SNP Links for Gene (Select 3918) - SNP

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Select item 14915290541.

rs1491529054 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 1:183191857 (GRCh38)
1:183160993 (GRCh37)
Canonical SPDI:: NC_000001.11:183191857::A
Gene:: LAMC2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00002/2 (GnomAD)
A=0.00007/1 (TOMMO)
HGVS:: NC_000001.11:g.183191857_183191858insA, NC_000001.10:g.183160992_183160993insA, NG_007079.2:g.10594_10595insA

Select item 14915109602.

rs1491510960 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CA [Show Flanks]
Chromosome:: 1:183202224 (GRCh38)
1:183171360 (GRCh37)
Canonical SPDI:: NC_000001.11:183202224:A:ACA
Gene:: LAMC2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACA=0.001517/18 (ALFA)
AC=0.001831/233 (GnomAD)
HGVS:: NC_000001.11:g.183202225_183202226insCA, NC_000001.10:g.183171360_183171361insCA, NG_007079.2:g.20962_20963insCA

Select item 14914744603.

rs1491474460 has merged into rs201843893 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:183197687 (GRCh38)
1:183166822 (GRCh37)
Canonical SPDI:: NC_000001.11:183197675:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:183197675:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:183197675:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:183197675:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:183197675:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:183197675:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:183197675:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:183197675:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
Gene:: LAMC2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.3488/1747 (1000Genomes)
HGVS:: NC_000001.11:g.183197687_183197690del, NC_000001.11:g.183197688_183197690del, NC_000001.11:g.183197689_183197690del, NC_000001.11:g.183197690del, NC_000001.11:g.183197690dup, NC_000001.11:g.183197689_183197690dup, NC_000001.11:g.183197688_183197690dup, NC_000001.11:g.183197683_183197690dup, NC_000001.10:g.183166822_183166825del, NC_000001.10:g.183166823_183166825del, NC_000001.10:g.183166824_183166825del, NC_000001.10:g.183166825del, NC_000001.10:g.183166825dup, NC_000001.10:g.183166824_183166825dup, NC_000001.10:g.183166823_183166825dup, NC_000001.10:g.183166818_183166825dup, NG_007079.2:g.16424_16427del, NG_007079.2:g.16425_16427del, NG_007079.2:g.16426_16427del, NG_007079.2:g.16427del, NG_007079.2:g.16427dup, NG_007079.2:g.16426_16427dup, NG_007079.2:g.16425_16427dup, NG_007079.2:g.16420_16427dup

Select item 14914443564.

rs1491444356 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:183197675 (GRCh38)
1:183166810 (GRCh37)
Canonical SPDI:: NC_000001.11:183197674:CA:
Gene:: LAMC2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00025/3 (ALFA)
HGVS:: NC_000001.11:g.183197675_183197676del, NC_000001.10:g.183166810_183166811del, NG_007079.2:g.16412_16413del

Select item 14914145535.

rs1491414553 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GT [Show Flanks]
Chromosome:: 1:183207836 (GRCh38)
1:183176972 (GRCh37)
Canonical SPDI:: NC_000001.11:183207836:T:TGT
Gene:: LAMC2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGT=0./0 (ALFA)
TG=0.000004/1 (TOPMED)
TG=0.000089/2 (GnomAD)
TG=0.000123/5 (GnomAD_exomes)
TG=0.053191/5 (ExAC)
HGVS:: NC_000001.11:g.183207837_183207838insGT, NC_000001.10:g.183176972_183176973insGT, NG_007079.2:g.26574_26575insGT

Select item 14913707286.

rs1491370728 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,AA [Show Flanks]
Chromosome:: 1:183187501 (GRCh38)
1:183156637 (GRCh37)
Canonical SPDI:: NC_000001.11:183187501::A,NC_000001.11:183187501::AA
Gene:: LAMC2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.00188/179 (GnomAD)
HGVS:: NC_000001.11:g.183187501_183187502insA, NC_000001.11:g.183187501_183187502insAA, NC_000001.10:g.183156636_183156637insA, NC_000001.10:g.183156636_183156637insAA, NG_007079.2:g.6238_6239insA, NG_007079.2:g.6238_6239insAA

Select item 14913419347.

rs1491341934 has merged into rs199561774 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA [Show Flanks]
Chromosome:: 1:183202234 (GRCh38)
1:183171369 (GRCh37)
Canonical SPDI:: NC_000001.11:183202223:AAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:183202223:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:183202223:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:183202223:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:183202223:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:183202223:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:183202223:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA
Gene:: LAMC2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.00003/8 (TOPMED)
A=0.025168/15 (NorthernSweden)
A=0.05/2 (GENOME_DK)
HGVS:: NC_000001.11:g.183202234_183202236del, NC_000001.11:g.183202235_183202236del, NC_000001.11:g.183202236del, NC_000001.11:g.183202236dup, NC_000001.11:g.183202235_183202236dup, NC_000001.11:g.183202234_183202236dup, NC_000001.11:g.183202233_183202236dup, NC_000001.10:g.183171369_183171371del, NC_000001.10:g.183171370_183171371del, NC_000001.10:g.183171371del, NC_000001.10:g.183171371dup, NC_000001.10:g.183171370_183171371dup, NC_000001.10:g.183171369_183171371dup, NC_000001.10:g.183171368_183171371dup, NG_007079.2:g.20971_20973del, NG_007079.2:g.20972_20973del, NG_007079.2:g.20973del, NG_007079.2:g.20973dup, NG_007079.2:g.20972_20973dup, NG_007079.2:g.20971_20973dup, NG_007079.2:g.20970_20973dup

Select item 14913298188.

rs1491329818 has merged into rs79056040 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,A,AA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA [Show Flanks]
Chromosome:: 1:183204465 (GRCh38)
1:183173600 (GRCh37)
Canonical SPDI:: NC_000001.11:183204455:AAAAAAAAAAAAAAA:AAAAAAAAA,NC_000001.11:183204455:AAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:183204455:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:183204455:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:183204455:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:183204455:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:183204455:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:183204455:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
Gene:: LAMC2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000001.11:g.183204465_183204470del, NC_000001.11:g.183204466_183204470del, NC_000001.11:g.183204467_183204470del, NC_000001.11:g.183204469_183204470del, NC_000001.11:g.183204470del, NC_000001.11:g.183204470dup, NC_000001.11:g.183204469_183204470dup, NC_000001.11:g.183204467_183204470dup, NC_000001.10:g.183173600_183173605del, NC_000001.10:g.183173601_183173605del, NC_000001.10:g.183173602_183173605del, NC_000001.10:g.183173604_183173605del, NC_000001.10:g.183173605del, NC_000001.10:g.183173605dup, NC_000001.10:g.183173604_183173605dup, NC_000001.10:g.183173602_183173605dup, NG_007079.2:g.23202_23207del, NG_007079.2:g.23203_23207del, NG_007079.2:g.23204_23207del, NG_007079.2:g.23206_23207del, NG_007079.2:g.23207del, NG_007079.2:g.23207dup, NG_007079.2:g.23206_23207dup, NG_007079.2:g.23204_23207dup

Select item 14913134289.

rs1491313428 has merged into rs78166475 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT [Show Flanks]
Chromosome:: 1:183208998 (GRCh38)
1:183178133 (GRCh37)
Canonical SPDI:: NC_000001.11:183208983:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:183208983:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:183208983:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:183208983:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:183208983:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:183208983:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:183208983:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:183208983:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT
Gene:: LAMC2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTT=0./0 (ALFA)
T=0.07/42 (NorthernSweden)
HGVS:: NC_000001.11:g.183208998_183209000del, NC_000001.11:g.183208999_183209000del, NC_000001.11:g.183209000del, NC_000001.11:g.183209000dup, NC_000001.11:g.183208999_183209000dup, NC_000001.11:g.183208998_183209000dup, NC_000001.11:g.183208997_183209000dup, NC_000001.11:g.183208996_183209000dup, NC_000001.10:g.183178133_183178135del, NC_000001.10:g.183178134_183178135del, NC_000001.10:g.183178135del, NC_000001.10:g.183178135dup, NC_000001.10:g.183178134_183178135dup, NC_000001.10:g.183178133_183178135dup, NC_000001.10:g.183178132_183178135dup, NC_000001.10:g.183178131_183178135dup, NG_007079.2:g.27735_27737del, NG_007079.2:g.27736_27737del, NG_007079.2:g.27737del, NG_007079.2:g.27737dup, NG_007079.2:g.27736_27737dup, NG_007079.2:g.27735_27737dup, NG_007079.2:g.27734_27737dup, NG_007079.2:g.27733_27737dup

Select item 149129510410.

rs1491295104 has merged into rs10668798 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTT>-,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:183207843 (GRCh38)
1:183176978 (GRCh37)
Canonical SPDI:: NC_000001.11:183207835:TTTTTTTTTTTTTTT:TTTTTTT,NC_000001.11:183207835:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:183207835:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:183207835:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:183207835:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:183207835:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:183207835:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:183207835:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:183207835:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:183207835:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:183207835:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:183207835:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:183207835:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT
Gene:: LAMC2 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
-=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.183207843_183207850del, NC_000001.11:g.183207847_183207850del, NC_000001.11:g.183207848_183207850del, NC_000001.11:g.183207849_183207850del, NC_000001.11:g.183207850del, NC_000001.11:g.183207850dup, NC_000001.11:g.183207849_183207850dup, NC_000001.11:g.183207848_183207850dup, NC_000001.11:g.183207847_183207850dup, NC_000001.11:g.183207846_183207850dup, NC_000001.11:g.183207845_183207850dup, NC_000001.11:g.183207844_183207850dup, NC_000001.11:g.183207843_183207850dup, NC_000001.10:g.183176978_183176985del, NC_000001.10:g.183176982_183176985del, NC_000001.10:g.183176983_183176985del, NC_000001.10:g.183176984_183176985del, NC_000001.10:g.183176985del, NC_000001.10:g.183176985dup, NC_000001.10:g.183176984_183176985dup, NC_000001.10:g.183176983_183176985dup, NC_000001.10:g.183176982_183176985dup, NC_000001.10:g.183176981_183176985dup, NC_000001.10:g.183176980_183176985dup, NC_000001.10:g.183176979_183176985dup, NC_000001.10:g.183176978_183176985dup, NG_007079.2:g.26580_26587del, NG_007079.2:g.26584_26587del, NG_007079.2:g.26585_26587del, NG_007079.2:g.26586_26587del, NG_007079.2:g.26587del, NG_007079.2:g.26587dup, NG_007079.2:g.26586_26587dup, NG_007079.2:g.26585_26587dup, NG_007079.2:g.26584_26587dup, NG_007079.2:g.26583_26587dup, NG_007079.2:g.26582_26587dup, NG_007079.2:g.26581_26587dup, NG_007079.2:g.26580_26587dup

Select item 149127941311.

rs1491279413 [Homo sapiens]

Variant type:: DEL
Alleles:: CC>- [Show Flanks]
Chromosome:: 1:183187501 (GRCh38)
1:183156636 (GRCh37)
Canonical SPDI:: NC_000001.11:183187500:CC:
Gene:: LAMC2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00006/1 (ALFA)
HGVS:: NC_000001.11:g.183187501_183187502del, NC_000001.10:g.183156636_183156637del, NG_007079.2:g.6238_6239del

Select item 149125970512.

rs1491259705 [Homo sapiens]

Variant type:: DEL
Alleles:: TC>- [Show Flanks]
Chromosome:: 1:183191857 (GRCh38)
1:183160992 (GRCh37)
Canonical SPDI:: NC_000001.11:183191856:TC:
Gene:: LAMC2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.0002/1 (ALFA)
HGVS:: NC_000001.11:g.183191857_183191858del, NC_000001.10:g.183160992_183160993del, NG_007079.2:g.10594_10595del

Select item 149124824213.

rs1491248242 has merged into rs112301239 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAA>-,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:183194258 (GRCh38)
1:183163393 (GRCh37)
Canonical SPDI:: NC_000001.11:183194250:AAAAAAAAAAAAAAAAA:AAAAAAA,NC_000001.11:183194250:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:183194250:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:183194250:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:183194250:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:183194250:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:183194250:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:183194250:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
Gene:: LAMC2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
-=0.36142/1810 (1000Genomes)
-=0.475/19 (GENOME_DK)
HGVS:: NC_000001.11:g.183194258_183194267del, NC_000001.11:g.183194264_183194267del, NC_000001.11:g.183194265_183194267del, NC_000001.11:g.183194266_183194267del, NC_000001.11:g.183194267del, NC_000001.11:g.183194267dup, NC_000001.11:g.183194266_183194267dup, NC_000001.11:g.183194262_183194267dup, NC_000001.10:g.183163393_183163402del, NC_000001.10:g.183163399_183163402del, NC_000001.10:g.183163400_183163402del, NC_000001.10:g.183163401_183163402del, NC_000001.10:g.183163402del, NC_000001.10:g.183163402dup, NC_000001.10:g.183163401_183163402dup, NC_000001.10:g.183163397_183163402dup, NG_007079.2:g.12995_13004del, NG_007079.2:g.13001_13004del, NG_007079.2:g.13002_13004del, NG_007079.2:g.13003_13004del, NG_007079.2:g.13004del, NG_007079.2:g.13004dup, NG_007079.2:g.13003_13004dup, NG_007079.2:g.12999_13004dup

Select item 149123509014.

rs1491235090 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:183236388 (GRCh38)
1:183205523 (GRCh37)
Canonical SPDI:: NC_000001.11:183236387:CA:
Gene:: LAMC2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
HGVS:: NC_000001.11:g.183236388_183236389del, NC_000001.10:g.183205523_183205524del, NG_007079.2:g.55125_55126del

Select item 149122981515.

rs1491229815 [Homo sapiens]

Variant type:: DEL
Alleles:: AC>- [Show Flanks]
Chromosome:: 1:183207852 (GRCh38)
1:183176987 (GRCh37)
Canonical SPDI:: NC_000001.11:183207851:AC:
Gene:: LAMC2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: -=0.00002/1 (ExAC)
HGVS:: NC_000001.11:g.183207852_183207853del, NC_000001.10:g.183176987_183176988del, NG_007079.2:g.26589_26590del

Select item 149120787316.

rs1491207873 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 1:183194250 (GRCh38)
1:183163385 (GRCh37)
Canonical SPDI:: NC_000001.11:183194249:GA:
Gene:: LAMC2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000001.11:g.183194250_183194251del, NC_000001.10:g.183163385_183163386del, NG_007079.2:g.12987_12988del

Select item 149110298217.

rs1491102982 has merged into rs34154823 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:183236398 (GRCh38)
1:183205533 (GRCh37)
Canonical SPDI:: NC_000001.11:183236388:AAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000001.11:183236388:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:183236388:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:183236388:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:183236388:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:183236388:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:183236388:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:183236388:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:183236388:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: LAMC2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
AA=0.3329/1667 (1000Genomes)
HGVS:: NC_000001.11:g.183236398_183236406del, NC_000001.11:g.183236401_183236406del, NC_000001.11:g.183236402_183236406del, NC_000001.11:g.183236403_183236406del, NC_000001.11:g.183236404_183236406del, NC_000001.11:g.183236405_183236406del, NC_000001.11:g.183236406del, NC_000001.11:g.183236406dup, NC_000001.11:g.183236399_183236406dup, NC_000001.10:g.183205533_183205541del, NC_000001.10:g.183205536_183205541del, NC_000001.10:g.183205537_183205541del, NC_000001.10:g.183205538_183205541del, NC_000001.10:g.183205539_183205541del, NC_000001.10:g.183205540_183205541del, NC_000001.10:g.183205541del, NC_000001.10:g.183205541dup, NC_000001.10:g.183205534_183205541dup, NG_007079.2:g.55135_55143del, NG_007079.2:g.55138_55143del, NG_007079.2:g.55139_55143del, NG_007079.2:g.55140_55143del, NG_007079.2:g.55141_55143del, NG_007079.2:g.55142_55143del, NG_007079.2:g.55143del, NG_007079.2:g.55143dup, NG_007079.2:g.55136_55143dup

Select item 149104917918.

rs1491049179 has merged into rs11386933 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAAAA [Show Flanks]
Chromosome:: 1:183187514 (GRCh38)
1:183156649 (GRCh37)
Canonical SPDI:: NC_000001.11:183187502:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:183187502:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:183187502:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:183187502:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:183187502:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:183187502:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:183187502:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
Gene:: LAMC2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
A=0.4095/2051 (1000Genomes)
HGVS:: NC_000001.11:g.183187514_183187516del, NC_000001.11:g.183187515_183187516del, NC_000001.11:g.183187516del, NC_000001.11:g.183187516dup, NC_000001.11:g.183187515_183187516dup, NC_000001.11:g.183187514_183187516dup, NC_000001.11:g.183187511_183187516dup, NC_000001.10:g.183156649_183156651del, NC_000001.10:g.183156650_183156651del, NC_000001.10:g.183156651del, NC_000001.10:g.183156651dup, NC_000001.10:g.183156650_183156651dup, NC_000001.10:g.183156649_183156651dup, NC_000001.10:g.183156646_183156651dup, NG_007079.2:g.6251_6253del, NG_007079.2:g.6252_6253del, NG_007079.2:g.6253del, NG_007079.2:g.6253dup, NG_007079.2:g.6252_6253dup, NG_007079.2:g.6251_6253dup, NG_007079.2:g.6248_6253dup

Select item 149094286419.

rs1490942864 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:183194394 (GRCh38)
1:183163529 (GRCh37)
Canonical SPDI:: NC_000001.11:183194393:C:T
Gene:: LAMC2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.183194394C>T, NC_000001.10:g.183163529C>T, NG_007079.2:g.13131C>T

Select item 149092300820.

rs1490923008 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 1:183209759 (GRCh38)
1:183178895 (GRCh37)
Canonical SPDI:: NC_000001.11:183209759:TT:TTT
Gene:: LAMC2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTT=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.183209761dup, NC_000001.10:g.183178896dup, NG_007079.2:g.28498dup

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