Links from Gene
Items: 1 to 20 of 1000
1.
rs1491555885 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 14:67602146
(GRCh38)
14:68068864
(GRCh37)
- Canonical SPDI:
- NC_000014.9:67602146:A:AA
- Gene:
- PIGH (Varview), GPHN (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AA=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
A=0.000312/2
(1000Genomes)
- HGVS:
2.
rs1491171605 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 14:67602148
(GRCh38)
14:68068865
(GRCh37)
- Canonical SPDI:
- NC_000014.9:67602145:CACA:CA
- Gene:
- PIGH (Varview), GPHN (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CACA=0./0
(
ALFA)
-=0.000014/2
(GnomAD)
-=0.000015/4
(TOPMED)
- HGVS:
3.
rs1491080151 has merged into rs5809356 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 14:67593500
(GRCh38)
14:68060217
(GRCh37)
- Canonical SPDI:
- NC_000014.9:67593490:AAAAAAAAAAAAA:AAAAAAAAA,NC_000014.9:67593490:AAAAAAAAAAAAA:AAAAAAAAAA,NC_000014.9:67593490:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000014.9:67593490:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000014.9:67593490:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000014.9:67593490:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000014.9:67593490:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
- Gene:
- PIGH (Varview), GPHN (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAA=0.0002/1
(
ALFA)
A=0.0879/326
(TWINSUK)
A=0.0934/360
(ALSPAC)
A=0.125/5
(GENOME_DK)
A=0.2095/1049
(1000Genomes)
- HGVS:
NC_000014.9:g.67593500_67593503del, NC_000014.9:g.67593501_67593503del, NC_000014.9:g.67593502_67593503del, NC_000014.9:g.67593503del, NC_000014.9:g.67593503dup, NC_000014.9:g.67593502_67593503dup, NC_000014.9:g.67593497_67593503dup, NC_000014.8:g.68060217_68060220del, NC_000014.8:g.68060218_68060220del, NC_000014.8:g.68060219_68060220del, NC_000014.8:g.68060220del, NC_000014.8:g.68060220dup, NC_000014.8:g.68060219_68060220dup, NC_000014.8:g.68060214_68060220dup, NG_050632.2:g.11809_11812del, NG_050632.2:g.11810_11812del, NG_050632.2:g.11811_11812del, NG_050632.2:g.11812del, NG_050632.2:g.11812dup, NG_050632.2:g.11811_11812dup, NG_050632.2:g.11806_11812dup
4.
rs1490819561 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 14:67594977
(GRCh38)
14:68061694
(GRCh37)
- Canonical SPDI:
- NC_000014.9:67594976:A:T
- Gene:
- PIGH (Varview), GPHN (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
5.
rs1490618817 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 14:67594490
(GRCh38)
14:68061207
(GRCh37)
- Canonical SPDI:
- NC_000014.9:67594489:T:C
- Gene:
- PIGH (Varview), GPHN (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
6.
rs1490329115 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 14:67594588
(GRCh38)
14:68061305
(GRCh37)
- Canonical SPDI:
- NC_000014.9:67594587:G:T
- Gene:
- PIGH (Varview), GPHN (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
7.
rs1489988645 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-
[Show Flanks]
- Chromosome:
- 14:67592446
(GRCh38)
14:68059163
(GRCh37)
- Canonical SPDI:
- NC_000014.9:67592443:AAAA:AA
- Gene:
- PIGH (Varview), GPHN (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAA=0./0
(
ALFA)
-=0.000026/7
(TOPMED)
-=0.000094/5
(GnomAD_exomes)
- HGVS:
8.
rs1489547479 has merged into rs772451900 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 14:67596308
(GRCh38)
14:68063025
(GRCh37)
- Canonical SPDI:
- NC_000014.9:67596295:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000014.9:67596295:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000014.9:67596295:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000014.9:67596295:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000014.9:67596295:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000014.9:67596295:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000014.9:67596295:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000014.9:67596295:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000014.9:67596295:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000014.9:67596295:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:67596295:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:67596295:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:67596295:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:67596295:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:67596295:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:67596295:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:67596295:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:67596295:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:67596295:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:67596295:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:67596295:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:67596295:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:67596295:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- PIGH (Varview), GPHN (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.075/3
(GENOME_DK)
- HGVS:
NC_000014.9:g.67596308_67596320del, NC_000014.9:g.67596310_67596320del, NC_000014.9:g.67596311_67596320del, NC_000014.9:g.67596312_67596320del, NC_000014.9:g.67596313_67596320del, NC_000014.9:g.67596314_67596320del, NC_000014.9:g.67596315_67596320del, NC_000014.9:g.67596316_67596320del, NC_000014.9:g.67596317_67596320del, NC_000014.9:g.67596318_67596320del, NC_000014.9:g.67596319_67596320del, NC_000014.9:g.67596320del, NC_000014.9:g.67596320dup, NC_000014.9:g.67596319_67596320dup, NC_000014.9:g.67596318_67596320dup, NC_000014.9:g.67596317_67596320dup, NC_000014.9:g.67596316_67596320dup, NC_000014.9:g.67596315_67596320dup, NC_000014.9:g.67596314_67596320dup, NC_000014.9:g.67596313_67596320dup, NC_000014.9:g.67596312_67596320dup, NC_000014.9:g.67596311_67596320dup, NC_000014.9:g.67596310_67596320dup, NC_000014.8:g.68063025_68063037del, NC_000014.8:g.68063027_68063037del, NC_000014.8:g.68063028_68063037del, NC_000014.8:g.68063029_68063037del, NC_000014.8:g.68063030_68063037del, NC_000014.8:g.68063031_68063037del, NC_000014.8:g.68063032_68063037del, NC_000014.8:g.68063033_68063037del, NC_000014.8:g.68063034_68063037del, NC_000014.8:g.68063035_68063037del, NC_000014.8:g.68063036_68063037del, NC_000014.8:g.68063037del, NC_000014.8:g.68063037dup, NC_000014.8:g.68063036_68063037dup, NC_000014.8:g.68063035_68063037dup, NC_000014.8:g.68063034_68063037dup, NC_000014.8:g.68063033_68063037dup, NC_000014.8:g.68063032_68063037dup, NC_000014.8:g.68063031_68063037dup, NC_000014.8:g.68063030_68063037dup, NC_000014.8:g.68063029_68063037dup, NC_000014.8:g.68063028_68063037dup, NC_000014.8:g.68063027_68063037dup, NG_050632.2:g.8995_9007del, NG_050632.2:g.8997_9007del, NG_050632.2:g.8998_9007del, NG_050632.2:g.8999_9007del, NG_050632.2:g.9000_9007del, NG_050632.2:g.9001_9007del, NG_050632.2:g.9002_9007del, NG_050632.2:g.9003_9007del, NG_050632.2:g.9004_9007del, NG_050632.2:g.9005_9007del, NG_050632.2:g.9006_9007del, NG_050632.2:g.9007del, NG_050632.2:g.9007dup, NG_050632.2:g.9006_9007dup, NG_050632.2:g.9005_9007dup, NG_050632.2:g.9004_9007dup, NG_050632.2:g.9003_9007dup, NG_050632.2:g.9002_9007dup, NG_050632.2:g.9001_9007dup, NG_050632.2:g.9000_9007dup, NG_050632.2:g.8999_9007dup, NG_050632.2:g.8998_9007dup, NG_050632.2:g.8997_9007dup
9.
rs1489327394 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:67597287
(GRCh38)
14:68064004
(GRCh37)
- Canonical SPDI:
- NC_000014.9:67597286:G:A
- Gene:
- PIGH (Varview), GPHN (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
10.
rs1489256197 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 14:67592861
(GRCh38)
14:68059578
(GRCh37)
- Canonical SPDI:
- NC_000014.9:67592860:C:A,NC_000014.9:67592860:C:T
- Gene:
- PIGH (Varview), GPHN (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000021/3
(GnomAD)
- HGVS:
11.
rs1489153890 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:67590403
(GRCh38)
14:68057120
(GRCh37)
- Canonical SPDI:
- NC_000014.9:67590402:C:T
- Gene:
- PIGH (Varview), GPHN (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency
- MAF:
T=0.000007/1
(GnomAD)
- HGVS:
12.
rs1488975217 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 14:67593791
(GRCh38)
14:68060509
(GRCh37)
- Canonical SPDI:
- NC_000014.9:67593791:A:AA
- Gene:
- PIGH (Varview), GPHN (Varview)
- Functional Consequence:
- coding_sequence_variant,genic_downstream_transcript_variant,frameshift_variant,intron_variant
- Validated:
- by frequency
- MAF:
A=0.000004/1
(GnomAD_exomes)
- HGVS:
NC_000014.9:g.67593792dup, NC_000014.8:g.68060509dup, NG_050632.2:g.11511dup, NM_004569.5:c.341dup, NM_004569.4:c.341dup, NM_004569.3:c.341dup, NM_001363694.1:c.341dup, XM_011536838.4:c.341dup, XM_011536838.3:c.341dup, XM_011536838.2:c.341dup, XM_011536838.1:c.341dup, XM_017021371.3:c.341dup, XM_017021371.2:c.341dup, XM_017021371.1:c.341dup, NP_004560.1:p.Glu115fs, NP_001350623.1:p.Glu115fs, XP_011535140.1:p.Glu115fs, XP_016876860.1:p.Glu115fs
13.
rs1488636911 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 14:67600190
(GRCh38)
14:68066907
(GRCh37)
- Canonical SPDI:
- NC_000014.9:67600189:C:A,NC_000014.9:67600189:C:T
- Gene:
- PIGH (Varview), GPHN (Varview)
- Functional Consequence:
- coding_sequence_variant,genic_downstream_transcript_variant,intron_variant,missense_variant
- Validated:
- by cluster
- HGVS:
NC_000014.9:g.67600190C>A, NC_000014.9:g.67600190C>T, NC_000014.8:g.68066907C>A, NC_000014.8:g.68066907C>T, NG_050632.2:g.5113G>T, NG_050632.2:g.5113G>A, NM_004569.5:c.14G>T, NM_004569.5:c.14G>A, NM_004569.4:c.14G>T, NM_004569.4:c.14G>A, NM_004569.3:c.14G>T, NM_004569.3:c.14G>A, NM_001363694.1:c.14G>T, NM_001363694.1:c.14G>A, XM_011536838.4:c.14G>T, XM_011536838.4:c.14G>A, XM_011536838.3:c.14G>T, XM_011536838.3:c.14G>A, XM_011536838.2:c.14G>T, XM_011536838.2:c.14G>A, XM_011536838.1:c.14G>T, XM_011536838.1:c.14G>A, XM_017021371.3:c.14G>T, XM_017021371.3:c.14G>A, XM_017021371.2:c.14G>T, XM_017021371.2:c.14G>A, XM_017021371.1:c.14G>T, XM_017021371.1:c.14G>A, NP_004560.1:p.Arg5Leu, NP_004560.1:p.Arg5Gln, NP_001350623.1:p.Arg5Leu, NP_001350623.1:p.Arg5Gln, XP_011535140.1:p.Arg5Leu, XP_011535140.1:p.Arg5Gln, XP_016876860.1:p.Arg5Leu, XP_016876860.1:p.Arg5Gln
14.
rs1488523452 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:67593055
(GRCh38)
14:68059772
(GRCh37)
- Canonical SPDI:
- NC_000014.9:67593054:G:A
- Gene:
- PIGH (Varview), GPHN (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000026/7
(TOPMED)
A=0.000248/4
(TOMMO)
A=0.000546/1
(Korea1K)
A=0.000684/2
(KOREAN)
- HGVS:
15.
rs1488458525 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 14:67598729
(GRCh38)
14:68065446
(GRCh37)
- Canonical SPDI:
- NC_000014.9:67598728:A:T
- Gene:
- PIGH (Varview), GPHN (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by cluster
- MAF:
T=0.00259/73
(TOMMO)
- HGVS:
16.
rs1488451380 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 14:67600281
(GRCh38)
14:68066998
(GRCh37)
- Canonical SPDI:
- NC_000014.9:67600280:C:G
- Gene:
- PIGH (Varview), GPHN (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
NC_000014.9:g.67600281C>G, NC_000014.8:g.68066998C>G, NG_050632.2:g.5022G>C, NM_001363694.1:c.-78G>C, XM_011536838.4:c.-78G>C, XM_011536838.3:c.-78G>C, XM_011536838.2:c.-78G>C, XM_011536838.1:c.-78G>C, NM_004569.4:c.-78G>C, XM_017021371.3:c.-78G>C, XM_017021371.2:c.-78G>C, XM_017021371.1:c.-78G>C, NM_004569.3:c.-78G>C
17.
rs1487876242 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 14:67590686
(GRCh38)
14:68057403
(GRCh37)
- Canonical SPDI:
- NC_000014.9:67590685:A:G
- Gene:
- PIGH (Varview), GPHN (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000224/1
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000223/1
(Estonian)
- HGVS:
18.
rs1487690521 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 14:67589526
(GRCh38)
14:68056243
(GRCh37)
- Canonical SPDI:
- NC_000014.9:67589525:T:G
- Gene:
- PIGH (Varview), GPHN (Varview), PLEKHH1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000045/12
(TOPMED)
- HGVS:
NC_000014.9:g.67589526T>G, NC_000014.8:g.68056243T>G, NG_050632.2:g.15777A>C, NM_004569.5:c.*554A>C, NM_004569.4:c.*554A>C, NM_004569.3:c.*554A>C, NM_001363694.1:c.*554A>C, XM_011536838.4:c.*619A>C, XM_011536838.3:c.*619A>C, XM_011536838.2:c.*619A>C, XM_011537015.3:c.*2291T>G, XM_011537015.2:c.*2291T>G, XM_011537015.1:c.*2291T>G, NM_020715.3:c.*2291T>G, NM_020715.2:c.*2291T>G, XM_017021371.3:c.*619A>C, XM_017021371.2:c.*619A>C, XM_017021371.1:c.*619A>C, XM_017021502.2:c.*2291T>G, XM_017021502.1:c.*2291T>G, XM_011537009.2:c.*2291T>G, XM_011537009.1:c.*2291T>G, XM_017021499.2:c.*2291T>G, XM_017021499.1:c.*2291T>G, XM_017021500.2:c.*2291T>G, XM_017021500.1:c.*2291T>G, XM_017021501.2:c.*2291T>G, XM_017021501.1:c.*2291T>G, XM_047431621.1:c.*2291T>G, XM_047431620.1:c.*2291T>G
19.
rs1487620751 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GT>-
[Show Flanks]
- Chromosome:
- 14:67592822
(GRCh38)
14:68059539
(GRCh37)
- Canonical SPDI:
- NC_000014.9:67592820:TGT:T
- Gene:
- PIGH (Varview), GPHN (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
- HGVS:
20.
rs1487570653 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 14:67591676
(GRCh38)
14:68058393
(GRCh37)
- Canonical SPDI:
- NC_000014.9:67591675:T:C
- Gene:
- PIGH (Varview), GPHN (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS: