Links from Gene
Items: 1 to 20 of 1000
1.
rs1491563091 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CTA
[Show Flanks]
- Chromosome:
- 5:10722578
(GRCh38)
5:10722691
(GRCh37)
- Canonical SPDI:
- NC_000005.10:10722578:TA:TACTA
- Gene:
- DAP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
TAC=0.000007/1
(GnomAD)
- HGVS:
2.
rs1491554153 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GCAT
[Show Flanks]
- Chromosome:
- 5:10722576
(GRCh38)
5:10722689
(GRCh37)
- Canonical SPDI:
- NC_000005.10:10722576:CAT:CATGCAT
- Gene:
- DAP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CATGCAT=0./0
(
ALFA)
CATG=0.000008/1
(GnomAD)
CATG=0.000011/3
(TOPMED)
- HGVS:
4.
rs1491424546 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AG>-
[Show Flanks]
- Chromosome:
- 5:10689888
(GRCh38)
5:10690000
(GRCh37)
- Canonical SPDI:
- NC_000005.10:10689887:AG:
- Gene:
- DAP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
- HGVS:
5.
rs1491405431 has merged into rs10596228 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ACACACACACACAC>-,AC,ACAC,ACACAC,ACACACAC,ACACACACAC,ACACACACACAC,ACACACACACACACAC,ACACACACACACACACAC,ACACACACACACACACACAC,ACACACACACACACACACACAC,ACACACACACACACACACACACAC,ACACACACACACACACACACACACAC,ACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACAC
[Show Flanks]
- Chromosome:
- 5:10693140
(GRCh38)
5:10693252
(GRCh37)
- Canonical SPDI:
- NC_000005.10:10693124:CACACACACACACACACACACACACACAC:CACACACACACACAC,NC_000005.10:10693124:CACACACACACACACACACACACACACAC:CACACACACACACACAC,NC_000005.10:10693124:CACACACACACACACACACACACACACAC:CACACACACACACACACAC,NC_000005.10:10693124:CACACACACACACACACACACACACACAC:CACACACACACACACACACAC,NC_000005.10:10693124:CACACACACACACACACACACACACACAC:CACACACACACACACACACACAC,NC_000005.10:10693124:CACACACACACACACACACACACACACAC:CACACACACACACACACACACACAC,NC_000005.10:10693124:CACACACACACACACACACACACACACAC:CACACACACACACACACACACACACAC,NC_000005.10:10693124:CACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACAC,NC_000005.10:10693124:CACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACAC,NC_000005.10:10693124:CACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACAC,NC_000005.10:10693124:CACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACAC,NC_000005.10:10693124:CACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACAC,NC_000005.10:10693124:CACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACAC,NC_000005.10:10693124:CACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACAC,NC_000005.10:10693124:CACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACAC,NC_000005.10:10693124:CACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACAC
- Gene:
- DAP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CACACACACACACACAC=0./0
(
ALFA)
CACACACA=0.00102/270
(TOPMED)
CACACA=0.426717/2137
(1000Genomes)
- HGVS:
NC_000005.10:g.10693126AC[7], NC_000005.10:g.10693126AC[8], NC_000005.10:g.10693126AC[9], NC_000005.10:g.10693126AC[10], NC_000005.10:g.10693126AC[11], NC_000005.10:g.10693126AC[12], NC_000005.10:g.10693126AC[13], NC_000005.10:g.10693126AC[15], NC_000005.10:g.10693126AC[16], NC_000005.10:g.10693126AC[17], NC_000005.10:g.10693126AC[18], NC_000005.10:g.10693126AC[19], NC_000005.10:g.10693126AC[20], NC_000005.10:g.10693126AC[21], NC_000005.10:g.10693126AC[22], NC_000005.10:g.10693126AC[23], NC_000005.9:g.10693238AC[7], NC_000005.9:g.10693238AC[8], NC_000005.9:g.10693238AC[9], NC_000005.9:g.10693238AC[10], NC_000005.9:g.10693238AC[11], NC_000005.9:g.10693238AC[12], NC_000005.9:g.10693238AC[13], NC_000005.9:g.10693238AC[15], NC_000005.9:g.10693238AC[16], NC_000005.9:g.10693238AC[17], NC_000005.9:g.10693238AC[18], NC_000005.9:g.10693238AC[19], NC_000005.9:g.10693238AC[20], NC_000005.9:g.10693238AC[21], NC_000005.9:g.10693238AC[22], NC_000005.9:g.10693238AC[23], NG_011546.1:g.73124TG[7], NG_011546.1:g.73124TG[8], NG_011546.1:g.73124TG[9], NG_011546.1:g.73124TG[10], NG_011546.1:g.73124TG[11], NG_011546.1:g.73124TG[12], NG_011546.1:g.73124TG[13], NG_011546.1:g.73124TG[15], NG_011546.1:g.73124TG[16], NG_011546.1:g.73124TG[17], NG_011546.1:g.73124TG[18], NG_011546.1:g.73124TG[19], NG_011546.1:g.73124TG[20], NG_011546.1:g.73124TG[21], NG_011546.1:g.73124TG[22], NG_011546.1:g.73124TG[23]
7.
rs1491395423 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GT>-
[Show Flanks]
- Chromosome:
- 5:10746333
(GRCh38)
5:10746445
(GRCh37)
- Canonical SPDI:
- NC_000005.10:10746331:TGT:T
- Gene:
- DAP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000506/6
(
ALFA)
-=0.000544/67
(GnomAD)
-=0.000781/5
(1000Genomes)
- HGVS:
8.
rs1491316639 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 5:10687928
(GRCh38)
5:10688040
(GRCh37)
- Canonical SPDI:
- NC_000005.10:10687927:TA:
- Gene:
- DAP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000008/1
(GnomAD)
- HGVS:
9.
rs1491245200 has merged into rs1207672031 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TATATA>-,TA,TATA,TATATATA,TATATATATA
[Show Flanks]
- Chromosome:
- 5:10722581
(GRCh38)
5:10722693
(GRCh37)
- Canonical SPDI:
- NC_000005.10:10722577:ATATATATA:ATA,NC_000005.10:10722577:ATATATATA:ATATA,NC_000005.10:10722577:ATATATATA:ATATATA,NC_000005.10:10722577:ATATATATA:ATATATATATA,NC_000005.10:10722577:ATATATATA:ATATATATATATA
- Gene:
- DAP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000005.10:g.10722579TA[1], NC_000005.10:g.10722579TA[2], NC_000005.10:g.10722579TA[3], NC_000005.10:g.10722579TA[5], NC_000005.10:g.10722579TA[6], NC_000005.9:g.10722691TA[1], NC_000005.9:g.10722691TA[2], NC_000005.9:g.10722691TA[3], NC_000005.9:g.10722691TA[5], NC_000005.9:g.10722691TA[6], NG_011546.1:g.43691AT[1], NG_011546.1:g.43691AT[2], NG_011546.1:g.43691AT[3], NG_011546.1:g.43691AT[5], NG_011546.1:g.43691AT[6]
10.
rs1491218811 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AA>-
[Show Flanks]
- Chromosome:
- 5:10686643
(GRCh38)
5:10686755
(GRCh37)
- Canonical SPDI:
- NC_000005.10:10686642:AA:
- Gene:
- DAP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000014/2
(GnomAD)
-=0.000026/7
(TOPMED)
- HGVS:
11.
rs1491204535 has merged into rs10644743 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 5:10739209
(GRCh38)
5:10739321
(GRCh37)
- Canonical SPDI:
- NC_000005.10:10739201:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAA,NC_000005.10:10739201:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000005.10:10739201:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000005.10:10739201:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:10739201:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:10739201:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:10739201:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:10739201:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:10739201:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:10739201:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:10739201:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:10739201:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:10739201:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000005.10:10739201:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000005.10:10739201:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:10739201:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:10739201:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:10739201:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:10739201:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:10739201:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:10739201:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:10739201:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:10739201:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:10739201:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:10739201:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:10739201:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:10739201:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:10739201:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:10739201:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:10739201:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:10739201:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:10739201:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:10739201:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:10739201:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:10739201:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- DAP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAA=0./0
(
ALFA)
AAAAAAAAAAAAAAAAA=0./0
(GENOME_DK)
- HGVS:
NC_000005.10:g.10739209_10739226del, NC_000005.10:g.10739210_10739226del, NC_000005.10:g.10739212_10739226del, NC_000005.10:g.10739213_10739226del, NC_000005.10:g.10739214_10739226del, NC_000005.10:g.10739215_10739226del, NC_000005.10:g.10739216_10739226del, NC_000005.10:g.10739217_10739226del, NC_000005.10:g.10739218_10739226del, NC_000005.10:g.10739219_10739226del, NC_000005.10:g.10739220_10739226del, NC_000005.10:g.10739221_10739226del, NC_000005.10:g.10739222_10739226del, NC_000005.10:g.10739223_10739226del, NC_000005.10:g.10739224_10739226del, NC_000005.10:g.10739225_10739226del, NC_000005.10:g.10739226del, NC_000005.10:g.10739226dup, NC_000005.10:g.10739225_10739226dup, NC_000005.10:g.10739224_10739226dup, NC_000005.10:g.10739223_10739226dup, NC_000005.10:g.10739222_10739226dup, NC_000005.10:g.10739221_10739226dup, NC_000005.10:g.10739220_10739226dup, NC_000005.10:g.10739219_10739226dup, NC_000005.10:g.10739218_10739226dup, NC_000005.10:g.10739214_10739226dup, NC_000005.10:g.10739213_10739226dup, NC_000005.10:g.10739209_10739226dup, NC_000005.10:g.10739208_10739226dup, NC_000005.10:g.10739207_10739226dup, NC_000005.10:g.10739206_10739226dup, NC_000005.10:g.10739205_10739226dup, NC_000005.10:g.10739203_10739226dup, NC_000005.10:g.10739226_10739227insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.10739321_10739338del, NC_000005.9:g.10739322_10739338del, NC_000005.9:g.10739324_10739338del, NC_000005.9:g.10739325_10739338del, NC_000005.9:g.10739326_10739338del, NC_000005.9:g.10739327_10739338del, NC_000005.9:g.10739328_10739338del, NC_000005.9:g.10739329_10739338del, NC_000005.9:g.10739330_10739338del, NC_000005.9:g.10739331_10739338del, NC_000005.9:g.10739332_10739338del, NC_000005.9:g.10739333_10739338del, NC_000005.9:g.10739334_10739338del, NC_000005.9:g.10739335_10739338del, NC_000005.9:g.10739336_10739338del, NC_000005.9:g.10739337_10739338del, NC_000005.9:g.10739338del, NC_000005.9:g.10739338dup, NC_000005.9:g.10739337_10739338dup, NC_000005.9:g.10739336_10739338dup, NC_000005.9:g.10739335_10739338dup, NC_000005.9:g.10739334_10739338dup, NC_000005.9:g.10739333_10739338dup, NC_000005.9:g.10739332_10739338dup, NC_000005.9:g.10739331_10739338dup, NC_000005.9:g.10739330_10739338dup, NC_000005.9:g.10739326_10739338dup, NC_000005.9:g.10739325_10739338dup, NC_000005.9:g.10739321_10739338dup, NC_000005.9:g.10739320_10739338dup, NC_000005.9:g.10739319_10739338dup, NC_000005.9:g.10739318_10739338dup, NC_000005.9:g.10739317_10739338dup, NC_000005.9:g.10739315_10739338dup, NC_000005.9:g.10739338_10739339insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_011546.1:g.27057_27074del, NG_011546.1:g.27058_27074del, NG_011546.1:g.27060_27074del, NG_011546.1:g.27061_27074del, NG_011546.1:g.27062_27074del, NG_011546.1:g.27063_27074del, NG_011546.1:g.27064_27074del, NG_011546.1:g.27065_27074del, NG_011546.1:g.27066_27074del, NG_011546.1:g.27067_27074del, NG_011546.1:g.27068_27074del, NG_011546.1:g.27069_27074del, NG_011546.1:g.27070_27074del, NG_011546.1:g.27071_27074del, NG_011546.1:g.27072_27074del, NG_011546.1:g.27073_27074del, NG_011546.1:g.27074del, NG_011546.1:g.27074dup, NG_011546.1:g.27073_27074dup, NG_011546.1:g.27072_27074dup, NG_011546.1:g.27071_27074dup, NG_011546.1:g.27070_27074dup, NG_011546.1:g.27069_27074dup, NG_011546.1:g.27068_27074dup, NG_011546.1:g.27067_27074dup, NG_011546.1:g.27066_27074dup, NG_011546.1:g.27062_27074dup, NG_011546.1:g.27061_27074dup, NG_011546.1:g.27057_27074dup, NG_011546.1:g.27056_27074dup, NG_011546.1:g.27055_27074dup, NG_011546.1:g.27054_27074dup, NG_011546.1:g.27053_27074dup, NG_011546.1:g.27051_27074dup, NG_011546.1:g.27074_27075insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
12.
rs1491130002 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 5:10722577
(GRCh38)
5:10722689
(GRCh37)
- Canonical SPDI:
- NC_000005.10:10722575:ACA:A
- Gene:
- DAP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
-=0.000011/3
(TOPMED)
-=0.000023/3
(GnomAD)
- HGVS:
13.
rs1491096146 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TG
[Show Flanks]
- Chromosome:
- 5:10689888
(GRCh38)
5:10690001
(GRCh37)
- Canonical SPDI:
- NC_000005.10:10689888:GTG:GTGTG
- Gene:
- DAP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GTGTG=0./0
(
ALFA)
GT=0.000015/4
(TOPMED)
GT=0.000021/3
(GnomAD)
- HGVS:
14.
rs1490969163 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 5:10696337
(GRCh38)
5:10696449
(GRCh37)
- Canonical SPDI:
- NC_000005.10:10696336:G:A
- Gene:
- DAP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
15.
rs1490929961 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 5:10694255
(GRCh38)
5:10694367
(GRCh37)
- Canonical SPDI:
- NC_000005.10:10694254:C:T
- Gene:
- DAP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000035/1
(TOMMO)
T=0.000546/1
(Korea1K)
- HGVS:
16.
rs1490869867 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 5:10746894
(GRCh38)
5:10747006
(GRCh37)
- Canonical SPDI:
- NC_000005.10:10746893:A:G
- Gene:
- DAP (Varview)
- Functional Consequence:
- 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:
17.
rs1490805598 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 5:10752026
(GRCh38)
5:10752138
(GRCh37)
- Canonical SPDI:
- NC_000005.10:10752025:T:C
- Gene:
- DAP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000015/4
(TOPMED)
- HGVS:
18.
rs1490774960 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 5:10762723
(GRCh38)
5:10762835
(GRCh37)
- Canonical SPDI:
- NC_000005.10:10762722:G:A,NC_000005.10:10762722:G:T
- Gene:
- DAP (Varview), DAP-DT (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
A=0.000035/1
(TOMMO)
- HGVS:
19.
rs1490751040 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 5:10716338
(GRCh38)
5:10716450
(GRCh37)
- Canonical SPDI:
- NC_000005.10:10716337:G:A,NC_000005.10:10716337:G:T
- Gene:
- DAP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
20.
rs1490725949 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
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- Chromosome:
- 5:10730874
(GRCh38)
5:10730986
(GRCh37)
- Canonical SPDI:
- NC_000005.10:10730873:G:A,NC_000005.10:10730873:G:T
- Gene:
- DAP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
T=0.000009/1
(GnomAD)
A=0.000169/4
(TOMMO)
- HGVS: