Links from Gene
Items: 1 to 20 of 1000
1.
rs1491583674 has merged into rs56022687 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 15:56461992
(GRCh38)
15:56754190
(GRCh37)
- Canonical SPDI:
- NC_000015.10:56461975:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000015.10:56461975:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000015.10:56461975:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000015.10:56461975:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000015.10:56461975:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000015.10:56461975:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000015.10:56461975:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:56461975:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:56461975:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:56461975:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:56461975:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:56461975:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:56461975:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:56461975:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:56461975:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:56461975:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:56461975:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:56461975:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:56461975:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:56461975:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:56461975:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:56461975:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:56461975:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:56461975:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:56461975:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:56461975:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:56461975:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:56461975:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:56461975:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:56461975:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:56461975:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:56461975:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:56461975:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:56461975:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:56461975:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:56461975:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:56461975:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:56461975:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:56461975:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- MNS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.0241/93
(ALSPAC)
-=0.0262/97
(TWINSUK)
- HGVS:
NC_000015.10:g.56461992_56462010del, NC_000015.10:g.56461993_56462010del, NC_000015.10:g.56461994_56462010del, NC_000015.10:g.56461995_56462010del, NC_000015.10:g.56461996_56462010del, NC_000015.10:g.56461997_56462010del, NC_000015.10:g.56461998_56462010del, NC_000015.10:g.56461999_56462010del, NC_000015.10:g.56462000_56462010del, NC_000015.10:g.56462001_56462010del, NC_000015.10:g.56462002_56462010del, NC_000015.10:g.56462003_56462010del, NC_000015.10:g.56462004_56462010del, NC_000015.10:g.56462005_56462010del, NC_000015.10:g.56462006_56462010del, NC_000015.10:g.56462007_56462010del, NC_000015.10:g.56462008_56462010del, NC_000015.10:g.56462009_56462010del, NC_000015.10:g.56462010del, NC_000015.10:g.56462010dup, NC_000015.10:g.56462009_56462010dup, NC_000015.10:g.56462008_56462010dup, NC_000015.10:g.56462007_56462010dup, NC_000015.10:g.56462006_56462010dup, NC_000015.10:g.56462005_56462010dup, NC_000015.10:g.56462004_56462010dup, NC_000015.10:g.56462003_56462010dup, NC_000015.10:g.56462002_56462010dup, NC_000015.10:g.56462001_56462010dup, NC_000015.10:g.56462000_56462010dup, NC_000015.10:g.56461999_56462010dup, NC_000015.10:g.56461998_56462010dup, NC_000015.10:g.56461997_56462010dup, NC_000015.10:g.56461996_56462010dup, NC_000015.10:g.56461995_56462010dup, NC_000015.10:g.56461994_56462010dup, NC_000015.10:g.56461993_56462010dup, NC_000015.10:g.56461990_56462010dup, NC_000015.10:g.56461982_56462010dup, NC_000015.9:g.56754190_56754208del, NC_000015.9:g.56754191_56754208del, NC_000015.9:g.56754192_56754208del, NC_000015.9:g.56754193_56754208del, NC_000015.9:g.56754194_56754208del, NC_000015.9:g.56754195_56754208del, NC_000015.9:g.56754196_56754208del, NC_000015.9:g.56754197_56754208del, NC_000015.9:g.56754198_56754208del, NC_000015.9:g.56754199_56754208del, NC_000015.9:g.56754200_56754208del, NC_000015.9:g.56754201_56754208del, NC_000015.9:g.56754202_56754208del, NC_000015.9:g.56754203_56754208del, NC_000015.9:g.56754204_56754208del, NC_000015.9:g.56754205_56754208del, NC_000015.9:g.56754206_56754208del, NC_000015.9:g.56754207_56754208del, NC_000015.9:g.56754208del, NC_000015.9:g.56754208dup, NC_000015.9:g.56754207_56754208dup, NC_000015.9:g.56754206_56754208dup, NC_000015.9:g.56754205_56754208dup, NC_000015.9:g.56754204_56754208dup, NC_000015.9:g.56754203_56754208dup, NC_000015.9:g.56754202_56754208dup, NC_000015.9:g.56754201_56754208dup, NC_000015.9:g.56754200_56754208dup, NC_000015.9:g.56754199_56754208dup, NC_000015.9:g.56754198_56754208dup, NC_000015.9:g.56754197_56754208dup, NC_000015.9:g.56754196_56754208dup, NC_000015.9:g.56754195_56754208dup, NC_000015.9:g.56754194_56754208dup, NC_000015.9:g.56754193_56754208dup, NC_000015.9:g.56754192_56754208dup, NC_000015.9:g.56754191_56754208dup, NC_000015.9:g.56754188_56754208dup, NC_000015.9:g.56754180_56754208dup
2.
rs1491572814 has merged into rs11294380 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 15:56461671
(GRCh38)
15:56753869
(GRCh37)
- Canonical SPDI:
- NC_000015.10:56461660:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000015.10:56461660:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000015.10:56461660:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000015.10:56461660:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000015.10:56461660:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000015.10:56461660:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000015.10:56461660:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000015.10:56461660:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000015.10:56461660:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000015.10:56461660:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000015.10:56461660:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000015.10:56461660:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:56461660:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:56461660:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:56461660:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:56461660:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:56461660:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:56461660:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:56461660:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:56461660:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- MNS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000015.10:g.56461671_56461682del, NC_000015.10:g.56461672_56461682del, NC_000015.10:g.56461673_56461682del, NC_000015.10:g.56461674_56461682del, NC_000015.10:g.56461675_56461682del, NC_000015.10:g.56461677_56461682del, NC_000015.10:g.56461678_56461682del, NC_000015.10:g.56461679_56461682del, NC_000015.10:g.56461680_56461682del, NC_000015.10:g.56461681_56461682del, NC_000015.10:g.56461682del, NC_000015.10:g.56461682dup, NC_000015.10:g.56461681_56461682dup, NC_000015.10:g.56461680_56461682dup, NC_000015.10:g.56461679_56461682dup, NC_000015.10:g.56461678_56461682dup, NC_000015.10:g.56461677_56461682dup, NC_000015.10:g.56461676_56461682dup, NC_000015.10:g.56461673_56461682dup, NC_000015.10:g.56461682_56461683insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.9:g.56753869_56753880del, NC_000015.9:g.56753870_56753880del, NC_000015.9:g.56753871_56753880del, NC_000015.9:g.56753872_56753880del, NC_000015.9:g.56753873_56753880del, NC_000015.9:g.56753875_56753880del, NC_000015.9:g.56753876_56753880del, NC_000015.9:g.56753877_56753880del, NC_000015.9:g.56753878_56753880del, NC_000015.9:g.56753879_56753880del, NC_000015.9:g.56753880del, NC_000015.9:g.56753880dup, NC_000015.9:g.56753879_56753880dup, NC_000015.9:g.56753878_56753880dup, NC_000015.9:g.56753877_56753880dup, NC_000015.9:g.56753876_56753880dup, NC_000015.9:g.56753875_56753880dup, NC_000015.9:g.56753874_56753880dup, NC_000015.9:g.56753871_56753880dup, NC_000015.9:g.56753880_56753881insAAAAAAAAAAAAAAAAAAAAAAAAAAA
3.
rs1491562886 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- 15:56433269
(GRCh38)
15:56725467
(GRCh37)
- Canonical SPDI:
- NC_000015.10:56433268:GA:
- Gene:
- MNS1 (Varview), TEX9 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,3_prime_UTR_variant,intron_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.000084/1
(
ALFA)
-=0.00003/4
(GnomAD)
-=0.000035/1
(TOMMO)
- HGVS:
5.
