Links from Gene
Items: 1 to 20 of 1000
1.
rs1491566912 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->ATGTGTACATATGTGTGTATAT
[Show Flanks]
- Chromosome:
- 12:109443105
(GRCh38)
12:109880911
(GRCh37)
- Canonical SPDI:
- NC_000012.12:109443105:ATATGTGTGTATAT:ATATGTGTGTATATATGTGTACATATGTGTGTATAT
- Gene:
- MYO1H (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
ATATGTGTGTATATATGTGTAC=0.00917/13
(Korea1K)
ATATGTGTGTATATATGTGTAC=0.01866/262
(TOMMO)
ATATGTGTGTATATATGTGTAC=0.06592/3160
(GnomAD)
- HGVS:
2.
rs1491549353 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CT,CTTCT,CTTCTTCT,CTTCTTCTTCT,CTTCTTCTTCTTCT,CTTCTTCTTCTTCTTCT
[Show Flanks]
- Chromosome:
- 12:109409247
(GRCh38)
12:109847053
(GRCh37)
- Canonical SPDI:
- NC_000012.12:109409247:T:TCT,NC_000012.12:109409247:T:TCTTCT,NC_000012.12:109409247:T:TCTTCTTCT,NC_000012.12:109409247:T:TCTTCTTCTTCT,NC_000012.12:109409247:T:TCTTCTTCTTCTTCT,NC_000012.12:109409247:T:TCTTCTTCTTCTTCTTCT
- Gene:
- MYO1H (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TCTTCT=0./0
(
ALFA)
TC=0.00043/5
(TOMMO)
- HGVS:
NC_000012.12:g.109409248_109409249insCT, NC_000012.12:g.109409248_109409249insCTTCT, NC_000012.12:g.109409248_109409249insCTTCTTCT, NC_000012.12:g.109409248_109409249insCTTCTTCTTCT, NC_000012.12:g.109409248_109409249insCTTCTTCTTCTTCT, NC_000012.12:g.109409248_109409249insCTTCTTCTTCTTCTTCT, NC_000012.11:g.109847053_109847054insCT, NC_000012.11:g.109847053_109847054insCTTCT, NC_000012.11:g.109847053_109847054insCTTCTTCT, NC_000012.11:g.109847053_109847054insCTTCTTCTTCT, NC_000012.11:g.109847053_109847054insCTTCTTCTTCTTCT, NC_000012.11:g.109847053_109847054insCTTCTTCTTCTTCTTCT
5.
rs1491470829 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GT>-
[Show Flanks]
- Chromosome:
- 12:109443150
(GRCh38)
12:109880955
(GRCh37)
- Canonical SPDI:
- NC_000012.12:109443149:GT:
- Gene:
- MYO1H (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.00012/2
(TOMMO)
- HGVS:
6.
rs1491439990 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GTGTGTATATGTGTAT,GTGTGTATATGTGTATGTAT,GTGTGTATGTGTGTATGTAT,GTGTGTGTATGTGTATGTAT
[Show Flanks]
- Chromosome:
- 12:109443103
(GRCh38)
12:109880909
(GRCh37)
- Canonical SPDI:
- NC_000012.12:109443103:GTAT:GTATGTGTGTATATGTGTAT,NC_000012.12:109443103:GTAT:GTATGTGTGTATATGTGTATGTAT,NC_000012.12:109443103:GTAT:GTATGTGTGTATGTGTGTATGTAT,NC_000012.12:109443103:GTAT:GTATGTGTGTGTATGTGTATGTAT
- Gene:
- MYO1H (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
GTATGTGTGTATATGTGTAT=0.03227/500
(TOMMO)
GTATGTGTGTATATGTGTAT=0.0659/109
(Korea1K)
- HGVS:
7.
rs1491439667 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->GTATAC,GTGTATAC,GTGTATACAC,GTGTGTATACAC
[Show Flanks]
- Chromosome:
- 12:109443047
(GRCh38)
12:109880853
(GRCh37)
- Canonical SPDI:
- NC_000012.12:109443047::GTATAC,NC_000012.12:109443047::GTGTATAC,NC_000012.12:109443047::GTGTATACAC,NC_000012.12:109443047::GTGTGTATACAC
- Gene:
- MYO1H (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GTGTATAC=0./0
(
ALFA)
GTGTATACAC=0.0007/11
(TOMMO)
GTGTATACAC=0.00117/2
(Korea1K)
- HGVS:
9.
rs1491364362 has merged into rs66507410 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 12:109409258
(GRCh38)
12:109847063
(GRCh37)
- Canonical SPDI:
- NC_000012.12:109409246:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000012.12:109409246:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:109409246:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:109409246:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:109409246:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000012.12:109409246:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:109409246:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:109409246:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000012.12:109409246:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000012.12:109409246:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000012.12:109409246:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000012.12:109409246:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:109409246:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:109409246:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:109409246:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:109409246:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:109409246:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:109409246:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:109409246:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:109409246:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:109409246:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:109409246:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:109409246:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:109409246:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:109409246:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:109409246:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:109409246:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:109409246:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:109409246:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:109409246:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:109409246:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:109409246:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:109409246:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:109409246:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:109409246:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:109409246:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:109409246:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:109409246:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:109409246:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:109409246:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:109409246:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:109409246:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:109409246:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:109409246:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:109409246:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:109409246:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:109409246:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:109409246:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:109409246:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:109409246:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- MYO1H (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTT=0./0
(
ALFA)
-=0./0
(GENOME_DK)
- HGVS:
NC_000012.12:g.109409258_109409274del, NC_000012.12:g.109409259_109409274del, NC_000012.12:g.109409260_109409274del, NC_000012.12:g.109409261_109409274del, NC_000012.12:g.109409262_109409274del, NC_000012.12:g.109409263_109409274del, NC_000012.12:g.109409264_109409274del, NC_000012.12:g.109409265_109409274del, NC_000012.12:g.109409266_109409274del, NC_000012.12:g.109409267_109409274del, NC_000012.12:g.109409268_109409274del, NC_000012.12:g.109409269_109409274del, NC_000012.12:g.109409270_109409274del, NC_000012.12:g.109409271_109409274del, NC_000012.12:g.109409272_109409274del, NC_000012.12:g.109409273_109409274del, NC_000012.12:g.109409274del, NC_000012.12:g.109409274dup, NC_000012.12:g.109409273_109409274dup, NC_000012.12:g.109409272_109409274dup, NC_000012.12:g.109409271_109409274dup, NC_000012.12:g.109409270_109409274dup, NC_000012.12:g.109409269_109409274dup, NC_000012.12:g.109409268_109409274dup, NC_000012.12:g.109409267_109409274dup, NC_000012.12:g.109409266_109409274dup, NC_000012.12:g.109409265_109409274dup, NC_000012.12:g.109409264_109409274dup, NC_000012.12:g.109409263_109409274dup, NC_000012.12:g.109409262_109409274dup, NC_000012.12:g.109409261_109409274dup, NC_000012.12:g.109409260_109409274dup, NC_000012.12:g.109409259_109409274dup, NC_000012.12:g.109409258_109409274dup, NC_000012.12:g.109409247_109409274T[45]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000012.12:g.109409257_109409274dup, NC_000012.12:g.109409256_109409274dup, NC_000012.12:g.109409254_109409274dup, NC_000012.12:g.109409253_109409274dup, NC_000012.12:g.109409252_109409274dup, NC_000012.12:g.109409251_109409274dup, NC_000012.12:g.109409250_109409274dup, NC_000012.12:g.109409249_109409274dup, NC_000012.12:g.109409248_109409274dup, NC_000012.12:g.109409247_109409274dup, NC_000012.12:g.109409274_109409275insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.109409274_109409275insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.109409274_109409275insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.109409274_109409275insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.109409274_109409275insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.109847063_109847079del, NC_000012.11:g.109847064_109847079del, NC_000012.11:g.109847065_109847079del, NC_000012.11:g.109847066_109847079del, NC_000012.11:g.109847067_109847079del, NC_000012.11:g.109847068_109847079del, NC_000012.11:g.109847069_109847079del, NC_000012.11:g.109847070_109847079del, NC_000012.11:g.109847071_109847079del, NC_000012.11:g.109847072_109847079del, NC_000012.11:g.109847073_109847079del, NC_000012.11:g.109847074_109847079del, NC_000012.11:g.109847075_109847079del, NC_000012.11:g.109847076_109847079del, NC_000012.11:g.109847077_109847079del, NC_000012.11:g.109847078_109847079del, NC_000012.11:g.109847079del, NC_000012.11:g.109847079dup, NC_000012.11:g.109847078_109847079dup, NC_000012.11:g.109847077_109847079dup, NC_000012.11:g.109847076_109847079dup, NC_000012.11:g.109847075_109847079dup, NC_000012.11:g.109847074_109847079dup, NC_000012.11:g.109847073_109847079dup, NC_000012.11:g.109847072_109847079dup, NC_000012.11:g.109847071_109847079dup, NC_000012.11:g.109847070_109847079dup, NC_000012.11:g.109847069_109847079dup, NC_000012.11:g.109847068_109847079dup, NC_000012.11:g.109847067_109847079dup, NC_000012.11:g.109847066_109847079dup, NC_000012.11:g.109847065_109847079dup, NC_000012.11:g.109847064_109847079dup, NC_000012.11:g.109847063_109847079dup, NC_000012.11:g.109847052_109847079T[45]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000012.11:g.109847062_109847079dup, NC_000012.11:g.109847061_109847079dup, NC_000012.11:g.109847059_109847079dup, NC_000012.11:g.109847058_109847079dup, NC_000012.11:g.109847057_109847079dup, NC_000012.11:g.109847056_109847079dup, NC_000012.11:g.109847055_109847079dup, NC_000012.11:g.109847054_109847079dup, NC_000012.11:g.109847053_109847079dup, NC_000012.11:g.109847052_109847079dup, NC_000012.11:g.109847079_109847080insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.109847079_109847080insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.109847079_109847080insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.109847079_109847080insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.109847079_109847080insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
10.
rs1491361986 has merged into rs753515481 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATAT>-,AT,ATATAT
[Show Flanks]
- Chromosome:
- 12:109443216
(GRCh38)
12:109881021
(GRCh37)
- Canonical SPDI:
- NC_000012.12:109443214:TATAT:T,NC_000012.12:109443214:TATAT:TAT,NC_000012.12:109443214:TATAT:TATATAT
- Gene:
- MYO1H (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TAT=0./0
(
ALFA)
-=0.03504/483
(TOMMO)
-=0.04539/67
(Korea1K)
-=0.07605/282
(TWINSUK)
-=0.07706/297
(ALSPAC)
- HGVS:
11.
rs1491357913 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 12:109427316
(GRCh38)
12:109865121
(GRCh37)
- Canonical SPDI:
- NC_000012.12:109427315:CA:
- Gene:
- MYO1H (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.00189/7
(TWINSUK)
-=0.00337/13
(ALSPAC)
- HGVS:
12.
rs1491353956 has merged into rs747073389 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 12:109442805
(GRCh38)
12:109880610
(GRCh37)
- Canonical SPDI:
- NC_000012.12:109442795:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000012.12:109442795:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000012.12:109442795:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000012.12:109442795:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:109442795:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:109442795:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:109442795:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000012.12:109442795:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:109442795:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:109442795:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000012.12:109442795:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000012.12:109442795:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000012.12:109442795:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000012.12:109442795:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:109442795:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:109442795:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:109442795:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:109442795:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:109442795:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:109442795:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:109442795:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:109442795:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:109442795:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:109442795:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:109442795:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:109442795:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:109442795:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:109442795:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:109442795:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- MYO1H (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTT=0./0
(
ALFA)
TTTTTTTTTTTTT=0./0
(GENOME_DK)
- HGVS:
NC_000012.12:g.109442805_109442818del, NC_000012.12:g.109442806_109442818del, NC_000012.12:g.109442807_109442818del, NC_000012.12:g.109442808_109442818del, NC_000012.12:g.109442809_109442818del, NC_000012.12:g.109442810_109442818del, NC_000012.12:g.109442811_109442818del, NC_000012.12:g.109442812_109442818del, NC_000012.12:g.109442813_109442818del, NC_000012.12:g.109442814_109442818del, NC_000012.12:g.109442815_109442818del, NC_000012.12:g.109442816_109442818del, NC_000012.12:g.109442817_109442818del, NC_000012.12:g.109442818del, NC_000012.12:g.109442818dup, NC_000012.12:g.109442817_109442818dup, NC_000012.12:g.109442816_109442818dup, NC_000012.12:g.109442815_109442818dup, NC_000012.12:g.109442814_109442818dup, NC_000012.12:g.109442813_109442818dup, NC_000012.12:g.109442812_109442818dup, NC_000012.12:g.109442811_109442818dup, NC_000012.12:g.109442810_109442818dup, NC_000012.12:g.109442809_109442818dup, NC_000012.12:g.109442806_109442818dup, NC_000012.12:g.109442805_109442818dup, NC_000012.12:g.109442804_109442818dup, NC_000012.12:g.109442803_109442818dup, NC_000012.12:g.109442801_109442818dup, NC_000012.11:g.109880610_109880623del, NC_000012.11:g.109880611_109880623del, NC_000012.11:g.109880612_109880623del, NC_000012.11:g.109880613_109880623del, NC_000012.11:g.109880614_109880623del, NC_000012.11:g.109880615_109880623del, NC_000012.11:g.109880616_109880623del, NC_000012.11:g.109880617_109880623del, NC_000012.11:g.109880618_109880623del, NC_000012.11:g.109880619_109880623del, NC_000012.11:g.109880620_109880623del, NC_000012.11:g.109880621_109880623del, NC_000012.11:g.109880622_109880623del, NC_000012.11:g.109880623del, NC_000012.11:g.109880623dup, NC_000012.11:g.109880622_109880623dup, NC_000012.11:g.109880621_109880623dup, NC_000012.11:g.109880620_109880623dup, NC_000012.11:g.109880619_109880623dup, NC_000012.11:g.109880618_109880623dup, NC_000012.11:g.109880617_109880623dup, NC_000012.11:g.109880616_109880623dup, NC_000012.11:g.109880615_109880623dup, NC_000012.11:g.109880614_109880623dup, NC_000012.11:g.109880611_109880623dup, NC_000012.11:g.109880610_109880623dup, NC_000012.11:g.109880609_109880623dup, NC_000012.11:g.109880608_109880623dup, NC_000012.11:g.109880606_109880623dup
13.
rs1491341701 has merged into rs1491326989 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATAT>-,AT,ATATAT
[Show Flanks]
- Chromosome:
- 12:109443106
(GRCh38)
12:109880911
(GRCh37)
- Canonical SPDI:
- NC_000012.12:109443104:TATAT:T,NC_000012.12:109443104:TATAT:TAT,NC_000012.12:109443104:TATAT:TATATAT
- Gene:
- MYO1H (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TAT=0./0
(
ALFA)
-=0.00012/3
(TOMMO)
- HGVS:
15.
rs1491328386 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->ATATGTGTGTATATGTGTAC
[Show Flanks]
- Chromosome:
- 12:109443153
(GRCh38)
12:109880959
(GRCh37)
- Canonical SPDI:
- NC_000012.12:109443153::ATATGTGTGTATATGTGTAC
- Gene:
- MYO1H (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
ATATGTGTGTATATGTGTAC=0.000035/1
(TOMMO)
ATATGTGTGTATATGTGTAC=0.002061/212
(GnomAD)
- HGVS:
16.
rs1491326989 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATAT>-,AT,ATATAT
[Show Flanks]
- Chromosome:
- 12:109443106
(GRCh38)
12:109880911
(GRCh37)
- Canonical SPDI:
- NC_000012.12:109443104:TATAT:T,NC_000012.12:109443104:TATAT:TAT,NC_000012.12:109443104:TATAT:TATATAT
- Gene:
- MYO1H (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TAT=0./0
(
ALFA)
-=0.00012/3
(TOMMO)
- HGVS:
17.
rs1491314368 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TC>-
[Show Flanks]
- Chromosome:
- 12:109428806
(GRCh38)
12:109866611
(GRCh37)
- Canonical SPDI:
- NC_000012.12:109428804:CTC:C
- Gene:
- MYO1H (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
-=0.000015/4
(TOPMED)
-=0.000034/4
(GnomAD)
-=0.000389/6
(TOMMO)
- HGVS:
18.
rs1491295494 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GT>-
[Show Flanks]
- Chromosome:
- 12:109443104
(GRCh38)
12:109880909
(GRCh37)
- Canonical SPDI:
- NC_000012.12:109443103:GT:
- Gene:
- MYO1H (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.06736/799
(
ALFA)
-=0.0002/12
(GnomAD)
- HGVS:
19.
rs1491278251 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 12:109440699
(GRCh38)
12:109878505
(GRCh37)
- Canonical SPDI:
- NC_000012.12:109440699:GGG:GGGG
- Gene:
- MYO1H (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
GGGG=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
20.
rs1491273794 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TT>-
[Show Flanks]
- Chromosome:
- 12:109411748
(GRCh38)
12:109849553
(GRCh37)
- Canonical SPDI:
- NC_000012.12:109411747:TT:
- Gene:
- MYO1H (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
-=0.0013/5
(ALSPAC)
-=0.0013/5
(TWINSUK)
- HGVS: