SNP Links for Gene (Select 9420) - SNP

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Select item 14915800921.

rs1491580092 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 8:64697044 (GRCh38)
8:65609601 (GRCh37)
Canonical SPDI:: NC_000008.11:64697043:AG:
Gene:: CYP7B1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000084/1 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000021/3 (GnomAD)
HGVS:: NC_000008.11:g.64697044_64697045del, NC_000008.10:g.65609601_65609602del, NG_008338.2:g.106747_106748del, XM_017014002.2:c.-4840_-4839del, XM_017014002.1:c.-4840_-4839del

Select item 14915341992.

rs1491534199 has merged into rs35575527 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 8:64695615 (GRCh38)
8:65608172 (GRCh37)
Canonical SPDI:: NC_000008.11:64695603:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000008.11:64695603:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000008.11:64695603:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000008.11:64695603:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000008.11:64695603:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000008.11:64695603:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000008.11:64695603:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000008.11:64695603:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000008.11:64695603:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000008.11:64695603:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000008.11:64695603:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000008.11:64695603:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:64695603:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:64695603:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:64695603:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:64695603:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:64695603:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:64695603:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:64695603:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: CYP7B1 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
TTTTTTTTT=0.3606/1806 (1000Genomes)
HGVS:: NC_000008.11:g.64695615_64695629del, NC_000008.11:g.64695616_64695629del, NC_000008.11:g.64695617_64695629del, NC_000008.11:g.64695618_64695629del, NC_000008.11:g.64695619_64695629del, NC_000008.11:g.64695620_64695629del, NC_000008.11:g.64695621_64695629del, NC_000008.11:g.64695622_64695629del, NC_000008.11:g.64695623_64695629del, NC_000008.11:g.64695624_64695629del, NC_000008.11:g.64695625_64695629del, NC_000008.11:g.64695626_64695629del, NC_000008.11:g.64695627_64695629del, NC_000008.11:g.64695628_64695629del, NC_000008.11:g.64695629del, NC_000008.11:g.64695629dup, NC_000008.11:g.64695628_64695629dup, NC_000008.11:g.64695627_64695629dup, NC_000008.11:g.64695626_64695629dup, NC_000008.10:g.65608172_65608186del, NC_000008.10:g.65608173_65608186del, NC_000008.10:g.65608174_65608186del, NC_000008.10:g.65608175_65608186del, NC_000008.10:g.65608176_65608186del, NC_000008.10:g.65608177_65608186del, NC_000008.10:g.65608178_65608186del, NC_000008.10:g.65608179_65608186del, NC_000008.10:g.65608180_65608186del, NC_000008.10:g.65608181_65608186del, NC_000008.10:g.65608182_65608186del, NC_000008.10:g.65608183_65608186del, NC_000008.10:g.65608184_65608186del, NC_000008.10:g.65608185_65608186del, NC_000008.10:g.65608186del, NC_000008.10:g.65608186dup, NC_000008.10:g.65608185_65608186dup, NC_000008.10:g.65608184_65608186dup, NC_000008.10:g.65608183_65608186dup, NG_008338.2:g.108174_108188del, NG_008338.2:g.108175_108188del, NG_008338.2:g.108176_108188del, NG_008338.2:g.108177_108188del, NG_008338.2:g.108178_108188del, NG_008338.2:g.108179_108188del, NG_008338.2:g.108180_108188del, NG_008338.2:g.108181_108188del, NG_008338.2:g.108182_108188del, NG_008338.2:g.108183_108188del, NG_008338.2:g.108184_108188del, NG_008338.2:g.108185_108188del, NG_008338.2:g.108186_108188del, NG_008338.2:g.108187_108188del, NG_008338.2:g.108188del, NG_008338.2:g.108188dup, NG_008338.2:g.108187_108188dup, NG_008338.2:g.108186_108188dup, NG_008338.2:g.108185_108188dup, XM_017014002.2:c.-3413_-3399del, XM_017014002.2:c.-3412_-3399del, XM_017014002.2:c.-3411_-3399del, XM_017014002.2:c.-3410_-3399del, XM_017014002.2:c.-3409_-3399del, XM_017014002.2:c.-3408_-3399del, XM_017014002.2:c.-3407_-3399del, XM_017014002.2:c.-3406_-3399del, XM_017014002.2:c.-3405_-3399del, XM_017014002.2:c.-3404_-3399del, XM_017014002.2:c.-3403_-3399del, XM_017014002.2:c.-3402_-3399del, XM_017014002.2:c.-3401_-3399del, XM_017014002.2:c.-3400_-3399del, XM_017014002.2:c.-3399del, XM_017014002.2:c.-3399dup, XM_017014002.2:c.-3400_-3399dup, XM_017014002.2:c.-3401_-3399dup, XM_017014002.2:c.-3402_-3399dup, XM_017014002.1:c.-3413_-3399del, XM_017014002.1:c.-3412_-3399del, XM_017014002.1:c.-3411_-3399del, XM_017014002.1:c.-3410_-3399del, XM_017014002.1:c.-3409_-3399del, XM_017014002.1:c.-3408_-3399del, XM_017014002.1:c.-3407_-3399del, XM_017014002.1:c.-3406_-3399del, XM_017014002.1:c.-3405_-3399del, XM_017014002.1:c.-3404_-3399del, XM_017014002.1:c.-3403_-3399del, XM_017014002.1:c.-3402_-3399del, XM_017014002.1:c.-3401_-3399del, XM_017014002.1:c.-3400_-3399del, XM_017014002.1:c.-3399del, XM_017014002.1:c.-3399dup, XM_017014002.1:c.-3400_-3399dup, XM_017014002.1:c.-3401_-3399dup, XM_017014002.1:c.-3402_-3399dup

