SNP Links for Gene (Select 100506779) - SNP

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Select item 14914516591.

rs1491451659 has merged into rs3030904 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATAT>-,AT,ATATAT,ATATATAT [Show Flanks]
Chromosome:: 17:58330166 (GRCh38)
17:56407527 (GRCh37)
Canonical SPDI:: NC_000017.11:58330156:TATATATATATAT:TATATATAT,NC_000017.11:58330156:TATATATATATAT:TATATATATAT,NC_000017.11:58330156:TATATATATATAT:TATATATATATATAT,NC_000017.11:58330156:TATATATATATAT:TATATATATATATATAT
Gene:: TSPOAP1 (Varview), TSPOAP1-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATATATAT=0./0 (ALFA)
TA=0.17686/324 (Korea1K)
TA=0.275/11 (GENOME_DK)
TA=0.29859/1315 (Estonian)
TA=0.32407/70 (Vietnamese)
TA=0.33566/1681 (1000Genomes)
TA=0.33833/203 (NorthernSweden)
HGVS:: NC_000017.11:g.58330158AT[4], NC_000017.11:g.58330158AT[5], NC_000017.11:g.58330158AT[7], NC_000017.11:g.58330158AT[8], NC_000017.10:g.56407519AT[4], NC_000017.10:g.56407519AT[5], NC_000017.10:g.56407519AT[7], NC_000017.10:g.56407519AT[8]

Select item 14914237882.

rs1491423788 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 17:58346718 (GRCh38)
17:56424079 (GRCh37)
Canonical SPDI:: NC_000017.11:58346717:CA:
Gene:: SUPT4H1 (Varview), TSPOAP1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000017.11:g.58346718_58346719del, NC_000017.10:g.56424079_56424080del

Select item 14913689023.

rs1491368902 has merged into rs565767343 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:58351261 (GRCh38)
17:56428622 (GRCh37)
Canonical SPDI:: NC_000017.11:58351251:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000017.11:58351251:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:58351251:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:58351251:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:58351251:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:58351251:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:58351251:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:58351251:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:58351251:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:58351251:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:58351251:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:58351251:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:58351251:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:58351251:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:58351251:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:58351251:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:58351251:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:58351251:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:58351251:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SUPT4H1 (Varview), TSPOAP1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
-=0.4519/2263 (1000Genomes)
HGVS:: NC_000017.11:g.58351261_58351274del, NC_000017.11:g.58351263_58351274del, NC_000017.11:g.58351264_58351274del, NC_000017.11:g.58351265_58351274del, NC_000017.11:g.58351266_58351274del, NC_000017.11:g.58351267_58351274del, NC_000017.11:g.58351268_58351274del, NC_000017.11:g.58351269_58351274del, NC_000017.11:g.58351270_58351274del, NC_000017.11:g.58351271_58351274del, NC_000017.11:g.58351272_58351274del, NC_000017.11:g.58351273_58351274del, NC_000017.11:g.58351274del, NC_000017.11:g.58351274dup, NC_000017.11:g.58351273_58351274dup, NC_000017.11:g.58351272_58351274dup, NC_000017.11:g.58351271_58351274dup, NC_000017.11:g.58351270_58351274dup, NC_000017.11:g.58351268_58351274dup, NC_000017.10:g.56428622_56428635del, NC_000017.10:g.56428624_56428635del, NC_000017.10:g.56428625_56428635del, NC_000017.10:g.56428626_56428635del, NC_000017.10:g.56428627_56428635del, NC_000017.10:g.56428628_56428635del, NC_000017.10:g.56428629_56428635del, NC_000017.10:g.56428630_56428635del, NC_000017.10:g.56428631_56428635del, NC_000017.10:g.56428632_56428635del, NC_000017.10:g.56428633_56428635del, NC_000017.10:g.56428634_56428635del, NC_000017.10:g.56428635del, NC_000017.10:g.56428635dup, NC_000017.10:g.56428634_56428635dup, NC_000017.10:g.56428633_56428635dup, NC_000017.10:g.56428632_56428635dup, NC_000017.10:g.56428631_56428635dup, NC_000017.10:g.56428629_56428635dup, NG_042894.1:g.71318_71331del, NG_042894.1:g.71320_71331del, NG_042894.1:g.71321_71331del, NG_042894.1:g.71322_71331del, NG_042894.1:g.71323_71331del, NG_042894.1:g.71324_71331del, NG_042894.1:g.71325_71331del, NG_042894.1:g.71326_71331del, NG_042894.1:g.71327_71331del, NG_042894.1:g.71328_71331del, NG_042894.1:g.71329_71331del, NG_042894.1:g.71330_71331del, NG_042894.1:g.71331del, NG_042894.1:g.71331dup, NG_042894.1:g.71330_71331dup, NG_042894.1:g.71329_71331dup, NG_042894.1:g.71328_71331dup, NG_042894.1:g.71327_71331dup, NG_042894.1:g.71325_71331dup

Select item 14911896014.

rs1491189601 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 17:58351251 (GRCh38)
17:56428612 (GRCh37)
Canonical SPDI:: NC_000017.11:58351250:CA:
Gene:: SUPT4H1 (Varview), TSPOAP1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00067/8 (ALFA)
HGVS:: NC_000017.11:g.58351251_58351252del, NC_000017.10:g.56428612_56428613del, NG_042894.1:g.71331_71332del

Select item 14910173755.

rs1491017375 has merged into rs33965188 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,A,AA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:58346728 (GRCh38)
17:56424089 (GRCh37)
Canonical SPDI:: NC_000017.11:58346718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000017.11:58346718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000017.11:58346718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:58346718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:58346718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:58346718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:58346718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:58346718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:58346718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:58346718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:58346718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:58346718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:58346718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:58346718:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SUPT4H1 (Varview), TSPOAP1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000017.11:g.58346728_58346739del, NC_000017.11:g.58346729_58346739del, NC_000017.11:g.58346730_58346739del, NC_000017.11:g.58346733_58346739del, NC_000017.11:g.58346735_58346739del, NC_000017.11:g.58346736_58346739del, NC_000017.11:g.58346738_58346739del, NC_000017.11:g.58346739del, NC_000017.11:g.58346739dup, NC_000017.11:g.58346738_58346739dup, NC_000017.11:g.58346737_58346739dup, NC_000017.11:g.58346736_58346739dup, NC_000017.11:g.58346735_58346739dup, NC_000017.11:g.58346724_58346739dup, NC_000017.10:g.56424089_56424100del, NC_000017.10:g.56424090_56424100del, NC_000017.10:g.56424091_56424100del, NC_000017.10:g.56424094_56424100del, NC_000017.10:g.56424096_56424100del, NC_000017.10:g.56424097_56424100del, NC_000017.10:g.56424099_56424100del, NC_000017.10:g.56424100del, NC_000017.10:g.56424100dup, NC_000017.10:g.56424099_56424100dup, NC_000017.10:g.56424098_56424100dup, NC_000017.10:g.56424097_56424100dup, NC_000017.10:g.56424096_56424100dup, NC_000017.10:g.56424085_56424100dup

Select item 14909671956.

rs1490967195 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:58338868 (GRCh38)
17:56416229 (GRCh37)
Canonical SPDI:: NC_000017.11:58338867:T:G
Gene:: TSPOAP1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.58338868T>G, NC_000017.10:g.56416229T>G

Select item 14909590167.

rs1490959016 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:58324231 (GRCh38)
17:56401592 (GRCh37)
Canonical SPDI:: NC_000017.11:58324230:G:A
Gene:: TSPOAP1 (Varview), TSPOAP1-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_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_000017.11:g.58324231G>A, NC_000017.10:g.56401592G>A

Select item 14905810628.

rs1490581062 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TACCC [Show Flanks]
Chromosome:: 17:58339775 (GRCh38)
17:56417137 (GRCh37)
Canonical SPDI:: NC_000017.11:58339775:CTACCC:CTACCCTACCC
Gene:: TSPOAP1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTACCCTACCC=0./0 (ALFA)
CTACC=0.000021/3 (GnomAD)
CTACC=0.000038/10 (TOPMED)
HGVS:: NC_000017.11:g.58339777_58339781dup, NC_000017.10:g.56417138_56417142dup

Select item 14905703389.

rs1490570338 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:58335062 (GRCh38)
17:56412423 (GRCh37)
Canonical SPDI:: NC_000017.11:58335061:C:G
Gene:: TSPOAP1-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
HGVS:: NC_000017.11:g.58335062C>G, NC_000017.10:g.56412423C>G

Select item 149056931710.

rs1490569317 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 17:58345332 (GRCh38)
17:56422693 (GRCh37)
Canonical SPDI:: NC_000017.11:58345331:AA:A
Gene:: SUPT4H1 (Varview), TSPOAP1-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.58345333del, NC_000017.10:g.56422694del, NM_003168.3:c.*914del, NM_003168.2:c.*914del, NR_073470.2:n.1336del, NR_073470.1:n.1373del

Select item 149052416611.

rs1490524166 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:58330709 (GRCh38)
17:56408070 (GRCh37)
Canonical SPDI:: NC_000017.11:58330708:T:C
Gene:: TSPOAP1 (Varview), TSPOAP1-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.58330709T>C, NC_000017.10:g.56408070T>C

Select item 149049611212.

rs1490496112 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:58352466 (GRCh38)
17:56429827 (GRCh37)
Canonical SPDI:: NC_000017.11:58352465:G:T
Gene:: SUPT4H1 (Varview), RNF43 (Varview), TSPOAP1-AS1 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant,500B_downstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
HGVS:: NC_000017.11:g.58352466G>T, NC_000017.10:g.56429827G>T, NG_042894.1:g.70117C>A, NR_038410.1:n.1222G>T, NR_038414.1:n.1190G>T, NR_038415.1:n.1126G>T, NR_038416.1:n.1117G>T, NR_038411.1:n.1017G>T, NR_038412.1:n.1008G>T, NR_038417.1:n.989G>T, NR_038418.1:n.980G>T, NR_038413.1:n.940G>T

Select item 149047986113.

rs1490479861 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:58338385 (GRCh38)
17:56415746 (GRCh37)
Canonical SPDI:: NC_000017.11:58338384:G:T
Gene:: TSPOAP1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.58338385G>T, NC_000017.10:g.56415746G>T, NG_056222.1:g.458G>T

Select item 149047231514.

rs1490472315 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:58323863 (GRCh38)
17:56401224 (GRCh37)
Canonical SPDI:: NC_000017.11:58323862:T:C
Gene:: TSPOAP1 (Varview), TSPOAP1-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.58323863T>C, NC_000017.10:g.56401224T>C

Select item 149044823415.

rs1490448234 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:58337716 (GRCh38)
17:56415077 (GRCh37)
Canonical SPDI:: NC_000017.11:58337715:C:G,NC_000017.11:58337715:C:T
Gene:: TSPOAP1-AS1 (Varview), MIR4736 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00011/2 (TOMMO)
T=0.00034/1 (KOREAN)
HGVS:: NC_000017.11:g.58337716C>G, NC_000017.11:g.58337716C>T, NC_000017.10:g.56415077C>G, NC_000017.10:g.56415077C>T

Select item 149044398216.

rs1490443982 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:58324184 (GRCh38)
17:56401545 (GRCh37)
Canonical SPDI:: NC_000017.11:58324183:A:T
Gene:: TSPOAP1 (Varview), TSPOAP1-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000029/4 (GnomAD)
T=0.000034/9 (TOPMED)
HGVS:: NC_000017.11:g.58324184A>T, NC_000017.10:g.56401545A>T

Select item 149038896017.

rs1490388960 [Homo sapiens]

Variant type:: DELINS
Alleles:: CATAA>- [Show Flanks]
Chromosome:: 17:58353583 (GRCh38)
17:56430944 (GRCh37)
Canonical SPDI:: NC_000017.11:58353578:ATAACATAA:ATAA
Gene:: SUPT4H1 (Varview), RNF43 (Varview), TSPOAP1-AS1 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: ATAA=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.58353583_58353587del, NC_000017.10:g.56430944_56430948del, NG_042894.1:g.69000_69004del, NM_017763.5:c.*1360_*1364del, NM_001305544.2:c.*1360_*1364del, NM_001305544.1:c.*1360_*1364del, NM_001305545.1:c.*1360_*1364del, XM_047436331.1:c.*1360_*1364del, XM_047436332.1:c.*1360_*1364del, NR_038410.1:n.2339_2343del, NR_038414.1:n.2307_2311del, NR_038415.1:n.2243_2247del, NR_038416.1:n.2234_2238del, NR_038411.1:n.2134_2138del, NR_038412.1:n.2125_2129del, NR_038417.1:n.2106_2110del, NR_038418.1:n.2097_2101del, NR_038413.1:n.2057_2061del

Select item 149031804318.

rs1490318043 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 17:58325000 (GRCh38)
17:56402361 (GRCh37)
Canonical SPDI:: NC_000017.11:58324999:C:A,NC_000017.11:58324999:C:T
Gene:: TSPOAP1 (Varview), TSPOAP1-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,synonymous_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.58325000C>A, NC_000017.11:g.58325000C>T, NC_000017.10:g.56402361C>A, NC_000017.10:g.56402361C>T, NM_004758.4:c.753G>T, NM_004758.4:c.753G>A, NM_004758.3:c.753G>T, NM_004758.3:c.753G>A, NM_024418.3:c.573G>T, NM_024418.3:c.573G>A, NM_024418.2:c.573G>T, NM_024418.2:c.573G>A, NM_001261835.2:c.753G>T, NM_001261835.2:c.753G>A, NM_001261835.1:c.753G>T, NM_001261835.1:c.753G>A, NP_004749.2:p.Glu251Asp, NP_077729.1:p.Glu191Asp, NP_001248764.1:p.Glu251Asp

Select item 149016151319.

rs1490161513 [Homo sapiens]

Variant type:: DELINS
Alleles:: TG>- [Show Flanks]
Chromosome:: 17:58341954 (GRCh38)
17:56419315 (GRCh37)
Canonical SPDI:: NC_000017.11:58341952:GTG:G
Gene:: TSPOAP1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: -=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.58341954_58341955del, NC_000017.10:g.56419315_56419316del

Select item 149010376620.

rs1490103766 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:58345867 (GRCh38)
17:56423228 (GRCh37)
Canonical SPDI:: NC_000017.11:58345866:T:C
Gene:: SUPT4H1 (Varview), TSPOAP1-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.58345867T>C, NC_000017.10:g.56423228T>C, NM_003168.3:c.*379A>G, NM_003168.2:c.*379A>G, NR_073470.2:n.801A>G, NR_073470.1:n.838A>G

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