Links from Gene
Items: 1 to 20 of 2788
2.
rs1491273879 has merged into rs1050358115 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GGGGGG>-,GGGGG,GGGGGGG,GGGGGGGG,GGGGGGGGG
[Show Flanks]
- Chromosome:
- 12:51238668
(GRCh38)
12:51632452
(GRCh37)
- Canonical SPDI:
- NC_000012.12:51238664:GGGGGGGGG:GGG,NC_000012.12:51238664:GGGGGGGGG:GGGGGGGG,NC_000012.12:51238664:GGGGGGGGG:GGGGGGGGGG,NC_000012.12:51238664:GGGGGGGGG:GGGGGGGGGGG,NC_000012.12:51238664:GGGGGGGGG:GGGGGGGGGGGG
- Gene:
- DAZAP2 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000012.12:g.51238668_51238673del, NC_000012.12:g.51238673del, NC_000012.12:g.51238673dup, NC_000012.12:g.51238672_51238673dup, NC_000012.12:g.51238671_51238673dup, NC_000012.11:g.51632452_51632457del, NC_000012.11:g.51632457del, NC_000012.11:g.51632457dup, NC_000012.11:g.51632456_51632457dup, NC_000012.11:g.51632455_51632457dup, NG_056584.1:g.164_169del, NG_056584.1:g.169del, NG_056584.1:g.169dup, NG_056584.1:g.168_169dup, NG_056584.1:g.167_169dup
3.
rs1491005477 has merged into rs59561227 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTGTGTGTGTGTGTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
[Show Flanks]
- Chromosome:
- 12:51246618
(GRCh38)
12:51640402
(GRCh37)
- Canonical SPDI:
- NC_000012.12:51246604:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGT,NC_000012.12:51246604:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000012.12:51246604:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000012.12:51246604:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000012.12:51246604:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000012.12:51246604:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000012.12:51246604:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000012.12:51246604:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000012.12:51246604:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000012.12:51246604:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000012.12:51246604:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000012.12:51246604:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000012.12:51246604:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000012.12:51246604:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000012.12:51246604:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000012.12:51246604:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000012.12:51246604:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000012.12:51246604:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000012.12:51246604:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000012.12:51246604:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000012.12:51246604:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000012.12:51246604:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000012.12:51246604:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
- Gene:
- DAZAP2 (Varview), SMAGP (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGTGTGTGTGTGTGT=0./0
(
ALFA)
- HGVS:
NC_000012.12:g.51246606GT[6], NC_000012.12:g.51246606GT[7], NC_000012.12:g.51246606GT[8], NC_000012.12:g.51246606GT[9], NC_000012.12:g.51246606GT[10], NC_000012.12:g.51246606GT[11], NC_000012.12:g.51246606GT[12], NC_000012.12:g.51246606GT[13], NC_000012.12:g.51246606GT[14], NC_000012.12:g.51246606GT[15], NC_000012.12:g.51246606GT[16], NC_000012.12:g.51246606GT[18], NC_000012.12:g.51246606GT[19], NC_000012.12:g.51246606GT[20], NC_000012.12:g.51246606GT[21], NC_000012.12:g.51246606GT[22], NC_000012.12:g.51246606GT[23], NC_000012.12:g.51246606GT[24], NC_000012.12:g.51246606GT[25], NC_000012.12:g.51246606GT[26], NC_000012.12:g.51246606GT[27], NC_000012.12:g.51246606GT[28], NC_000012.12:g.51246606GT[29], NC_000012.11:g.51640390GT[6], NC_000012.11:g.51640390GT[7], NC_000012.11:g.51640390GT[8], NC_000012.11:g.51640390GT[9], NC_000012.11:g.51640390GT[10], NC_000012.11:g.51640390GT[11], NC_000012.11:g.51640390GT[12], NC_000012.11:g.51640390GT[13], NC_000012.11:g.51640390GT[14], NC_000012.11:g.51640390GT[15], NC_000012.11:g.51640390GT[16], NC_000012.11:g.51640390GT[18], NC_000012.11:g.51640390GT[19], NC_000012.11:g.51640390GT[20], NC_000012.11:g.51640390GT[21], NC_000012.11:g.51640390GT[22], NC_000012.11:g.51640390GT[23], NC_000012.11:g.51640390GT[24], NC_000012.11:g.51640390GT[25], NC_000012.11:g.51640390GT[26], NC_000012.11:g.51640390GT[27], NC_000012.11:g.51640390GT[28], NC_000012.11:g.51640390GT[29], NM_001136269.2:c.*462GT[6], NM_001136269.2:c.*462GT[7], NM_001136269.2:c.*462GT[8], NM_001136269.2:c.*462GT[9], NM_001136269.2:c.*462GT[10], NM_001136269.2:c.*462GT[11], NM_001136269.2:c.*462GT[12], NM_001136269.2:c.*462GT[13], NM_001136269.2:c.*462GT[14], NM_001136269.2:c.*462GT[15], NM_001136269.2:c.*462GT[16], NM_001136269.2:c.*462GT[18], NM_001136269.2:c.*462GT[19], NM_001136269.2:c.*462GT[20], NM_001136269.2:c.*462GT[21], NM_001136269.2:c.*462GT[22], NM_001136269.2:c.*462GT[23], NM_001136269.2:c.*462GT[24], NM_001136269.2:c.*462GT[25], NM_001136269.2:c.*462GT[26], NM_001136269.2:c.*462GT[27], NM_001136269.2:c.*462GT[28], NM_001136269.2:c.*462GT[29], NM_001136269.1:c.*462GT[6], NM_001136269.1:c.*462GT[7], NM_001136269.1:c.*462GT[8], NM_001136269.1:c.*462GT[9], NM_001136269.1:c.*462GT[10], NM_001136269.1:c.*462GT[11], NM_001136269.1:c.*462GT[12], NM_001136269.1:c.*462GT[13], NM_001136269.1:c.*462GT[14], NM_001136269.1:c.*462GT[15], NM_001136269.1:c.*462GT[16], NM_001136269.1:c.*462GT[18], NM_001136269.1:c.*462GT[19], NM_001136269.1:c.*462GT[20], NM_001136269.1:c.*462GT[21], NM_001136269.1:c.*462GT[22], NM_001136269.1:c.*462GT[23], NM_001136269.1:c.*462GT[24], NM_001136269.1:c.*462GT[25], NM_001136269.1:c.*462GT[26], NM_001136269.1:c.*462GT[27], NM_001136269.1:c.*462GT[28], NM_001136269.1:c.*462GT[29]
4.
rs1490777157 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:51244385
(GRCh38)
12:51638169
(GRCh37)
- Canonical SPDI:
- NC_000012.12:51244384:C:T
- Gene:
- DAZAP2 (Varview), SMAGP (Varview)
- Functional Consequence:
- downstream_transcript_variant,genic_downstream_transcript_variant,500B_downstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000026/7
(TOPMED)
T=0.000029/4
(GnomAD)
- HGVS:
5.
rs1490699116 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GA
[Show Flanks]
- Chromosome:
- 12:51243659
(GRCh38)
12:51637444
(GRCh37)
- Canonical SPDI:
- NC_000012.12:51243659:A:AGA
- Gene:
- DAZAP2 (Varview)
- Functional Consequence:
- intron_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AGA=0.000071/1
(
ALFA)
AG=0.000007/1
(GnomAD)
AG=0.000011/3
(TOPMED)
- HGVS:
NC_000012.12:g.51243660_51243661insGA, NC_000012.11:g.51637444_51637445insGA, NM_014764.4:c.*1202_*1203insGA, NM_014764.3:c.*1202_*1203insGA, NM_001136264.2:c.*1202_*1203insGA, NM_001136264.1:c.*1202_*1203insGA, NM_001136266.2:c.*1008_*1009insGA, NM_001136266.1:c.*1008_*1009insGA, NM_001136267.2:c.*1202_*1203insGA, NM_001136267.1:c.*1202_*1203insGA, NM_001136268.2:c.*1202_*1203insGA, NM_001136268.1:c.*1202_*1203insGA
6.
rs1490643746 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 12:51238859
(GRCh38)
12:51632643
(GRCh37)
- Canonical SPDI:
- NC_000012.12:51238858:A:C
- Gene:
- DAZAP2 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant
- Validated:
- by frequency
- MAF:
C=0.000004/1
(GnomAD_exomes)
- HGVS:
NC_000012.12:g.51238859A>C, NC_000012.11:g.51632643A>C, NG_056584.1:g.355A>C, NM_014764.4:c.-49A>C, NM_014764.3:c.-49A>C, NM_001136264.2:c.-49A>C, NM_001136264.1:c.-49A>C, NM_001136266.2:c.-49A>C, NM_001136266.1:c.-49A>C, NM_001136267.2:c.-49A>C, NM_001136267.1:c.-49A>C, NM_001136268.2:c.-49A>C, NM_001136268.1:c.-49A>C, NM_001136269.2:c.-49A>C, NM_001136269.1:c.-49A>C
7.
rs1490536903 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:51243165
(GRCh38)
12:51636949
(GRCh37)
- Canonical SPDI:
- NC_000012.12:51243164:G:A
- Gene:
- DAZAP2 (Varview)
- Functional Consequence:
- intron_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
NC_000012.12:g.51243165G>A, NC_000012.11:g.51636949G>A, NM_014764.4:c.*707G>A, NM_014764.3:c.*707G>A, NM_001136264.2:c.*707G>A, NM_001136264.1:c.*707G>A, NM_001136266.2:c.*513G>A, NM_001136266.1:c.*513G>A, NM_001136267.2:c.*707G>A, NM_001136267.1:c.*707G>A, NM_001136268.2:c.*707G>A, NM_001136268.1:c.*707G>A
8.
rs1490426751 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 12:51237182
(GRCh38)
12:51630966
(GRCh37)
- Canonical SPDI:
- NC_000012.12:51237181:G:T
- Gene:
- DAZAP2 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_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:
9.
rs1490238120 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 12:51244957
(GRCh38)
12:51638741
(GRCh37)
- Canonical SPDI:
- NC_000012.12:51244956:T:G
- Gene:
- DAZAP2 (Varview), SMAGP (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
10.
rs1490209701 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 12:51244115
(GRCh38)
12:51637899
(GRCh37)
- Canonical SPDI:
- NC_000012.12:51244114:G:C
- Gene:
- DAZAP2 (Varview), SMAGP (Varview)
- Functional Consequence:
- downstream_transcript_variant,genic_downstream_transcript_variant,500B_downstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
11.
rs1489970042 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 12:51237457
(GRCh38)
12:51631241
(GRCh37)
- Canonical SPDI:
- NC_000012.12:51237456:T:A
- Gene:
- DAZAP2 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
T=0.5/5
(SGDP_PRJ)
- HGVS:
12.
rs1489946204 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->AA,AAA,TAAAAA
[Show Flanks]
- Chromosome:
- 12:51238050
(GRCh38)
12:51631835
(GRCh37)
- Canonical SPDI:
- NC_000012.12:51238050:AAAAA:AAAAAAA,NC_000012.12:51238050:AAAAA:AAAAAAAA,NC_000012.12:51238050:AAAAA:AAAAATAAAAA
- Gene:
- DAZAP2 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAA=0./0
(
ALFA)
AA=0.000007/1
(GnomAD)
AA=0.000425/7
(TOMMO)
AA=0.000546/1
(Korea1K)
- HGVS:
13.
rs1489749000 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:51239844
(GRCh38)
12:51633628
(GRCh37)
- Canonical SPDI:
- NC_000012.12:51239843:C:T
- Gene:
- DAZAP2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000023/6
(TOPMED)
T=0.000036/5
(GnomAD)
- HGVS:
14.
rs1489745529 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:51243086
(GRCh38)
12:51636870
(GRCh37)
- Canonical SPDI:
- NC_000012.12:51243085:C:T
- Gene:
- DAZAP2 (Varview)
- Functional Consequence:
- intron_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
NC_000012.12:g.51243086C>T, NC_000012.11:g.51636870C>T, NM_014764.4:c.*628C>T, NM_014764.3:c.*628C>T, NM_001136264.2:c.*628C>T, NM_001136264.1:c.*628C>T, NM_001136266.2:c.*434C>T, NM_001136266.1:c.*434C>T, NM_001136267.2:c.*628C>T, NM_001136267.1:c.*628C>T, NM_001136268.2:c.*628C>T, NM_001136268.1:c.*628C>T
15.
rs1489584606 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 12:51240497
(GRCh38)
12:51634281
(GRCh37)
- Canonical SPDI:
- NC_000012.12:51240496:A:G
- Gene:
- DAZAP2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
16.
rs1489557445 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:51246742
(GRCh38)
12:51640526
(GRCh37)
- Canonical SPDI:
- NC_000012.12:51246741:G:A
- Gene:
- DAZAP2 (Varview), SMAGP (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant,intron_variant
- Validated:
- by frequency,by cluster
- MAF:
A=0.000007/1
(GnomAD)
- HGVS:
17.
rs1489531001 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 12:51241147
(GRCh38)
12:51634931
(GRCh37)
- Canonical SPDI:
- NC_000012.12:51241146:C:G
- Gene:
- DAZAP2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
G=0.000004/1
(GnomAD_exomes)
- HGVS:
18.
rs1489445996 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 12:51238710
(GRCh38)
12:51632494
(GRCh37)
- Canonical SPDI:
- NC_000012.12:51238709:T:C,NC_000012.12:51238709:T:G
- Gene:
- DAZAP2 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000169/2
(
ALFA)
C=0.000008/2
(TOPMED)
G=0.000731/95
(GnomAD)
G=0.002159/36
(TOMMO)
G=0.02699/78
(KOREAN)
- HGVS:
19.
rs1489433492 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 12:51240875
(GRCh38)
12:51634659
(GRCh37)
- Canonical SPDI:
- NC_000012.12:51240874:A:G
- Gene:
- DAZAP2 (Varview)
- Functional Consequence:
- intron_variant,coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000028/1
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000016/4
(GnomAD_exomes)
G=0.000019/5
(TOPMED)
- HGVS:
NC_000012.12:g.51240875A>G, NC_000012.11:g.51634659A>G, NM_014764.4:c.137A>G, NM_014764.3:c.137A>G, NM_001136264.2:c.137A>G, NM_001136264.1:c.137A>G, NM_001136266.2:c.137A>G, NM_001136266.1:c.137A>G, NM_001136269.2:c.137A>G, NM_001136269.1:c.137A>G, NP_055579.1:p.Tyr46Cys, NP_001129736.1:p.Tyr46Cys, NP_001129738.1:p.Tyr46Cys, NP_001129741.1:p.Tyr46Cys
20.
rs1488565001 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:51237715
(GRCh38)
12:51631499
(GRCh37)
- Canonical SPDI:
- NC_000012.12:51237714:C:T
- Gene:
- DAZAP2 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000084/1
(
ALFA)
T=0.000145/17
(GnomAD)
- HGVS: