SNP Links for Gene (Select 4054) - SNP

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Select item 14914790421.

rs1491479042 has merged into rs775859883 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 11:65542393 (GRCh38)
11:65309864 (GRCh37)
Canonical SPDI:: NC_000011.10:65542381:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000011.10:65542381:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000011.10:65542381:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000011.10:65542381:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000011.10:65542381:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000011.10:65542381:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000011.10:65542381:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000011.10:65542381:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000011.10:65542381:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000011.10:65542381:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000011.10:65542381:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:65542381:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:65542381:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:65542381:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:65542381:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:65542381:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:65542381:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:65542381:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:65542381:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:65542381:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:65542381:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:65542381:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:65542381:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:65542381:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:65542381:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:65542381:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:65542381:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:65542381:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:65542381:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:65542381:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: LTBP3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.65542393_65542406del, NC_000011.10:g.65542395_65542406del, NC_000011.10:g.65542396_65542406del, NC_000011.10:g.65542397_65542406del, NC_000011.10:g.65542398_65542406del, NC_000011.10:g.65542399_65542406del, NC_000011.10:g.65542400_65542406del, NC_000011.10:g.65542401_65542406del, NC_000011.10:g.65542402_65542406del, NC_000011.10:g.65542403_65542406del, NC_000011.10:g.65542404_65542406del, NC_000011.10:g.65542405_65542406del, NC_000011.10:g.65542406del, NC_000011.10:g.65542406dup, NC_000011.10:g.65542405_65542406dup, NC_000011.10:g.65542404_65542406dup, NC_000011.10:g.65542403_65542406dup, NC_000011.10:g.65542402_65542406dup, NC_000011.10:g.65542401_65542406dup, NC_000011.10:g.65542400_65542406dup, NC_000011.10:g.65542399_65542406dup, NC_000011.10:g.65542398_65542406dup, NC_000011.10:g.65542397_65542406dup, NC_000011.10:g.65542396_65542406dup, NC_000011.10:g.65542395_65542406dup, NC_000011.10:g.65542394_65542406dup, NC_000011.10:g.65542391_65542406dup, NC_000011.10:g.65542406_65542407insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.10:g.65542406_65542407insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.10:g.65542406_65542407insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.65309864_65309877del, NC_000011.9:g.65309866_65309877del, NC_000011.9:g.65309867_65309877del, NC_000011.9:g.65309868_65309877del, NC_000011.9:g.65309869_65309877del, NC_000011.9:g.65309870_65309877del, NC_000011.9:g.65309871_65309877del, NC_000011.9:g.65309872_65309877del, NC_000011.9:g.65309873_65309877del, NC_000011.9:g.65309874_65309877del, NC_000011.9:g.65309875_65309877del, NC_000011.9:g.65309876_65309877del, NC_000011.9:g.65309877del, NC_000011.9:g.65309877dup, NC_000011.9:g.65309876_65309877dup, NC_000011.9:g.65309875_65309877dup, NC_000011.9:g.65309874_65309877dup, NC_000011.9:g.65309873_65309877dup, NC_000011.9:g.65309872_65309877dup, NC_000011.9:g.65309871_65309877dup, NC_000011.9:g.65309870_65309877dup, NC_000011.9:g.65309869_65309877dup, NC_000011.9:g.65309868_65309877dup, NC_000011.9:g.65309867_65309877dup, NC_000011.9:g.65309866_65309877dup, NC_000011.9:g.65309865_65309877dup, NC_000011.9:g.65309862_65309877dup, NC_000011.9:g.65309877_65309878insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.65309877_65309878insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.65309877_65309878insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_016437.1:g.20834_20847del, NG_016437.1:g.20836_20847del, NG_016437.1:g.20837_20847del, NG_016437.1:g.20838_20847del, NG_016437.1:g.20839_20847del, NG_016437.1:g.20840_20847del, NG_016437.1:g.20841_20847del, NG_016437.1:g.20842_20847del, NG_016437.1:g.20843_20847del, NG_016437.1:g.20844_20847del, NG_016437.1:g.20845_20847del, NG_016437.1:g.20846_20847del, NG_016437.1:g.20847del, NG_016437.1:g.20847dup, NG_016437.1:g.20846_20847dup, NG_016437.1:g.20845_20847dup, NG_016437.1:g.20844_20847dup, NG_016437.1:g.20843_20847dup, NG_016437.1:g.20842_20847dup, NG_016437.1:g.20841_20847dup, NG_016437.1:g.20840_20847dup, NG_016437.1:g.20839_20847dup, NG_016437.1:g.20838_20847dup, NG_016437.1:g.20837_20847dup, NG_016437.1:g.20836_20847dup, NG_016437.1:g.20835_20847dup, NG_016437.1:g.20832_20847dup, NG_016437.1:g.20847_20848insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_016437.1:g.20847_20848insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_016437.1:g.20847_20848insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14914713412.

rs1491471341 [Homo sapiens]

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

Select item 14913067113.

rs1491306711 has merged into rs752434010 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 11:65549768 (GRCh38)
11:65317239 (GRCh37)
Canonical SPDI:: NC_000011.10:65549757:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000011.10:65549757:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000011.10:65549757:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000011.10:65549757:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000011.10:65549757:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:65549757:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:65549757:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:65549757:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000011.10:65549757:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000011.10:65549757:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000011.10:65549757:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000011.10:65549757:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:65549757:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:65549757:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:65549757:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:65549757:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:65549757:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: LTBP3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000011.10:g.65549768_65549777del, NC_000011.10:g.65549769_65549777del, NC_000011.10:g.65549770_65549777del, NC_000011.10:g.65549771_65549777del, NC_000011.10:g.65549772_65549777del, NC_000011.10:g.65549773_65549777del, NC_000011.10:g.65549774_65549777del, NC_000011.10:g.65549775_65549777del, NC_000011.10:g.65549776_65549777del, NC_000011.10:g.65549777del, NC_000011.10:g.65549777dup, NC_000011.10:g.65549776_65549777dup, NC_000011.10:g.65549775_65549777dup, NC_000011.10:g.65549774_65549777dup, NC_000011.10:g.65549773_65549777dup, NC_000011.10:g.65549769_65549777dup, NC_000011.10:g.65549768_65549777dup, NC_000011.9:g.65317239_65317248del, NC_000011.9:g.65317240_65317248del, NC_000011.9:g.65317241_65317248del, NC_000011.9:g.65317242_65317248del, NC_000011.9:g.65317243_65317248del, NC_000011.9:g.65317244_65317248del, NC_000011.9:g.65317245_65317248del, NC_000011.9:g.65317246_65317248del, NC_000011.9:g.65317247_65317248del, NC_000011.9:g.65317248del, NC_000011.9:g.65317248dup, NC_000011.9:g.65317247_65317248dup, NC_000011.9:g.65317246_65317248dup, NC_000011.9:g.65317245_65317248dup, NC_000011.9:g.65317244_65317248dup, NC_000011.9:g.65317240_65317248dup, NC_000011.9:g.65317239_65317248dup, NG_016437.1:g.13462_13471del, NG_016437.1:g.13463_13471del, NG_016437.1:g.13464_13471del, NG_016437.1:g.13465_13471del, NG_016437.1:g.13466_13471del, NG_016437.1:g.13467_13471del, NG_016437.1:g.13468_13471del, NG_016437.1:g.13469_13471del, NG_016437.1:g.13470_13471del, NG_016437.1:g.13471del, NG_016437.1:g.13471dup, NG_016437.1:g.13470_13471dup, NG_016437.1:g.13469_13471dup, NG_016437.1:g.13468_13471dup, NG_016437.1:g.13467_13471dup, NG_016437.1:g.13463_13471dup, NG_016437.1:g.13462_13471dup

Select item 14911795184.

rs1491179518 [Homo sapiens]

Variant type:: DEL
Alleles:: GG>- [Show Flanks]
Chromosome:: 11:65542972 (GRCh38)
11:65310443 (GRCh37)
Canonical SPDI:: NC_000011.10:65542971:GG:
Gene:: LTBP3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: -=0.000059/7 (GnomAD)
HGVS:: NC_000011.10:g.65542972_65542973del, NC_000011.9:g.65310443_65310444del, NG_016437.1:g.20256_20257del

Select item 14911600995.

rs1491160099 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GGATAGAT,GGATGGATAGAT [Show Flanks]
Chromosome:: 11:65542972 (GRCh38)
11:65310444 (GRCh37)
Canonical SPDI:: NC_000011.10:65542972:GAT:GATGGATAGAT,NC_000011.10:65542972:GAT:GATGGATGGATAGAT
Gene:: LTBP3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GATGGATGGATAGAT=0./0 (ALFA)
HGVS:: NC_000011.10:g.65542975_65542976insGGATAGAT, NC_000011.10:g.65542973_65542975GATG[2]GATAGAT[1], NC_000011.9:g.65310446_65310447insGGATAGAT, NC_000011.9:g.65310444_65310446GATG[2]GATAGAT[1], NG_016437.1:g.20256_20257insTATCCATC, NG_016437.1:g.20256_20257insTATCCATCCATC

Select item 14911407766.

rs1491140776 [Homo sapiens]

Variant type:: DEL
Alleles:: TC>- [Show Flanks]
Chromosome:: 11:65547875 (GRCh38)
11:65315346 (GRCh37)
Canonical SPDI:: NC_000011.10:65547874:TC:
Gene:: LTBP3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000007/1 (GnomAD)
-=0.000008/1 (ExAC)
-=0.000015/4 (TOPMED)
-=0.00008/1 (GoESP)
HGVS:: NC_000011.10:g.65547875_65547876del, NC_000011.9:g.65315346_65315347del, NG_016437.1:g.15353_15354del

Select item 14911302287.

rs1491130228 has merged into rs553808538 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA [Show Flanks]
Chromosome:: 11:65547359 (GRCh38)
11:65314830 (GRCh37)
Canonical SPDI:: NC_000011.10:65547348:AAAAAAAAAAAAA:AAAAAAAAAA,NC_000011.10:65547348:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000011.10:65547348:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000011.10:65547348:AAAAAAAAAAAAA:AAAAAAAAAAAAAA
Gene:: LTBP3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.024469/122 (1000Genomes)
HGVS:: NC_000011.10:g.65547359_65547361del, NC_000011.10:g.65547360_65547361del, NC_000011.10:g.65547361del, NC_000011.10:g.65547361dup, NC_000011.9:g.65314830_65314832del, NC_000011.9:g.65314831_65314832del, NC_000011.9:g.65314832del, NC_000011.9:g.65314832dup, NG_016437.1:g.15878_15880del, NG_016437.1:g.15879_15880del, NG_016437.1:g.15880del, NG_016437.1:g.15880dup

Select item 14910074078.

rs1491007407 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 11:65549779 (GRCh38)
11:65317250 (GRCh37)
Canonical SPDI:: NC_000011.10:65549776:AGAG:AG
Gene:: LTBP3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.65549777AG[1], NC_000011.9:g.65317248AG[1], NG_016437.1:g.13449CT[1]

Select item 14906898329.

rs1490689832 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 11:65541158 (GRCh38)
11:65308629 (GRCh37)
Canonical SPDI:: NC_000011.10:65541157:CA:
Gene:: LTBP3 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
HGVS:: NC_000011.10:g.65541158_65541159del, NC_000011.9:g.65308629_65308630del, NG_016437.1:g.22070_22071del, NM_021070.4:c.2860_2861del, NM_001130144.3:c.2860_2861del, NM_001130144.2:c.2860_2861del, NM_001164266.1:c.2509_2510del, NP_066548.2:p.Cys954fs, NP_001123616.1:p.Cys954fs, NP_001157738.1:p.Cys837fs

Select item 149044014210.

rs1490440142 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:65542936 (GRCh38)
11:65310407 (GRCh37)
Canonical SPDI:: NC_000011.10:65542935:G:A
Gene:: LTBP3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000084/1 (ALFA)
A=0.000025/3 (GnomAD)
HGVS:: NC_000011.10:g.65542936G>A, NC_000011.9:g.65310407G>A, NG_016437.1:g.20293C>T

Select item 149035990311.

rs1490359903 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 11:65547186 (GRCh38)
11:65314657 (GRCh37)
Canonical SPDI:: NC_000011.10:65547185:AAAAA:AAAA
Gene:: LTBP3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AAAA=0./0 (ALFA)
-=0./0 (GnomAD)
HGVS:: NC_000011.10:g.65547190del, NC_000011.9:g.65314661del, NG_016437.1:g.16043del

Select item 149033443812.

rs1490334438 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:65539694 (GRCh38)
11:65307165 (GRCh37)
Canonical SPDI:: NC_000011.10:65539693:G:A
Gene:: LTBP3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000011.10:g.65539694G>A, NC_000011.9:g.65307165G>A, NG_016437.1:g.23535C>T, NG_047172.1:g.19630G>A

Select item 149021349513.

rs1490213495 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:65558764 (GRCh38)
11:65326235 (GRCh37)
Canonical SPDI:: NC_000011.10:65558763:C:T
Gene:: LTBP3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000011.10:g.65558764C>T, NC_000011.9:g.65326235C>T, NG_016437.1:g.4465G>A

Select item 149020141014.

rs1490201410 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 11:65540173 (GRCh38)
11:65307644 (GRCh37)
Canonical SPDI:: NC_000011.10:65540172:G:A,NC_000011.10:65540172:G:T
Gene:: LTBP3 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: likely-benign
Validated:: by frequency
MAF:: A=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.65540173G>A, NC_000011.10:g.65540173G>T, NC_000011.9:g.65307644G>A, NC_000011.9:g.65307644G>T, NG_016437.1:g.23056C>T, NG_016437.1:g.23056C>A, NG_047172.1:g.20109G>A, NG_047172.1:g.20109G>T

Select item 149017285815.

rs1490172858 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 11:65551728 (GRCh38)
11:65319199 (GRCh37)
Canonical SPDI:: NC_000011.10:65551727:T:C,NC_000011.10:65551727:T:G
Gene:: LTBP3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000011.10:g.65551728T>C, NC_000011.10:g.65551728T>G, NC_000011.9:g.65319199T>C, NC_000011.9:g.65319199T>G, NG_016437.1:g.11501A>G, NG_016437.1:g.11501A>C

Select item 149008854016.

rs1490088540 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:65559287 (GRCh38)
11:65326758 (GRCh37)
Canonical SPDI:: NC_000011.10:65559286:G:T
Gene:: LTBP3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
T=0.000546/1 (Korea1K)
T=0.000566/9 (TOMMO)
T=0.009259/2 (Vietnamese)
HGVS:: NC_000011.10:g.65559287G>T, NC_000011.9:g.65326758G>T, NG_016437.1:g.3942C>A

Select item 149002479717.

rs1490024797 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:65549354 (GRCh38)
11:65316825 (GRCh37)
Canonical SPDI:: NC_000011.10:65549353:G:C
Gene:: LTBP3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.65549354G>C, NC_000011.9:g.65316825G>C, NG_016437.1:g.13875C>G

Select item 148994793518.

rs1489947935 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:65554425 (GRCh38)
11:65321896 (GRCh37)
Canonical SPDI:: NC_000011.10:65554424:T:C
Gene:: LTBP3 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000011.10:g.65554425T>C, NC_000011.9:g.65321896T>C, NG_016437.1:g.8804A>G

Select item 148993564219.

rs1489935642 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:65550406 (GRCh38)
11:65317877 (GRCh37)
Canonical SPDI:: NC_000011.10:65550405:C:T
Gene:: LTBP3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000035/1 (TOMMO)
T=0.000312/2 (1000Genomes)
HGVS:: NC_000011.10:g.65550406C>T, NC_000011.9:g.65317877C>T, NG_016437.1:g.12823G>A

Select item 148967841220.

rs1489678412 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:65538329 (GRCh38)
11:65305800 (GRCh37)
Canonical SPDI:: NC_000011.10:65538328:G:A
Gene:: LTBP3 (Varview), SCYL1 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.65538329G>A, NC_000011.9:g.65305800G>A, NG_016437.1:g.24900C>T, NG_047172.1:g.18265G>A

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