SNP Links for Gene (Select 84467) - SNP

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Select item 14915777621.

rs1491577762 has merged into rs869084219 [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,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 19:8119824 (GRCh38)
19:8184708 (GRCh37)
Canonical SPDI:: NC_000019.10:8119813:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000019.10:8119813:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:8119813:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:8119813:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:8119813:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:8119813:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:8119813:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:8119813:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:8119813:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:8119813:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:8119813:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:8119813:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:8119813:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:8119813:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:8119813:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:8119813:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:8119813:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:8119813:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:8119813:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:8119813:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:8119813:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:8119813:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:8119813:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:8119813:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:8119813:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:8119813:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:8119813:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:8119813:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: FBN3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000019.10:g.8119824_8119838del, NC_000019.10:g.8119825_8119838del, NC_000019.10:g.8119826_8119838del, NC_000019.10:g.8119827_8119838del, NC_000019.10:g.8119828_8119838del, NC_000019.10:g.8119829_8119838del, NC_000019.10:g.8119830_8119838del, NC_000019.10:g.8119831_8119838del, NC_000019.10:g.8119832_8119838del, NC_000019.10:g.8119833_8119838del, NC_000019.10:g.8119834_8119838del, NC_000019.10:g.8119835_8119838del, NC_000019.10:g.8119836_8119838del, NC_000019.10:g.8119837_8119838del, NC_000019.10:g.8119838del, NC_000019.10:g.8119838dup, NC_000019.10:g.8119837_8119838dup, NC_000019.10:g.8119836_8119838dup, NC_000019.10:g.8119835_8119838dup, NC_000019.10:g.8119834_8119838dup, NC_000019.10:g.8119833_8119838dup, NC_000019.10:g.8119832_8119838dup, NC_000019.10:g.8119831_8119838dup, NC_000019.10:g.8119830_8119838dup, NC_000019.10:g.8119828_8119838dup, NC_000019.10:g.8119822_8119838dup, NC_000019.10:g.8119838_8119839insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.8119838_8119839insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.8184708_8184722del, NC_000019.9:g.8184709_8184722del, NC_000019.9:g.8184710_8184722del, NC_000019.9:g.8184711_8184722del, NC_000019.9:g.8184712_8184722del, NC_000019.9:g.8184713_8184722del, NC_000019.9:g.8184714_8184722del, NC_000019.9:g.8184715_8184722del, NC_000019.9:g.8184716_8184722del, NC_000019.9:g.8184717_8184722del, NC_000019.9:g.8184718_8184722del, NC_000019.9:g.8184719_8184722del, NC_000019.9:g.8184720_8184722del, NC_000019.9:g.8184721_8184722del, NC_000019.9:g.8184722del, NC_000019.9:g.8184722dup, NC_000019.9:g.8184721_8184722dup, NC_000019.9:g.8184720_8184722dup, NC_000019.9:g.8184719_8184722dup, NC_000019.9:g.8184718_8184722dup, NC_000019.9:g.8184717_8184722dup, NC_000019.9:g.8184716_8184722dup, NC_000019.9:g.8184715_8184722dup, NC_000019.9:g.8184714_8184722dup, NC_000019.9:g.8184712_8184722dup, NC_000019.9:g.8184706_8184722dup, NC_000019.9:g.8184722_8184723insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.8184722_8184723insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14915677212.

rs1491567721 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 19:8087598 (GRCh38)
19:8152482 (GRCh37)
Canonical SPDI:: NC_000019.10:8087597:AT:
Gene:: FBN3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.8087598_8087599del, NC_000019.9:g.8152482_8152483del

Select item 14915247993.

rs1491524799 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 19:8070317 (GRCh38)
19:8135201 (GRCh37)
Canonical SPDI:: NC_000019.10:8070314:ATAT:AT
Gene:: FBN3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ATAT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.8070315AT[1], NC_000019.9:g.8135199AT[1]

Select item 14915221264.

