SNP Links for Gene (Select 23548) - SNP

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Select item 14914498061.

rs1491449806 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TCTGTTCAGTCTGTTCG [Show Flanks]
Chromosome:: 5:40734315 (GRCh38)
5:40734418 (GRCh37)
Canonical SPDI:: NC_000005.10:40734315:G:GTCTGTTCAGTCTGTTCG
Gene:: PTGER4 (Varview), TTC33 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
HGVS:: NC_000005.10:g.40734316_40734317insTCTGTTCAGTCTGTTCG, NC_000005.9:g.40734418_40734419insTCTGTTCAGTCTGTTCG, NG_047000.1:g.59819_59820insTCTGTTCAGTCTGTTCG

Select item 14912291812.

rs1491229181 has merged into rs145884228 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>-,ATAT,ATATAT,ATATATAT [Show Flanks]
Chromosome:: 5:40726226 (GRCh38)
5:40726328 (GRCh37)
Canonical SPDI:: NC_000005.10:40726214:TATATATATATAT:TATATATATAT,NC_000005.10:40726214:TATATATATATAT:TATATATATATATAT,NC_000005.10:40726214:TATATATATATAT:TATATATATATATATAT,NC_000005.10:40726214:TATATATATATAT:TATATATATATATATATAT
Gene:: PTGER4 (Varview), TTC33 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATATAT=0.09615/1063 (ALFA)
TA=0.225/9 (GENOME_DK)
TA=0.255/153 (NorthernSweden)
TA=0.25651/256 (GoNL)
TA=0.33367/1671 (1000Genomes)
-=0.41262/85 (Vietnamese)
HGVS:: NC_000005.10:g.40726216AT[5], NC_000005.10:g.40726216AT[7], NC_000005.10:g.40726216AT[8], NC_000005.10:g.40726216AT[9], NC_000005.9:g.40726318AT[5], NC_000005.9:g.40726318AT[7], NC_000005.9:g.40726318AT[8], NC_000005.9:g.40726318AT[9], NG_047000.1:g.51719AT[5], NG_047000.1:g.51719AT[7], NG_047000.1:g.51719AT[8], NG_047000.1:g.51719AT[9]

Select item 14912010383.

rs1491201038 [Homo sapiens]

Variant type:: DELINS
Alleles:: TG>GAACAGACTGAACAGACT [Show Flanks]
Chromosome:: 5:40734315 (GRCh38)
5:40734417 (GRCh37)
Canonical SPDI:: NC_000005.10:40734314:TG:GAACAGACTGAACAGACT
Gene:: PTGER4 (Varview), TTC33 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
HGVS:: NC_000005.10:g.40734315_40734316delinsGAACAGACTGAACAGACT, NC_000005.9:g.40734417_40734418delinsGAACAGACTGAACAGACT, NG_047000.1:g.59818_59819delinsGAACAGACTGAACAGACT

Select item 14909173074.

rs1490917307 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:40713190 (GRCh38)
5:40713292 (GRCh37)
Canonical SPDI:: NC_000005.10:40713189:T:C
Gene:: PTGER4 (Varview), TTC33 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000005.10:g.40713190T>C, NC_000005.9:g.40713292T>C, NG_047000.1:g.38693T>C, XM_011514003.4:c.*2955A>G, NM_012382.3:c.*2955A>G, NM_012382.2:c.*2955A>G

Select item 14908087935.

rs1490808793 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:40720804 (GRCh38)
5:40720906 (GRCh37)
Canonical SPDI:: NC_000005.10:40720803:G:A
Gene:: PTGER4 (Varview), TTC33 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.40720804G>A, NC_000005.9:g.40720906G>A, NG_047000.1:g.46307G>A

Select item 14907780666.

rs1490778066 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:40753357 (GRCh38)
5:40753459 (GRCh37)
Canonical SPDI:: NC_000005.10:40753356:T:C
Gene:: TTC33 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/1 (GnomAD)
HGVS:: NC_000005.10:g.40753357T>C, NC_000005.9:g.40753459T>C

Select item 14906885647.

rs1490688564 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 5:40722524 (GRCh38)
5:40722626 (GRCh37)
Canonical SPDI:: NC_000005.10:40722523:T:A
Gene:: PTGER4 (Varview), TTC33 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000005.10:g.40722524T>A, NC_000005.9:g.40722626T>A, NG_047000.1:g.48027T>A

Select item 14905842818.

rs1490584281 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:40746309 (GRCh38)
5:40746411 (GRCh37)
Canonical SPDI:: NC_000005.10:40746308:A:G
Gene:: PTGER4 (Varview), TTC33 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000005.10:g.40746309A>G, NC_000005.9:g.40746411A>G, XM_017009659.3:c.*5863A>G

Select item 14905387629.

rs1490538762 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 5:40722805 (GRCh38)
5:40722907 (GRCh37)
Canonical SPDI:: NC_000005.10:40722804:A:C
Gene:: PTGER4 (Varview), TTC33 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
HGVS:: NC_000005.10:g.40722805A>C, NC_000005.9:g.40722907A>C, NG_047000.1:g.48308A>C

Select item 149051779910.

rs1490517799 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 5:40745091 (GRCh38)
5:40745193 (GRCh37)
Canonical SPDI:: NC_000005.10:40745090:A:T
Gene:: PTGER4 (Varview), TTC33 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000005.10:g.40745091A>T, NC_000005.9:g.40745193A>T, XM_017009659.3:c.*4645A>T

Select item 149047337711.

rs1490473377 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 5:40729509 (GRCh38)
5:40729611 (GRCh37)
Canonical SPDI:: NC_000005.10:40729508:A:G,NC_000005.10:40729508:A:T
Gene:: PTGER4 (Varview), TTC33 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000005.10:g.40729509A>G, NC_000005.10:g.40729509A>T, NC_000005.9:g.40729611A>G, NC_000005.9:g.40729611A>T, NG_047000.1:g.55012A>G, NG_047000.1:g.55012A>T

Select item 149045019812.

rs1490450198 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:40713857 (GRCh38)
5:40713959 (GRCh37)
Canonical SPDI:: NC_000005.10:40713856:A:G
Gene:: PTGER4 (Varview), TTC33 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000023/6 (TOPMED)
HGVS:: NC_000005.10:g.40713857A>G, NC_000005.9:g.40713959A>G, NG_047000.1:g.39360A>G, XM_011514003.4:c.*2288T>C, NM_012382.3:c.*2288T>C, NM_012382.2:c.*2288T>C

Select item 149044020413.

rs1490440204 [Homo sapiens]

Variant type:: DELINS
Alleles:: TAAAATAAAATAAAATAAAATA>- [Show Flanks]
Chromosome:: 5:40738569 (GRCh38)
5:40738671 (GRCh37)
Canonical SPDI:: NC_000005.10:40738545:ATAAAATAAAATAAAATAAAATATAAAATAAAATAAAATAAAATA:ATAAAATAAAATAAAATAAAATA
Gene:: PTGER4 (Varview), TTC33 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATAAAATAAAATAAAATAAAATA=0./0 (ALFA)
-=0.000035/4 (GnomAD)
-=0.000871/23 (TOMMO)
HGVS:: NC_000005.10:g.40738547TAAAATAAAATAAAATAAAATA[1], NC_000005.9:g.40738649TAAAATAAAATAAAATAAAATA[1], NG_047000.1:g.64050TAAAATAAAATAAAATAAAATA[1]

Select item 149025492114.

rs1490254921 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 5:40756684 (GRCh38)
5:40756786 (GRCh37)
Canonical SPDI:: NC_000005.10:40756683:C:G,NC_000005.10:40756683:C:T
Gene:: TTC33 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000142/2 (ALFA)
G=0.000021/3 (GnomAD)
HGVS:: NC_000005.10:g.40756684C>G, NC_000005.10:g.40756684C>T, NC_000005.9:g.40756786C>G, NC_000005.9:g.40756786C>T

Select item 149020505015.

rs1490205050 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 5:40723025 (GRCh38)
5:40723127 (GRCh37)
Canonical SPDI:: NC_000005.10:40723024:C:
Gene:: PTGER4 (Varview), TTC33 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.40723025del, NC_000005.9:g.40723127del, NG_047000.1:g.48528del

Select item 149012440616.

rs1490124406 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:40715086 (GRCh38)
5:40715188 (GRCh37)
Canonical SPDI:: NC_000005.10:40715085:A:G
Gene:: PTGER4 (Varview), TTC33 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_downstream_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_000005.10:g.40715086A>G, NC_000005.9:g.40715188A>G, NG_047000.1:g.40589A>G, XM_011514003.4:c.*1059T>C, XM_011514003.3:c.*1059T>C, XM_011514003.2:c.*1059T>C, XM_011514003.1:c.*1059T>C, NM_012382.3:c.*1059T>C, NM_012382.2:c.*1059T>C

Select item 149004542617.

rs1490045426 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 5:40754714 (GRCh38)
5:40754816 (GRCh37)
Canonical SPDI:: NC_000005.10:40754713:A:C
Gene:: TTC33 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.40754714A>C, NC_000005.9:g.40754816A>C

Select item 149000908518.

rs1490009085 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 5:40742202 (GRCh38)
5:40742304 (GRCh37)
Canonical SPDI:: NC_000005.10:40742201:T:A,NC_000005.10:40742201:T:C
Gene:: PTGER4 (Varview), TTC33 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000023/6 (TOPMED)
A=0.000043/6 (GnomAD)
HGVS:: NC_000005.10:g.40742202T>A, NC_000005.10:g.40742202T>C, NC_000005.9:g.40742304T>A, NC_000005.9:g.40742304T>C, NG_047000.1:g.67705T>A, NG_047000.1:g.67705T>C, XM_017009659.3:c.*1756T>A, XM_017009659.3:c.*1756T>C

Select item 148997352119.

rs1489973521 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:40739445 (GRCh38)
5:40739547 (GRCh37)
Canonical SPDI:: NC_000005.10:40739444:G:A
Gene:: PTGER4 (Varview), TTC33 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.40739445G>A, NC_000005.9:g.40739547G>A, NG_047000.1:g.64948G>A

Select item 148995317920.

rs1489953179 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T,TT [Show Flanks]
Chromosome:: 5:40753701 (GRCh38)
5:40753804 (GRCh37)
Canonical SPDI:: NC_000005.10:40753701:T:TT,NC_000005.10:40753701:T:TTT
Gene:: TTC33 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTT=0./0 (ALFA)
HGVS:: NC_000005.10:g.40753702dup, NC_000005.10:g.40753702_40753703insTT, NC_000005.9:g.40753804dup, NC_000005.9:g.40753804_40753805insTT

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