SNP Links for Nucleotide (Select 1022943340) - SNP

Links from Nucleotide

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Select item 14915879781.

rs1491587978 has merged into rs979642708 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT [Show Flanks]
Chromosome:: 4:17990655 (GRCh38)
4:17992278 (GRCh37)
Canonical SPDI:: NC_000004.12:17990642:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000004.12:17990642:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000004.12:17990642:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000004.12:17990642:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000004.12:17990642:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000004.12:17990642:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000004.12:17990642:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000004.12:17990642:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000004.12:17990642:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000004.12:17990642:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:17990642:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:17990642:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT
Gene:: LCORL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
-=0.5/4 (KOREAN)
HGVS:: NC_000004.12:g.17990655_17990660del, NC_000004.12:g.17990656_17990660del, NC_000004.12:g.17990657_17990660del, NC_000004.12:g.17990658_17990660del, NC_000004.12:g.17990659_17990660del, NC_000004.12:g.17990660del, NC_000004.12:g.17990660dup, NC_000004.12:g.17990659_17990660dup, NC_000004.12:g.17990658_17990660dup, NC_000004.12:g.17990657_17990660dup, NC_000004.12:g.17990656_17990660dup, NC_000004.12:g.17990655_17990660dup, NC_000004.11:g.17992278_17992283del, NC_000004.11:g.17992279_17992283del, NC_000004.11:g.17992280_17992283del, NC_000004.11:g.17992281_17992283del, NC_000004.11:g.17992282_17992283del, NC_000004.11:g.17992283del, NC_000004.11:g.17992283dup, NC_000004.11:g.17992282_17992283dup, NC_000004.11:g.17992281_17992283dup, NC_000004.11:g.17992280_17992283dup, NC_000004.11:g.17992279_17992283dup, NC_000004.11:g.17992278_17992283dup, NG_015822.2:g.36213_36218del, NG_015822.2:g.36214_36218del, NG_015822.2:g.36215_36218del, NG_015822.2:g.36216_36218del, NG_015822.2:g.36217_36218del, NG_015822.2:g.36218del, NG_015822.2:g.36218dup, NG_015822.2:g.36217_36218dup, NG_015822.2:g.36216_36218dup, NG_015822.2:g.36215_36218dup, NG_015822.2:g.36214_36218dup, NG_015822.2:g.36213_36218dup

Select item 14915745062.

rs1491574506 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 4:17916667 (GRCh38)
4:17918290 (GRCh37)
Canonical SPDI:: NC_000004.12:17916666:TA:
Gene:: LCORL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000004.12:g.17916667_17916668del, NC_000004.11:g.17918290_17918291del, NG_015822.2:g.110193_110194del

Select item 14915584303.

rs1491558430 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 4:17860224 (GRCh38)
4:17861847 (GRCh37)
Canonical SPDI:: NC_000004.12:17860222:TGT:T
Gene:: LCORL (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000106/3 (TOMMO)
HGVS:: NC_000004.12:g.17860224_17860225del, NC_000004.11:g.17861847_17861848del, NG_015822.2:g.166637_166638del

Select item 14915476044.

rs1491547604 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 4:17889149 (GRCh38)
4:17890773 (GRCh37)
Canonical SPDI:: NC_000004.12:17889149:A:AA
Gene:: LCORL (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0.000054/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000004.12:g.17889150dup, NC_000004.11:g.17890773dup, NG_015822.2:g.137711dup

Select item 14915280865.

rs1491528086 [Homo sapiens]

Variant type:: DELINS
Alleles:: AC>- [Show Flanks]
Chromosome:: 4:17889154 (GRCh38)
4:17890777 (GRCh37)
Canonical SPDI:: NC_000004.12:17889148:CACACAC:CACAC
Gene:: LCORL (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CACAC=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000004.12:g.17889150AC[2], NC_000004.11:g.17890773AC[2], NG_015822.2:g.137707TG[2]

Select item 14915254196.

rs1491525419 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 4:17998965 (GRCh38)
4:18000589 (GRCh37)
Canonical SPDI:: NC_000004.12:17998965::C
Gene:: LCORL (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000004.12:g.17998965_17998966insC, NC_000004.11:g.18000588_18000589insC, NG_015822.2:g.27895_27896insG

Select item 14914894607.

rs1491489460 [Homo sapiens]

Variant type:: DELINS
Alleles:: TC>- [Show Flanks]
Chromosome:: 4:17931200 (GRCh38)
4:17932823 (GRCh37)
Canonical SPDI:: NC_000004.12:17931196:CTCTC:CTC
Gene:: LCORL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTC=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.17931198TC[1], NC_000004.11:g.17932821TC[1], NG_015822.2:g.95661AG[1]

Select item 14914817028.

rs1491481702 has merged into rs775544332 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 4:17998976 (GRCh38)
4:18000599 (GRCh37)
Canonical SPDI:: NC_000004.12:17998964:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000004.12:17998964:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000004.12:17998964:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:17998964:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:17998964:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:17998964:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:17998964:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000004.12:17998964:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:17998964:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000004.12:17998964:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000004.12:17998964:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000004.12:17998964:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:17998964:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:17998964:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:17998964:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:17998964:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:17998964:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:17998964:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:17998964:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:17998964:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:17998964:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:17998964:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:17998964:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: LCORL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
AA=0.4/16 (GENOME_DK)
HGVS:: NC_000004.12:g.17998976_17998986del, NC_000004.12:g.17998977_17998986del, NC_000004.12:g.17998978_17998986del, NC_000004.12:g.17998979_17998986del, NC_000004.12:g.17998980_17998986del, NC_000004.12:g.17998981_17998986del, NC_000004.12:g.17998982_17998986del, NC_000004.12:g.17998983_17998986del, NC_000004.12:g.17998984_17998986del, NC_000004.12:g.17998985_17998986del, NC_000004.12:g.17998986del, NC_000004.12:g.17998986dup, NC_000004.12:g.17998985_17998986dup, NC_000004.12:g.17998984_17998986dup, NC_000004.12:g.17998983_17998986dup, NC_000004.12:g.17998982_17998986dup, NC_000004.12:g.17998981_17998986dup, NC_000004.12:g.17998980_17998986dup, NC_000004.12:g.17998979_17998986dup, NC_000004.12:g.17998978_17998986dup, NC_000004.12:g.17998977_17998986dup, NC_000004.12:g.17998976_17998986dup, NC_000004.12:g.17998975_17998986dup, NC_000004.11:g.18000599_18000609del, NC_000004.11:g.18000600_18000609del, NC_000004.11:g.18000601_18000609del, NC_000004.11:g.18000602_18000609del, NC_000004.11:g.18000603_18000609del, NC_000004.11:g.18000604_18000609del, NC_000004.11:g.18000605_18000609del, NC_000004.11:g.18000606_18000609del, NC_000004.11:g.18000607_18000609del, NC_000004.11:g.18000608_18000609del, NC_000004.11:g.18000609del, NC_000004.11:g.18000609dup, NC_000004.11:g.18000608_18000609dup, NC_000004.11:g.18000607_18000609dup, NC_000004.11:g.18000606_18000609dup, NC_000004.11:g.18000605_18000609dup, NC_000004.11:g.18000604_18000609dup, NC_000004.11:g.18000603_18000609dup, NC_000004.11:g.18000602_18000609dup, NC_000004.11:g.18000601_18000609dup, NC_000004.11:g.18000600_18000609dup, NC_000004.11:g.18000599_18000609dup, NC_000004.11:g.18000598_18000609dup, NG_015822.2:g.27886_27896del, NG_015822.2:g.27887_27896del, NG_015822.2:g.27888_27896del, NG_015822.2:g.27889_27896del, NG_015822.2:g.27890_27896del, NG_015822.2:g.27891_27896del, NG_015822.2:g.27892_27896del, NG_015822.2:g.27893_27896del, NG_015822.2:g.27894_27896del, NG_015822.2:g.27895_27896del, NG_015822.2:g.27896del, NG_015822.2:g.27896dup, NG_015822.2:g.27895_27896dup, NG_015822.2:g.27894_27896dup, NG_015822.2:g.27893_27896dup, NG_015822.2:g.27892_27896dup, NG_015822.2:g.27891_27896dup, NG_015822.2:g.27890_27896dup, NG_015822.2:g.27889_27896dup, NG_015822.2:g.27888_27896dup, NG_015822.2:g.27887_27896dup, NG_015822.2:g.27886_27896dup, NG_015822.2:g.27885_27896dup

Select item 14913896449.

rs1491389644 has merged into rs900356773 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>-,ATAT [Show Flanks]
Chromosome:: 4:17939898 (GRCh38)
4:17941521 (GRCh37)
Canonical SPDI:: NC_000004.12:17939893:ATATAT:ATAT,NC_000004.12:17939893:ATATAT:ATATATAT
Gene:: LCORL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATAT=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000035/1 (TOMMO)
HGVS:: NC_000004.12:g.17939894AT[2], NC_000004.12:g.17939894AT[4], NC_000004.11:g.17941517AT[2], NC_000004.11:g.17941517AT[4], NG_015822.2:g.86962AT[2], NG_015822.2:g.86962AT[4]

Select item 149136841210.

rs1491368412 has merged into rs199994160 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATATAT>-,ATAT,ATATATAT,ATATATATAT [Show Flanks]
Chromosome:: 4:17940122 (GRCh38)
4:17941745 (GRCh37)
Canonical SPDI:: NC_000004.12:17940116:TATATATATAT:TATAT,NC_000004.12:17940116:TATATATATAT:TATATATAT,NC_000004.12:17940116:TATATATATAT:TATATATATATAT,NC_000004.12:17940116:TATATATATAT:TATATATATATATAT
Gene:: LCORL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATAT=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.018333/11 (NorthernSweden)
-=0.025/1 (GENOME_DK)
TA=0.041733/209 (1000Genomes)
TA=0.097222/21 (Vietnamese)
HGVS:: NC_000004.12:g.17940118AT[2], NC_000004.12:g.17940118AT[4], NC_000004.12:g.17940118AT[6], NC_000004.12:g.17940118AT[7], NC_000004.11:g.17941741AT[2], NC_000004.11:g.17941741AT[4], NC_000004.11:g.17941741AT[6], NC_000004.11:g.17941741AT[7], NG_015822.2:g.86735TA[2], NG_015822.2:g.86735TA[4], NG_015822.2:g.86735TA[6], NG_015822.2:g.86735TA[7]

Select item 149136537311.

rs1491365373 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AT [Show Flanks]
Chromosome:: 4:17990097 (GRCh38)
4:17991721 (GRCh37)
Canonical SPDI:: NC_000004.12:17990097:T:TAT
Gene:: LCORL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TAT=0./0 (ALFA)
TA=0.00673/650 (GnomAD)
HGVS:: NC_000004.12:g.17990098_17990099insAT, NC_000004.11:g.17991721_17991722insAT, NG_015822.2:g.36763_36764insTA

Select item 149129302412.

rs1491293024 has merged into rs146713785 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATATATATA>-,TA,TATA,TATATA,TATATATA,TATATATATATA,TATATATATATATA,TATATATATATATATA,TATATATATATATATATA [Show Flanks]
Chromosome:: 4:17999021 (GRCh38)
4:18000644 (GRCh37)
Canonical SPDI:: NC_000004.12:17999009:ATATATATATATATATATATA:ATATATATATA,NC_000004.12:17999009:ATATATATATATATATATATA:ATATATATATATA,NC_000004.12:17999009:ATATATATATATATATATATA:ATATATATATATATA,NC_000004.12:17999009:ATATATATATATATATATATA:ATATATATATATATATA,NC_000004.12:17999009:ATATATATATATATATATATA:ATATATATATATATATATA,NC_000004.12:17999009:ATATATATATATATATATATA:ATATATATATATATATATATATA,NC_000004.12:17999009:ATATATATATATATATATATA:ATATATATATATATATATATATATA,NC_000004.12:17999009:ATATATATATATATATATATA:ATATATATATATATATATATATATATA,NC_000004.12:17999009:ATATATATATATATATATATA:ATATATATATATATATATATATATATATA
Gene:: LCORL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATATA=0./0 (ALFA)
ATAT=0.25/10 (GENOME_DK)
HGVS:: NC_000004.12:g.17999011TA[5], NC_000004.12:g.17999011TA[6], NC_000004.12:g.17999011TA[7], NC_000004.12:g.17999011TA[8], NC_000004.12:g.17999011TA[9], NC_000004.12:g.17999011TA[11], NC_000004.12:g.17999011TA[12], NC_000004.12:g.17999011TA[13], NC_000004.12:g.17999011TA[14], NC_000004.11:g.18000634TA[5], NC_000004.11:g.18000634TA[6], NC_000004.11:g.18000634TA[7], NC_000004.11:g.18000634TA[8], NC_000004.11:g.18000634TA[9], NC_000004.11:g.18000634TA[11], NC_000004.11:g.18000634TA[12], NC_000004.11:g.18000634TA[13], NC_000004.11:g.18000634TA[14], NG_015822.2:g.27832AT[5], NG_015822.2:g.27832AT[6], NG_015822.2:g.27832AT[7], NG_015822.2:g.27832AT[8], NG_015822.2:g.27832AT[9], NG_015822.2:g.27832AT[11], NG_015822.2:g.27832AT[12], NG_015822.2:g.27832AT[13], NG_015822.2:g.27832AT[14]

Select item 149126949313.

rs1491269493 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 4:17869063 (GRCh38)
4:17870686 (GRCh37)
Canonical SPDI:: NC_000004.12:17869062:TA:
Gene:: LCORL (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000004.12:g.17869063_17869064del, NC_000004.11:g.17870686_17870687del, NG_015822.2:g.157797_157798del

Select item 149126709314.

rs1491267093 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 4:17936359 (GRCh38)
4:17937982 (GRCh37)
Canonical SPDI:: NC_000004.12:17936358:TG:
Gene:: LCORL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: -=0.000024/3 (GnomAD)
HGVS:: NC_000004.12:g.17936359_17936360del, NC_000004.11:g.17937982_17937983del, NG_015822.2:g.90501_90502del

Select item 149126507115.

rs1491265071 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 4:17982147 (GRCh38)
4:17983770 (GRCh37)
Canonical SPDI:: NC_000004.12:17982144:TATA:TA
Gene:: LCORL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TATA=0.000084/1 (ALFA)
-=0.000079/10 (GnomAD)
HGVS:: NC_000004.12:g.17982145TA[1], NC_000004.11:g.17983768TA[1], NG_015822.2:g.44713TA[1]

Select item 149125815416.

rs1491258154 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 4:17995205 (GRCh38)
4:17996828 (GRCh37)
Canonical SPDI:: NC_000004.12:17995204:AT:
Gene:: LCORL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000004.12:g.17995205_17995206del, NC_000004.11:g.17996828_17996829del, NG_015822.2:g.31655_31656del

Select item 149125497117.

rs1491254971 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 4:17864233 (GRCh38)
4:17865857 (GRCh37)
Canonical SPDI:: NC_000004.12:17864233:TTTTTTTTT:TTTTTTTTTT
Gene:: LCORL (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0.001531/25 (ALFA)
T=0.000223/1 (Estonian)
T=0.002183/4 (Korea1K)
T=0.002655/17 (1000Genomes)
T=0.002937/49 (TOMMO)
T=0.003128/437 (GnomAD)
T=0.003559/942 (TOPMED)
HGVS:: NC_000004.12:g.17864242dup, NC_000004.11:g.17865865dup, NG_015822.2:g.162627dup

Select item 149124723218.

rs1491247232 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GT [Show Flanks]
Chromosome:: 4:17990643 (GRCh38)
4:17992267 (GRCh37)
Canonical SPDI:: NC_000004.12:17990643:T:TGT
Gene:: LCORL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TGT=0./0 (ALFA)
TG=0.00003/2 (GnomAD)
HGVS:: NC_000004.12:g.17990644_17990645insGT, NC_000004.11:g.17992267_17992268insGT, NG_015822.2:g.36217_36218insCA

Select item 149122674619.

rs1491226746 has merged into rs71651872 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>-,CTCT,CTCTCT [Show Flanks]
Chromosome:: 4:18010398 (GRCh38)
4:18012021 (GRCh37)
Canonical SPDI:: NC_000004.12:18010396:TCT:T,NC_000004.12:18010396:TCT:TCTCT,NC_000004.12:18010396:TCT:TCTCTCT
Gene:: LCORL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTCT=0.149033/2434 (ALFA)
TC=0.057329/961 (TOMMO)
TC=0.085/51 (NorthernSweden)
TC=0.086245/158 (Korea1K)
TC=0.111222/111 (GoNL)
TCTC=0.185703/930 (1000Genomes)
TC=0.2/8 (GENOME_DK)
TC=0.203339/28326 (GnomAD)
HGVS:: NC_000004.12:g.18010398_18010399del, NC_000004.12:g.18010398_18010399dup, NC_000004.12:g.18010398CT[3], NC_000004.11:g.18012021_18012022del, NC_000004.11:g.18012021_18012022dup, NC_000004.11:g.18012021CT[3], NG_015822.2:g.16463_16464del, NG_015822.2:g.16463_16464dup, NG_015822.2:g.16463GA[3]

Select item 149121496620.

rs1491214966 has merged into rs10602340 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 4:17995219 (GRCh38)
4:17996842 (GRCh37)
Canonical SPDI:: NC_000004.12:17995205:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000004.12:17995205:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000004.12:17995205:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000004.12:17995205:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000004.12:17995205:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000004.12:17995205:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000004.12:17995205:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000004.12:17995205:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: LCORL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.08054/48 (NorthernSweden)
-=0.39437/1975 (1000Genomes)
T=0.5/20 (GENOME_DK)
HGVS:: NC_000004.12:g.17995219_17995221del, NC_000004.12:g.17995220_17995221del, NC_000004.12:g.17995221del, NC_000004.12:g.17995221dup, NC_000004.12:g.17995220_17995221dup, NC_000004.12:g.17995219_17995221dup, NC_000004.12:g.17995217_17995221dup, NC_000004.12:g.17995221_17995222insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.17996842_17996844del, NC_000004.11:g.17996843_17996844del, NC_000004.11:g.17996844del, NC_000004.11:g.17996844dup, NC_000004.11:g.17996843_17996844dup, NC_000004.11:g.17996842_17996844dup, NC_000004.11:g.17996840_17996844dup, NC_000004.11:g.17996844_17996845insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_015822.2:g.31653_31655del, NG_015822.2:g.31654_31655del, NG_015822.2:g.31655del, NG_015822.2:g.31655dup, NG_015822.2:g.31654_31655dup, NG_015822.2:g.31653_31655dup, NG_015822.2:g.31651_31655dup, NG_015822.2:g.31655_31656insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

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