rs1491522126 has merged into rs1555725584 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,TT,TTT,TTTTT,TTTTTT,TTTTTTT [Show Flanks]
Chromosome:: 19:8078802 (GRCh38)
19:8143686 (GRCh37)
Canonical SPDI:: NC_000019.10:8078791:TTTTTTTTTTTTTT:TTTTTTTTTT,NC_000019.10:8078791:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:8078791:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:8078791:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:8078791:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:8078791:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT
Gene:: FBN3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
TT=0.17618/679 (ALSPAC)
TT=0.22276/826 (TWINSUK)
HGVS:: NC_000019.10:g.8078802_8078805del, NC_000019.10:g.8078804_8078805del, NC_000019.10:g.8078805del, NC_000019.10:g.8078805dup, NC_000019.10:g.8078804_8078805dup, NC_000019.10:g.8078803_8078805dup, NC_000019.9:g.8143686_8143689del, NC_000019.9:g.8143688_8143689del, NC_000019.9:g.8143689del, NC_000019.9:g.8143689dup, NC_000019.9:g.8143688_8143689dup, NC_000019.9:g.8143687_8143689dup

Select item 14915197975.

rs1491519797 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>-,GAGA [Show Flanks]
Chromosome:: 19:8130624 (GRCh38)
19:8195508 (GRCh37)
Canonical SPDI:: NC_000019.10:8130622:AGA:A,NC_000019.10:8130622:AGA:AGAGA
Gene:: FBN3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AGAGA=0./0 (ALFA)
HGVS:: NC_000019.10:g.8130624_8130625del, NC_000019.10:g.8130624_8130625dup, NC_000019.9:g.8195508_8195509del, NC_000019.9:g.8195508_8195509dup

Select item 14914790016.

rs1491479001 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTGAATGAATGAGCCAGTGA [Show Flanks]
Chromosome:: 19:8088881 (GRCh38)
19:8153766 (GRCh37)
Canonical SPDI:: NC_000019.10:8088881:AGTGAGTGAATGAATGAGCCAGTGA:AGTGAGTGAATGAATGAGCCAGTGAGTGAATGAATGAGCCAGTGA
Gene:: FBN3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AGTGAGTGAATGAATGAGCCAGTGAGTGAATGAATGAGCCAGTGA=0./0 (ALFA)
AGTGAGTGAATGAATGAGCC=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.8088887_8088906dup, NC_000019.9:g.8153771_8153790dup

Select item 14914533157.

rs1491453315 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 19:8143776 (GRCh38)
19:8208660 (GRCh37)
Canonical SPDI:: NC_000019.10:8143774:GAG:G
Gene:: FBN3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by cluster
HGVS:: NC_000019.10:g.8143776_8143777del, NC_000019.9:g.8208660_8208661del

Select item 14914192198.

rs1491419219 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 19:8119813 (GRCh38)
19:8184697 (GRCh37)
Canonical SPDI:: NC_000019.10:8119812:CT:
Gene:: FBN3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000019.10:g.8119813_8119814del, NC_000019.9:g.8184697_8184698del

Select item 14914191059.

rs1491419105 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 19:8130632 (GRCh38)
19:8195516 (GRCh37)
Canonical SPDI:: NC_000019.10:8130630:AGA:A
Gene:: FBN3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000019.10:g.8130632_8130633del, NC_000019.9:g.8195516_8195517del

Select item 149141153810.

rs1491411538 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G,GAAAGG,GAAGGAAGGAAGGAAGGG,GAAGGAAGGAAGGG,GG [Show Flanks]
Chromosome:: 19:8130623 (GRCh38)
19:8195508 (GRCh37)
Canonical SPDI:: NC_000019.10:8130623:G:GG,NC_000019.10:8130623:G:GGAAAGG,NC_000019.10:8130623:G:GGAAGGAAGGAAGGAAGGG,NC_000019.10:8130623:G:GGAAGGAAGGAAGGG,NC_000019.10:8130623:G:GGG
Gene:: FBN3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGG=0./0 (ALFA)
GGAAGGAAGGAAGGAAGG=0.00012/2 (GnomAD)
G=0.0063/3 (NorthernSweden)
HGVS:: NC_000019.10:g.8130624dup, NC_000019.10:g.8130624_8130625insGAAAGG, NC_000019.10:g.8130624GGAA[4]GGG[1], NC_000019.10:g.8130624GGAA[3]GGG[1], NC_000019.10:g.8130624_8130625insGG, NC_000019.9:g.8195508dup, NC_000019.9:g.8195508_8195509insGAAAGG, NC_000019.9:g.8195508GGAA[4]GGG[1], NC_000019.9:g.8195508GGAA[3]GGG[1], NC_000019.9:g.8195508_8195509insGG

Select item 149137199611.

rs1491371996 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 19:8130620 (GRCh38)
19:8195504 (GRCh37)
Canonical SPDI:: NC_000019.10:8130618:AGA:A
Gene:: FBN3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.00025/3 (ALFA)
HGVS:: NC_000019.10:g.8130620_8130621del, NC_000019.9:g.8195504_8195505del

Select item 149137100512.

rs1491371005 [Homo sapiens]

Variant type:: INS
Alleles:: ->AA [Show Flanks]
Chromosome:: 19:8086130 (GRCh38)
19:8151015 (GRCh37)
Canonical SPDI:: NC_000019.10:8086130::AA
Gene:: FBN3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: AA=0./0 (GnomAD)
HGVS:: NC_000019.10:g.8086130_8086131insAA, NC_000019.9:g.8151014_8151015insAA

Select item 149136048313.

rs1491360483 has merged into rs536973519 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>-,G,GGG [Show Flanks]
Chromosome:: 19:8086136 (GRCh38)
19:8151020 (GRCh37)
Canonical SPDI:: NC_000019.10:8086129:GGGGGGGG:GGGGGG,NC_000019.10:8086129:GGGGGGGG:GGGGGGG,NC_000019.10:8086129:GGGGGGGG:GGGGGGGGG
Gene:: FBN3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGG=0./0 (ALFA)
-=0.00004/1 (TOMMO)
-=0.02296/115 (1000Genomes)
HGVS:: NC_000019.10:g.8086136_8086137del, NC_000019.10:g.8086137del, NC_000019.10:g.8086137dup, NC_000019.9:g.8151020_8151021del, NC_000019.9:g.8151021del, NC_000019.9:g.8151021dup

Select item 149135259114.

rs1491352591 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 19:8130636 (GRCh38)
19:8195520 (GRCh37)
Canonical SPDI:: NC_000019.10:8130634:AGA:A
Gene:: FBN3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00489/58 (ALFA)
-=0.00057/1 (GnomAD)
HGVS:: NC_000019.10:g.8130636_8130637del, NC_000019.9:g.8195520_8195521del

Select item 149133891615.

rs1491338916 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 19:8145680 (GRCh38)
19:8210564 (GRCh37)
Canonical SPDI:: NC_000019.10:8145679:CA:
Gene:: FBN3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00363/43 (ALFA)
HGVS:: NC_000019.10:g.8145680_8145681del, NC_000019.9:g.8210564_8210565del

Select item 149133630516.

rs1491336305 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 19:8088882 (GRCh38)
19:8153766 (GRCh37)
Canonical SPDI:: NC_000019.10:8088880:GAG:G
Gene:: FBN3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.8088882_8088883del, NC_000019.9:g.8153766_8153767del

Select item 149131086017.

rs1491310860 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 19:8068404 (GRCh38)
19:8133288 (GRCh37)
Canonical SPDI:: NC_000019.10:8068403:AT:
Gene:: FBN3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.8068404_8068405del, NC_000019.9:g.8133288_8133289del

Select item 149128199818.

rs1491281998 has merged into rs34470005 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA [Show Flanks]
Chromosome:: 19:8113852 (GRCh38)
19:8178736 (GRCh37)
Canonical SPDI:: NC_000019.10:8113841:AAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000019.10:8113841:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:8113841:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:8113841:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:8113841:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:8113841:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:8113841:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:8113841:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:8113841:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:8113841:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:8113841:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:8113841:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
Gene:: FBN3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000019.10:g.8113852_8113858del, NC_000019.10:g.8113853_8113858del, NC_000019.10:g.8113854_8113858del, NC_000019.10:g.8113855_8113858del, NC_000019.10:g.8113856_8113858del, NC_000019.10:g.8113857_8113858del, NC_000019.10:g.8113858del, NC_000019.10:g.8113858dup, NC_000019.10:g.8113857_8113858dup, NC_000019.10:g.8113856_8113858dup, NC_000019.10:g.8113855_8113858dup, NC_000019.10:g.8113854_8113858dup, NC_000019.9:g.8178736_8178742del, NC_000019.9:g.8178737_8178742del, NC_000019.9:g.8178738_8178742del, NC_000019.9:g.8178739_8178742del, NC_000019.9:g.8178740_8178742del, NC_000019.9:g.8178741_8178742del, NC_000019.9:g.8178742del, NC_000019.9:g.8178742dup, NC_000019.9:g.8178741_8178742dup, NC_000019.9:g.8178740_8178742dup, NC_000019.9:g.8178739_8178742dup, NC_000019.9:g.8178738_8178742dup

Select item 149127161519.

rs1491271615 has merged into rs35631767 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 19:8087611 (GRCh38)
19:8152495 (GRCh37)
Canonical SPDI:: NC_000019.10:8087598:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:8087598:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:8087598:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:8087598:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:8087598:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:8087598:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:8087598:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:8087598:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:8087598:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:8087598:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:8087598:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:8087598:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:8087598:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:8087598:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:8087598:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:8087598:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:8087598:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:8087598:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:8087598:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:8087598:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:8087598:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:8087598:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:8087598:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:8087598:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:8087598:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:8087598:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: FBN3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000019.10:g.8087611_8087623del, NC_000019.10:g.8087613_8087623del, NC_000019.10:g.8087614_8087623del, NC_000019.10:g.8087615_8087623del, NC_000019.10:g.8087616_8087623del, NC_000019.10:g.8087617_8087623del, NC_000019.10:g.8087618_8087623del, NC_000019.10:g.8087619_8087623del, NC_000019.10:g.8087620_8087623del, NC_000019.10:g.8087621_8087623del, NC_000019.10:g.8087622_8087623del, NC_000019.10:g.8087623del, NC_000019.10:g.8087623dup, NC_000019.10:g.8087622_8087623dup, NC_000019.10:g.8087621_8087623dup, NC_000019.10:g.8087620_8087623dup, NC_000019.10:g.8087619_8087623dup, NC_000019.10:g.8087618_8087623dup, NC_000019.10:g.8087617_8087623dup, NC_000019.10:g.8087615_8087623dup, NC_000019.10:g.8087601_8087623dup, NC_000019.10:g.8087623_8087624insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.8087623_8087624insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.8087623_8087624insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.8087623_8087624insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.8087623_8087624insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.8152495_8152507del, NC_000019.9:g.8152497_8152507del, NC_000019.9:g.8152498_8152507del, NC_000019.9:g.8152499_8152507del, NC_000019.9:g.8152500_8152507del, NC_000019.9:g.8152501_8152507del, NC_000019.9:g.8152502_8152507del, NC_000019.9:g.8152503_8152507del, NC_000019.9:g.8152504_8152507del, NC_000019.9:g.8152505_8152507del, NC_000019.9:g.8152506_8152507del, NC_000019.9:g.8152507del, NC_000019.9:g.8152507dup, NC_000019.9:g.8152506_8152507dup, NC_000019.9:g.8152505_8152507dup, NC_000019.9:g.8152504_8152507dup, NC_000019.9:g.8152503_8152507dup, NC_000019.9:g.8152502_8152507dup, NC_000019.9:g.8152501_8152507dup, NC_000019.9:g.8152499_8152507dup, NC_000019.9:g.8152485_8152507dup, NC_000019.9:g.8152507_8152508insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.8152507_8152508insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.8152507_8152508insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.8152507_8152508insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.8152507_8152508insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149125914320.

rs1491259143 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 19:8130628 (GRCh38)
19:8195512 (GRCh37)
Canonical SPDI:: NC_000019.10:8130626:AGA:A
Gene:: FBN3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.00202/24 (ALFA)
HGVS:: NC_000019.10:g.8130628_8130629del, NC_000019.9:g.8195512_8195513del

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