SNP Links for Gene (Select 91355) - SNP

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Select item 14915757701.

rs1491575770 has merged into rs71191059 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT [Show Flanks]
Chromosome:: 22:25400275 (GRCh38)
22:25796242 (GRCh37)
Canonical SPDI:: NC_000022.11:25400262:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000022.11:25400262:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000022.11:25400262:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000022.11:25400262:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000022.11:25400262:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000022.11:25400262:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000022.11:25400262:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000022.11:25400262:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000022.11:25400262:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000022.11:25400262:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:25400262:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT
Gene:: LRP5L (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000022.11:g.25400275_25400281del, NC_000022.11:g.25400276_25400281del, NC_000022.11:g.25400277_25400281del, NC_000022.11:g.25400278_25400281del, NC_000022.11:g.25400279_25400281del, NC_000022.11:g.25400280_25400281del, NC_000022.11:g.25400281del, NC_000022.11:g.25400281dup, NC_000022.11:g.25400280_25400281dup, NC_000022.11:g.25400279_25400281dup, NC_000022.11:g.25400278_25400281dup, NC_000022.10:g.25796242_25796248del, NC_000022.10:g.25796243_25796248del, NC_000022.10:g.25796244_25796248del, NC_000022.10:g.25796245_25796248del, NC_000022.10:g.25796246_25796248del, NC_000022.10:g.25796247_25796248del, NC_000022.10:g.25796248del, NC_000022.10:g.25796248dup, NC_000022.10:g.25796247_25796248dup, NC_000022.10:g.25796246_25796248dup, NC_000022.10:g.25796245_25796248dup

Select item 14915464332.

rs1491546433 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 22:25401772 (GRCh38)
22:25797739 (GRCh37)
Canonical SPDI:: NC_000022.11:25401771:CA:
Gene:: LRP5L (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00005/2 (GnomAD)
HGVS:: NC_000022.11:g.25401772_25401773del, NC_000022.10:g.25797739_25797740del

Select item 14915436053.

rs1491543605 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 22:25355854 (GRCh38)
22:25751821 (GRCh37)
Canonical SPDI:: NC_000022.11:25355852:ACA:A
Gene:: LRP5L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000084/1 (ALFA)
-=0.000115/16 (GnomAD)
-=0.000389/7 (TOMMO)
-=0.023001/42 (Korea1K)
HGVS:: NC_000022.11:g.25355854_25355855del, NC_000022.10:g.25751821_25751822del

Select item 14913969994.

rs1491396999 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTT [Show Flanks]
Chromosome:: 22:25353291 (GRCh38)
22:25749259 (GRCh37)
Canonical SPDI:: NC_000022.11:25353291:TT:TTCTT
Gene:: LRP5L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTCTT=0.00017/2 (ALFA)
TTC=0.00025/6 (TOMMO)
TTC=0.00215/28 (GnomAD)
TTC=0.00332/6 (Korea1K)
HGVS:: NC_000022.11:g.25353293_25353294insCTT, NC_000022.10:g.25749260_25749261insCTT

Select item 14913799575.

rs1491379957 has merged into rs133240 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTT>-,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 22:25407137 (GRCh38)
22:25803104 (GRCh37)
Canonical SPDI:: NC_000022.11:25407124:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000022.11:25407124:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000022.11:25407124:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000022.11:25407124:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000022.11:25407124:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000022.11:25407124:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000022.11:25407124:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000022.11:25407124:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000022.11:25407124:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:25407124:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:25407124:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:25407124:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:25407124:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:25407124:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:25407124:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:25407124:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:25407124:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:25407124:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:25407124:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:25407124:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: LRP5L (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
TTT=0.245/1227 (1000Genomes)
HGVS:: NC_000022.11:g.25407137_25407148del, NC_000022.11:g.25407139_25407148del, NC_000022.11:g.25407141_25407148del, NC_000022.11:g.25407142_25407148del, NC_000022.11:g.25407143_25407148del, NC_000022.11:g.25407144_25407148del, NC_000022.11:g.25407145_25407148del, NC_000022.11:g.25407146_25407148del, NC_000022.11:g.25407147_25407148del, NC_000022.11:g.25407148del, NC_000022.11:g.25407148dup, NC_000022.11:g.25407147_25407148dup, NC_000022.11:g.25407146_25407148dup, NC_000022.11:g.25407145_25407148dup, NC_000022.11:g.25407144_25407148dup, NC_000022.11:g.25407143_25407148dup, NC_000022.11:g.25407141_25407148dup, NC_000022.11:g.25407135_25407148dup, NC_000022.11:g.25407148_25407149insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000022.11:g.25407148_25407149insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000022.10:g.25803104_25803115del, NC_000022.10:g.25803106_25803115del, NC_000022.10:g.25803108_25803115del, NC_000022.10:g.25803109_25803115del, NC_000022.10:g.25803110_25803115del, NC_000022.10:g.25803111_25803115del, NC_000022.10:g.25803112_25803115del, NC_000022.10:g.25803113_25803115del, NC_000022.10:g.25803114_25803115del, NC_000022.10:g.25803115del, NC_000022.10:g.25803115dup, NC_000022.10:g.25803114_25803115dup, NC_000022.10:g.25803113_25803115dup, NC_000022.10:g.25803112_25803115dup, NC_000022.10:g.25803111_25803115dup, NC_000022.10:g.25803110_25803115dup, NC_000022.10:g.25803108_25803115dup, NC_000022.10:g.25803102_25803115dup, NC_000022.10:g.25803115_25803116insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000022.10:g.25803115_25803116insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14913750326.

rs1491375032 has merged into rs869187943 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 22:25401872 (GRCh38)
22:25797839 (GRCh37)
Canonical SPDI:: NC_000022.11:25401870:ACA:A
Gene:: LRP5L (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.25401872_25401873del, NC_000022.10:g.25797839_25797840del

Select item 14912306257.

rs1491230625 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 22:25359443 (GRCh38)
22:25755410 (GRCh37)
Canonical SPDI:: NC_000022.11:25359440:AGAG:AG
Gene:: LRP5L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AGAG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.25359441AG[1], NC_000022.10:g.25755408AG[1]

Select item 14911422168.

rs1491142216 has merged into rs133233 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 22:25401783 (GRCh38)
22:25797750 (GRCh37)
Canonical SPDI:: NC_000022.11:25401772:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000022.11:25401772:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000022.11:25401772:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000022.11:25401772:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000022.11:25401772:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000022.11:25401772:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000022.11:25401772:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000022.11:25401772:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000022.11:25401772:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000022.11:25401772:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:25401772:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:25401772:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:25401772:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:25401772:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: LRP5L (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
A=0.2212/1108 (1000Genomes)
HGVS:: NC_000022.11:g.25401783_25401792del, NC_000022.11:g.25401786_25401792del, NC_000022.11:g.25401787_25401792del, NC_000022.11:g.25401788_25401792del, NC_000022.11:g.25401789_25401792del, NC_000022.11:g.25401790_25401792del, NC_000022.11:g.25401791_25401792del, NC_000022.11:g.25401792del, NC_000022.11:g.25401792dup, NC_000022.11:g.25401791_25401792dup, NC_000022.11:g.25401790_25401792dup, NC_000022.11:g.25401789_25401792dup, NC_000022.11:g.25401788_25401792dup, NC_000022.11:g.25401792_25401793insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000022.10:g.25797750_25797759del, NC_000022.10:g.25797753_25797759del, NC_000022.10:g.25797754_25797759del, NC_000022.10:g.25797755_25797759del, NC_000022.10:g.25797756_25797759del, NC_000022.10:g.25797757_25797759del, NC_000022.10:g.25797758_25797759del, NC_000022.10:g.25797759del, NC_000022.10:g.25797759dup, NC_000022.10:g.25797758_25797759dup, NC_000022.10:g.25797757_25797759dup, NC_000022.10:g.25797756_25797759dup, NC_000022.10:g.25797755_25797759dup, NC_000022.10:g.25797759_25797760insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14911046759.

rs1491104675 has merged into rs3066154 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTTT>-,TTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 22:25353293 (GRCh38)
22:25749260 (GRCh37)
Canonical SPDI:: NC_000022.11:25353290:TTTTTTTTTTTTTTTTTTTT:TT,NC_000022.11:25353290:TTTTTTTTTTTTTTTTTTTT:TTTTT,NC_000022.11:25353290:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000022.11:25353290:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000022.11:25353290:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000022.11:25353290:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000022.11:25353290:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000022.11:25353290:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000022.11:25353290:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000022.11:25353290:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000022.11:25353290:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000022.11:25353290:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000022.11:25353290:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000022.11:25353290:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000022.11:25353290:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:25353290:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:25353290:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:25353290:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:25353290:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:25353290:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:25353290:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:25353290:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:25353290:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:25353290:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:25353290:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:25353290:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:25353290:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:25353290:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:25353290:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:25353290:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:25353290:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:25353290:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:25353290:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:25353290:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:25353290:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:25353290:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:25353290:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:25353290:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:25353290:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:25353290:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:25353290:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: LRP5L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.25353293_25353310del, NC_000022.11:g.25353296_25353310del, NC_000022.11:g.25353300_25353310del, NC_000022.11:g.25353301_25353310del, NC_000022.11:g.25353302_25353310del, NC_000022.11:g.25353303_25353310del, NC_000022.11:g.25353304_25353310del, NC_000022.11:g.25353305_25353310del, NC_000022.11:g.25353306_25353310del, NC_000022.11:g.25353307_25353310del, NC_000022.11:g.25353308_25353310del, NC_000022.11:g.25353309_25353310del, NC_000022.11:g.25353310del, NC_000022.11:g.25353310dup, NC_000022.11:g.25353309_25353310dup, NC_000022.11:g.25353308_25353310dup, NC_000022.11:g.25353307_25353310dup, NC_000022.11:g.25353306_25353310dup, NC_000022.11:g.25353305_25353310dup, NC_000022.11:g.25353304_25353310dup, NC_000022.11:g.25353303_25353310dup, NC_000022.11:g.25353302_25353310dup, NC_000022.11:g.25353301_25353310dup, NC_000022.11:g.25353300_25353310dup, NC_000022.11:g.25353299_25353310dup, NC_000022.11:g.25353298_25353310dup, NC_000022.11:g.25353297_25353310dup, NC_000022.11:g.25353296_25353310dup, NC_000022.11:g.25353295_25353310dup, NC_000022.11:g.25353294_25353310dup, NC_000022.11:g.25353293_25353310dup, NC_000022.11:g.25353292_25353310dup, NC_000022.11:g.25353291_25353310dup, NC_000022.11:g.25353310_25353311insTTTTTTTTTTTTTTTTTTTTT, NC_000022.11:g.25353310_25353311insTTTTTTTTTTTTTTTTTTTTTT, NC_000022.11:g.25353310_25353311insTTTTTTTTTTTTTTTTTTTTTTT, NC_000022.11:g.25353310_25353311insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000022.11:g.25353310_25353311insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000022.11:g.25353310_25353311insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000022.11:g.25353310_25353311insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000022.11:g.25353310_25353311insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000022.10:g.25749260_25749277del, NC_000022.10:g.25749263_25749277del, NC_000022.10:g.25749267_25749277del, NC_000022.10:g.25749268_25749277del, NC_000022.10:g.25749269_25749277del, NC_000022.10:g.25749270_25749277del, NC_000022.10:g.25749271_25749277del, NC_000022.10:g.25749272_25749277del, NC_000022.10:g.25749273_25749277del, NC_000022.10:g.25749274_25749277del, NC_000022.10:g.25749275_25749277del, NC_000022.10:g.25749276_25749277del, NC_000022.10:g.25749277del, NC_000022.10:g.25749277dup, NC_000022.10:g.25749276_25749277dup, NC_000022.10:g.25749275_25749277dup, NC_000022.10:g.25749274_25749277dup, NC_000022.10:g.25749273_25749277dup, NC_000022.10:g.25749272_25749277dup, NC_000022.10:g.25749271_25749277dup, NC_000022.10:g.25749270_25749277dup, NC_000022.10:g.25749269_25749277dup, NC_000022.10:g.25749268_25749277dup, NC_000022.10:g.25749267_25749277dup, NC_000022.10:g.25749266_25749277dup, NC_000022.10:g.25749265_25749277dup, NC_000022.10:g.25749264_25749277dup, NC_000022.10:g.25749263_25749277dup, NC_000022.10:g.25749262_25749277dup, NC_000022.10:g.25749261_25749277dup, NC_000022.10:g.25749260_25749277dup, NC_000022.10:g.25749259_25749277dup, NC_000022.10:g.25749258_25749277dup, NC_000022.10:g.25749277_25749278insTTTTTTTTTTTTTTTTTTTTT, NC_000022.10:g.25749277_25749278insTTTTTTTTTTTTTTTTTTTTTT, NC_000022.10:g.25749277_25749278insTTTTTTTTTTTTTTTTTTTTTTT, NC_000022.10:g.25749277_25749278insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000022.10:g.25749277_25749278insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000022.10:g.25749277_25749278insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000022.10:g.25749277_25749278insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000022.10:g.25749277_25749278insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149110116310.

rs1491101163 [Homo sapiens]

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

Select item 149108846311.

rs1491088463 has merged into rs133206 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA [Show Flanks]
Chromosome:: 22:25363535 (GRCh38)
22:25759502 (GRCh37)
Canonical SPDI:: NC_000022.11:25363526:AAAAAAAAAAAAAAA:AAAAAAAA,NC_000022.11:25363526:AAAAAAAAAAAAAAA:AAAAAAAAA,NC_000022.11:25363526:AAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000022.11:25363526:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000022.11:25363526:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000022.11:25363526:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000022.11:25363526:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000022.11:25363526:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000022.11:25363526:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000022.11:25363526:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000022.11:25363526:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
Gene:: LRP5L (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
A=0.45/18 (GENOME_DK)
HGVS:: NC_000022.11:g.25363535_25363541del, NC_000022.11:g.25363536_25363541del, NC_000022.11:g.25363537_25363541del, NC_000022.11:g.25363538_25363541del, NC_000022.11:g.25363539_25363541del, NC_000022.11:g.25363540_25363541del, NC_000022.11:g.25363541del, NC_000022.11:g.25363541dup, NC_000022.11:g.25363540_25363541dup, NC_000022.11:g.25363539_25363541dup, NC_000022.11:g.25363538_25363541dup, NC_000022.10:g.25759502_25759508del, NC_000022.10:g.25759503_25759508del, NC_000022.10:g.25759504_25759508del, NC_000022.10:g.25759505_25759508del, NC_000022.10:g.25759506_25759508del, NC_000022.10:g.25759507_25759508del, NC_000022.10:g.25759508del, NC_000022.10:g.25759508dup, NC_000022.10:g.25759507_25759508dup, NC_000022.10:g.25759506_25759508dup, NC_000022.10:g.25759505_25759508dup, XR_007068031.1:n.12750_12756del, XR_007068031.1:n.12751_12756del, XR_007068031.1:n.12752_12756del, XR_007068031.1:n.12753_12756del, XR_007068031.1:n.12754_12756del, XR_007068031.1:n.12755_12756del, XR_007068031.1:n.12756del, XR_007068031.1:n.12756dup, XR_007068031.1:n.12755_12756dup, XR_007068031.1:n.12754_12756dup, XR_007068031.1:n.12753_12756dup, XR_007068030.1:n.12498_12504del, XR_007068030.1:n.12499_12504del, XR_007068030.1:n.12500_12504del, XR_007068030.1:n.12501_12504del, XR_007068030.1:n.12502_12504del, XR_007068030.1:n.12503_12504del, XR_007068030.1:n.12504del, XR_007068030.1:n.12504dup, XR_007068030.1:n.12503_12504dup, XR_007068030.1:n.12502_12504dup, XR_007068030.1:n.12501_12504dup

Select item 149103955812.

rs1491039558 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 22:25382292 (GRCh38)
22:25778259 (GRCh37)
Canonical SPDI:: NC_000022.11:25382290:AGA:A
Gene:: LRP5L (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000184/3 (ALFA)
-=0.000101/13 (GnomAD)
-=0.004844/81 (TOMMO)
HGVS:: NC_000022.11:g.25382292_25382293del, NC_000022.10:g.25778259_25778260del

Select item 149103654813.

rs1491036548 has merged into rs133191 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA [Show Flanks]
Chromosome:: 22:25355847 (GRCh38)
22:25751814 (GRCh37)
Canonical SPDI:: NC_000022.11:25355836:AAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000022.11:25355836:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000022.11:25355836:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000022.11:25355836:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000022.11:25355836:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000022.11:25355836:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000022.11:25355836:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000022.11:25355836:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000022.11:25355836:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000022.11:25355836:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
Gene:: LRP5L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.4036/2021 (1000Genomes)
HGVS:: NC_000022.11:g.25355847_25355853del, NC_000022.11:g.25355849_25355853del, NC_000022.11:g.25355850_25355853del, NC_000022.11:g.25355851_25355853del, NC_000022.11:g.25355852_25355853del, NC_000022.11:g.25355853del, NC_000022.11:g.25355853dup, NC_000022.11:g.25355852_25355853dup, NC_000022.11:g.25355851_25355853dup, NC_000022.11:g.25355850_25355853dup, NC_000022.10:g.25751814_25751820del, NC_000022.10:g.25751816_25751820del, NC_000022.10:g.25751817_25751820del, NC_000022.10:g.25751818_25751820del, NC_000022.10:g.25751819_25751820del, NC_000022.10:g.25751820del, NC_000022.10:g.25751820dup, NC_000022.10:g.25751819_25751820dup, NC_000022.10:g.25751818_25751820dup, NC_000022.10:g.25751817_25751820dup

Select item 149098877014.

rs1490988770 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:25398451 (GRCh38)
22:25794418 (GRCh37)
Canonical SPDI:: NC_000022.11:25398450:G:A
Gene:: LRP5L (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000019/5 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000022.11:g.25398451G>A, NC_000022.10:g.25794418G>A

Select item 149094399815.

rs1490943998 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 22:25356894 (GRCh38)
22:25752861 (GRCh37)
Canonical SPDI:: NC_000022.11:25356893:C:G
Gene:: LRP5L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000022.11:g.25356894C>G, NC_000022.10:g.25752861C>G

Select item 149088596716.

rs1490885967 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 22:25374054 (GRCh38)
22:25770021 (GRCh37)
Canonical SPDI:: NC_000022.11:25374053:T:A
Gene:: LRP5L (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000022.11:g.25374054T>A, NC_000022.10:g.25770021T>A, XR_007068031.1:n.2229A>T, XR_007068030.1:n.1977A>T

Select item 149078837517.

rs1490788375 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 22:25380639 (GRCh38)
22:25776606 (GRCh37)
Canonical SPDI:: NC_000022.11:25380638:G:A,NC_000022.11:25380638:G:C
Gene:: LRP5L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.25380639G>A, NC_000022.11:g.25380639G>C, NC_000022.10:g.25776606G>A, NC_000022.10:g.25776606G>C

Select item 149076956218.

rs1490769562 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 22:25392292 (GRCh38)
22:25788259 (GRCh37)
Canonical SPDI:: NC_000022.11:25392291:C:A
Gene:: LRP5L (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.25392292C>A, NC_000022.10:g.25788259C>A

Select item 149074178719.

rs1490741787 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:25372842 (GRCh38)
22:25768809 (GRCh37)
Canonical SPDI:: NC_000022.11:25372841:G:A
Gene:: LRP5L (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000023/6 (TOPMED)
A=0.000035/1 (TOMMO)
A=0.000468/3 (1000Genomes)
HGVS:: NC_000022.11:g.25372842G>A, NC_000022.10:g.25768809G>A, XR_007068031.1:n.3441C>T, XR_007068030.1:n.3189C>T

Select item 149072195020.

rs1490721950 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:25366929 (GRCh38)
22:25762896 (GRCh37)
Canonical SPDI:: NC_000022.11:25366928:C:T
Gene:: LRP5L (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.25366929C>T, NC_000022.10:g.25762896C>T, XR_007068031.1:n.9354G>A, XR_007068030.1:n.9102G>A

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