SNP Links for Gene (Select 79608) - SNP

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Select item 14915624951.

rs1491562495 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 11:8122864 (GRCh38)
11:8144411 (GRCh37)
Canonical SPDI:: NC_000011.10:8122863:CA:
Gene:: RIC3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00118/14 (ALFA)
HGVS:: NC_000011.10:g.8122864_8122865del, NC_000011.9:g.8144411_8144412del, NG_030416.2:g.51179_51180del

Select item 14915456622.

rs1491545662 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 11:8109090 (GRCh38)
11:8130638 (GRCh37)
Canonical SPDI:: NC_000011.10:8109090:A:AA
Gene:: RIC3 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000546/1 (Korea1K)
HGVS:: NC_000011.10:g.8109091dup, NC_000011.9:g.8130638dup, NG_030416.2:g.64953dup, NM_024557.6:c.*1607dup, NM_024557.5:c.*1607dup, NM_024557.4:c.*1607dup, NM_001206671.4:c.*1607dup, NM_001206671.3:c.*1607dup, NM_001206671.2:c.*1607dup, NM_001206672.4:c.*1607dup, NM_001206672.3:c.*1607dup, NM_001206672.2:c.*1607dup, NM_001135109.4:c.*1607dup, NM_001135109.3:c.*1607dup, NM_001135109.2:c.*1607dup, NM_001346693.2:c.*1607dup, NM_001346693.1:c.*1607dup, NM_001346690.2:c.*1607dup, NM_001346690.1:c.*1607dup, NM_001346694.2:c.*1607dup, NM_001346694.1:c.*1607dup, NM_001346692.2:c.*1607dup, NM_001346692.1:c.*1607dup, NR_144484.2:n.2656dup, NR_144484.1:n.2725dup, NM_001346691.2:c.*2037dup, NM_001346691.1:c.*2037dup, NR_144497.2:n.2353dup, NR_144497.1:n.2422dup, XM_006718317.5:c.*1356dup, XM_006718317.4:c.*1356dup, XM_006718317.3:c.*1356dup, XM_006718317.2:c.*1356dup, XM_006718317.1:c.*1356dup, XM_006718318.5:c.*1356dup, XM_006718318.4:c.*1356dup, XM_006718318.3:c.*1356dup, XM_006718318.2:c.*1356dup, XM_006718318.1:c.*1356dup, NR_045405.1:n.2820dup, XM_047427585.1:c.*1356dup

Select item 14915366743.

rs1491536674 has merged into rs55826618 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 11:8122873 (GRCh38)
11:8144420 (GRCh37)
Canonical SPDI:: NC_000011.10:8122864:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000011.10:8122864:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000011.10:8122864:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000011.10:8122864:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000011.10:8122864:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000011.10:8122864:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:8122864:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:8122864:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:8122864:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000011.10:8122864:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000011.10:8122864:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000011.10:8122864:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000011.10:8122864:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000011.10:8122864:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:8122864:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:8122864:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:8122864:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:8122864:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:8122864:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:8122864:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:8122864:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:8122864:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:8122864:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:8122864:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:8122864:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:8122864:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:8122864:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:8122864:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: RIC3 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
HGVS:: NC_000011.10:g.8122873_8122886del, NC_000011.10:g.8122874_8122886del, NC_000011.10:g.8122875_8122886del, NC_000011.10:g.8122876_8122886del, NC_000011.10:g.8122877_8122886del, NC_000011.10:g.8122879_8122886del, NC_000011.10:g.8122880_8122886del, NC_000011.10:g.8122881_8122886del, NC_000011.10:g.8122882_8122886del, NC_000011.10:g.8122883_8122886del, NC_000011.10:g.8122884_8122886del, NC_000011.10:g.8122885_8122886del, NC_000011.10:g.8122886del, NC_000011.10:g.8122886dup, NC_000011.10:g.8122885_8122886dup, NC_000011.10:g.8122884_8122886dup, NC_000011.10:g.8122883_8122886dup, NC_000011.10:g.8122881_8122886dup, NC_000011.10:g.8122880_8122886dup, NC_000011.10:g.8122879_8122886dup, NC_000011.10:g.8122878_8122886dup, NC_000011.10:g.8122877_8122886dup, NC_000011.10:g.8122876_8122886dup, NC_000011.10:g.8122874_8122886dup, NC_000011.10:g.8122886_8122887insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.10:g.8122886_8122887insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.10:g.8122886_8122887insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.10:g.8122865_8122886A[42]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000011.9:g.8144420_8144433del, NC_000011.9:g.8144421_8144433del, NC_000011.9:g.8144422_8144433del, NC_000011.9:g.8144423_8144433del, NC_000011.9:g.8144424_8144433del, NC_000011.9:g.8144426_8144433del, NC_000011.9:g.8144427_8144433del, NC_000011.9:g.8144428_8144433del, NC_000011.9:g.8144429_8144433del, NC_000011.9:g.8144430_8144433del, NC_000011.9:g.8144431_8144433del, NC_000011.9:g.8144432_8144433del, NC_000011.9:g.8144433del, NC_000011.9:g.8144433dup, NC_000011.9:g.8144432_8144433dup, NC_000011.9:g.8144431_8144433dup, NC_000011.9:g.8144430_8144433dup, NC_000011.9:g.8144428_8144433dup, NC_000011.9:g.8144427_8144433dup, NC_000011.9:g.8144426_8144433dup, NC_000011.9:g.8144425_8144433dup, NC_000011.9:g.8144424_8144433dup, NC_000011.9:g.8144423_8144433dup, NC_000011.9:g.8144421_8144433dup, NC_000011.9:g.8144433_8144434insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.9:g.8144433_8144434insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.9:g.8144433_8144434insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.9:g.8144412_8144433A[42]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_030416.2:g.51166_51179del, NG_030416.2:g.51167_51179del, NG_030416.2:g.51168_51179del, NG_030416.2:g.51169_51179del, NG_030416.2:g.51170_51179del, NG_030416.2:g.51172_51179del, NG_030416.2:g.51173_51179del, NG_030416.2:g.51174_51179del, NG_030416.2:g.51175_51179del, NG_030416.2:g.51176_51179del, NG_030416.2:g.51177_51179del, NG_030416.2:g.51178_51179del, NG_030416.2:g.51179del, NG_030416.2:g.51179dup, NG_030416.2:g.51178_51179dup, NG_030416.2:g.51177_51179dup, NG_030416.2:g.51176_51179dup, NG_030416.2:g.51174_51179dup, NG_030416.2:g.51173_51179dup, NG_030416.2:g.51172_51179dup, NG_030416.2:g.51171_51179dup, NG_030416.2:g.51170_51179dup, NG_030416.2:g.51169_51179dup, NG_030416.2:g.51167_51179dup, NG_030416.2:g.51179_51180insTTTTTTTTTTTTTTTTTTTTTTTT, NG_030416.2:g.51179_51180insTTTTTTTTTTTTTTTTTTTTTTTTT, NG_030416.2:g.51179_51180insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_030416.2:g.51158_51179T[35]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1]

Select item 14914748304.

rs1491474830 has merged into rs1166439987 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT [Show Flanks]
Chromosome:: 11:8104939 (GRCh38)
11:8126486 (GRCh37)
Canonical SPDI:: NC_000011.10:8104930:TTTTTTTTTTTTTTT:TTTTTTTT,NC_000011.10:8104930:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000011.10:8104930:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000011.10:8104930:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000011.10:8104930:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000011.10:8104930:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000011.10:8104930:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000011.10:8104930:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT
Gene:: TUB (Varview), RIC3 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
-=0.00512/3 (NorthernSweden)
HGVS:: NC_000011.10:g.8104939_8104945del, NC_000011.10:g.8104942_8104945del, NC_000011.10:g.8104943_8104945del, NC_000011.10:g.8104944_8104945del, NC_000011.10:g.8104945del, NC_000011.10:g.8104945dup, NC_000011.10:g.8104944_8104945dup, NC_000011.10:g.8104943_8104945dup, NC_000011.9:g.8126486_8126492del, NC_000011.9:g.8126489_8126492del, NC_000011.9:g.8126490_8126492del, NC_000011.9:g.8126491_8126492del, NC_000011.9:g.8126492del, NC_000011.9:g.8126492dup, NC_000011.9:g.8126491_8126492dup, NC_000011.9:g.8126490_8126492dup, NG_030416.2:g.69107_69113del, NG_030416.2:g.69110_69113del, NG_030416.2:g.69111_69113del, NG_030416.2:g.69112_69113del, NG_030416.2:g.69113del, NG_030416.2:g.69113dup, NG_030416.2:g.69112_69113dup, NG_030416.2:g.69111_69113dup, NG_029912.1:g.71307_71313del, NG_029912.1:g.71310_71313del, NG_029912.1:g.71311_71313del, NG_029912.1:g.71312_71313del, NG_029912.1:g.71313del, NG_029912.1:g.71313dup, NG_029912.1:g.71312_71313dup, NG_029912.1:g.71311_71313dup, NM_003320.5:c.*3320_*3326del, NM_003320.5:c.*3323_*3326del, NM_003320.5:c.*3324_*3326del, NM_003320.5:c.*3325_*3326del, NM_003320.5:c.*3326del, NM_003320.5:c.*3326dup, NM_003320.5:c.*3325_*3326dup, NM_003320.5:c.*3324_*3326dup, NM_003320.4:c.*3320_*3326del, NM_003320.4:c.*3323_*3326del, NM_003320.4:c.*3324_*3326del, NM_003320.4:c.*3325_*3326del, NM_003320.4:c.*3326del, NM_003320.4:c.*3326dup, NM_003320.4:c.*3325_*3326dup, NM_003320.4:c.*3324_*3326dup, NM_177972.3:c.*3320_*3326del, NM_177972.3:c.*3323_*3326del, NM_177972.3:c.*3324_*3326del, NM_177972.3:c.*3325_*3326del, NM_177972.3:c.*3326del, NM_177972.3:c.*3326dup, NM_177972.3:c.*3325_*3326dup, NM_177972.3:c.*3324_*3326dup, NM_177972.2:c.*3320_*3326del, NM_177972.2:c.*3323_*3326del, NM_177972.2:c.*3324_*3326del, NM_177972.2:c.*3325_*3326del, NM_177972.2:c.*3326del, NM_177972.2:c.*3326dup, NM_177972.2:c.*3325_*3326dup, NM_177972.2:c.*3324_*3326dup, XM_005253109.4:c.*3320_*3326del, XM_005253109.4:c.*3323_*3326del, XM_005253109.4:c.*3324_*3326del, XM_005253109.4:c.*3325_*3326del, XM_005253109.4:c.*3326del, XM_005253109.4:c.*3326dup, XM_005253109.4:c.*3325_*3326dup, XM_005253109.4:c.*3324_*3326dup, XM_005253109.3:c.*3320_*3326del, XM_005253109.3:c.*3323_*3326del, XM_005253109.3:c.*3324_*3326del, XM_005253109.3:c.*3325_*3326del, XM_005253109.3:c.*3326del, XM_005253109.3:c.*3326dup, XM_005253109.3:c.*3325_*3326dup, XM_005253109.3:c.*3324_*3326dup, XM_005253109.2:c.*3320_*3326del, XM_005253109.2:c.*3323_*3326del, XM_005253109.2:c.*3324_*3326del, XM_005253109.2:c.*3325_*3326del, XM_005253109.2:c.*3326del, XM_005253109.2:c.*3326dup, XM_005253109.2:c.*3325_*3326dup, XM_005253109.2:c.*3324_*3326dup, XM_005253109.1:c.*3320_*3326del, XM_005253109.1:c.*3323_*3326del, XM_005253109.1:c.*3324_*3326del, XM_005253109.1:c.*3325_*3326del, XM_005253109.1:c.*3326del, XM_005253109.1:c.*3326dup, XM_005253109.1:c.*3325_*3326dup, XM_005253109.1:c.*3324_*3326dup, XM_011520344.3:c.*3320_*3326del, XM_011520344.3:c.*3323_*3326del, XM_011520344.3:c.*3324_*3326del, XM_011520344.3:c.*3325_*3326del, XM_011520344.3:c.*3326del, XM_011520344.3:c.*3326dup, XM_011520344.3:c.*3325_*3326dup, XM_011520344.3:c.*3324_*3326dup, XM_011520344.2:c.*3320_*3326del, XM_011520344.2:c.*3323_*3326del, XM_011520344.2:c.*3324_*3326del, XM_011520344.2:c.*3325_*3326del, XM_011520344.2:c.*3326del, XM_011520344.2:c.*3326dup, XM_011520344.2:c.*3325_*3326dup, XM_011520344.2:c.*3324_*3326dup, XM_011520344.1:c.*3320_*3326del, XM_011520344.1:c.*3323_*3326del, XM_011520344.1:c.*3324_*3326del, XM_011520344.1:c.*3325_*3326del, XM_011520344.1:c.*3326del, XM_011520344.1:c.*3326dup, XM_011520344.1:c.*3325_*3326dup, XM_011520344.1:c.*3324_*3326dup, XM_047427516.1:c.*3320_*3326del, XM_047427516.1:c.*3323_*3326del, XM_047427516.1:c.*3324_*3326del, XM_047427516.1:c.*3325_*3326del, XM_047427516.1:c.*3326del, XM_047427516.1:c.*3326dup, XM_047427516.1:c.*3325_*3326dup, XM_047427516.1:c.*3324_*3326dup, XM_047427517.1:c.*3320_*3326del, XM_047427517.1:c.*3323_*3326del, XM_047427517.1:c.*3324_*3326del, XM_047427517.1:c.*3325_*3326del, XM_047427517.1:c.*3326del, XM_047427517.1:c.*3326dup, XM_047427517.1:c.*3325_*3326dup, XM_047427517.1:c.*3324_*3326dup, XM_047427513.1:c.*3320_*3326del, XM_047427513.1:c.*3323_*3326del, XM_047427513.1:c.*3324_*3326del, XM_047427513.1:c.*3325_*3326del, XM_047427513.1:c.*3326del, XM_047427513.1:c.*3326dup, XM_047427513.1:c.*3325_*3326dup, XM_047427513.1:c.*3324_*3326dup, XM_047427514.1:c.*1422_*1428del, XM_047427514.1:c.*1425_*1428del, XM_047427514.1:c.*1426_*1428del, XM_047427514.1:c.*1427_*1428del, XM_047427514.1:c.*1428del, XM_047427514.1:c.*1428dup, XM_047427514.1:c.*1427_*1428dup, XM_047427514.1:c.*1426_*1428dup, XM_047427512.1:c.*1422_*1428del, XM_047427512.1:c.*1425_*1428del, XM_047427512.1:c.*1426_*1428del, XM_047427512.1:c.*1427_*1428del, XM_047427512.1:c.*1428del, XM_047427512.1:c.*1428dup, XM_047427512.1:c.*1427_*1428dup, XM_047427512.1:c.*1426_*1428dup, XM_047427515.1:c.*1422_*1428del, XM_047427515.1:c.*1425_*1428del, XM_047427515.1:c.*1426_*1428del, XM_047427515.1:c.*1427_*1428del, XM_047427515.1:c.*1428del, XM_047427515.1:c.*1428dup, XM_047427515.1:c.*1427_*1428dup, XM_047427515.1:c.*1426_*1428dup

Select item 14913650685.

rs1491365068 has merged into rs1300162251 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCCC>-,CC,CCCCCC [Show Flanks]
Chromosome:: 11:8163070 (GRCh38)
11:8184617 (GRCh37)
Canonical SPDI:: NC_000011.10:8163067:CCCCCC:CC,NC_000011.10:8163067:CCCCCC:CCCC,NC_000011.10:8163067:CCCCCC:CCCCCCCC
Gene:: RIC3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
-=0.00657/110 (TOMMO)
-=0.02347/43 (Korea1K)
-=0.02667/16 (NorthernSweden)
-=0.075/3 (GENOME_DK)
HGVS:: NC_000011.10:g.8163070_8163073del, NC_000011.10:g.8163072_8163073del, NC_000011.10:g.8163072_8163073dup, NC_000011.9:g.8184617_8184620del, NC_000011.9:g.8184619_8184620del, NC_000011.9:g.8184619_8184620dup, NG_030416.2:g.10973_10976del, NG_030416.2:g.10975_10976del, NG_030416.2:g.10975_10976dup

Select item 14913432976.

rs1491343297 [Homo sapiens]

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

Select item 14912915807.

rs1491291580 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 11:8164781 (GRCh38)
11:8186328 (GRCh37)
Canonical SPDI:: NC_000011.10:8164780:CA:
Gene:: RIC3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000011.10:g.8164781_8164782del, NC_000011.9:g.8186328_8186329del, NG_030416.2:g.9262_9263del

Select item 14912279238.

rs1491227923 has merged into rs59248468 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACACACACACACACACA>-,CA,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACACA [Show Flanks]
Chromosome:: 11:8163032 (GRCh38)
11:8184579 (GRCh37)
Canonical SPDI:: NC_000011.10:8163018:ACACACACACACACACACACACACACACACACA:ACACACACACACA,NC_000011.10:8163018:ACACACACACACACACACACACACACACACACA:ACACACACACACACA,NC_000011.10:8163018:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACA,NC_000011.10:8163018:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACA,NC_000011.10:8163018:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000011.10:8163018:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000011.10:8163018:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000011.10:8163018:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000011.10:8163018:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA,NC_000011.10:8163018:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA,NC_000011.10:8163018:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACA,NC_000011.10:8163018:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACA,NC_000011.10:8163018:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACA,NC_000011.10:8163018:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACA,NC_000011.10:8163018:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACA,NC_000011.10:8163018:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACA,NC_000011.10:8163018:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000011.10:8163018:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000011.10:8163018:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000011.10:8163018:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000011.10:8163018:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000011.10:8163018:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000011.10:8163018:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA
Gene:: RIC3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACACA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.8163020CA[6], NC_000011.10:g.8163020CA[7], NC_000011.10:g.8163020CA[9], NC_000011.10:g.8163020CA[10], NC_000011.10:g.8163020CA[11], NC_000011.10:g.8163020CA[12], NC_000011.10:g.8163020CA[13], NC_000011.10:g.8163020CA[14], NC_000011.10:g.8163020CA[15], NC_000011.10:g.8163020CA[17], NC_000011.10:g.8163020CA[18], NC_000011.10:g.8163020CA[19], NC_000011.10:g.8163020CA[20], NC_000011.10:g.8163020CA[21], NC_000011.10:g.8163020CA[22], NC_000011.10:g.8163020CA[23], NC_000011.10:g.8163020CA[24], NC_000011.10:g.8163020CA[25], NC_000011.10:g.8163020CA[26], NC_000011.10:g.8163020CA[27], NC_000011.10:g.8163020CA[28], NC_000011.10:g.8163020CA[29], NC_000011.10:g.8163020CA[31], NC_000011.9:g.8184567CA[6], NC_000011.9:g.8184567CA[7], NC_000011.9:g.8184567CA[9], NC_000011.9:g.8184567CA[10], NC_000011.9:g.8184567CA[11], NC_000011.9:g.8184567CA[12], NC_000011.9:g.8184567CA[13], NC_000011.9:g.8184567CA[14], NC_000011.9:g.8184567CA[15], NC_000011.9:g.8184567CA[17], NC_000011.9:g.8184567CA[18], NC_000011.9:g.8184567CA[19], NC_000011.9:g.8184567CA[20], NC_000011.9:g.8184567CA[21], NC_000011.9:g.8184567CA[22], NC_000011.9:g.8184567CA[23], NC_000011.9:g.8184567CA[24], NC_000011.9:g.8184567CA[25], NC_000011.9:g.8184567CA[26], NC_000011.9:g.8184567CA[27], NC_000011.9:g.8184567CA[28], NC_000011.9:g.8184567CA[29], NC_000011.9:g.8184567CA[31], NG_030416.2:g.10994GT[6], NG_030416.2:g.10994GT[7], NG_030416.2:g.10994GT[9], NG_030416.2:g.10994GT[10], NG_030416.2:g.10994GT[11], NG_030416.2:g.10994GT[12], NG_030416.2:g.10994GT[13], NG_030416.2:g.10994GT[14], NG_030416.2:g.10994GT[15], NG_030416.2:g.10994GT[17], NG_030416.2:g.10994GT[18], NG_030416.2:g.10994GT[19], NG_030416.2:g.10994GT[20], NG_030416.2:g.10994GT[21], NG_030416.2:g.10994GT[22], NG_030416.2:g.10994GT[23], NG_030416.2:g.10994GT[24], NG_030416.2:g.10994GT[25], NG_030416.2:g.10994GT[26], NG_030416.2:g.10994GT[27], NG_030416.2:g.10994GT[28], NG_030416.2:g.10994GT[29], NG_030416.2:g.10994GT[31]

Select item 14912234809.

rs1491223480 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CT [Show Flanks]
Chromosome:: 11:8162630 (GRCh38)
11:8184178 (GRCh37)
Canonical SPDI:: NC_000011.10:8162630:T:TCT
Gene:: RIC3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCT=0./0 (ALFA)
TC=0.00034/18 (GnomAD)
HGVS:: NC_000011.10:g.8162631_8162632insCT, NC_000011.9:g.8184178_8184179insCT, NG_030416.2:g.11413_11414insGA

Select item 149115701110.

rs1491157011 [Homo sapiens]

Variant type:: INS
Alleles:: ->CCAG [Show Flanks]
Chromosome:: 11:8102309 (GRCh38)
11:8123857 (GRCh37)
Canonical SPDI:: NC_000011.10:8102309::CCAG
Gene:: TUB (Varview), RIC3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCAG=0./0 (ALFA)
CCAG=0.000023/6 (TOPMED)
CCAG=0.000029/4 (GnomAD)
HGVS:: NC_000011.10:g.8102309_8102310insCCAG, NC_000011.9:g.8123856_8123857insCCAG, NG_030416.2:g.71734_71735insCTGG, NG_029912.1:g.68677_68678insCCAG, NM_003320.5:c.*690_*691insCCAG, NM_003320.4:c.*690_*691insCCAG, NM_177972.3:c.*690_*691insCCAG, NM_177972.2:c.*690_*691insCCAG, XM_005253109.4:c.*690_*691insCCAG, XM_005253109.3:c.*690_*691insCCAG, XM_005253109.2:c.*690_*691insCCAG, XM_005253109.1:c.*690_*691insCCAG, XM_011520344.3:c.*690_*691insCCAG, XM_011520344.2:c.*690_*691insCCAG, XM_011520344.1:c.*690_*691insCCAG, XM_047427516.1:c.*690_*691insCCAG, XM_047427517.1:c.*690_*691insCCAG, XM_047427513.1:c.*690_*691insCCAG

Select item 149112658911.

rs1491126589 has merged into rs199958835 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 11:8164791 (GRCh38)
11:8186338 (GRCh37)
Canonical SPDI:: NC_000011.10:8164781:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000011.10:8164781:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000011.10:8164781:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000011.10:8164781:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000011.10:8164781:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:8164781:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:8164781:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:8164781:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000011.10:8164781:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000011.10:8164781:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000011.10:8164781:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000011.10:8164781:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000011.10:8164781:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:8164781:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:8164781:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:8164781:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:8164781:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:8164781:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:8164781:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:8164781:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:8164781:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:8164781:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:8164781:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:8164781:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: RIC3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
AAAAAAAAAAA=0.05/2 (GENOME_DK)
AAAAAAAAAAAA=0.0679/340 (1000Genomes)
HGVS:: NC_000011.10:g.8164791_8164807del, NC_000011.10:g.8164793_8164807del, NC_000011.10:g.8164794_8164807del, NC_000011.10:g.8164795_8164807del, NC_000011.10:g.8164796_8164807del, NC_000011.10:g.8164797_8164807del, NC_000011.10:g.8164798_8164807del, NC_000011.10:g.8164799_8164807del, NC_000011.10:g.8164800_8164807del, NC_000011.10:g.8164801_8164807del, NC_000011.10:g.8164802_8164807del, NC_000011.10:g.8164803_8164807del, NC_000011.10:g.8164804_8164807del, NC_000011.10:g.8164805_8164807del, NC_000011.10:g.8164806_8164807del, NC_000011.10:g.8164807del, NC_000011.10:g.8164807dup, NC_000011.10:g.8164806_8164807dup, NC_000011.10:g.8164805_8164807dup, NC_000011.10:g.8164802_8164807dup, NC_000011.10:g.8164799_8164807dup, NC_000011.10:g.8164798_8164807dup, NC_000011.10:g.8164797_8164807dup, NC_000011.10:g.8164807_8164808insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.9:g.8186338_8186354del, NC_000011.9:g.8186340_8186354del, NC_000011.9:g.8186341_8186354del, NC_000011.9:g.8186342_8186354del, NC_000011.9:g.8186343_8186354del, NC_000011.9:g.8186344_8186354del, NC_000011.9:g.8186345_8186354del, NC_000011.9:g.8186346_8186354del, NC_000011.9:g.8186347_8186354del, NC_000011.9:g.8186348_8186354del, NC_000011.9:g.8186349_8186354del, NC_000011.9:g.8186350_8186354del, NC_000011.9:g.8186351_8186354del, NC_000011.9:g.8186352_8186354del, NC_000011.9:g.8186353_8186354del, NC_000011.9:g.8186354del, NC_000011.9:g.8186354dup, NC_000011.9:g.8186353_8186354dup, NC_000011.9:g.8186352_8186354dup, NC_000011.9:g.8186349_8186354dup, NC_000011.9:g.8186346_8186354dup, NC_000011.9:g.8186345_8186354dup, NC_000011.9:g.8186344_8186354dup, NC_000011.9:g.8186354_8186355insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_030416.2:g.9246_9262del, NG_030416.2:g.9248_9262del, NG_030416.2:g.9249_9262del, NG_030416.2:g.9250_9262del, NG_030416.2:g.9251_9262del, NG_030416.2:g.9252_9262del, NG_030416.2:g.9253_9262del, NG_030416.2:g.9254_9262del, NG_030416.2:g.9255_9262del, NG_030416.2:g.9256_9262del, NG_030416.2:g.9257_9262del, NG_030416.2:g.9258_9262del, NG_030416.2:g.9259_9262del, NG_030416.2:g.9260_9262del, NG_030416.2:g.9261_9262del, NG_030416.2:g.9262del, NG_030416.2:g.9262dup, NG_030416.2:g.9261_9262dup, NG_030416.2:g.9260_9262dup, NG_030416.2:g.9257_9262dup, NG_030416.2:g.9254_9262dup, NG_030416.2:g.9253_9262dup, NG_030416.2:g.9252_9262dup, NG_030416.2:g.9262_9263insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149107835512.

rs1491078355 has merged into rs61400460 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 11:8155232 (GRCh38)
11:8176779 (GRCh37)
Canonical SPDI:: NC_000011.10:8155218:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000011.10:8155218:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:8155218:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:8155218:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:8155218:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000011.10:8155218:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000011.10:8155218:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000011.10:8155218:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000011.10:8155218:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000011.10:8155218:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:8155218:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:8155218:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:8155218:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:8155218:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: RIC3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
-=0.135/676 (1000Genomes)
HGVS:: NC_000011.10:g.8155232_8155240del, NC_000011.10:g.8155233_8155240del, NC_000011.10:g.8155234_8155240del, NC_000011.10:g.8155235_8155240del, NC_000011.10:g.8155236_8155240del, NC_000011.10:g.8155237_8155240del, NC_000011.10:g.8155238_8155240del, NC_000011.10:g.8155239_8155240del, NC_000011.10:g.8155240del, NC_000011.10:g.8155240dup, NC_000011.10:g.8155239_8155240dup, NC_000011.10:g.8155238_8155240dup, NC_000011.10:g.8155237_8155240dup, NC_000011.10:g.8155236_8155240dup, NC_000011.9:g.8176779_8176787del, NC_000011.9:g.8176780_8176787del, NC_000011.9:g.8176781_8176787del, NC_000011.9:g.8176782_8176787del, NC_000011.9:g.8176783_8176787del, NC_000011.9:g.8176784_8176787del, NC_000011.9:g.8176785_8176787del, NC_000011.9:g.8176786_8176787del, NC_000011.9:g.8176787del, NC_000011.9:g.8176787dup, NC_000011.9:g.8176786_8176787dup, NC_000011.9:g.8176785_8176787dup, NC_000011.9:g.8176784_8176787dup, NC_000011.9:g.8176783_8176787dup, NG_030416.2:g.18817_18825del, NG_030416.2:g.18818_18825del, NG_030416.2:g.18819_18825del, NG_030416.2:g.18820_18825del, NG_030416.2:g.18821_18825del, NG_030416.2:g.18822_18825del, NG_030416.2:g.18823_18825del, NG_030416.2:g.18824_18825del, NG_030416.2:g.18825del, NG_030416.2:g.18825dup, NG_030416.2:g.18824_18825dup, NG_030416.2:g.18823_18825dup, NG_030416.2:g.18822_18825dup, NG_030416.2:g.18821_18825dup

Select item 149097041913.

rs1490970419 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:8119986 (GRCh38)
11:8141533 (GRCh37)
Canonical SPDI:: NC_000011.10:8119985:T:C
Gene:: RIC3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.8119986T>C, NC_000011.9:g.8141533T>C, NG_030416.2:g.54058A>G

Select item 149090978814.

rs1490909788 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:8160760 (GRCh38)
11:8182307 (GRCh37)
Canonical SPDI:: NC_000011.10:8160759:A:C
Gene:: RIC3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.8160760A>C, NC_000011.9:g.8182307A>C, NG_030416.2:g.13284T>G

Select item 149081887415.

rs1490818874 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 11:8128688 (GRCh38)
11:8150235 (GRCh37)
Canonical SPDI:: NC_000011.10:8128687:A:
Gene:: RIC3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.8128688del, NC_000011.9:g.8150235del, NG_030416.2:g.45356del

Select item 149079946216.

rs1490799462 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 11:8162201 (GRCh38)
11:8183748 (GRCh37)
Canonical SPDI:: NC_000011.10:8162200:G:A,NC_000011.10:8162200:G:C
Gene:: RIC3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
A=0.000342/1 (KOREAN)
HGVS:: NC_000011.10:g.8162201G>A, NC_000011.10:g.8162201G>C, NC_000011.9:g.8183748G>A, NC_000011.9:g.8183748G>C, NG_030416.2:g.11843C>T, NG_030416.2:g.11843C>G

Select item 149077351417.

rs1490773514 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:8159945 (GRCh38)
11:8181492 (GRCh37)
Canonical SPDI:: NC_000011.10:8159944:G:C
Gene:: RIC3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.8159945G>C, NC_000011.9:g.8181492G>C, NG_030416.2:g.14099C>G

Select item 149077107618.

rs1490771076 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:8134715 (GRCh38)
11:8156262 (GRCh37)
Canonical SPDI:: NC_000011.10:8134714:G:A
Gene:: RIC3 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.8134715G>A, NC_000011.9:g.8156262G>A, NG_030416.2:g.39329C>T, XM_006718321.5:c.*1072C>T, XM_006718321.3:c.*1072C>T

Select item 149072834019.

rs1490728340 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:8141326 (GRCh38)
11:8162873 (GRCh37)
Canonical SPDI:: NC_000011.10:8141325:T:C
Gene:: RIC3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.8141326T>C, NC_000011.9:g.8162873T>C, NG_030416.2:g.32718A>G

Select item 149068484320.

rs1490684843 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:8104818 (GRCh38)
11:8126365 (GRCh37)
Canonical SPDI:: NC_000011.10:8104817:C:T
Gene:: TUB (Varview), RIC3 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000021/3 (GnomAD)
T=0.000071/1 (TOMMO)
HGVS:: NC_000011.10:g.8104818C>T, NC_000011.9:g.8126365C>T, NG_030416.2:g.69226G>A, NG_029912.1:g.71186C>T, NM_003320.5:c.*3199C>T, NM_003320.4:c.*3199C>T, NM_177972.3:c.*3199C>T, NM_177972.2:c.*3199C>T, XM_005253109.4:c.*3199C>T, XM_005253109.3:c.*3199C>T, XM_005253109.2:c.*3199C>T, XM_005253109.1:c.*3199C>T, XM_011520344.3:c.*3199C>T, XM_011520344.2:c.*3199C>T, XM_011520344.1:c.*3199C>T, XM_047427516.1:c.*3199C>T, XM_047427517.1:c.*3199C>T, XM_047427513.1:c.*3199C>T, XM_047427514.1:c.*1301C>T, XM_047427512.1:c.*1301C>T, XM_047427515.1:c.*1301C>T

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