SNP Links for Gene (Select 84321) - SNP

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Select item 14915761231.

rs1491576123 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 5:175970286 (GRCh38)
5:175397289 (GRCh37)
Canonical SPDI:: NC_000005.10:175970285:CA:
Gene:: THOC3 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: -=0.01045/124 (ALFA)
HGVS:: NC_000005.10:g.175970286_175970287del, NC_000005.9:g.175397289_175397290del

Select item 14915268002.

rs1491526800 has merged into rs59077860 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACACACACAC>-,AC,ACAC,ACACACAC,ACACACACACAC,ACACACACACACAC,ACACACACACACACAC,ACACACACACACACACAC,ACACACACACACACACACAC,ACACACACACACACACACACAC,ACACACACACACACACACACACAC,ACACACACACACACACACACACACAC,ACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACAC [Show Flanks]
Chromosome:: 5:175962434 (GRCh38)
5:175389437 (GRCh37)
Canonical SPDI:: NC_000005.10:175962421:ACACACACACACACACACACAC:ACACACACACAC,NC_000005.10:175962421:ACACACACACACACACACACAC:ACACACACACACAC,NC_000005.10:175962421:ACACACACACACACACACACAC:ACACACACACACACAC,NC_000005.10:175962421:ACACACACACACACACACACAC:ACACACACACACACACACAC,NC_000005.10:175962421:ACACACACACACACACACACAC:ACACACACACACACACACACACAC,NC_000005.10:175962421:ACACACACACACACACACACAC:ACACACACACACACACACACACACAC,NC_000005.10:175962421:ACACACACACACACACACACAC:ACACACACACACACACACACACACACAC,NC_000005.10:175962421:ACACACACACACACACACACAC:ACACACACACACACACACACACACACACAC,NC_000005.10:175962421:ACACACACACACACACACACAC:ACACACACACACACACACACACACACACACAC,NC_000005.10:175962421:ACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACAC,NC_000005.10:175962421:ACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACAC,NC_000005.10:175962421:ACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACAC,NC_000005.10:175962421:ACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACAC,NC_000005.10:175962421:ACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACAC,NC_000005.10:175962421:ACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACAC,NC_000005.10:175962421:ACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACAC,NC_000005.10:175962421:ACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACAC
Gene:: THOC3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACAC=0./0 (ALFA)
HGVS:: NC_000005.10:g.175962422AC[6], NC_000005.10:g.175962422AC[7], NC_000005.10:g.175962422AC[8], NC_000005.10:g.175962422AC[10], NC_000005.10:g.175962422AC[12], NC_000005.10:g.175962422AC[13], NC_000005.10:g.175962422AC[14], NC_000005.10:g.175962422AC[15], NC_000005.10:g.175962422AC[16], NC_000005.10:g.175962422AC[17], NC_000005.10:g.175962422AC[18], NC_000005.10:g.175962422AC[19], NC_000005.10:g.175962422AC[20], NC_000005.10:g.175962422AC[21], NC_000005.10:g.175962422AC[22], NC_000005.10:g.175962422AC[23], NC_000005.10:g.175962422AC[25], NC_000005.9:g.175389425AC[6], NC_000005.9:g.175389425AC[7], NC_000005.9:g.175389425AC[8], NC_000005.9:g.175389425AC[10], NC_000005.9:g.175389425AC[12], NC_000005.9:g.175389425AC[13], NC_000005.9:g.175389425AC[14], NC_000005.9:g.175389425AC[15], NC_000005.9:g.175389425AC[16], NC_000005.9:g.175389425AC[17], NC_000005.9:g.175389425AC[18], NC_000005.9:g.175389425AC[19], NC_000005.9:g.175389425AC[20], NC_000005.9:g.175389425AC[21], NC_000005.9:g.175389425AC[22], NC_000005.9:g.175389425AC[23], NC_000005.9:g.175389425AC[25]

Select item 14914723703.

rs1491472370 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 5:176014190 (GRCh38)
5:175441193 (GRCh37)
Canonical SPDI:: NC_000005.10:176014189:CA:
Gene:: LOC124900194 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000005.10:g.176014190_176014191del, NC_000005.9:g.175441193_175441194del

Select item 14913688544.

rs1491368854 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->TCACACAC
Chromosome:: no mapping
Canonical SPDI:

Select item 14913306385.

rs1491330638 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 5:176013420 (GRCh38)
5:175440424 (GRCh37)
Canonical SPDI:: NC_000005.10:176013420:G:GG
Gene:: LOC124900194 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0.00105/17 (ALFA)
G=0.00764/14 (Korea1K)
G=0.00931/155 (TOMMO)
HGVS:: NC_000005.10:g.176013421dup, NC_000005.9:g.175440424dup

Select item 14912965626.

rs1491296562 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,C,G [Show Flanks]
Chromosome:: 5:176013422 (GRCh38)
5:175440426 (GRCh37)
Canonical SPDI:: NC_000005.10:176013422::A,NC_000005.10:176013422::C,NC_000005.10:176013422::G
Gene:: LOC124900194 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
G=0.00004/1 (TOMMO)
HGVS:: NC_000005.10:g.176013422_176013423insA, NC_000005.10:g.176013422_176013423insC, NC_000005.10:g.176013422_176013423insG, NC_000005.9:g.175440425_175440426insA, NC_000005.9:g.175440425_175440426insC, NC_000005.9:g.175440425_175440426insG

Select item 14912490117.

rs1491249011 has merged into rs34789329 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>-,ATAT,ATATAT,ATATATAT [Show Flanks]
Chromosome:: 5:175970301 (GRCh38)
5:175397304 (GRCh37)
Canonical SPDI:: NC_000005.10:175970286:ATATATATATATATAT:ATATATATATATAT,NC_000005.10:175970286:ATATATATATATATAT:ATATATATATATATATAT,NC_000005.10:175970286:ATATATATATATATAT:ATATATATATATATATATAT,NC_000005.10:175970286:ATATATATATATATAT:ATATATATATATATATATATAT
Gene:: THOC3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATATATATAT=0./0 (ALFA)
HGVS:: NC_000005.10:g.175970287AT[7], NC_000005.10:g.175970287AT[9], NC_000005.10:g.175970287AT[10], NC_000005.10:g.175970287AT[11], NC_000005.9:g.175397290AT[7], NC_000005.9:g.175397290AT[9], NC_000005.9:g.175397290AT[10], NC_000005.9:g.175397290AT[11]

Select item 14911581568.

rs1491158156 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 5:176013421 (GRCh38)
5:175440424 (GRCh37)
Canonical SPDI:: NC_000005.10:176013419:TGT:T
Gene:: LOC124900194 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000005.10:g.176013421_176013422del, NC_000005.9:g.175440424_175440425del

Select item 14911364679.

rs1491136467 has merged into rs60016195 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTT>-,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 5:176013433 (GRCh38)
5:175440436 (GRCh37)
Canonical SPDI:: NC_000005.10:176013421:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000005.10:176013421:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:176013421:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:176013421:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000005.10:176013421:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000005.10:176013421:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000005.10:176013421:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:176013421:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:176013421:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:176013421:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:176013421:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:176013421:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:176013421:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:176013421:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:176013421:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:176013421:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:176013421:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:176013421:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:176013421:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: LOC124900194 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000005.10:g.176013433_176013441del, NC_000005.10:g.176013438_176013441del, NC_000005.10:g.176013439_176013441del, NC_000005.10:g.176013440_176013441del, NC_000005.10:g.176013441del, NC_000005.10:g.176013441dup, NC_000005.10:g.176013440_176013441dup, NC_000005.10:g.176013439_176013441dup, NC_000005.10:g.176013438_176013441dup, NC_000005.10:g.176013437_176013441dup, NC_000005.10:g.176013436_176013441dup, NC_000005.10:g.176013435_176013441dup, NC_000005.10:g.176013434_176013441dup, NC_000005.10:g.176013433_176013441dup, NC_000005.10:g.176013432_176013441dup, NC_000005.10:g.176013431_176013441dup, NC_000005.10:g.176013430_176013441dup, NC_000005.10:g.176013441_176013442insTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.176013441_176013442insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.175440436_175440444del, NC_000005.9:g.175440441_175440444del, NC_000005.9:g.175440442_175440444del, NC_000005.9:g.175440443_175440444del, NC_000005.9:g.175440444del, NC_000005.9:g.175440444dup, NC_000005.9:g.175440443_175440444dup, NC_000005.9:g.175440442_175440444dup, NC_000005.9:g.175440441_175440444dup, NC_000005.9:g.175440440_175440444dup, NC_000005.9:g.175440439_175440444dup, NC_000005.9:g.175440438_175440444dup, NC_000005.9:g.175440437_175440444dup, NC_000005.9:g.175440436_175440444dup, NC_000005.9:g.175440435_175440444dup, NC_000005.9:g.175440434_175440444dup, NC_000005.9:g.175440433_175440444dup, NC_000005.9:g.175440444_175440445insTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.175440444_175440445insTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149113383710.

rs1491133837 has merged into rs780751360 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA [Show Flanks]
Chromosome:: 5:176014199 (GRCh38)
5:175441202 (GRCh37)
Canonical SPDI:: NC_000005.10:176014190:AAAAAAAAAAAAAAA:AAAAAAAA,NC_000005.10:176014190:AAAAAAAAAAAAAAA:AAAAAAAAA,NC_000005.10:176014190:AAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000005.10:176014190:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:176014190:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:176014190:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:176014190:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:176014190:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA
Gene:: LOC124900194 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
-=0.25/10 (GENOME_DK)
-=0.2775/1029 (TWINSUK)
-=0.3054/1177 (ALSPAC)
HGVS:: NC_000005.10:g.176014199_176014205del, NC_000005.10:g.176014200_176014205del, NC_000005.10:g.176014201_176014205del, NC_000005.10:g.176014202_176014205del, NC_000005.10:g.176014203_176014205del, NC_000005.10:g.176014204_176014205del, NC_000005.10:g.176014205del, NC_000005.10:g.176014205dup, NC_000005.9:g.175441202_175441208del, NC_000005.9:g.175441203_175441208del, NC_000005.9:g.175441204_175441208del, NC_000005.9:g.175441205_175441208del, NC_000005.9:g.175441206_175441208del, NC_000005.9:g.175441207_175441208del, NC_000005.9:g.175441208del, NC_000005.9:g.175441208dup

Select item 149100590911.

rs1491005909 has merged into rs752217771 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 5:175971986 (GRCh38)
5:175398989 (GRCh37)
Canonical SPDI:: NC_000005.10:175971977:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000005.10:175971977:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000005.10:175971977:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000005.10:175971977:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:175971977:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:175971977:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:175971977:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:175971977:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:175971977:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:175971977:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:175971977:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:175971977:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:175971977:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000005.10:175971977:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000005.10:175971977:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:175971977:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:175971977:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:175971977:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:175971977:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:175971977:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:175971977:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: THOC3-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
-=0.35/14 (GENOME_DK)
HGVS:: NC_000005.10:g.175971986_175971999del, NC_000005.10:g.175971987_175971999del, NC_000005.10:g.175971988_175971999del, NC_000005.10:g.175971989_175971999del, NC_000005.10:g.175971990_175971999del, NC_000005.10:g.175971991_175971999del, NC_000005.10:g.175971992_175971999del, NC_000005.10:g.175971993_175971999del, NC_000005.10:g.175971994_175971999del, NC_000005.10:g.175971995_175971999del, NC_000005.10:g.175971996_175971999del, NC_000005.10:g.175971997_175971999del, NC_000005.10:g.175971998_175971999del, NC_000005.10:g.175971999del, NC_000005.10:g.175971999dup, NC_000005.10:g.175971998_175971999dup, NC_000005.10:g.175971997_175971999dup, NC_000005.10:g.175971996_175971999dup, NC_000005.10:g.175971995_175971999dup, NC_000005.10:g.175971994_175971999dup, NC_000005.10:g.175971989_175971999dup, NC_000005.9:g.175398989_175399002del, NC_000005.9:g.175398990_175399002del, NC_000005.9:g.175398991_175399002del, NC_000005.9:g.175398992_175399002del, NC_000005.9:g.175398993_175399002del, NC_000005.9:g.175398994_175399002del, NC_000005.9:g.175398995_175399002del, NC_000005.9:g.175398996_175399002del, NC_000005.9:g.175398997_175399002del, NC_000005.9:g.175398998_175399002del, NC_000005.9:g.175398999_175399002del, NC_000005.9:g.175399000_175399002del, NC_000005.9:g.175399001_175399002del, NC_000005.9:g.175399002del, NC_000005.9:g.175399002dup, NC_000005.9:g.175399001_175399002dup, NC_000005.9:g.175399000_175399002dup, NC_000005.9:g.175398999_175399002dup, NC_000005.9:g.175398998_175399002dup, NC_000005.9:g.175398997_175399002dup, NC_000005.9:g.175398992_175399002dup

Select item 149100295412.

rs1491002954 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:176032492 (GRCh38)
5:175459495 (GRCh37)
Canonical SPDI:: NC_000005.10:176032491:G:T
Gene:: LOC124900194 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: T=0.0044/8 (Korea1K)
HGVS:: NC_000005.10:g.176032492G>T, NC_000005.9:g.175459495G>T

Select item 149097936113.

rs1490979361 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:176033981 (GRCh38)
5:175460984 (GRCh37)
Canonical SPDI:: NC_000005.10:176033980:G:A
Gene:: LOC124900194 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00016/1 (1000Genomes)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000005.10:g.176033981G>A, NC_000005.9:g.175460984G>A, XR_007059066.1:n.1258C>T

Select item 149095361614.

rs1490953616 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 5:176034091 (GRCh38)
5:175461094 (GRCh37)
Canonical SPDI:: NC_000005.10:176034090:A:T
Gene:: LOC124900194 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000011/1 (GnomAD)
HGVS:: NC_000005.10:g.176034091A>T, NC_000005.9:g.175461094A>T, XR_007059066.1:n.1148T>A

Select item 149093533415.

rs1490935334 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:176014063 (GRCh38)
5:175441066 (GRCh37)
Canonical SPDI:: NC_000005.10:176014062:C:T
Gene:: LOC124900194 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.00008/1 (ALFA)
HGVS:: NC_000005.10:g.176014063C>T, NC_000005.9:g.175441066C>T

Select item 149092846516.

rs1490928465 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 5:176033106 (GRCh38)
5:175460109 (GRCh37)
Canonical SPDI:: NC_000005.10:176033105:T:C,NC_000005.10:176033105:T:G
Gene:: LOC124900194 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.176033106T>C, NC_000005.10:g.176033106T>G, NC_000005.9:g.175460109T>C, NC_000005.9:g.175460109T>G, XR_007059066.1:n.2133A>G, XR_007059066.1:n.2133A>C

Select item 149086160017.

rs1490861600 [Homo sapiens]

Variant type:: DELINS
Alleles:: AC>- [Show Flanks]
Chromosome:: 5:176012673 (GRCh38)
5:175439676 (GRCh37)
Canonical SPDI:: NC_000005.10:176012671:CAC:C
Gene:: LOC124900194 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: -=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.176012673_176012674del, NC_000005.9:g.175439676_175439677del

Select item 149085853118.

rs1490858531 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:175973391 (GRCh38)
5:175400394 (GRCh37)
Canonical SPDI:: NC_000005.10:175973390:C:T
Gene:: THOC3-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.175973391C>T, NC_000005.9:g.175400394C>T

Select item 149083675519.

rs1490836755 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:176025220 (GRCh38)
5:175452223 (GRCh37)
Canonical SPDI:: NC_000005.10:176025219:G:A
Gene:: LOC124900194 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000005.10:g.176025220G>A, NC_000005.9:g.175452223G>A

Select item 149082580420.

rs1490825804 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:176005116 (GRCh38)
5:175432119 (GRCh37)
Canonical SPDI:: NC_000005.10:176005115:A:G
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.176005116A>G, NC_000005.9:g.175432119A>G

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