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Select item 14915829541.

rs1491582954 has merged into rs60214148 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAA>-,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:112180931 (GRCh38)
2:112938508 (GRCh37)
Canonical SPDI:: NC_000002.12:112180922:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000002.12:112180922:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:112180922:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:112180922:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:112180922:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:112180922:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:112180922:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:112180922:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:112180922:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:112180922:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:112180922:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:112180922:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:112180922:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:112180922:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:112180922:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:112180922:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:112180922:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:112180922:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:112180922:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:112180922:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:112180922:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:112180922:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:112180922:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:112180922:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:112180922:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:112180922:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:112180922:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:112180922:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: FBLN7 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
HGVS:: NC_000002.12:g.112180931_112180945del, NC_000002.12:g.112180935_112180945del, NC_000002.12:g.112180936_112180945del, NC_000002.12:g.112180937_112180945del, NC_000002.12:g.112180938_112180945del, NC_000002.12:g.112180939_112180945del, NC_000002.12:g.112180940_112180945del, NC_000002.12:g.112180941_112180945del, NC_000002.12:g.112180942_112180945del, NC_000002.12:g.112180943_112180945del, NC_000002.12:g.112180944_112180945del, NC_000002.12:g.112180945del, NC_000002.12:g.112180945dup, NC_000002.12:g.112180944_112180945dup, NC_000002.12:g.112180943_112180945dup, NC_000002.12:g.112180942_112180945dup, NC_000002.12:g.112180941_112180945dup, NC_000002.12:g.112180940_112180945dup, NC_000002.12:g.112180939_112180945dup, NC_000002.12:g.112180938_112180945dup, NC_000002.12:g.112180935_112180945dup, NC_000002.12:g.112180934_112180945dup, NC_000002.12:g.112180932_112180945dup, NC_000002.12:g.112180945_112180946insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.112180923_112180945A[27]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000002.12:g.112180923_112180945A[24]GAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000002.12:g.112180923_112180945A[23]GAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000002.12:g.112180923_112180945A[23]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000002.11:g.112938508_112938522del, NC_000002.11:g.112938512_112938522del, NC_000002.11:g.112938513_112938522del, NC_000002.11:g.112938514_112938522del, NC_000002.11:g.112938515_112938522del, NC_000002.11:g.112938516_112938522del, NC_000002.11:g.112938517_112938522del, NC_000002.11:g.112938518_112938522del, NC_000002.11:g.112938519_112938522del, NC_000002.11:g.112938520_112938522del, NC_000002.11:g.112938521_112938522del, NC_000002.11:g.112938522del, NC_000002.11:g.112938522dup, NC_000002.11:g.112938521_112938522dup, NC_000002.11:g.112938520_112938522dup, NC_000002.11:g.112938519_112938522dup, NC_000002.11:g.112938518_112938522dup, NC_000002.11:g.112938517_112938522dup, NC_000002.11:g.112938516_112938522dup, NC_000002.11:g.112938515_112938522dup, NC_000002.11:g.112938512_112938522dup, NC_000002.11:g.112938511_112938522dup, NC_000002.11:g.112938509_112938522dup, NC_000002.11:g.112938522_112938523insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.112938500_112938522A[27]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000002.11:g.112938500_112938522A[24]GAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000002.11:g.112938500_112938522A[23]GAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000002.11:g.112938500_112938522A[23]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], XM_047443320.1:c.*2700_*2714del, XM_047443320.1:c.*2704_*2714del, XM_047443320.1:c.*2705_*2714del, XM_047443320.1:c.*2706_*2714del, XM_047443320.1:c.*2707_*2714del, XM_047443320.1:c.*2708_*2714del, XM_047443320.1:c.*2709_*2714del, XM_047443320.1:c.*2710_*2714del, XM_047443320.1:c.*2711_*2714del, XM_047443320.1:c.*2712_*2714del, XM_047443320.1:c.*2713_*2714del, XM_047443320.1:c.*2714del, XM_047443320.1:c.*2714dup, XM_047443320.1:c.*2713_*2714dup, XM_047443320.1:c.*2712_*2714dup, XM_047443320.1:c.*2711_*2714dup, XM_047443320.1:c.*2710_*2714dup, XM_047443320.1:c.*2709_*2714dup, XM_047443320.1:c.*2708_*2714dup, XM_047443320.1:c.*2707_*2714dup, XM_047443320.1:c.*2704_*2714dup, XM_047443320.1:c.*2703_*2714dup, XM_047443320.1:c.*2701_*2714dup, XM_047443320.1:c.*2714_*2715insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, XM_047443320.1:c.*2692_*2714A[27]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], XM_047443320.1:c.*2692_*2714A[24]GAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], XM_047443320.1:c.*2692_*2714A[23]GAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], XM_047443320.1:c.*2692_*2714A[23]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]

Select item 14915749272.

rs1491574927 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CT [Show Flanks]
Chromosome:: 2:112196375 (GRCh38)
2:112953953 (GRCh37)
Canonical SPDI:: NC_000002.12:112196375:T:TCT
Gene:: FBLN7 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TCT=0./0 (ALFA)
HGVS:: NC_000002.12:g.112196376_112196377insCT, NC_000002.11:g.112953953_112953954insCT

Select item 14915638153.

rs1491563815 has merged into rs67150175 [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,TTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:112196385 (GRCh38)
2:112953962 (GRCh37)
Canonical SPDI:: NC_000002.12:112196374:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:112196374:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:112196374:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:112196374:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:112196374:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:112196374:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:112196374:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:112196374:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:112196374:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:112196374:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:112196374:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:112196374:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:112196374:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:112196374:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:112196374:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:112196374:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:112196374:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:112196374:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:112196374:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:112196374:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:112196374:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:112196374:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:112196374:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:112196374:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:112196374:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:112196374:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:112196374:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:112196374:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:112196374:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:112196374:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:112196374:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:112196374:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:112196374:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:112196374:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: FBLN7 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000002.12:g.112196385_112196399del, NC_000002.12:g.112196386_112196399del, NC_000002.12:g.112196387_112196399del, NC_000002.12:g.112196388_112196399del, NC_000002.12:g.112196389_112196399del, NC_000002.12:g.112196390_112196399del, NC_000002.12:g.112196391_112196399del, NC_000002.12:g.112196392_112196399del, NC_000002.12:g.112196393_112196399del, NC_000002.12:g.112196394_112196399del, NC_000002.12:g.112196395_112196399del, NC_000002.12:g.112196396_112196399del, NC_000002.12:g.112196397_112196399del, NC_000002.12:g.112196398_112196399del, NC_000002.12:g.112196399del, NC_000002.12:g.112196399dup, NC_000002.12:g.112196398_112196399dup, NC_000002.12:g.112196397_112196399dup, NC_000002.12:g.112196396_112196399dup, NC_000002.12:g.112196395_112196399dup, NC_000002.12:g.112196375_112196399T[30]CTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.112196394_112196399dup, NC_000002.12:g.112196393_112196399dup, NC_000002.12:g.112196392_112196399dup, NC_000002.12:g.112196391_112196399dup, NC_000002.12:g.112196390_112196399dup, NC_000002.12:g.112196389_112196399dup, NC_000002.12:g.112196388_112196399dup, NC_000002.12:g.112196387_112196399dup, NC_000002.12:g.112196385_112196399dup, NC_000002.12:g.112196377_112196399dup, NC_000002.12:g.112196399_112196400insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.112196399_112196400insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.112196399_112196400insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.112953962_112953976del, NC_000002.11:g.112953963_112953976del, NC_000002.11:g.112953964_112953976del, NC_000002.11:g.112953965_112953976del, NC_000002.11:g.112953966_112953976del, NC_000002.11:g.112953967_112953976del, NC_000002.11:g.112953968_112953976del, NC_000002.11:g.112953969_112953976del, NC_000002.11:g.112953970_112953976del, NC_000002.11:g.112953971_112953976del, NC_000002.11:g.112953972_112953976del, NC_000002.11:g.112953973_112953976del, NC_000002.11:g.112953974_112953976del, NC_000002.11:g.112953975_112953976del, NC_000002.11:g.112953976del, NC_000002.11:g.112953976dup, NC_000002.11:g.112953975_112953976dup, NC_000002.11:g.112953974_112953976dup, NC_000002.11:g.112953973_112953976dup, NC_000002.11:g.112953972_112953976dup, NC_000002.11:g.112953952_112953976T[30]CTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.112953971_112953976dup, NC_000002.11:g.112953970_112953976dup, NC_000002.11:g.112953969_112953976dup, NC_000002.11:g.112953968_112953976dup, NC_000002.11:g.112953967_112953976dup, NC_000002.11:g.112953966_112953976dup, NC_000002.11:g.112953965_112953976dup, NC_000002.11:g.112953964_112953976dup, NC_000002.11:g.112953962_112953976dup, NC_000002.11:g.112953954_112953976dup, NC_000002.11:g.112953976_112953977insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.112953976_112953977insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.112953976_112953977insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14915474924.

rs1491547492 [Homo sapiens]

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

Select item 14914906865.

rs1491490686 has merged into rs67150175 [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,TTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:112196385 (GRCh38)
2:112953962 (GRCh37)
Canonical SPDI:: NC_000002.12:112196374:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:112196374:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:112196374:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:112196374:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:112196374:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:112196374:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:112196374:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:112196374:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:112196374:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:112196374:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:112196374:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:112196374:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:112196374:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:112196374:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:112196374:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:112196374:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:112196374:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:112196374:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:112196374:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:112196374:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:112196374:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:112196374:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:112196374:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:112196374:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:112196374:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:112196374:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:112196374:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:112196374:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:112196374:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:112196374:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:112196374:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:112196374:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:112196374:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:112196374:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: FBLN7 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000002.12:g.112196385_112196399del, NC_000002.12:g.112196386_112196399del, NC_000002.12:g.112196387_112196399del, NC_000002.12:g.112196388_112196399del, NC_000002.12:g.112196389_112196399del, NC_000002.12:g.112196390_112196399del, NC_000002.12:g.112196391_112196399del, NC_000002.12:g.112196392_112196399del, NC_000002.12:g.112196393_112196399del, NC_000002.12:g.112196394_112196399del, NC_000002.12:g.112196395_112196399del, NC_000002.12:g.112196396_112196399del, NC_000002.12:g.112196397_112196399del, NC_000002.12:g.112196398_112196399del, NC_000002.12:g.112196399del, NC_000002.12:g.112196399dup, NC_000002.12:g.112196398_112196399dup, NC_000002.12:g.112196397_112196399dup, NC_000002.12:g.112196396_112196399dup, NC_000002.12:g.112196395_112196399dup, NC_000002.12:g.112196375_112196399T[30]CTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.112196394_112196399dup, NC_000002.12:g.112196393_112196399dup, NC_000002.12:g.112196392_112196399dup, NC_000002.12:g.112196391_112196399dup, NC_000002.12:g.112196390_112196399dup, NC_000002.12:g.112196389_112196399dup, NC_000002.12:g.112196388_112196399dup, NC_000002.12:g.112196387_112196399dup, NC_000002.12:g.112196385_112196399dup, NC_000002.12:g.112196377_112196399dup, NC_000002.12:g.112196399_112196400insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.112196399_112196400insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.112196399_112196400insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.112953962_112953976del, NC_000002.11:g.112953963_112953976del, NC_000002.11:g.112953964_112953976del, NC_000002.11:g.112953965_112953976del, NC_000002.11:g.112953966_112953976del, NC_000002.11:g.112953967_112953976del, NC_000002.11:g.112953968_112953976del, NC_000002.11:g.112953969_112953976del, NC_000002.11:g.112953970_112953976del, NC_000002.11:g.112953971_112953976del, NC_000002.11:g.112953972_112953976del, NC_000002.11:g.112953973_112953976del, NC_000002.11:g.112953974_112953976del, NC_000002.11:g.112953975_112953976del, NC_000002.11:g.112953976del, NC_000002.11:g.112953976dup, NC_000002.11:g.112953975_112953976dup, NC_000002.11:g.112953974_112953976dup, NC_000002.11:g.112953973_112953976dup, NC_000002.11:g.112953972_112953976dup, NC_000002.11:g.112953952_112953976T[30]CTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.112953971_112953976dup, NC_000002.11:g.112953970_112953976dup, NC_000002.11:g.112953969_112953976dup, NC_000002.11:g.112953968_112953976dup, NC_000002.11:g.112953967_112953976dup, NC_000002.11:g.112953966_112953976dup, NC_000002.11:g.112953965_112953976dup, NC_000002.11:g.112953964_112953976dup, NC_000002.11:g.112953962_112953976dup, NC_000002.11:g.112953954_112953976dup, NC_000002.11:g.112953976_112953977insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.112953976_112953977insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.112953976_112953977insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14914561306.

rs1491456130 [Homo sapiens]

Variant type:: INS
Alleles:: ->ATT,TT [Show Flanks]
Chromosome:: 2:112239578 (GRCh38)
2:112997156 (GRCh37)
Canonical SPDI:: NC_000002.12:112239578::ATT,NC_000002.12:112239578::TT
Gene:: ZC3H8 (Varview), FBLN7 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: ATT=0./0 (ALFA)
TT=0.00004/4 (GnomAD)
HGVS:: NC_000002.12:g.112239578_112239579insATT, NC_000002.12:g.112239578_112239579insTT, NC_000002.11:g.112997155_112997156insATT, NC_000002.11:g.112997155_112997156insTT

Select item 14914526977.

rs1491452697 [Homo sapiens]

Variant type:: INS
Alleles:: ->AA,ACAA [Show Flanks]
Chromosome:: 2:112160799 (GRCh38)
2:112918377 (GRCh37)
Canonical SPDI:: NC_000002.12:112160799::AA,NC_000002.12:112160799::ACAA
Gene:: FBLN7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
HGVS:: NC_000002.12:g.112160799_112160800insAA, NC_000002.12:g.112160799_112160800insACAA, NC_000002.11:g.112918376_112918377insAA, NC_000002.11:g.112918376_112918377insACAA

Select item 14914502868.

rs1491450286 has merged into rs3048250 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:112210667 (GRCh38)
2:112968244 (GRCh37)
Canonical SPDI:: NC_000002.12:112210655:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:112210655:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:112210655:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:112210655:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:112210655:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:112210655:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:112210655:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:112210655:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:112210655:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:112210655:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:112210655:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:112210655:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:112210655:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:112210655:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:112210655:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:112210655:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:112210655:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:112210655:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:112210655:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:112210655:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: FBLN7 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000002.12:g.112210667_112210679del, NC_000002.12:g.112210668_112210679del, NC_000002.12:g.112210669_112210679del, NC_000002.12:g.112210671_112210679del, NC_000002.12:g.112210672_112210679del, NC_000002.12:g.112210673_112210679del, NC_000002.12:g.112210674_112210679del, NC_000002.12:g.112210675_112210679del, NC_000002.12:g.112210676_112210679del, NC_000002.12:g.112210677_112210679del, NC_000002.12:g.112210678_112210679del, NC_000002.12:g.112210679del, NC_000002.12:g.112210679dup, NC_000002.12:g.112210678_112210679dup, NC_000002.12:g.112210677_112210679dup, NC_000002.12:g.112210675_112210679dup, NC_000002.12:g.112210674_112210679dup, NC_000002.12:g.112210679_112210680insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.112210679_112210680insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.112210679_112210680insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.112968244_112968256del, NC_000002.11:g.112968245_112968256del, NC_000002.11:g.112968246_112968256del, NC_000002.11:g.112968248_112968256del, NC_000002.11:g.112968249_112968256del, NC_000002.11:g.112968250_112968256del, NC_000002.11:g.112968251_112968256del, NC_000002.11:g.112968252_112968256del, NC_000002.11:g.112968253_112968256del, NC_000002.11:g.112968254_112968256del, NC_000002.11:g.112968255_112968256del, NC_000002.11:g.112968256del, NC_000002.11:g.112968256dup, NC_000002.11:g.112968255_112968256dup, NC_000002.11:g.112968254_112968256dup, NC_000002.11:g.112968252_112968256dup, NC_000002.11:g.112968251_112968256dup, NC_000002.11:g.112968256_112968257insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.112968256_112968257insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.112968256_112968257insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14914460649.

rs1491446064 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 2:112221766 (GRCh38)
2:112979343 (GRCh37)
Canonical SPDI:: NC_000002.12:112221764:TGT:T
Gene:: ZC3H8 (Varview), FBLN7 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.0002/1 (ALFA)
-=0.0002/1 (Estonian)
HGVS:: NC_000002.12:g.112221766_112221767del, NC_000002.11:g.112979343_112979344del, XR_007069507.1:n.1389_1390del, XR_007069508.1:n.1389_1390del

Select item 149139582510.

rs1491395825 [Homo sapiens]

Variant type:: INS
Alleles:: ->AG,GCCAG [Show Flanks]
Chromosome:: 2:112138838 (GRCh38)
2:112896416 (GRCh37)
Canonical SPDI:: NC_000002.12:112138838::AG,NC_000002.12:112138838::GCCAG
Gene:: FBLN7 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AG=0./0 (ALFA)
AG=0.00014/3 (TOMMO)
HGVS:: NC_000002.12:g.112138838_112138839insAG, NC_000002.12:g.112138838_112138839insGCCAG, NC_000002.11:g.112896415_112896416insAG, NC_000002.11:g.112896415_112896416insGCCAG

Select item 149136693111.

rs1491366931 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 2:112240952 (GRCh38)
2:112998529 (GRCh37)
Canonical SPDI:: NC_000002.12:112240951:AG:
Gene:: ZC3H8 (Varview), FBLN7 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000009/1 (GnomAD)
HGVS:: NC_000002.12:g.112240952_112240953del, NC_000002.11:g.112998529_112998530del

Select item 149135756612.

rs1491357566 [Homo sapiens]

Variant type:: DEL
Alleles:: CC>- [Show Flanks]
Chromosome:: 2:112178269 (GRCh38)
2:112935846 (GRCh37)
Canonical SPDI:: NC_000002.12:112178268:CC:
Gene:: FBLN7 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.001901/31 (ALFA)
-=0.000327/45 (GnomAD)
-=0.008437/141 (TOMMO)
HGVS:: NC_000002.12:g.112178269_112178270del, NC_000002.11:g.112935846_112935847del, XM_047443320.1:c.*38_*39del

Select item 149131350213.

rs1491313502 has merged into rs368036702 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGAGAGAGAGAGAGAGA>-,GA,GAGA,GAGAGA,GAGAGAGA,GAGAGAGAGA,GAGAGAGAGAGA,GAGAGAGAGAGAGA,GAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGA [Show Flanks]
Chromosome:: 2:112197290 (GRCh38)
2:112954867 (GRCh37)
Canonical SPDI:: NC_000002.12:112197274:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGA,NC_000002.12:112197274:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGA,NC_000002.12:112197274:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGA,NC_000002.12:112197274:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGA,NC_000002.12:112197274:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGA,NC_000002.12:112197274:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGA,NC_000002.12:112197274:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000002.12:112197274:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000002.12:112197274:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000002.12:112197274:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000002.12:112197274:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000002.12:112197274:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000002.12:112197274:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA
Gene:: FBLN7 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGAGAGAGAGAGAGA=0./0 (ALFA)
-=0.17073/658 (ALSPAC)
-=0.17584/652 (TWINSUK)
HGVS:: NC_000002.12:g.112197276GA[7], NC_000002.12:g.112197276GA[8], NC_000002.12:g.112197276GA[9], NC_000002.12:g.112197276GA[10], NC_000002.12:g.112197276GA[11], NC_000002.12:g.112197276GA[12], NC_000002.12:g.112197276GA[13], NC_000002.12:g.112197276GA[14], NC_000002.12:g.112197276GA[15], NC_000002.12:g.112197276GA[17], NC_000002.12:g.112197276GA[18], NC_000002.12:g.112197276GA[19], NC_000002.12:g.112197276GA[20], NC_000002.11:g.112954853GA[7], NC_000002.11:g.112954853GA[8], NC_000002.11:g.112954853GA[9], NC_000002.11:g.112954853GA[10], NC_000002.11:g.112954853GA[11], NC_000002.11:g.112954853GA[12], NC_000002.11:g.112954853GA[13], NC_000002.11:g.112954853GA[14], NC_000002.11:g.112954853GA[15], NC_000002.11:g.112954853GA[17], NC_000002.11:g.112954853GA[18], NC_000002.11:g.112954853GA[19], NC_000002.11:g.112954853GA[20]

Select item 149130826314.

rs1491308263 [Homo sapiens]

Variant type:: DELINS
Alleles:: GC>- [Show Flanks]
Chromosome:: 2:112160800 (GRCh38)
2:112918377 (GRCh37)
Canonical SPDI:: NC_000002.12:112160798:CGC:C
Gene:: FBLN7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
-=0.000077/9 (GnomAD)
HGVS:: NC_000002.12:g.112160800_112160801del, NC_000002.11:g.112918377_112918378del

Select item 149129250815.

rs1491292508 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:112210655 (GRCh38)
2:112968232 (GRCh37)
Canonical SPDI:: NC_000002.12:112210654:CA:
Gene:: FBLN7 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.03709/440 (ALFA)
-=0.00162/44 (TOMMO)
-=0.00235/53 (GnomAD)
HGVS:: NC_000002.12:g.112210655_112210656del, NC_000002.11:g.112968232_112968233del

Select item 149126270516.

rs1491262705 has merged into rs3048247 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 2:112241023 (GRCh38)
2:112998600 (GRCh37)
Canonical SPDI:: NC_000002.12:112241009:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGT,NC_000002.12:112241009:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000002.12:112241009:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000002.12:112241009:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000002.12:112241009:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:112241009:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:112241009:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:112241009:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:112241009:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: ZC3H8 (Varview), FBLN7 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGT=0./0 (ALFA)
TGTGTGTGTG=0.000008/2 (TOPMED)
TG=0.25/10 (GENOME_DK)
TG=0.345/207 (NorthernSweden)
HGVS:: NC_000002.12:g.112241011GT[6], NC_000002.12:g.112241011GT[7], NC_000002.12:g.112241011GT[8], NC_000002.12:g.112241011GT[9], NC_000002.12:g.112241011GT[11], NC_000002.12:g.112241011GT[12], NC_000002.12:g.112241011GT[13], NC_000002.12:g.112241011GT[14], NC_000002.12:g.112241011GT[15], NC_000002.11:g.112998588GT[6], NC_000002.11:g.112998588GT[7], NC_000002.11:g.112998588GT[8], NC_000002.11:g.112998588GT[9], NC_000002.11:g.112998588GT[11], NC_000002.11:g.112998588GT[12], NC_000002.11:g.112998588GT[13], NC_000002.11:g.112998588GT[14], NC_000002.11:g.112998588GT[15]

Select item 149126058217.

rs1491260582 has merged into rs67273091 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGTGTGTGTGTGTGTGTGTGTGTG>-,TGTGTG,TGTGTGTG,TGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTGTG,TGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG [Show Flanks]
Chromosome:: 2:112240962 (GRCh38)
2:112998539 (GRCh37)
Canonical SPDI:: NC_000002.12:112240952:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTG,NC_000002.12:112240952:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTG,NC_000002.12:112240952:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTG,NC_000002.12:112240952:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTG,NC_000002.12:112240952:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTG,NC_000002.12:112240952:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTG,NC_000002.12:112240952:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTG,NC_000002.12:112240952:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000002.12:112240952:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000002.12:112240952:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000002.12:112240952:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000002.12:112240952:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000002.12:112240952:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000002.12:112240952:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000002.12:112240952:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000002.12:112240952:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000002.12:112240952:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000002.12:112240952:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000002.12:112240952:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
Gene:: ZC3H8 (Varview), FBLN7 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGTGTG=0./0 (ALFA)
-=0.0978/377 (ALSPAC)
-=0.4111/2059 (1000Genomes)
HGVS:: NC_000002.12:g.112240954TG[4], NC_000002.12:g.112240954TG[7], NC_000002.12:g.112240954TG[8], NC_000002.12:g.112240954TG[9], NC_000002.12:g.112240954TG[10], NC_000002.12:g.112240954TG[11], NC_000002.12:g.112240954TG[12], NC_000002.12:g.112240954TG[13], NC_000002.12:g.112240954TG[14], NC_000002.12:g.112240954TG[15], NC_000002.12:g.112240954TG[17], NC_000002.12:g.112240954TG[18], NC_000002.12:g.112240954TG[19], NC_000002.12:g.112240954TG[20], NC_000002.12:g.112240954TG[21], NC_000002.12:g.112240954TG[22], NC_000002.12:g.112240954TG[23], NC_000002.12:g.112240954TG[24], NC_000002.12:g.112240954TG[26], NC_000002.11:g.112998531TG[4], NC_000002.11:g.112998531TG[7], NC_000002.11:g.112998531TG[8], NC_000002.11:g.112998531TG[9], NC_000002.11:g.112998531TG[10], NC_000002.11:g.112998531TG[11], NC_000002.11:g.112998531TG[12], NC_000002.11:g.112998531TG[13], NC_000002.11:g.112998531TG[14], NC_000002.11:g.112998531TG[15], NC_000002.11:g.112998531TG[17], NC_000002.11:g.112998531TG[18], NC_000002.11:g.112998531TG[19], NC_000002.11:g.112998531TG[20], NC_000002.11:g.112998531TG[21], NC_000002.11:g.112998531TG[22], NC_000002.11:g.112998531TG[23], NC_000002.11:g.112998531TG[24], NC_000002.11:g.112998531TG[26]

Select item 149123122118.

rs1491231221 [Homo sapiens]

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

Select item 149120647119.

rs1491206471 has merged into rs35764058 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:112144533 (GRCh38)
2:112902110 (GRCh37)
Canonical SPDI:: NC_000002.12:112144523:TTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000002.12:112144523:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:112144523:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:112144523:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:112144523:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:112144523:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:112144523:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:112144523:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:112144523:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:112144523:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:112144523:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:112144523:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:112144523:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:112144523:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:112144523:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:112144523:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTT,NC_000002.12:112144523:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:112144523:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:112144523:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:112144523:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:112144523:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:112144523:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: FBLN7 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.112144533_112144542del, NC_000002.12:g.112144536_112144542del, NC_000002.12:g.112144537_112144542del, NC_000002.12:g.112144538_112144542del, NC_000002.12:g.112144539_112144542del, NC_000002.12:g.112144540_112144542del, NC_000002.12:g.112144541_112144542del, NC_000002.12:g.112144542del, NC_000002.12:g.112144542dup, NC_000002.12:g.112144541_112144542dup, NC_000002.12:g.112144540_112144542dup, NC_000002.12:g.112144539_112144542dup, NC_000002.12:g.112144538_112144542dup, NC_000002.12:g.112144537_112144542dup, NC_000002.12:g.112144536_112144542dup, NC_000002.12:g.112144524_112144542T[26]CTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.112144528_112144542dup, NC_000002.12:g.112144525_112144542dup, NC_000002.12:g.112144542_112144543insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.112144542_112144543insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.112144542_112144543insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.112144542_112144543insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.112902110_112902119del, NC_000002.11:g.112902113_112902119del, NC_000002.11:g.112902114_112902119del, NC_000002.11:g.112902115_112902119del, NC_000002.11:g.112902116_112902119del, NC_000002.11:g.112902117_112902119del, NC_000002.11:g.112902118_112902119del, NC_000002.11:g.112902119del, NC_000002.11:g.112902119dup, NC_000002.11:g.112902118_112902119dup, NC_000002.11:g.112902117_112902119dup, NC_000002.11:g.112902116_112902119dup, NC_000002.11:g.112902115_112902119dup, NC_000002.11:g.112902114_112902119dup, NC_000002.11:g.112902113_112902119dup, NC_000002.11:g.112902101_112902119T[26]CTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.112902105_112902119dup, NC_000002.11:g.112902102_112902119dup, NC_000002.11:g.112902119_112902120insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.112902119_112902120insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.112902119_112902120insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.112902119_112902120insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149119297120.

rs1491192971 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 2:112138838 (GRCh38)
2:112896415 (GRCh37)
Canonical SPDI:: NC_000002.12:112138837:CT:
Gene:: FBLN7 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000002.12:g.112138838_112138839del, NC_000002.11:g.112896415_112896416del

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