Select item 14915148363.

rs1491514836 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 8:64689506 (GRCh38)
8:65602063 (GRCh37)
Canonical SPDI:: NC_000008.11:64689505:TT:
Gene:: CYP7B1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000008.11:g.64689506_64689507del, NC_000008.10:g.65602063_65602064del, NG_008338.2:g.114285_114286del

Select item 14915105314.

rs1491510531 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 8:64698332 (GRCh38)
8:65610889 (GRCh37)
Canonical SPDI:: NC_000008.11:64698331:AG:
Gene:: CYP7B1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000008.11:g.64698332_64698333del, NC_000008.10:g.65610889_65610890del, NG_008338.2:g.105459_105460del, XM_017014002.2:c.-6128_-6127del, XM_017014002.1:c.-6128_-6127del

Select item 14913654405.

rs1491365440 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 8:64695603 (GRCh38)
8:65608160 (GRCh37)
Canonical SPDI:: NC_000008.11:64695602:CT:
Gene:: CYP7B1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00003/3 (GnomAD)
HGVS:: NC_000008.11:g.64695603_64695604del, NC_000008.10:g.65608160_65608161del, NG_008338.2:g.108188_108189del, XM_017014002.2:c.-3399_-3398del, XM_017014002.1:c.-3399_-3398del

Select item 14913404946.

rs1491340494 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AG,CG,TG [Show Flanks]
Chromosome:: 8:64722744 (GRCh38)
8:65635302 (GRCh37)
Canonical SPDI:: NC_000008.11:64722744:G:GAG,NC_000008.11:64722744:G:GCG,NC_000008.11:64722744:G:GTG
Gene:: CYP7B1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GCG=0./0 (ALFA)
GC=0./0 (Korea1K)
GC=0.00008/1 (TOMMO)
HGVS:: NC_000008.11:g.64722745_64722746insAG, NC_000008.11:g.64722745_64722746insCG, NC_000008.11:g.64722745_64722746insTG, NC_000008.10:g.65635302_65635303insAG, NC_000008.10:g.65635302_65635303insCG, NC_000008.10:g.65635302_65635303insTG, NG_008338.2:g.81047_81048insTC, NG_008338.2:g.81047_81048insGC, NG_008338.2:g.81047_81048insAC

Select item 14912912067.

rs1491291206 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 8:64677438 (GRCh38)
8:65589995 (GRCh37)
Canonical SPDI:: NC_000008.11:64677437:CA:
Gene:: CYP7B1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000008.11:g.64677438_64677439del, NC_000008.10:g.65589995_65589996del, NG_008338.2:g.126353_126354del

Select item 14912660238.

rs1491266023 has merged into rs879449118 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>-,TATA,TATATA [Show Flanks]
Chromosome:: 8:64643096 (GRCh38)
8:65555653 (GRCh37)
Canonical SPDI:: NC_000008.11:64643087:TATATATATA:TATATATA,NC_000008.11:64643087:TATATATATA:TATATATATATA,NC_000008.11:64643087:TATATATATA:TATATATATATATA
Gene:: CYP7B1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATATA=0./0 (ALFA)
-=0.00128/24 (GnomAD)
HGVS:: NC_000008.11:g.64643088TA[4], NC_000008.11:g.64643088TA[6], NC_000008.11:g.64643088TA[7], NC_000008.10:g.65555645TA[4], NC_000008.10:g.65555645TA[6], NC_000008.10:g.65555645TA[7], NG_008338.2:g.160695TA[4], NG_008338.2:g.160695TA[6], NG_008338.2:g.160695TA[7]

Select item 14912231709.

rs1491223170 [Homo sapiens]

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

Select item 149121638410.

rs1491216384 has merged into rs5891968 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAA>AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 8:64607399 (GRCh38)
8:65519956 (GRCh37)
Canonical SPDI:: NC_000008.11:64607398:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000008.11:64607398:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000008.11:64607398:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000008.11:64607398:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000008.11:64607398:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000008.11:64607398:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000008.11:64607398:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000008.11:64607398:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000008.11:64607398:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:64607398:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:64607398:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:64607398:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:64607398:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:64607398:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:64607398:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:64607398:AAAAAAAAAAAAAAAAAA:TTTTTTTTTTTTTTTT,NC_000008.11:64607398:AAAAAAAAAAAAAAAAAA:TTTTTTTTTTTTTTTTTTT
Gene:: CYP7B1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
-=0.185/713 (ALSPAC)
A=0.3952/1979 (1000Genomes)
HGVS:: NC_000008.11:g.64607412_64607416del, NC_000008.11:g.64607413_64607416del, NC_000008.11:g.64607414_64607416del, NC_000008.11:g.64607415_64607416del, NC_000008.11:g.64607416del, NC_000008.11:g.64607416dup, NC_000008.11:g.64607415_64607416dup, NC_000008.11:g.64607414_64607416dup, NC_000008.11:g.64607413_64607416dup, NC_000008.11:g.64607410_64607416dup, NC_000008.11:g.64607408_64607416dup, NC_000008.11:g.64607407_64607416dup, NC_000008.11:g.64607406_64607416dup, NC_000008.11:g.64607404_64607416dup, NC_000008.11:g.64607416_64607417insAAAAAAAAAAAAAAAAAAA, NC_000008.11:g.64607399_64607416delinsTTTTTTTTTTTTTTTT, NC_000008.11:g.64607399_64607416delinsTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.65519969_65519973del, NC_000008.10:g.65519970_65519973del, NC_000008.10:g.65519971_65519973del, NC_000008.10:g.65519972_65519973del, NC_000008.10:g.65519973del, NC_000008.10:g.65519973dup, NC_000008.10:g.65519972_65519973dup, NC_000008.10:g.65519971_65519973dup, NC_000008.10:g.65519970_65519973dup, NC_000008.10:g.65519967_65519973dup, NC_000008.10:g.65519965_65519973dup, NC_000008.10:g.65519964_65519973dup, NC_000008.10:g.65519963_65519973dup, NC_000008.10:g.65519961_65519973dup, NC_000008.10:g.65519973_65519974insAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.65519956_65519973delinsTTTTTTTTTTTTTTTT, NC_000008.10:g.65519956_65519973delinsTTTTTTTTTTTTTTTTTTT, NG_008338.2:g.196389_196393del, NG_008338.2:g.196390_196393del, NG_008338.2:g.196391_196393del, NG_008338.2:g.196392_196393del, NG_008338.2:g.196393del, NG_008338.2:g.196393dup, NG_008338.2:g.196392_196393dup, NG_008338.2:g.196391_196393dup, NG_008338.2:g.196390_196393dup, NG_008338.2:g.196387_196393dup, NG_008338.2:g.196385_196393dup, NG_008338.2:g.196384_196393dup, NG_008338.2:g.196383_196393dup, NG_008338.2:g.196381_196393dup, NG_008338.2:g.196393_196394insTTTTTTTTTTTTTTTTTTT, NG_008338.2:g.196376_196393delinsAAAAAAAAAAAAAAAA, NG_008338.2:g.196376_196393delinsAAAAAAAAAAAAAAAAAAA

Select item 149118377611.

rs1491183776 [Homo sapiens]

Variant type:: INS
Alleles:: ->GTATATATACACATATATATACATATATATACACATATATATAC,GTATATATATACAC,GTATATATATACACACATATATAC,GTATATATATACACATATATATAC,GTATATATATACACATATATATACATATATATACACATATATATAC,GTATATATATACACATATATATACATATATATACACATATATATACATATATATACACATATATATAC,GTATATATATATACACATATATATAC,GTATATATATATACACATATATATACATATATATACACATATATATAC,GTGTATATATATACACATATATATAC,GTGTATATATATACACATATATATACATATATATACACATATATATAC [Show Flanks]
Chromosome:: 8:64643088 (GRCh38)
8:65555646 (GRCh37)
Canonical SPDI:: NC_000008.11:64643088::GTATATATACACATATATATACATATATATACACATATATATAC,NC_000008.11:64643088::GTATATATATACAC,NC_000008.11:64643088::GTATATATATACACACATATATAC,NC_000008.11:64643088::GTATATATATACACATATATATAC,NC_000008.11:64643088::GTATATATATACACATATATATACATATATATACACATATATATAC,NC_000008.11:64643088::GTATATATATACACATATATATACATATATATACACATATATATACATATATATACACATATATATAC,NC_000008.11:64643088::GTATATATATATACACATATATATAC,NC_000008.11:64643088::GTATATATATATACACATATATATACATATATATACACATATATATAC,NC_000008.11:64643088::GTGTATATATATACACATATATATAC,NC_000008.11:64643088::GTGTATATATATACACATATATATACATATATATACACATATATATAC
Gene:: CYP7B1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTATATATATACACACATATATAC=0./0 (ALFA)
GTATATATATACACATATATATACATATATATACACATATATATAC=0.00084/14 (TOMMO)
HGVS:: NC_000008.11:g.64643088_64643089insGTATATATACACATATATATACATATATATACACATATATATAC, NC_000008.11:g.64643088_64643089insGTATATATATACAC, NC_000008.11:g.64643088_64643089insGTATATATATACACACATATATAC, NC_000008.11:g.64643088_64643089insGTATATATATACACATATATATAC, NC_000008.11:g.64643088_64643089insGTATATATATACACATATATATACATATATATACACATATATATAC, NC_000008.11:g.64643088_64643089insGTATATATATACACATATATATACATATATATACACATATATATACATATATATACACATATATATAC, NC_000008.11:g.64643088_64643089insGTATATATATATACACATATATATAC, NC_000008.11:g.64643088_64643089insGTATATATATATACACATATATATACATATATATACACATATATATAC, NC_000008.11:g.64643088_64643089insGTGTATATATATACACATATATATAC, NC_000008.11:g.64643088_64643089insGTGTATATATATACACATATATATACATATATATACACATATATATAC, NC_000008.10:g.65555645_65555646insGTATATATACACATATATATACATATATATACACATATATATAC, NC_000008.10:g.65555645_65555646insGTATATATATACAC, NC_000008.10:g.65555645_65555646insGTATATATATACACACATATATAC, NC_000008.10:g.65555645_65555646insGTATATATATACACATATATATAC, NC_000008.10:g.65555645_65555646insGTATATATATACACATATATATACATATATATACACATATATATAC, NC_000008.10:g.65555645_65555646insGTATATATATACACATATATATACATATATATACACATATATATACATATATATACACATATATATAC, NC_000008.10:g.65555645_65555646insGTATATATATATACACATATATATAC, NC_000008.10:g.65555645_65555646insGTATATATATATACACATATATATACATATATATACACATATATATAC, NC_000008.10:g.65555645_65555646insGTGTATATATATACACATATATATAC, NC_000008.10:g.65555645_65555646insGTGTATATATATACACATATATATACATATATATACACATATATATAC, NG_008338.2:g.160703_160704insGTATATATATGTGTATATATATGTATATATATGTGTATATATAC, NG_008338.2:g.160703_160704insGTGTATATATATAC, NG_008338.2:g.160703_160704insGTATATATGTGTGTATATATATAC, NG_008338.2:g.160703_160704insGTATATATATGTGTATATATATAC, NG_008338.2:g.160703_160704insGTATATATATGTGTATATATATGTATATATATGTGTATATATATAC, NG_008338.2:g.160703_160704insGTATATATATGTGTATATATATGTATATATATGTGTATATATATGTATATATATGTGTATATATATAC, NG_008338.2:g.160703_160704insGTATATATATGTGTATATATATATAC, NG_008338.2:g.160703_160704insGTATATATATGTGTATATATATGTATATATATGTGTATATATATATAC, NG_008338.2:g.160703_160704insGTATATATATGTGTATATATATACAC, NG_008338.2:g.160703_160704insGTATATATATGTGTATATATATGTATATATATGTGTATATATATACAC

Select item 149116300112.

rs1491163001 has merged into rs71260899 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGGGGGGG>-,G,GGGGG,GGGGGG,GGGGGGG,GGGGGGGGG,GGGGGGGGGG,GGGGGGGGGGG,GGGGGGGGGGGG [Show Flanks]
Chromosome:: 8:64722749 (GRCh38)
8:65635306 (GRCh37)
Canonical SPDI:: NC_000008.11:64722743:GGGGGGGGGGGGG:GGGGG,NC_000008.11:64722743:GGGGGGGGGGGGG:GGGGGG,NC_000008.11:64722743:GGGGGGGGGGGGG:GGGGGGGGGG,NC_000008.11:64722743:GGGGGGGGGGGGG:GGGGGGGGGGG,NC_000008.11:64722743:GGGGGGGGGGGGG:GGGGGGGGGGGG,NC_000008.11:64722743:GGGGGGGGGGGGG:GGGGGGGGGGGGGG,NC_000008.11:64722743:GGGGGGGGGGGGG:GGGGGGGGGGGGGGG,NC_000008.11:64722743:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGG,NC_000008.11:64722743:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGGG
Gene:: CYP7B1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGG=0./0 (ALFA)
G=0.0523/18 (NorthernSweden)
HGVS:: NC_000008.11:g.64722749_64722756del, NC_000008.11:g.64722750_64722756del, NC_000008.11:g.64722754_64722756del, NC_000008.11:g.64722755_64722756del, NC_000008.11:g.64722756del, NC_000008.11:g.64722756dup, NC_000008.11:g.64722755_64722756dup, NC_000008.11:g.64722754_64722756dup, NC_000008.11:g.64722753_64722756dup, NC_000008.10:g.65635306_65635313del, NC_000008.10:g.65635307_65635313del, NC_000008.10:g.65635311_65635313del, NC_000008.10:g.65635312_65635313del, NC_000008.10:g.65635313del, NC_000008.10:g.65635313dup, NC_000008.10:g.65635312_65635313dup, NC_000008.10:g.65635311_65635313dup, NC_000008.10:g.65635310_65635313dup, NG_008338.2:g.81041_81048del, NG_008338.2:g.81042_81048del, NG_008338.2:g.81046_81048del, NG_008338.2:g.81047_81048del, NG_008338.2:g.81048del, NG_008338.2:g.81048dup, NG_008338.2:g.81047_81048dup, NG_008338.2:g.81046_81048dup, NG_008338.2:g.81045_81048dup

Select item 149112921813.

rs1491129218 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TTTCAT [Show Flanks]
Chromosome:: 8:64689506 (GRCh38)
8:65602064 (GRCh37)
Canonical SPDI:: NC_000008.11:64689506:T:TTTTCAT
Gene:: CYP7B1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTTTCAT=0./0 (ALFA)
TTTTCA=0.000043/6 (GnomAD)
HGVS:: NC_000008.11:g.64689507T[4]CAT[1], NC_000008.10:g.65602064T[4]CAT[1], NG_008338.2:g.114285_114286insTGAAAA

Select item 149112813214.

rs1491128132 has merged into rs148821778 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 8:64677448 (GRCh38)
8:65590005 (GRCh37)
Canonical SPDI:: NC_000008.11:64677438:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000008.11:64677438:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000008.11:64677438:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000008.11:64677438:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000008.11:64677438:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000008.11:64677438:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000008.11:64677438:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000008.11:64677438:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000008.11:64677438:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000008.11:64677438:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000008.11:64677438:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000008.11:64677438:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000008.11:64677438:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000008.11:64677438:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:64677438:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:64677438:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:64677438:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:64677438:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:64677438:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:64677438:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CYP7B1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
-=0.1214/468 (ALSPAC)
HGVS:: NC_000008.11:g.64677448_64677464del, NC_000008.11:g.64677449_64677464del, NC_000008.11:g.64677450_64677464del, NC_000008.11:g.64677451_64677464del, NC_000008.11:g.64677452_64677464del, NC_000008.11:g.64677453_64677464del, NC_000008.11:g.64677454_64677464del, NC_000008.11:g.64677455_64677464del, NC_000008.11:g.64677456_64677464del, NC_000008.11:g.64677457_64677464del, NC_000008.11:g.64677458_64677464del, NC_000008.11:g.64677459_64677464del, NC_000008.11:g.64677460_64677464del, NC_000008.11:g.64677461_64677464del, NC_000008.11:g.64677462_64677464del, NC_000008.11:g.64677463_64677464del, NC_000008.11:g.64677464del, NC_000008.11:g.64677464dup, NC_000008.11:g.64677463_64677464dup, NC_000008.11:g.64677462_64677464dup, NC_000008.10:g.65590005_65590021del, NC_000008.10:g.65590006_65590021del, NC_000008.10:g.65590007_65590021del, NC_000008.10:g.65590008_65590021del, NC_000008.10:g.65590009_65590021del, NC_000008.10:g.65590010_65590021del, NC_000008.10:g.65590011_65590021del, NC_000008.10:g.65590012_65590021del, NC_000008.10:g.65590013_65590021del, NC_000008.10:g.65590014_65590021del, NC_000008.10:g.65590015_65590021del, NC_000008.10:g.65590016_65590021del, NC_000008.10:g.65590017_65590021del, NC_000008.10:g.65590018_65590021del, NC_000008.10:g.65590019_65590021del, NC_000008.10:g.65590020_65590021del, NC_000008.10:g.65590021del, NC_000008.10:g.65590021dup, NC_000008.10:g.65590020_65590021dup, NC_000008.10:g.65590019_65590021dup, NG_008338.2:g.126337_126353del, NG_008338.2:g.126338_126353del, NG_008338.2:g.126339_126353del, NG_008338.2:g.126340_126353del, NG_008338.2:g.126341_126353del, NG_008338.2:g.126342_126353del, NG_008338.2:g.126343_126353del, NG_008338.2:g.126344_126353del, NG_008338.2:g.126345_126353del, NG_008338.2:g.126346_126353del, NG_008338.2:g.126347_126353del, NG_008338.2:g.126348_126353del, NG_008338.2:g.126349_126353del, NG_008338.2:g.126350_126353del, NG_008338.2:g.126351_126353del, NG_008338.2:g.126352_126353del, NG_008338.2:g.126353del, NG_008338.2:g.126353dup, NG_008338.2:g.126352_126353dup, NG_008338.2:g.126351_126353dup

Select item 149112448715.

rs1491124487 has merged into rs377598990 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>-,G,GGG,GGGG,GGGGG,GGGGGG,GGGGGGG,GGGGGGGG [Show Flanks]
Chromosome:: 8:64691493 (GRCh38)
8:65604050 (GRCh37)
Canonical SPDI:: NC_000008.11:64691482:GGGGGGGGGGGG:GGGGGGGGGG,NC_000008.11:64691482:GGGGGGGGGGGG:GGGGGGGGGGG,NC_000008.11:64691482:GGGGGGGGGGGG:GGGGGGGGGGGGG,NC_000008.11:64691482:GGGGGGGGGGGG:GGGGGGGGGGGGGG,NC_000008.11:64691482:GGGGGGGGGGGG:GGGGGGGGGGGGGGG,NC_000008.11:64691482:GGGGGGGGGGGG:GGGGGGGGGGGGGGGG,NC_000008.11:64691482:GGGGGGGGGGGG:GGGGGGGGGGGGGGGGG,NC_000008.11:64691482:GGGGGGGGGGGG:GGGGGGGGGGGGGGGGGG
Gene:: CYP7B1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGGGGG=0./0 (ALFA)
HGVS:: NC_000008.11:g.64691493_64691494del, NC_000008.11:g.64691494del, NC_000008.11:g.64691494dup, NC_000008.11:g.64691493_64691494dup, NC_000008.11:g.64691492_64691494dup, NC_000008.11:g.64691491_64691494dup, NC_000008.11:g.64691490_64691494dup, NC_000008.11:g.64691489_64691494dup, NC_000008.10:g.65604050_65604051del, NC_000008.10:g.65604051del, NC_000008.10:g.65604051dup, NC_000008.10:g.65604050_65604051dup, NC_000008.10:g.65604049_65604051dup, NC_000008.10:g.65604048_65604051dup, NC_000008.10:g.65604047_65604051dup, NC_000008.10:g.65604046_65604051dup, NG_008338.2:g.112308_112309del, NG_008338.2:g.112309del, NG_008338.2:g.112309dup, NG_008338.2:g.112308_112309dup, NG_008338.2:g.112307_112309dup, NG_008338.2:g.112306_112309dup, NG_008338.2:g.112305_112309dup, NG_008338.2:g.112304_112309dup

Select item 149112207516.

rs1491122075 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 8:64697044 (GRCh38)
8:65609602 (GRCh37)
Canonical SPDI:: NC_000008.11:64697044:GGGG:GGGGG
Gene:: CYP7B1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGG=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000008.11:g.64697048dup, NC_000008.10:g.65609605dup, NG_008338.2:g.106747dup, XM_017014002.2:c.-4840dup, XM_017014002.1:c.-4840dup

Select item 149103731417.

rs1491037314 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTATATATATATAT [Show Flanks]
Chromosome:: 8:64778177 (GRCh38)
8:65690735 (GRCh37)
Canonical SPDI:: NC_000008.11:64778177:TATATATATATAT:TATATATATATATGTATATATATATAT
Gene:: CYP7B1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TATATATATATATGTATATATATATAT=0./0 (ALFA)
TATATATATATATG=0.00003/2 (GnomAD)
HGVS:: NC_000008.11:g.64778178_64778190TA[6]TGTATATATATATAT[1], NC_000008.10:g.65690735_65690747TA[6]TGTATATATATATAT[1], NG_008338.2:g.25602_25614AT[6]ACATATATATATATA[1]

Select item 149102297218.

rs1491022972 has merged into rs11435388 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 8:64677717 (GRCh38)
8:65590274 (GRCh37)
Canonical SPDI:: NC_000008.11:64677706:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000008.11:64677706:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000008.11:64677706:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000008.11:64677706:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000008.11:64677706:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000008.11:64677706:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000008.11:64677706:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000008.11:64677706:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000008.11:64677706:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000008.11:64677706:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000008.11:64677706:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000008.11:64677706:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000008.11:64677706:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:64677706:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:64677706:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:64677706:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:64677706:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:64677706:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:64677706:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:64677706:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:64677706:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:64677706:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:64677706:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:64677706:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:64677706:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:64677706:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: CYP7B1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.0224/83 (TWINSUK)
-=0.0236/91 (ALSPAC)
-=0.325/13 (GENOME_DK)
HGVS:: NC_000008.11:g.64677717_64677732del, NC_000008.11:g.64677718_64677732del, NC_000008.11:g.64677719_64677732del, NC_000008.11:g.64677720_64677732del, NC_000008.11:g.64677721_64677732del, NC_000008.11:g.64677722_64677732del, NC_000008.11:g.64677723_64677732del, NC_000008.11:g.64677724_64677732del, NC_000008.11:g.64677725_64677732del, NC_000008.11:g.64677726_64677732del, NC_000008.11:g.64677727_64677732del, NC_000008.11:g.64677728_64677732del, NC_000008.11:g.64677729_64677732del, NC_000008.11:g.64677730_64677732del, NC_000008.11:g.64677731_64677732del, NC_000008.11:g.64677732del, NC_000008.11:g.64677732dup, NC_000008.11:g.64677731_64677732dup, NC_000008.11:g.64677730_64677732dup, NC_000008.11:g.64677729_64677732dup, NC_000008.11:g.64677728_64677732dup, NC_000008.11:g.64677727_64677732dup, NC_000008.11:g.64677725_64677732dup, NC_000008.11:g.64677708_64677732dup, NC_000008.11:g.64677732_64677733insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.11:g.64677732_64677733insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.65590274_65590289del, NC_000008.10:g.65590275_65590289del, NC_000008.10:g.65590276_65590289del, NC_000008.10:g.65590277_65590289del, NC_000008.10:g.65590278_65590289del, NC_000008.10:g.65590279_65590289del, NC_000008.10:g.65590280_65590289del, NC_000008.10:g.65590281_65590289del, NC_000008.10:g.65590282_65590289del, NC_000008.10:g.65590283_65590289del, NC_000008.10:g.65590284_65590289del, NC_000008.10:g.65590285_65590289del, NC_000008.10:g.65590286_65590289del, NC_000008.10:g.65590287_65590289del, NC_000008.10:g.65590288_65590289del, NC_000008.10:g.65590289del, NC_000008.10:g.65590289dup, NC_000008.10:g.65590288_65590289dup, NC_000008.10:g.65590287_65590289dup, NC_000008.10:g.65590286_65590289dup, NC_000008.10:g.65590285_65590289dup, NC_000008.10:g.65590284_65590289dup, NC_000008.10:g.65590282_65590289dup, NC_000008.10:g.65590265_65590289dup, NC_000008.10:g.65590289_65590290insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.65590289_65590290insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008338.2:g.126070_126085del, NG_008338.2:g.126071_126085del, NG_008338.2:g.126072_126085del, NG_008338.2:g.126073_126085del, NG_008338.2:g.126074_126085del, NG_008338.2:g.126075_126085del, NG_008338.2:g.126076_126085del, NG_008338.2:g.126077_126085del, NG_008338.2:g.126078_126085del, NG_008338.2:g.126079_126085del, NG_008338.2:g.126080_126085del, NG_008338.2:g.126081_126085del, NG_008338.2:g.126082_126085del, NG_008338.2:g.126083_126085del, NG_008338.2:g.126084_126085del, NG_008338.2:g.126085del, NG_008338.2:g.126085dup, NG_008338.2:g.126084_126085dup, NG_008338.2:g.126083_126085dup, NG_008338.2:g.126082_126085dup, NG_008338.2:g.126081_126085dup, NG_008338.2:g.126080_126085dup, NG_008338.2:g.126078_126085dup, NG_008338.2:g.126061_126085dup, NG_008338.2:g.126085_126086insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_008338.2:g.126085_126086insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 149102150719.

rs1491021507 has merged into rs201366655 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 8:64621749 (GRCh38)
8:65534306 (GRCh37)
Canonical SPDI:: NC_000008.11:64621734:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000008.11:64621734:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000008.11:64621734:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000008.11:64621734:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000008.11:64621734:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000008.11:64621734:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000008.11:64621734:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000008.11:64621734:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:64621734:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:64621734:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:64621734:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:64621734:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:64621734:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:64621734:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: CYP7B1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000008.11:g.64621749_64621755del, NC_000008.11:g.64621750_64621755del, NC_000008.11:g.64621751_64621755del, NC_000008.11:g.64621752_64621755del, NC_000008.11:g.64621753_64621755del, NC_000008.11:g.64621754_64621755del, NC_000008.11:g.64621755del, NC_000008.11:g.64621755dup, NC_000008.11:g.64621754_64621755dup, NC_000008.11:g.64621753_64621755dup, NC_000008.11:g.64621752_64621755dup, NC_000008.11:g.64621750_64621755dup, NC_000008.11:g.64621749_64621755dup, NC_000008.11:g.64621748_64621755dup, NC_000008.10:g.65534306_65534312del, NC_000008.10:g.65534307_65534312del, NC_000008.10:g.65534308_65534312del, NC_000008.10:g.65534309_65534312del, NC_000008.10:g.65534310_65534312del, NC_000008.10:g.65534311_65534312del, NC_000008.10:g.65534312del, NC_000008.10:g.65534312dup, NC_000008.10:g.65534311_65534312dup, NC_000008.10:g.65534310_65534312dup, NC_000008.10:g.65534309_65534312dup, NC_000008.10:g.65534307_65534312dup, NC_000008.10:g.65534306_65534312dup, NC_000008.10:g.65534305_65534312dup, NG_008338.2:g.182051_182057del, NG_008338.2:g.182052_182057del, NG_008338.2:g.182053_182057del, NG_008338.2:g.182054_182057del, NG_008338.2:g.182055_182057del, NG_008338.2:g.182056_182057del, NG_008338.2:g.182057del, NG_008338.2:g.182057dup, NG_008338.2:g.182056_182057dup, NG_008338.2:g.182055_182057dup, NG_008338.2:g.182054_182057dup, NG_008338.2:g.182052_182057dup, NG_008338.2:g.182051_182057dup, NG_008338.2:g.182050_182057dup

Select item 149100409120.

rs1491004091 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 8:64659344 (GRCh38)
8:65571901 (GRCh37)
Canonical SPDI:: NC_000008.11:64659343:C:A
Gene:: CYP7B1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.64659344C>A, NC_000008.10:g.65571901C>A, NG_008338.2:g.144448G>T

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