rs1491489599 has merged into rs56339584 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 15:56455259
(GRCh38)
15:56747457
(GRCh37)
- Canonical SPDI:
- NC_000015.10:56455247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000015.10:56455247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000015.10:56455247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000015.10:56455247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000015.10:56455247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000015.10:56455247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000015.10:56455247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000015.10:56455247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000015.10:56455247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000015.10:56455247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000015.10:56455247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:56455247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:56455247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:56455247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:56455247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:56455247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:56455247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:56455247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:56455247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:56455247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:56455247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:56455247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- MNS1 (Varview), TEX9 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAA=0./0
(
ALFA)
A=0.0083/32
(ALSPAC)
A=0.0121/45
(TWINSUK)
- HGVS:
NC_000015.10:g.56455259_56455271del, NC_000015.10:g.56455261_56455271del, NC_000015.10:g.56455262_56455271del, NC_000015.10:g.56455263_56455271del, NC_000015.10:g.56455264_56455271del, NC_000015.10:g.56455265_56455271del, NC_000015.10:g.56455266_56455271del, NC_000015.10:g.56455267_56455271del, NC_000015.10:g.56455268_56455271del, NC_000015.10:g.56455269_56455271del, NC_000015.10:g.56455270_56455271del, NC_000015.10:g.56455271del, NC_000015.10:g.56455271dup, NC_000015.10:g.56455270_56455271dup, NC_000015.10:g.56455269_56455271dup, NC_000015.10:g.56455268_56455271dup, NC_000015.10:g.56455267_56455271dup, NC_000015.10:g.56455266_56455271dup, NC_000015.10:g.56455253_56455271dup, NC_000015.10:g.56455248_56455271dup, NC_000015.10:g.56455271_56455272insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.10:g.56455248_56455271A[30]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000015.9:g.56747457_56747469del, NC_000015.9:g.56747459_56747469del, NC_000015.9:g.56747460_56747469del, NC_000015.9:g.56747461_56747469del, NC_000015.9:g.56747462_56747469del, NC_000015.9:g.56747463_56747469del, NC_000015.9:g.56747464_56747469del, NC_000015.9:g.56747465_56747469del, NC_000015.9:g.56747466_56747469del, NC_000015.9:g.56747467_56747469del, NC_000015.9:g.56747468_56747469del, NC_000015.9:g.56747469del, NC_000015.9:g.56747469dup, NC_000015.9:g.56747468_56747469dup, NC_000015.9:g.56747467_56747469dup, NC_000015.9:g.56747466_56747469dup, NC_000015.9:g.56747465_56747469dup, NC_000015.9:g.56747464_56747469dup, NC_000015.9:g.56747451_56747469dup, NC_000015.9:g.56747446_56747469dup, NC_000015.9:g.56747469_56747470insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.9:g.56747446_56747469A[30]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]
6.
rs1491346322 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 15:56461661
(GRCh38)
15:56753860
(GRCh37)
- Canonical SPDI:
- NC_000015.10:56461661::T
- Gene:
- MNS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
7.
rs1491289787 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- 15:56455247
(GRCh38)
15:56747445
(GRCh37)
- Canonical SPDI:
- NC_000015.10:56455246:GA:
- Gene:
- MNS1 (Varview), TEX9 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.00085/24
(TOMMO)
- HGVS:
9.
rs1491205532 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AC>-
[Show Flanks]
- Chromosome:
- 15:56461682
(GRCh38)
15:56753880
(GRCh37)
- Canonical SPDI:
- NC_000015.10:56461681:AC:
- Gene:
- MNS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.000084/1
(
ALFA)
-=0.000044/6
(GnomAD)
- HGVS:
10.
rs1491135418 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 15:56461682
(GRCh38)
15:56753881
(GRCh37)
- Canonical SPDI:
- NC_000015.10:56461682:C:CC
- Gene:
- MNS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
CC=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
11.
rs1491123632 has merged into rs11294380 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 15:56461671
(GRCh38)
15:56753869
(GRCh37)
- Canonical SPDI:
- NC_000015.10:56461660:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000015.10:56461660:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000015.10:56461660:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000015.10:56461660:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000015.10:56461660:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000015.10:56461660:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000015.10:56461660:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000015.10:56461660:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000015.10:56461660:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000015.10:56461660:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000015.10:56461660:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000015.10:56461660:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:56461660:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:56461660:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:56461660:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:56461660:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:56461660:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:56461660:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:56461660:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:56461660:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- MNS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000015.10:g.56461671_56461682del, NC_000015.10:g.56461672_56461682del, NC_000015.10:g.56461673_56461682del, NC_000015.10:g.56461674_56461682del, NC_000015.10:g.56461675_56461682del, NC_000015.10:g.56461677_56461682del, NC_000015.10:g.56461678_56461682del, NC_000015.10:g.56461679_56461682del, NC_000015.10:g.56461680_56461682del, NC_000015.10:g.56461681_56461682del, NC_000015.10:g.56461682del, NC_000015.10:g.56461682dup, NC_000015.10:g.56461681_56461682dup, NC_000015.10:g.56461680_56461682dup, NC_000015.10:g.56461679_56461682dup, NC_000015.10:g.56461678_56461682dup, NC_000015.10:g.56461677_56461682dup, NC_000015.10:g.56461676_56461682dup, NC_000015.10:g.56461673_56461682dup, NC_000015.10:g.56461682_56461683insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.9:g.56753869_56753880del, NC_000015.9:g.56753870_56753880del, NC_000015.9:g.56753871_56753880del, NC_000015.9:g.56753872_56753880del, NC_000015.9:g.56753873_56753880del, NC_000015.9:g.56753875_56753880del, NC_000015.9:g.56753876_56753880del, NC_000015.9:g.56753877_56753880del, NC_000015.9:g.56753878_56753880del, NC_000015.9:g.56753879_56753880del, NC_000015.9:g.56753880del, NC_000015.9:g.56753880dup, NC_000015.9:g.56753879_56753880dup, NC_000015.9:g.56753878_56753880dup, NC_000015.9:g.56753877_56753880dup, NC_000015.9:g.56753876_56753880dup, NC_000015.9:g.56753875_56753880dup, NC_000015.9:g.56753874_56753880dup, NC_000015.9:g.56753871_56753880dup, NC_000015.9:g.56753880_56753881insAAAAAAAAAAAAAAAAAAAAAAAAAAA
12.
rs1491098808 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->CC,GGGGGGCC,GGGGGGGC,GGGGGGGCC,GGGGGGGGGC,GGGGGGGGGCC,GGGGGGGGGCCC
[Show Flanks]
- Chromosome:
- 15:56433269
(GRCh38)
15:56725468
(GRCh37)
- Canonical SPDI:
- NC_000015.10:56433269::CC,NC_000015.10:56433269::GGGGGGCC,NC_000015.10:56433269::GGGGGGGC,NC_000015.10:56433269::GGGGGGGCC,NC_000015.10:56433269::GGGGGGGGGC,NC_000015.10:56433269::GGGGGGGGGCC,NC_000015.10:56433269::GGGGGGGGGCCC
- Gene:
- MNS1 (Varview), TEX9 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,3_prime_UTR_variant,intron_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000015.10:g.56433269_56433270insCC, NC_000015.10:g.56433269_56433270insGGGGGGCC, NC_000015.10:g.56433269_56433270insGGGGGGGC, NC_000015.10:g.56433269_56433270insGGGGGGGCC, NC_000015.10:g.56433269_56433270insGGGGGGGGGC, NC_000015.10:g.56433269_56433270insGGGGGGGGGCC, NC_000015.10:g.56433269_56433270insGGGGGGGGGCCC, NC_000015.9:g.56725467_56725468insCC, NC_000015.9:g.56725467_56725468insGGGGGGCC, NC_000015.9:g.56725467_56725468insGGGGGGGC, NC_000015.9:g.56725467_56725468insGGGGGGGCC, NC_000015.9:g.56725467_56725468insGGGGGGGGGC, NC_000015.9:g.56725467_56725468insGGGGGGGGGCC, NC_000015.9:g.56725467_56725468insGGGGGGGGGCCC, XM_047432467.1:c.*124_*125insCC, XM_047432467.1:c.*124_*125insGGGGGGCC, XM_047432467.1:c.*124_*125insGGGGGGGC, XM_047432467.1:c.*124_*125insGGGGGGGCC, XM_047432467.1:c.*124_*125insGGGGGGGGGC, XM_047432467.1:c.*124_*125insGGGGGGGGGCC, XM_047432467.1:c.*124_*125insGGGGGGGGGCCC
13.
rs1491080218 has merged into rs150132300 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 15:56460000
(GRCh38)
15:56752198
(GRCh37)
- Canonical SPDI:
- NC_000015.10:56459990:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000015.10:56459990:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000015.10:56459990:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000015.10:56459990:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000015.10:56459990:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000015.10:56459990:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000015.10:56459990:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000015.10:56459990:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000015.10:56459990:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000015.10:56459990:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000015.10:56459990:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000015.10:56459990:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:56459990:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:56459990:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:56459990:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:56459990:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:56459990:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:56459990:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:56459990:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:56459990:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:56459990:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:56459990:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:56459990:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:56459990:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:56459990:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:56459990:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:56459990:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:56459990:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:56459990:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:56459990:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- MNS1 (Varview), TEX9 (Varview)
- Functional Consequence:
- intron_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000015.10:g.56460000_56460010del, NC_000015.10:g.56460002_56460010del, NC_000015.10:g.56460003_56460010del, NC_000015.10:g.56460004_56460010del, NC_000015.10:g.56460005_56460010del, NC_000015.10:g.56460006_56460010del, NC_000015.10:g.56460007_56460010del, NC_000015.10:g.56460008_56460010del, NC_000015.10:g.56460009_56460010del, NC_000015.10:g.56460010del, NC_000015.10:g.56460010dup, NC_000015.10:g.56460009_56460010dup, NC_000015.10:g.56460008_56460010dup, NC_000015.10:g.56460007_56460010dup, NC_000015.10:g.56460006_56460010dup, NC_000015.10:g.56460005_56460010dup, NC_000015.10:g.56460004_56460010dup, NC_000015.10:g.56460003_56460010dup, NC_000015.10:g.56460002_56460010dup, NC_000015.10:g.56460001_56460010dup, NC_000015.10:g.56460000_56460010dup, NC_000015.10:g.56459999_56460010dup, NC_000015.10:g.56459998_56460010dup, NC_000015.10:g.56459997_56460010dup, NC_000015.10:g.56459996_56460010dup, NC_000015.10:g.56459994_56460010dup, NC_000015.10:g.56459993_56460010dup, NC_000015.10:g.56459992_56460010dup, NC_000015.10:g.56459991_56460010dup, NC_000015.10:g.56460010_56460011insAAAAAAAAAAAAAAAAAAAAA, NC_000015.9:g.56752198_56752208del, NC_000015.9:g.56752200_56752208del, NC_000015.9:g.56752201_56752208del, NC_000015.9:g.56752202_56752208del, NC_000015.9:g.56752203_56752208del, NC_000015.9:g.56752204_56752208del, NC_000015.9:g.56752205_56752208del, NC_000015.9:g.56752206_56752208del, NC_000015.9:g.56752207_56752208del, NC_000015.9:g.56752208del, NC_000015.9:g.56752208dup, NC_000015.9:g.56752207_56752208dup, NC_000015.9:g.56752206_56752208dup, NC_000015.9:g.56752205_56752208dup, NC_000015.9:g.56752204_56752208dup, NC_000015.9:g.56752203_56752208dup, NC_000015.9:g.56752202_56752208dup, NC_000015.9:g.56752201_56752208dup, NC_000015.9:g.56752200_56752208dup, NC_000015.9:g.56752199_56752208dup, NC_000015.9:g.56752198_56752208dup, NC_000015.9:g.56752197_56752208dup, NC_000015.9:g.56752196_56752208dup, NC_000015.9:g.56752195_56752208dup, NC_000015.9:g.56752194_56752208dup, NC_000015.9:g.56752192_56752208dup, NC_000015.9:g.56752191_56752208dup, NC_000015.9:g.56752190_56752208dup, NC_000015.9:g.56752189_56752208dup, NC_000015.9:g.56752208_56752209insAAAAAAAAAAAAAAAAAAAAA, XM_047432466.1:c.*402_*412del, XM_047432466.1:c.*404_*412del, XM_047432466.1:c.*405_*412del, XM_047432466.1:c.*406_*412del, XM_047432466.1:c.*407_*412del, XM_047432466.1:c.*408_*412del, XM_047432466.1:c.*409_*412del, XM_047432466.1:c.*410_*412del, XM_047432466.1:c.*411_*412del, XM_047432466.1:c.*412del, XM_047432466.1:c.*412dup, XM_047432466.1:c.*411_*412dup, XM_047432466.1:c.*410_*412dup, XM_047432466.1:c.*409_*412dup, XM_047432466.1:c.*408_*412dup, XM_047432466.1:c.*407_*412dup, XM_047432466.1:c.*406_*412dup, XM_047432466.1:c.*405_*412dup, XM_047432466.1:c.*404_*412dup, XM_047432466.1:c.*403_*412dup, XM_047432466.1:c.*402_*412dup, XM_047432466.1:c.*401_*412dup, XM_047432466.1:c.*400_*412dup, XM_047432466.1:c.*399_*412dup, XM_047432466.1:c.*398_*412dup, XM_047432466.1:c.*396_*412dup, XM_047432466.1:c.*395_*412dup, XM_047432466.1:c.*394_*412dup, XM_047432466.1:c.*393_*412dup, XM_047432466.1:c.*412_*413insAAAAAAAAAAAAAAAAAAAAA
14.
rs1491002997 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 15:56440345
(GRCh38)
15:56732543
(GRCh37)
- Canonical SPDI:
- NC_000015.10:56440344:C:G
- Gene:
- MNS1 (Varview), TEX9 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
15.
rs1490945988 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 15:56458579
(GRCh38)
15:56750778
(GRCh37)
- Canonical SPDI:
- NC_000015.10:56458579:CCC:CCCC
- Gene:
- MNS1 (Varview), TEX9 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency
- MAF:
C=0.000007/1
(GnomAD)
- HGVS:
16.
rs1490937069 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 15:56441419
(GRCh38)
15:56733617
(GRCh37)
- Canonical SPDI:
- NC_000015.10:56441418:G:A,NC_000015.10:56441418:G:C
- Gene:
- MNS1 (Varview), TEX9 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.000021/3
(GnomAD)
- HGVS:
17.
rs1490884662 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 15:56428460
(GRCh38)
15:56720658
(GRCh37)
- Canonical SPDI:
- NC_000015.10:56428459:T:C
- Gene:
- MNS1 (Varview), TEX9 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,non_coding_transcript_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency
- MAF:
C=0.000004/1
(GnomAD_exomes)
- HGVS:
NC_000015.10:g.56428460T>C, NC_000015.9:g.56720658T>C, XM_005254359.6:c.*16T>C, XM_005254359.5:c.*16T>C, XM_005254359.4:c.*16T>C, XM_005254359.3:c.*16T>C, XM_005254359.2:c.*16T>C, XM_005254359.1:c.*16T>C, XM_011521530.4:c.*16T>C, XM_011521530.3:c.*16T>C, XM_011521530.2:c.*16T>C, XM_011521530.1:c.*16T>C, NM_198524.3:c.*16T>C, NM_198524.2:c.*16T>C, NM_198524.1:c.*16T>C, NM_001286449.2:c.*16T>C, NM_001286449.1:c.*16T>C, XM_047432467.1:c.*16T>C, NR_169563.1:n.1513T>C, XM_047432470.1:c.*16T>C, NM_001385045.1:c.*16T>C, NM_001385041.1:c.*16T>C, NM_001385042.1:c.*16T>C, NM_001385040.1:c.*16T>C, NM_001385049.1:c.*16T>C, NR_169562.1:n.1294T>C, NM_001385051.1:c.*16T>C, NM_001395496.1:c.*16T>C, NM_001385050.1:c.*16T>C, XM_047432471.1:c.*16T>C, NM_001385052.1:c.*16T>C, NM_001385044.1:c.*16T>C, NR_169561.1:n.1137T>C, XM_047432469.1:c.*16T>C, NM_001385046.1:c.*16T>C, NM_001385048.1:c.*16T>C, NM_001385047.1:c.*16T>C, NR_169560.1:n.1005T>C, XM_047432472.1:c.*16T>C, XM_047432473.1:c.*16T>C, XM_047432474.1:c.*16T>C, XM_047432466.1:c.*16T>C, NM_001385043.1:c.*16T>C, XM_047432468.1:c.*16T>C, XM_047432475.1:c.*16T>C, XM_047432476.1:c.*16T>C
18.
rs1490825367 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 15:56448889
(GRCh38)
15:56741087
(GRCh37)
- Canonical SPDI:
- NC_000015.10:56448888:G:A,NC_000015.10:56448888:G:T
- Gene:
- MNS1 (Varview), TEX9 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
G=0.5/1
(SGDP_PRJ)
- HGVS:
19.
rs1490801476 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 15:56462756
(GRCh38)
15:56754954
(GRCh37)
- Canonical SPDI:
- NC_000015.10:56462755:C:A
- Gene:
- MNS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
20.
rs1490788169 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 15:56434292
(GRCh38)
15:56726490
(GRCh37)
- Canonical SPDI:
- NC_000015.10:56434291:T:C
- Gene:
- MNS1 (Varview), TEX9 (Varview)
- Functional Consequence:
- missense_variant,3_prime_UTR_variant,coding_sequence_variant,intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS: