Links from Nucleotide
Items: 1 to 20 of 14088
1.
rs1491577214 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GT
[Show Flanks]
- Chromosome:
- 17:2358874
(GRCh38)
17:2262169
(GRCh37)
- Canonical SPDI:
- NC_000017.11:2358874:T:TGT
- Gene:
- SGSM2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGT=0.007/83
(
ALFA)
TG=0.01039/514
(GnomAD)
- HGVS:
4.
rs1491278958 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GG>-
[Show Flanks]
- Chromosome:
- 17:2342745
(GRCh38)
17:2246039
(GRCh37)
- Canonical SPDI:
- NC_000017.11:2342743:GGG:G
- Gene:
- SGSM2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
-=0.000009/1
(GnomAD)
- HGVS:
5.
rs1491162643 has merged into rs71150860 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTTTTTTTTT>-,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 17:2352774
(GRCh38)
17:2256068
(GRCh37)
- Canonical SPDI:
- NC_000017.11:2352767:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTT,NC_000017.11:2352767:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000017.11:2352767:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:2352767:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:2352767:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:2352767:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:2352767:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:2352767:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:2352767:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:2352767:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:2352767:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000017.11:2352767:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000017.11:2352767:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:2352767:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:2352767:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:2352767:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:2352767:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:2352767:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:2352767:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:2352767:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:2352767:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:2352767:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:2352767:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:2352767:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:2352767:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:2352767:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:2352767:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:2352767:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- SGSM2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000017.11:g.2352774_2352795del, NC_000017.11:g.2352779_2352795del, NC_000017.11:g.2352780_2352795del, NC_000017.11:g.2352781_2352795del, NC_000017.11:g.2352782_2352795del, NC_000017.11:g.2352783_2352795del, NC_000017.11:g.2352784_2352795del, NC_000017.11:g.2352785_2352795del, NC_000017.11:g.2352786_2352795del, NC_000017.11:g.2352787_2352795del, NC_000017.11:g.2352788_2352795del, NC_000017.11:g.2352789_2352795del, NC_000017.11:g.2352790_2352795del, NC_000017.11:g.2352791_2352795del, NC_000017.11:g.2352792_2352795del, NC_000017.11:g.2352793_2352795del, NC_000017.11:g.2352794_2352795del, NC_000017.11:g.2352795del, NC_000017.11:g.2352795dup, NC_000017.11:g.2352794_2352795dup, NC_000017.11:g.2352793_2352795dup, NC_000017.11:g.2352792_2352795dup, NC_000017.11:g.2352791_2352795dup, NC_000017.11:g.2352790_2352795dup, NC_000017.11:g.2352789_2352795dup, NC_000017.11:g.2352788_2352795dup, NC_000017.11:g.2352787_2352795dup, NC_000017.11:g.2352774_2352795dup, NC_000017.10:g.2256068_2256089del, NC_000017.10:g.2256073_2256089del, NC_000017.10:g.2256074_2256089del, NC_000017.10:g.2256075_2256089del, NC_000017.10:g.2256076_2256089del, NC_000017.10:g.2256077_2256089del, NC_000017.10:g.2256078_2256089del, NC_000017.10:g.2256079_2256089del, NC_000017.10:g.2256080_2256089del, NC_000017.10:g.2256081_2256089del, NC_000017.10:g.2256082_2256089del, NC_000017.10:g.2256083_2256089del, NC_000017.10:g.2256084_2256089del, NC_000017.10:g.2256085_2256089del, NC_000017.10:g.2256086_2256089del, NC_000017.10:g.2256087_2256089del, NC_000017.10:g.2256088_2256089del, NC_000017.10:g.2256089del, NC_000017.10:g.2256089dup, NC_000017.10:g.2256088_2256089dup, NC_000017.10:g.2256087_2256089dup, NC_000017.10:g.2256086_2256089dup, NC_000017.10:g.2256085_2256089dup, NC_000017.10:g.2256084_2256089dup, NC_000017.10:g.2256083_2256089dup, NC_000017.10:g.2256082_2256089dup, NC_000017.10:g.2256081_2256089dup, NC_000017.10:g.2256068_2256089dup, NG_051965.1:g.20261_20282del, NG_051965.1:g.20266_20282del, NG_051965.1:g.20267_20282del, NG_051965.1:g.20268_20282del, NG_051965.1:g.20269_20282del, NG_051965.1:g.20270_20282del, NG_051965.1:g.20271_20282del, NG_051965.1:g.20272_20282del, NG_051965.1:g.20273_20282del, NG_051965.1:g.20274_20282del, NG_051965.1:g.20275_20282del, NG_051965.1:g.20276_20282del, NG_051965.1:g.20277_20282del, NG_051965.1:g.20278_20282del, NG_051965.1:g.20279_20282del, NG_051965.1:g.20280_20282del, NG_051965.1:g.20281_20282del, NG_051965.1:g.20282del, NG_051965.1:g.20282dup, NG_051965.1:g.20281_20282dup, NG_051965.1:g.20280_20282dup, NG_051965.1:g.20279_20282dup, NG_051965.1:g.20278_20282dup, NG_051965.1:g.20277_20282dup, NG_051965.1:g.20276_20282dup, NG_051965.1:g.20275_20282dup, NG_051965.1:g.20274_20282dup, NG_051965.1:g.20261_20282dup
6.
rs1491142757 has merged into rs759581510 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTT>-,TT,TTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 17:2358883
(GRCh38)
17:2262177
(GRCh37)
- Canonical SPDI:
- NC_000017.11:2358873:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000017.11:2358873:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000017.11:2358873:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:2358873:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:2358873:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:2358873:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:2358873:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000017.11:2358873:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:2358873:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:2358873:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:2358873:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:2358873:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:2358873:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:2358873:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:2358873:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:2358873:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:2358873:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:2358873:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:2358873:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:2358873:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:2358873:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- SGSM2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTT=0./0
(
ALFA)
TTTTTTTT=0.075/3
(GENOME_DK)
- HGVS:
NC_000017.11:g.2358883_2358894del, NC_000017.11:g.2358885_2358894del, NC_000017.11:g.2358886_2358894del, NC_000017.11:g.2358890_2358894del, NC_000017.11:g.2358892_2358894del, NC_000017.11:g.2358893_2358894del, NC_000017.11:g.2358894del, NC_000017.11:g.2358894dup, NC_000017.11:g.2358893_2358894dup, NC_000017.11:g.2358892_2358894dup, NC_000017.11:g.2358891_2358894dup, NC_000017.11:g.2358890_2358894dup, NC_000017.11:g.2358889_2358894dup, NC_000017.11:g.2358888_2358894dup, NC_000017.11:g.2358887_2358894dup, NC_000017.11:g.2358886_2358894dup, NC_000017.11:g.2358885_2358894dup, NC_000017.11:g.2358884_2358894dup, NC_000017.11:g.2358883_2358894dup, NC_000017.11:g.2358882_2358894dup, NC_000017.11:g.2358880_2358894dup, NC_000017.10:g.2262177_2262188del, NC_000017.10:g.2262179_2262188del, NC_000017.10:g.2262180_2262188del, NC_000017.10:g.2262184_2262188del, NC_000017.10:g.2262186_2262188del, NC_000017.10:g.2262187_2262188del, NC_000017.10:g.2262188del, NC_000017.10:g.2262188dup, NC_000017.10:g.2262187_2262188dup, NC_000017.10:g.2262186_2262188dup, NC_000017.10:g.2262185_2262188dup, NC_000017.10:g.2262184_2262188dup, NC_000017.10:g.2262183_2262188dup, NC_000017.10:g.2262182_2262188dup, NC_000017.10:g.2262181_2262188dup, NC_000017.10:g.2262180_2262188dup, NC_000017.10:g.2262179_2262188dup, NC_000017.10:g.2262178_2262188dup, NC_000017.10:g.2262177_2262188dup, NC_000017.10:g.2262176_2262188dup, NC_000017.10:g.2262174_2262188dup, NG_051965.1:g.26370_26381del, NG_051965.1:g.26372_26381del, NG_051965.1:g.26373_26381del, NG_051965.1:g.26377_26381del, NG_051965.1:g.26379_26381del, NG_051965.1:g.26380_26381del, NG_051965.1:g.26381del, NG_051965.1:g.26381dup, NG_051965.1:g.26380_26381dup, NG_051965.1:g.26379_26381dup, NG_051965.1:g.26378_26381dup, NG_051965.1:g.26377_26381dup, NG_051965.1:g.26376_26381dup, NG_051965.1:g.26375_26381dup, NG_051965.1:g.26374_26381dup, NG_051965.1:g.26373_26381dup, NG_051965.1:g.26372_26381dup, NG_051965.1:g.26371_26381dup, NG_051965.1:g.26370_26381dup, NG_051965.1:g.26369_26381dup, NG_051965.1:g.26367_26381dup
7.
rs1491119605 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 17:2335445
(GRCh38)
17:2238740
(GRCh37)
- Canonical SPDI:
- NC_000017.11:2335445:C:CC
- Gene:
- TSR1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
C=0.000005/1
(GnomAD_exomes)
- HGVS:
9.
rs1491004082 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 17:2369436
(GRCh38)
17:2272730
(GRCh37)
- Canonical SPDI:
- NC_000017.11:2369435:T:G
- Gene:
- SGSM2 (Varview), LOC101927864 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000057/15
(TOPMED)
- HGVS:
11.
rs1490855592 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 17:2333098
(GRCh38)
17:2236392
(GRCh37)
- Canonical SPDI:
- NC_000017.11:2333097:C:T
- Gene:
- TSR1 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency
- MAF:
T=0.000004/1
(GnomAD_exomes)
- HGVS:
12.
rs1490827138 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 17:2337923
(GRCh38)
17:2241217
(GRCh37)
- Canonical SPDI:
- NC_000017.11:2337922:C:G,NC_000017.11:2337922:C:T
- Gene:
- SGSM2 (Varview), TSR1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
13.
rs1490812687 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 17:2371251
(GRCh38)
17:2274545
(GRCh37)
- Canonical SPDI:
- NC_000017.11:2371250:C:A,NC_000017.11:2371250:C:T
- Gene:
- SGSM2 (Varview), LOC101927864 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
A=0.000008/2
(GnomAD_exomes)
- HGVS:
14.
rs1490769413 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 17:2381905
(GRCh38)
17:2285199
(GRCh37)
- Canonical SPDI:
- NC_000017.11:2381904:T:C
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
15.
rs1490761636 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 17:2365201
(GRCh38)
17:2268495
(GRCh37)
- Canonical SPDI:
- NC_000017.11:2365200:C:T
- Gene:
- SGSM2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
T=0.000004/1
(GnomAD_exomes)
- HGVS:
16.
rs1490606285 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 17:2381537
(GRCh38)
17:2284831
(GRCh37)
- Canonical SPDI:
- NC_000017.11:2381536:T:C
- Gene:
- SGSM2 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
17.
rs1490516625 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 17:2369820
(GRCh38)
17:2273114
(GRCh37)
- Canonical SPDI:
- NC_000017.11:2369819:G:T
- Gene:
- SGSM2 (Varview), LOC101927864 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
18.
rs1490471639 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 17:2375278
(GRCh38)
17:2278572
(GRCh37)
- Canonical SPDI:
- NC_000017.11:2375277:A:C
- Gene:
- SGSM2 (Varview)
- Functional Consequence:
- genic_downstream_transcript_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:
19.
rs1490462169 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 17:2343492
(GRCh38)
17:2246786
(GRCh37)
- Canonical SPDI:
- NC_000017.11:2343491:G:A,NC_000017.11:2343491:G:T
- Gene:
- SGSM2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
20.
rs1490335908 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 17:2338233
(GRCh38)
17:2241527
(GRCh37)
- Canonical SPDI:
- NC_000017.11:2338232:C:G
- Gene:
- SGSM2 (Varview), TSR1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant,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: