Links from Gene
Items: 1 to 20 of 1000
1.
rs1491587004 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GCTCTC
[Show Flanks]
- Chromosome:
- 3:165196898
(GRCh38)
3:164914687
(GRCh37)
- Canonical SPDI:
- NC_000003.12:165196898:CTCTC:CTCTCGCTCTC
- Gene:
- SLITRK3 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
CTCTCGCTCTC=0./0
(
ALFA)
CTCTCG=0.0001/4
(GnomAD)
- HGVS:
2.
rs1491377032 has merged into rs1175637927 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TCTCTCTCTCTCTCTCTC>-,TC,TCTC,TCTCTC,TCTCTCTC,TCTCTCTCTC,TCTCTCTCTCTC,TCTCTCTCTCTCTC,TCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC
[Show Flanks]
- Chromosome:
- 3:165196910
(GRCh38)
3:164914698
(GRCh37)
- Canonical SPDI:
- NC_000003.12:165196897:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTC,NC_000003.12:165196897:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTC,NC_000003.12:165196897:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTC,NC_000003.12:165196897:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTC,NC_000003.12:165196897:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTC,NC_000003.12:165196897:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTC,NC_000003.12:165196897:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTC,NC_000003.12:165196897:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000003.12:165196897:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000003.12:165196897:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000003.12:165196897:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000003.12:165196897:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000003.12:165196897:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000003.12:165196897:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000003.12:165196897:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000003.12:165196897:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000003.12:165196897:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000003.12:165196897:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000003.12:165196897:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000003.12:165196897:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000003.12:165196897:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000003.12:165196897:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000003.12:165196897:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000003.12:165196897:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000003.12:165196897:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000003.12:165196897:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000003.12:165196897:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000003.12:165196897:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000003.12:165196897:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000003.12:165196897:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC
- Gene:
- SLITRK3 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TCTCTCTCTCTCTC=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
- HGVS:
NC_000003.12:g.165196898TC[6], NC_000003.12:g.165196898TC[7], NC_000003.12:g.165196898TC[8], NC_000003.12:g.165196898TC[9], NC_000003.12:g.165196898TC[10], NC_000003.12:g.165196898TC[11], NC_000003.12:g.165196898TC[12], NC_000003.12:g.165196898TC[13], NC_000003.12:g.165196898TC[14], NC_000003.12:g.165196898TC[16], NC_000003.12:g.165196898TC[17], NC_000003.12:g.165196898TC[18], NC_000003.12:g.165196898TC[19], NC_000003.12:g.165196898TC[20], NC_000003.12:g.165196898TC[21], NC_000003.12:g.165196898_165196927TC[21]CT[30]C[1], NC_000003.12:g.165196898TC[22], NC_000003.12:g.165196898_165196927TC[22]CT[28]C[1], NC_000003.12:g.165196898TC[23], NC_000003.12:g.165196898_165196927TC[23]CT[35]C[1], NC_000003.12:g.165196898TC[24], NC_000003.12:g.165196898TC[25], NC_000003.12:g.165196898TC[26], NC_000003.12:g.165196898TC[27], NC_000003.12:g.165196898TC[28], NC_000003.12:g.165196898TC[29], NC_000003.12:g.165196898TC[30], NC_000003.12:g.165196898TC[31], NC_000003.12:g.165196898TC[32], NC_000003.12:g.165196898TC[36], NC_000003.11:g.164914686TC[6], NC_000003.11:g.164914686TC[7], NC_000003.11:g.164914686TC[8], NC_000003.11:g.164914686TC[9], NC_000003.11:g.164914686TC[10], NC_000003.11:g.164914686TC[11], NC_000003.11:g.164914686TC[12], NC_000003.11:g.164914686TC[13], NC_000003.11:g.164914686TC[14], NC_000003.11:g.164914686TC[16], NC_000003.11:g.164914686TC[17], NC_000003.11:g.164914686TC[18], NC_000003.11:g.164914686TC[19], NC_000003.11:g.164914686TC[20], NC_000003.11:g.164914686TC[21], NC_000003.11:g.164914686_164914715TC[21]CT[30]C[1], NC_000003.11:g.164914686TC[22], NC_000003.11:g.164914686_164914715TC[22]CT[28]C[1], NC_000003.11:g.164914686TC[23], NC_000003.11:g.164914686_164914715TC[23]CT[35]C[1], NC_000003.11:g.164914686TC[24], NC_000003.11:g.164914686TC[25], NC_000003.11:g.164914686TC[26], NC_000003.11:g.164914686TC[27], NC_000003.11:g.164914686TC[28], NC_000003.11:g.164914686TC[29], NC_000003.11:g.164914686TC[30], NC_000003.11:g.164914686TC[31], NC_000003.11:g.164914686TC[32], NC_000003.11:g.164914686TC[36]
3.
rs1491358505 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->CTCTCTCT,T,TCT,TCTCTCCTCTCTCT,TCTCTCTCTCTCTCTCTCTCTCTCCTCTCTCT
[Show Flanks]
- Chromosome:
- 3:165196950
(GRCh38)
3:164914739
(GRCh37)
- Canonical SPDI:
- NC_000003.12:165196950::CTCTCTCT,NC_000003.12:165196950::T,NC_000003.12:165196950::TCT,NC_000003.12:165196950::TCTCTCCTCTCTCT,NC_000003.12:165196950::TCTCTCTCTCTCTCTCTCTCTCTCCTCTCTCT
- Gene:
- SLITRK3 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.00651/29
(
ALFA)
T=0.00007/2
(TOMMO)
- HGVS:
4.
rs1491256065 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GC>-
[Show Flanks]
- Chromosome:
- 3:165196951
(GRCh38)
3:164914739
(GRCh37)
- Canonical SPDI:
- NC_000003.12:165196949:CGC:C
- Gene:
- SLITRK3 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency
- MAF:
-=0.000023/3
(GnomAD)
- HGVS:
5.
rs1491238586 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 3:165187253
(GRCh38)
3:164905041
(GRCh37)
- Canonical SPDI:
- NC_000003.12:165187252:TA:
- Gene:
- SLITRK3 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by cluster
- MAF:
-=0.00007/2
(TOMMO)
-=0.01609/62
(ALSPAC)
-=0.01699/63
(TWINSUK)
- HGVS:
6.
rs1490587691 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- T>-
[Show Flanks]
- Chromosome:
- 3:165194500
(GRCh38)
3:164912288
(GRCh37)
- Canonical SPDI:
- NC_000003.12:165194499:TT:T
- Gene:
- SLITRK3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TT=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
- HGVS:
8.
rs1490386444 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 3:165196349
(GRCh38)
3:164914137
(GRCh37)
- Canonical SPDI:
- NC_000003.12:165196348:G:T
- Gene:
- SLITRK3 (Varview)
- Functional Consequence:
- intron_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000021/3
(GnomAD)
- HGVS:
9.
rs1490316717 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 3:165188477
(GRCh38)
3:164906265
(GRCh37)
- Canonical SPDI:
- NC_000003.12:165188476:G:A
- Gene:
- SLITRK3 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000004/1
(GnomAD_exomes)
A=0.000021/3
(GnomAD)
A=0.00003/8
(TOPMED)
- HGVS:
NC_000003.12:g.165188477G>A, NC_000003.11:g.164906265G>A, NM_014926.4:c.2354C>T, NM_014926.3:c.2354C>T, NM_014926.2:c.2354C>T, NM_001318810.2:c.2354C>T, NM_001318810.1:c.2354C>T, NM_001318811.2:c.2354C>T, NM_001318811.1:c.2354C>T, NP_055741.2:p.Pro785Leu, NP_001305739.1:p.Pro785Leu, NP_001305740.1:p.Pro785Leu
10.
rs1490264984 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 3:165187911
(GRCh38)
3:164905699
(GRCh37)
- Canonical SPDI:
- NC_000003.12:165187910:T:C
- Gene:
- SLITRK3 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(GnomAD_exomes)
C=0.000004/1
(TOPMED)
- HGVS:
NC_000003.12:g.165187911T>C, NC_000003.11:g.164905699T>C, NM_014926.4:c.2920A>G, NM_014926.3:c.2920A>G, NM_014926.2:c.2920A>G, NM_001318810.2:c.2920A>G, NM_001318810.1:c.2920A>G, NM_001318811.2:c.2920A>G, NM_001318811.1:c.2920A>G, NP_055741.2:p.Thr974Ala, NP_001305739.1:p.Thr974Ala, NP_001305740.1:p.Thr974Ala
11.
rs1490119306 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 3:165195380
(GRCh38)
3:164913168
(GRCh37)
- Canonical SPDI:
- NC_000003.12:165195379:G:A,NC_000003.12:165195379:G:T
- Gene:
- SLITRK3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.00026/4
(
ALFA)
T=0.00089/4
(Estonian)
- HGVS:
12.
rs1490112678 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 3:165189504
(GRCh38)
3:164907292
(GRCh37)
- Canonical SPDI:
- NC_000003.12:165189503:G:A
- Gene:
- SLITRK3 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
A=0.000015/4
(TOPMED)
- HGVS:
NC_000003.12:g.165189504G>A, NC_000003.11:g.164907292G>A, NM_014926.4:c.1327C>T, NM_014926.3:c.1327C>T, NM_014926.2:c.1327C>T, NM_001318810.2:c.1327C>T, NM_001318810.1:c.1327C>T, NM_001318811.2:c.1327C>T, NM_001318811.1:c.1327C>T, NP_055741.2:p.Arg443Cys, NP_001305739.1:p.Arg443Cys, NP_001305740.1:p.Arg443Cys
13.
rs1490060626 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 3:165188001
(GRCh38)
3:164905789
(GRCh37)
- Canonical SPDI:
- NC_000003.12:165188000:T:C
- Gene:
- SLITRK3 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
NC_000003.12:g.165188001T>C, NC_000003.11:g.164905789T>C, NM_014926.4:c.2830A>G, NM_014926.3:c.2830A>G, NM_014926.2:c.2830A>G, NM_001318810.2:c.2830A>G, NM_001318810.1:c.2830A>G, NM_001318811.2:c.2830A>G, NM_001318811.1:c.2830A>G, NP_055741.2:p.Thr944Ala, NP_001305739.1:p.Thr944Ala, NP_001305740.1:p.Thr944Ala
14.
rs1489929060 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 3:165186681
(GRCh38)
3:164904469
(GRCh37)
- Canonical SPDI:
- NC_000003.12:165186680:G:C
- Gene:
- SLITRK3 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
C=0.000021/3
(GnomAD)
- HGVS:
15.
rs1489742724 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 3:165192562
(GRCh38)
3:164910350
(GRCh37)
- Canonical SPDI:
- NC_000003.12:165192561:G:C
- Gene:
- SLITRK3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000015/2
(GnomAD)
C=0.000015/4
(TOPMED)
- HGVS:
16.
rs1489485809 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 3:165197230
(GRCh38)
3:164915018
(GRCh37)
- Canonical SPDI:
- NC_000003.12:165197229:G:A
- Gene:
- SLITRK3 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
17.
rs1489386608 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C,T
[Show Flanks]
- Chromosome:
- 3:165196684
(GRCh38)
3:164914472
(GRCh37)
- Canonical SPDI:
- NC_000003.12:165196683:G:C,NC_000003.12:165196683:G:T
- Gene:
- SLITRK3 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
18.
rs1489200762 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 3:165188827
(GRCh38)
3:164906615
(GRCh37)
- Canonical SPDI:
- NC_000003.12:165188826:G:A
- Gene:
- SLITRK3 (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant
- Validated:
- by frequency
- MAF:
A=0.000004/1
(GnomAD_exomes)
- HGVS:
19.
rs1489023186 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 3:165198395
(GRCh38)
3:164916183
(GRCh37)
- Canonical SPDI:
- NC_000003.12:165198394:A:G
- Gene:
- SLITRK3 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
20.
rs1488990174 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 3:165198092
(GRCh38)
3:164915880
(GRCh37)
- Canonical SPDI:
- NC_000003.12:165198091:T:C
- Gene:
- SLITRK3 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000198/3
(
ALFA)
C=0.000021/3
(GnomAD)
C=0.00067/3
(Estonian)
- HGVS: