: 3:183940356 (GRCh38)
3:183658144 (GRCh37)
Canonical SPDI:: NC_000003.12:183940344:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000003.12:183940344:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:183940344:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:183940344:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:183940344:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:183940344:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:183940344:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:183940344:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
Gene:: ABCC5 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000003.12:g.183940356_183940359del, NC_000003.12:g.183940357_183940359del, NC_000003.12:g.183940358_183940359del, NC_000003.12:g.183940359del, NC_000003.12:g.183940359dup, NC_000003.12:g.183940358_183940359dup, NC_000003.12:g.183940357_183940359dup, NC_000003.12:g.183940356_183940359dup, NC_000003.11:g.183658144_183658147del, NC_000003.11:g.183658145_183658147del, NC_000003.11:g.183658146_183658147del, NC_000003.11:g.183658147del, NC_000003.11:g.183658147dup, NC_000003.11:g.183658146_183658147dup, NC_000003.11:g.183658145_183658147dup, NC_000003.11:g.183658144_183658147dup, NG_047115.1:g.82663_82666del, NG_047115.1:g.82664_82666del, NG_047115.1:g.82665_82666del, NG_047115.1:g.82666del, NG_047115.1:g.82666dup, NG_047115.1:g.82665_82666dup, NG_047115.1:g.82664_82666dup, NG_047115.1:g.82663_82666dup

Select item 14915440593.

rs1491544059 [Homo sapiens]

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

Select item 14915359024.

rs1491535902 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 3:184010266 (GRCh38)
3:183728054 (GRCh37)
Canonical SPDI:: NC_000003.12:184010265:CA:
Gene:: ABCC5 (Varview), ABCC5-AS1 (Varview), LOC124909468 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00346/41 (ALFA)
-=0.00139/23 (TOMMO)
HGVS:: NC_000003.12:g.184010266_184010267del, NC_000003.11:g.183728054_183728055del, NG_047115.1:g.12744_12745del

Select item 14914891575.

rs1491489157 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GT [Show Flanks]
Chromosome:: 3:183926143 (GRCh38)
3:183643932 (GRCh37)
Canonical SPDI:: NC_000003.12:183926143:T:TGT
Gene:: ABCC5 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TGT=0./0 (ALFA)
TG=0.00008/2 (GnomAD)
HGVS:: NC_000003.12:g.183926144_183926145insGT, NC_000003.11:g.183643932_183643933insGT, NG_047115.1:g.96867_96868insCA

Select item 14914735336.

rs1491473533 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 3:183940462 (GRCh38)
3:183658250 (GRCh37)
Canonical SPDI:: NC_000003.12:183940461:GA:
Gene:: ABCC5 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00086/21 (TOMMO)
-=0.00196/3 (Korea1K)
HGVS:: NC_000003.12:g.183940462_183940463del, NC_000003.11:g.183658250_183658251del, NG_047115.1:g.82548_82549del

Select item 14914511407.

rs1491451140 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTC [Show Flanks]
Chromosome:: 3:184007015 (GRCh38)
3:183724804 (GRCh37)
Canonical SPDI:: NC_000003.12:184007015:C:CATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTC
Gene:: ABCC5 (Varview), ABCC5-AS1 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000003.12:g.184007016_184007017insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTC, NC_000003.11:g.183724804_183724805insATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTC, NG_047115.1:g.15995_15996insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATG

Select item 14913930308.

rs1491393030 has merged into rs200040197 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 3:183924021 (GRCh38)
3:183641809 (GRCh37)
Canonical SPDI:: NC_000003.12:183924010:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000003.12:183924010:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:183924010:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:183924010:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:183924010:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:183924010:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:183924010:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:183924010:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:183924010:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:183924010:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:183924010:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000003.12:183924010:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:183924010:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:183924010:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:183924010:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:183924010:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:183924010:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:183924010:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:183924010:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:183924010:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:183924010:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:183924010:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:183924010:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:183924010:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:183924010:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:183924010:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:183924010:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:183924010:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:183924010:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:183924010:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:183924010:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:183924010:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:183924010:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ABCC5 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
TTTTTTTT=0./0 (GENOME_DK)
TTTTTTTTTT=0.1116/559 (1000Genomes)
HGVS:: NC_000003.12:g.183924021_183924033del, NC_000003.12:g.183924022_183924033del, NC_000003.12:g.183924023_183924033del, NC_000003.12:g.183924024_183924033del, NC_000003.12:g.183924025_183924033del, NC_000003.12:g.183924026_183924033del, NC_000003.12:g.183924027_183924033del, NC_000003.12:g.183924028_183924033del, NC_000003.12:g.183924029_183924033del, NC_000003.12:g.183924030_183924033del, NC_000003.12:g.183924032_183924033del, NC_000003.12:g.183924033del, NC_000003.12:g.183924033dup, NC_000003.12:g.183924032_183924033dup, NC_000003.12:g.183924031_183924033dup, NC_000003.12:g.183924030_183924033dup, NC_000003.12:g.183924029_183924033dup, NC_000003.12:g.183924028_183924033dup, NC_000003.12:g.183924027_183924033dup, NC_000003.12:g.183924026_183924033dup, NC_000003.12:g.183924025_183924033dup, NC_000003.12:g.183924024_183924033dup, NC_000003.12:g.183924023_183924033dup, NC_000003.12:g.183924022_183924033dup, NC_000003.12:g.183924021_183924033dup, NC_000003.12:g.183924020_183924033dup, NC_000003.12:g.183924019_183924033dup, NC_000003.12:g.183924018_183924033dup, NC_000003.12:g.183924017_183924033dup, NC_000003.12:g.183924016_183924033dup, NC_000003.12:g.183924015_183924033dup, NC_000003.12:g.183924014_183924033dup, NC_000003.12:g.183924033_183924034insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.183641809_183641821del, NC_000003.11:g.183641810_183641821del, NC_000003.11:g.183641811_183641821del, NC_000003.11:g.183641812_183641821del, NC_000003.11:g.183641813_183641821del, NC_000003.11:g.183641814_183641821del, NC_000003.11:g.183641815_183641821del, NC_000003.11:g.183641816_183641821del, NC_000003.11:g.183641817_183641821del, NC_000003.11:g.183641818_183641821del, NC_000003.11:g.183641820_183641821del, NC_000003.11:g.183641821del, NC_000003.11:g.183641821dup, NC_000003.11:g.183641820_183641821dup, NC_000003.11:g.183641819_183641821dup, NC_000003.11:g.183641818_183641821dup, NC_000003.11:g.183641817_183641821dup, NC_000003.11:g.183641816_183641821dup, NC_000003.11:g.183641815_183641821dup, NC_000003.11:g.183641814_183641821dup, NC_000003.11:g.183641813_183641821dup, NC_000003.11:g.183641812_183641821dup, NC_000003.11:g.183641811_183641821dup, NC_000003.11:g.183641810_183641821dup, NC_000003.11:g.183641809_183641821dup, NC_000003.11:g.183641808_183641821dup, NC_000003.11:g.183641807_183641821dup, NC_000003.11:g.183641806_183641821dup, NC_000003.11:g.183641805_183641821dup, NC_000003.11:g.183641804_183641821dup, NC_000003.11:g.183641803_183641821dup, NC_000003.11:g.183641802_183641821dup, NC_000003.11:g.183641821_183641822insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_047115.1:g.98988_99000del, NG_047115.1:g.98989_99000del, NG_047115.1:g.98990_99000del, NG_047115.1:g.98991_99000del, NG_047115.1:g.98992_99000del, NG_047115.1:g.98993_99000del, NG_047115.1:g.98994_99000del, NG_047115.1:g.98995_99000del, NG_047115.1:g.98996_99000del, NG_047115.1:g.98997_99000del, NG_047115.1:g.98999_99000del, NG_047115.1:g.99000del, NG_047115.1:g.99000dup, NG_047115.1:g.98999_99000dup, NG_047115.1:g.98998_99000dup, NG_047115.1:g.98997_99000dup, NG_047115.1:g.98996_99000dup, NG_047115.1:g.98995_99000dup, NG_047115.1:g.98994_99000dup, NG_047115.1:g.98993_99000dup, NG_047115.1:g.98992_99000dup, NG_047115.1:g.98991_99000dup, NG_047115.1:g.98990_99000dup, NG_047115.1:g.98989_99000dup, NG_047115.1:g.98988_99000dup, NG_047115.1:g.98987_99000dup, NG_047115.1:g.98986_99000dup, NG_047115.1:g.98985_99000dup, NG_047115.1:g.98984_99000dup, NG_047115.1:g.98983_99000dup, NG_047115.1:g.98982_99000dup, NG_047115.1:g.98981_99000dup, NG_047115.1:g.99000_99001insAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14913470309.

rs1491347030 has merged into rs10541470 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAATTTTAGGAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAATTTAGGAAACATTAAAGAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 3:184010277 (GRCh38)
3:183728065 (GRCh37)
Canonical SPDI:: NC_000003.12:184010266:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000003.12:184010266:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:184010266:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:184010266:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:184010266:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:184010266:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:184010266:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:184010266:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:184010266:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:184010266:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:184010266:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:184010266:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:184010266:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:184010266:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:184010266:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:184010266:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:184010266:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:184010266:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:184010266:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:184010266:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:184010266:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:184010266:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAATTTTAGGAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:184010266:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAATTTAGGAAACATTAAAGAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ABCC5 (Varview), ABCC5-AS1 (Varview), LOC124909468 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000003.12:g.184010277_184010289del, NC_000003.12:g.184010279_184010289del, NC_000003.12:g.184010280_184010289del, NC_000003.12:g.184010282_184010289del, NC_000003.12:g.184010283_184010289del, NC_000003.12:g.184010284_184010289del, NC_000003.12:g.184010285_184010289del, NC_000003.12:g.184010286_184010289del, NC_000003.12:g.184010287_184010289del, NC_000003.12:g.184010288_184010289del, NC_000003.12:g.184010289del, NC_000003.12:g.184010289dup, NC_000003.12:g.184010288_184010289dup, NC_000003.12:g.184010287_184010289dup, NC_000003.12:g.184010286_184010289dup, NC_000003.12:g.184010285_184010289dup, NC_000003.12:g.184010284_184010289dup, NC_000003.12:g.184010283_184010289dup, NC_000003.12:g.184010289_184010290insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.184010289_184010290insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.184010267_184010289A[24]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.12:g.184010267_184010289A[24]T[4]AGGAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.12:g.184010267_184010289A[23]TTTAGGAAACATTAAAGAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.11:g.183728065_183728077del, NC_000003.11:g.183728067_183728077del, NC_000003.11:g.183728068_183728077del, NC_000003.11:g.183728070_183728077del, NC_000003.11:g.183728071_183728077del, NC_000003.11:g.183728072_183728077del, NC_000003.11:g.183728073_183728077del, NC_000003.11:g.183728074_183728077del, NC_000003.11:g.183728075_183728077del, NC_000003.11:g.183728076_183728077del, NC_000003.11:g.183728077del, NC_000003.11:g.183728077dup, NC_000003.11:g.183728076_183728077dup, NC_000003.11:g.183728075_183728077dup, NC_000003.11:g.183728074_183728077dup, NC_000003.11:g.183728073_183728077dup, NC_000003.11:g.183728072_183728077dup, NC_000003.11:g.183728071_183728077dup, NC_000003.11:g.183728077_183728078insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.183728077_183728078insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.183728055_183728077A[24]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.11:g.183728055_183728077A[24]T[4]AGGAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.11:g.183728055_183728077A[23]TTTAGGAAACATTAAAGAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_047115.1:g.12732_12744del, NG_047115.1:g.12734_12744del, NG_047115.1:g.12735_12744del, NG_047115.1:g.12737_12744del, NG_047115.1:g.12738_12744del, NG_047115.1:g.12739_12744del, NG_047115.1:g.12740_12744del, NG_047115.1:g.12741_12744del, NG_047115.1:g.12742_12744del, NG_047115.1:g.12743_12744del, NG_047115.1:g.12744del, NG_047115.1:g.12744dup, NG_047115.1:g.12743_12744dup, NG_047115.1:g.12742_12744dup, NG_047115.1:g.12741_12744dup, NG_047115.1:g.12740_12744dup, NG_047115.1:g.12739_12744dup, NG_047115.1:g.12738_12744dup, NG_047115.1:g.12744_12745insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_047115.1:g.12744_12745insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_047115.1:g.12722_12744T[29]ATTTTTTTTTTTTTTTTTTTTTTTT[1], NG_047115.1:g.12722_12744T[25]CCTAAAATTTTTTTTTTTTTTTTTTTTTTTT[1], NG_047115.1:g.12722_12744T[25]CTTTAATGTTTCCTAAATTTTTTTTTTTTTTTTTTTTTTT[1]

Select item 149131747310.

rs1491317473 has merged into rs545167336 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT [Show Flanks]
Chromosome:: 3:183926154 (GRCh38)
3:183643942 (GRCh37)
Canonical SPDI:: NC_000003.12:183926142:TTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:183926142:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:183926142:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:183926142:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:183926142:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:183926142:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:183926142:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000003.12:183926142:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT
Gene:: ABCC5 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
TT=0.366/1833 (1000Genomes)
HGVS:: NC_000003.12:g.183926154_183926158del, NC_000003.12:g.183926157_183926158del, NC_000003.12:g.183926158del, NC_000003.12:g.183926158dup, NC_000003.12:g.183926157_183926158dup, NC_000003.12:g.183926156_183926158dup, NC_000003.12:g.183926155_183926158dup, NC_000003.12:g.183926154_183926158dup, NC_000003.11:g.183643942_183643946del, NC_000003.11:g.183643945_183643946del, NC_000003.11:g.183643946del, NC_000003.11:g.183643946dup, NC_000003.11:g.183643945_183643946dup, NC_000003.11:g.183643944_183643946dup, NC_000003.11:g.183643943_183643946dup, NC_000003.11:g.183643942_183643946dup, NG_047115.1:g.96864_96868del, NG_047115.1:g.96867_96868del, NG_047115.1:g.96868del, NG_047115.1:g.96868dup, NG_047115.1:g.96867_96868dup, NG_047115.1:g.96866_96868dup, NG_047115.1:g.96865_96868dup, NG_047115.1:g.96864_96868dup

Select item 149126069111.

rs1491260691 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 3:183936512 (GRCh38)
3:183654300 (GRCh37)
Canonical SPDI:: NC_000003.12:183936511:AT:
Gene:: ABCC5 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000071/1 (TOMMO)
HGVS:: NC_000003.12:g.183936512_183936513del, NC_000003.11:g.183654300_183654301del, NG_047115.1:g.86498_86499del

Select item 149124513312.

rs1491245133 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 3:183980719 (GRCh38)
3:183698508 (GRCh37)
Canonical SPDI:: NC_000003.12:183980719::C
Gene:: ABCC5 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000037/4 (GnomAD)
HGVS:: NC_000003.12:g.183980719_183980720insC, NC_000003.11:g.183698507_183698508insC, NG_047115.1:g.42291_42292insG

Select item 149123844613.

rs1491238446 has merged into rs537025178 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 3:183940476 (GRCh38)
3:183658264 (GRCh37)
Canonical SPDI:: NC_000003.12:183940462:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:183940462:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:183940462:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:183940462:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:183940462:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:183940462:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:183940462:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:183940462:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:183940462:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:183940462:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:183940462:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:183940462:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:183940462:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:183940462:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:183940462:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:183940462:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:183940462:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:183940462:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:183940462:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:183940462:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:183940462:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:183940462:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:183940462:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:183940462:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:183940462:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ABCC5 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000003.12:g.183940476_183940488del, NC_000003.12:g.183940477_183940488del, NC_000003.12:g.183940478_183940488del, NC_000003.12:g.183940479_183940488del, NC_000003.12:g.183940480_183940488del, NC_000003.12:g.183940481_183940488del, NC_000003.12:g.183940482_183940488del, NC_000003.12:g.183940483_183940488del, NC_000003.12:g.183940484_183940488del, NC_000003.12:g.183940485_183940488del, NC_000003.12:g.183940486_183940488del, NC_000003.12:g.183940487_183940488del, NC_000003.12:g.183940488del, NC_000003.12:g.183940488dup, NC_000003.12:g.183940487_183940488dup, NC_000003.12:g.183940486_183940488dup, NC_000003.12:g.183940485_183940488dup, NC_000003.12:g.183940484_183940488dup, NC_000003.12:g.183940483_183940488dup, NC_000003.12:g.183940482_183940488dup, NC_000003.12:g.183940481_183940488dup, NC_000003.12:g.183940480_183940488dup, NC_000003.12:g.183940479_183940488dup, NC_000003.12:g.183940478_183940488dup, NC_000003.12:g.183940477_183940488dup, NC_000003.11:g.183658264_183658276del, NC_000003.11:g.183658265_183658276del, NC_000003.11:g.183658266_183658276del, NC_000003.11:g.183658267_183658276del, NC_000003.11:g.183658268_183658276del, NC_000003.11:g.183658269_183658276del, NC_000003.11:g.183658270_183658276del, NC_000003.11:g.183658271_183658276del, NC_000003.11:g.183658272_183658276del, NC_000003.11:g.183658273_183658276del, NC_000003.11:g.183658274_183658276del, NC_000003.11:g.183658275_183658276del, NC_000003.11:g.183658276del, NC_000003.11:g.183658276dup, NC_000003.11:g.183658275_183658276dup, NC_000003.11:g.183658274_183658276dup, NC_000003.11:g.183658273_183658276dup, NC_000003.11:g.183658272_183658276dup, NC_000003.11:g.183658271_183658276dup, NC_000003.11:g.183658270_183658276dup, NC_000003.11:g.183658269_183658276dup, NC_000003.11:g.183658268_183658276dup, NC_000003.11:g.183658267_183658276dup, NC_000003.11:g.183658266_183658276dup, NC_000003.11:g.183658265_183658276dup, NG_047115.1:g.82536_82548del, NG_047115.1:g.82537_82548del, NG_047115.1:g.82538_82548del, NG_047115.1:g.82539_82548del, NG_047115.1:g.82540_82548del, NG_047115.1:g.82541_82548del, NG_047115.1:g.82542_82548del, NG_047115.1:g.82543_82548del, NG_047115.1:g.82544_82548del, NG_047115.1:g.82545_82548del, NG_047115.1:g.82546_82548del, NG_047115.1:g.82547_82548del, NG_047115.1:g.82548del, NG_047115.1:g.82548dup, NG_047115.1:g.82547_82548dup, NG_047115.1:g.82546_82548dup, NG_047115.1:g.82545_82548dup, NG_047115.1:g.82544_82548dup, NG_047115.1:g.82543_82548dup, NG_047115.1:g.82542_82548dup, NG_047115.1:g.82541_82548dup, NG_047115.1:g.82540_82548dup, NG_047115.1:g.82539_82548dup, NG_047115.1:g.82538_82548dup, NG_047115.1:g.82537_82548dup

Select item 149121373814.

rs1491213738 [Homo sapiens]

Variant type:: DEL
Alleles:: GC>- [Show Flanks]
Chromosome:: 3:183924009 (GRCh38)
3:183641797 (GRCh37)
Canonical SPDI:: NC_000003.12:183924008:GC:
Gene:: ABCC5 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.0004/2 (ALFA)
HGVS:: NC_000003.12:g.183924009_183924010del, NC_000003.11:g.183641797_183641798del, NG_047115.1:g.99001_99002del

Select item 149119572315.

rs1491195723 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 3:183924009 (GRCh38)
3:183641798 (GRCh37)
Canonical SPDI:: NC_000003.12:183924009:C:CC
Gene:: ABCC5 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
HGVS:: NC_000003.12:g.183924010dup, NC_000003.11:g.183641798dup, NG_047115.1:g.99001dup

Select item 149117447916.

rs1491174479 has merged into rs55882083 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTT>-,TT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 3:184010806 (GRCh38)
3:183728594 (GRCh37)
Canonical SPDI:: NC_000003.12:184010798:TTTTTTTTTTTTTTTT:TTTTTTT,NC_000003.12:184010798:TTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000003.12:184010798:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:184010798:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:184010798:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:184010798:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:184010798:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:184010798:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:184010798:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:184010798:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000003.12:184010798:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000003.12:184010798:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ABCC5 (Varview), ABCC5-AS1 (Varview), LOC124909468 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTT=0./0 (ALFA)
HGVS:: NC_000003.12:g.184010806_184010814del, NC_000003.12:g.184010808_184010814del, NC_000003.12:g.184010811_184010814del, NC_000003.12:g.184010812_184010814del, NC_000003.12:g.184010813_184010814del, NC_000003.12:g.184010814del, NC_000003.12:g.184010814dup, NC_000003.12:g.184010813_184010814dup, NC_000003.12:g.184010812_184010814dup, NC_000003.12:g.184010811_184010814dup, NC_000003.12:g.184010810_184010814dup, NC_000003.12:g.184010803_184010814dup, NC_000003.11:g.183728594_183728602del, NC_000003.11:g.183728596_183728602del, NC_000003.11:g.183728599_183728602del, NC_000003.11:g.183728600_183728602del, NC_000003.11:g.183728601_183728602del, NC_000003.11:g.183728602del, NC_000003.11:g.183728602dup, NC_000003.11:g.183728601_183728602dup, NC_000003.11:g.183728600_183728602dup, NC_000003.11:g.183728599_183728602dup, NC_000003.11:g.183728598_183728602dup, NC_000003.11:g.183728591_183728602dup, NG_047115.1:g.12204_12212del, NG_047115.1:g.12206_12212del, NG_047115.1:g.12209_12212del, NG_047115.1:g.12210_12212del, NG_047115.1:g.12211_12212del, NG_047115.1:g.12212del, NG_047115.1:g.12212dup, NG_047115.1:g.12211_12212dup, NG_047115.1:g.12210_12212dup, NG_047115.1:g.12209_12212dup, NG_047115.1:g.12208_12212dup, NG_047115.1:g.12201_12212dup, NG_083211.1:g.501_509del, NG_083211.1:g.503_509del, NG_083211.1:g.506_509del, NG_083211.1:g.507_509del, NG_083211.1:g.508_509del, NG_083211.1:g.509del, NG_083211.1:g.509dup, NG_083211.1:g.508_509dup, NG_083211.1:g.507_509dup, NG_083211.1:g.506_509dup, NG_083211.1:g.505_509dup, NG_083211.1:g.498_509dup

Select item 149113410117.

rs1491134101 has merged into rs34892836 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 3:183989168 (GRCh38)
3:183706956 (GRCh37)
Canonical SPDI:: NC_000003.12:183989157:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000003.12:183989157:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000003.12:183989157:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:183989157:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:183989157:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:183989157:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:183989157:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:183989157:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:183989157:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:183989157:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:183989157:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:183989157:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:183989157:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:183989157:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:183989157:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:183989157:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:183989157:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:183989157:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:183989157:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:183989157:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ABCC5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
AAAAA=0.000004/1 (TOPMED)
-=0.409744/2052 (1000Genomes)
HGVS:: NC_000003.12:g.183989168_183989182del, NC_000003.12:g.183989169_183989182del, NC_000003.12:g.183989170_183989182del, NC_000003.12:g.183989171_183989182del, NC_000003.12:g.183989172_183989182del, NC_000003.12:g.183989174_183989182del, NC_000003.12:g.183989175_183989182del, NC_000003.12:g.183989176_183989182del, NC_000003.12:g.183989177_183989182del, NC_000003.12:g.183989178_183989182del, NC_000003.12:g.183989179_183989182del, NC_000003.12:g.183989180_183989182del, NC_000003.12:g.183989181_183989182del, NC_000003.12:g.183989182del, NC_000003.12:g.183989182dup, NC_000003.12:g.183989181_183989182dup, NC_000003.12:g.183989180_183989182dup, NC_000003.12:g.183989179_183989182dup, NC_000003.12:g.183989178_183989182dup, NC_000003.12:g.183989177_183989182dup, NC_000003.11:g.183706956_183706970del, NC_000003.11:g.183706957_183706970del, NC_000003.11:g.183706958_183706970del, NC_000003.11:g.183706959_183706970del, NC_000003.11:g.183706960_183706970del, NC_000003.11:g.183706962_183706970del, NC_000003.11:g.183706963_183706970del, NC_000003.11:g.183706964_183706970del, NC_000003.11:g.183706965_183706970del, NC_000003.11:g.183706966_183706970del, NC_000003.11:g.183706967_183706970del, NC_000003.11:g.183706968_183706970del, NC_000003.11:g.183706969_183706970del, NC_000003.11:g.183706970del, NC_000003.11:g.183706970dup, NC_000003.11:g.183706969_183706970dup, NC_000003.11:g.183706968_183706970dup, NC_000003.11:g.183706967_183706970dup, NC_000003.11:g.183706966_183706970dup, NC_000003.11:g.183706965_183706970dup, NG_047115.1:g.33839_33853del, NG_047115.1:g.33840_33853del, NG_047115.1:g.33841_33853del, NG_047115.1:g.33842_33853del, NG_047115.1:g.33843_33853del, NG_047115.1:g.33845_33853del, NG_047115.1:g.33846_33853del, NG_047115.1:g.33847_33853del, NG_047115.1:g.33848_33853del, NG_047115.1:g.33849_33853del, NG_047115.1:g.33850_33853del, NG_047115.1:g.33851_33853del, NG_047115.1:g.33852_33853del, NG_047115.1:g.33853del, NG_047115.1:g.33853dup, NG_047115.1:g.33852_33853dup, NG_047115.1:g.33851_33853dup, NG_047115.1:g.33850_33853dup, NG_047115.1:g.33849_33853dup, NG_047115.1:g.33848_33853dup

Select item 149112361418.

rs1491123614 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 3:183989157 (GRCh38)
3:183706945 (GRCh37)
Canonical SPDI:: NC_000003.12:183989156:CA:
Gene:: ABCC5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00071/20 (TOMMO)
HGVS:: NC_000003.12:g.183989157_183989158del, NC_000003.11:g.183706945_183706946del, NG_047115.1:g.33853_33854del

Select item 149109108419.

rs1491091084 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 3:184004506 (GRCh38)
3:183722294 (GRCh37)
Canonical SPDI:: NC_000003.12:184004505:CA:
Gene:: ABCC5 (Varview), ABCC5-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: -=0.00025/3 (ALFA)
HGVS:: NC_000003.12:g.184004506_184004507del, NC_000003.11:g.183722294_183722295del, NG_047115.1:g.18504_18505del

Select item 149108349720.

rs1491083497 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 3:184007040 (GRCh38)
3:183724828 (GRCh37)
Canonical SPDI:: NC_000003.12:184007039:TG:
Gene:: ABCC5 (Varview), ABCC5-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00017/2 (ALFA)
HGVS:: NC_000003.12:g.184007040_184007041del, NC_000003.11:g.183724828_183724829del, NG_047115.1:g.15970_15971del

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