SNP Links for Gene (Select 100288069) - SNP

Links from Gene

Items: 1 to 20 of 3597

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Select item 14915472431.

rs1491547243 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:775840 (GRCh38)
1:711220 (GRCh37)
Canonical SPDI:: NC_000001.11:775839:CA:
Gene:: LOC100288069 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00012/1 (GnomAD)
HGVS:: NC_000001.11:g.775840_775841del, NC_000001.10:g.711220_711221del

Select item 14914653472.

rs1491465347 [Homo sapiens]

Variant type:: DEL
Alleles:: TC>- [Show Flanks]
Chromosome:: 1:775839 (GRCh38)
1:711219 (GRCh37)
Canonical SPDI:: NC_000001.11:775838:TC:
Gene:: LOC100288069 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000001.11:g.775839_775840del, NC_000001.10:g.711219_711220del

Select item 14913900993.

rs1491390099 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,AA,AAA,TA [Show Flanks]
Chromosome:: 1:775839 (GRCh38)
1:711220 (GRCh37)
Canonical SPDI:: NC_000001.11:775839::A,NC_000001.11:775839::AA,NC_000001.11:775839::AAA,NC_000001.11:775839::TA
Gene:: LOC100288069 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
HGVS:: NC_000001.11:g.775839_775840insA, NC_000001.11:g.775839_775840insAA, NC_000001.11:g.775839_775840insAAA, NC_000001.11:g.775839_775840insTA, NC_000001.10:g.711219_711220insA, NC_000001.10:g.711219_711220insAA, NC_000001.10:g.711219_711220insAAA, NC_000001.10:g.711219_711220insTA

Select item 14911553874.

rs1491155387 has merged into rs1234826386 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:775855 (GRCh38)
1:711235 (GRCh37)
Canonical SPDI:: NC_000001.11:775840:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:775840:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:775840:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:775840:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:775840:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:775840:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:775840:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:775840:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:775840:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:775840:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:775840:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:775840:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:775840:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:775840:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:775840:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: LOC100288069 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000001.11:g.775855_775860del, NC_000001.11:g.775856_775860del, NC_000001.11:g.775857_775860del, NC_000001.11:g.775858_775860del, NC_000001.11:g.775859_775860del, NC_000001.11:g.775860del, NC_000001.11:g.775860dup, NC_000001.11:g.775859_775860dup, NC_000001.11:g.775858_775860dup, NC_000001.11:g.775857_775860dup, NC_000001.11:g.775856_775860dup, NC_000001.11:g.775854_775860dup, NC_000001.11:g.775850_775860dup, NC_000001.11:g.775844_775860dup, NC_000001.11:g.775841_775860A[22]CAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.10:g.711235_711240del, NC_000001.10:g.711236_711240del, NC_000001.10:g.711237_711240del, NC_000001.10:g.711238_711240del, NC_000001.10:g.711239_711240del, NC_000001.10:g.711240del, NC_000001.10:g.711240dup, NC_000001.10:g.711239_711240dup, NC_000001.10:g.711238_711240dup, NC_000001.10:g.711237_711240dup, NC_000001.10:g.711236_711240dup, NC_000001.10:g.711234_711240dup, NC_000001.10:g.711230_711240dup, NC_000001.10:g.711224_711240dup, NC_000001.10:g.711221_711240A[22]CAAAAAAAAAAAAAAAAAAAAAAAAAA[1]

Select item 14907568925.

rs1490756892 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:765433 (GRCh38)
1:700813 (GRCh37)
Canonical SPDI:: NC_000001.11:765432:C:T
Gene:: LOC100288069 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00017/2 (ALFA)
T=0.00062/4 (1000Genomes)
HGVS:: NC_000001.11:g.765433C>T, NC_000001.10:g.700813C>T

Select item 14907468976.

rs1490746897 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:764714 (GRCh38)
1:700094 (GRCh37)
Canonical SPDI:: NC_000001.11:764713:G:A
Gene:: LOC100288069 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.764714G>A, NC_000001.10:g.700094G>A

Select item 14907130987.

rs1490713098 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 1:778485 (GRCh38)
1:713865 (GRCh37)
Canonical SPDI:: NC_000001.11:778484:T:C,NC_000001.11:778484:T:G
Gene:: LOC100288069 (Varview), LINC01409 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.778485T>C, NC_000001.11:g.778485T>G, NC_000001.10:g.713865T>C, NC_000001.10:g.713865T>G, NR_168328.1:n.150A>G, NR_168328.1:n.150A>C, NR_033908.1:n.204A>G, NR_033908.1:n.204A>C

Select item 14906769608.

rs1490676960 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:777840 (GRCh38)
1:713220 (GRCh37)
Canonical SPDI:: NC_000001.11:777839:T:C
Gene:: LOC100288069 (Varview), LINC01409 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.01541/45 (KOREAN)
HGVS:: NC_000001.11:g.777840T>C, NC_000001.10:g.713220T>C

Select item 14905152389.

rs1490515238 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:766480 (GRCh38)
1:701860 (GRCh37)
Canonical SPDI:: NC_000001.11:766479:G:A
Gene:: LOC100288069 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000022/3 (GnomAD)
HGVS:: NC_000001.11:g.766480G>A, NC_000001.10:g.701860G>A

Select item 149047030010.

rs1490470300 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:779329 (GRCh38)
1:714709 (GRCh37)
Canonical SPDI:: NC_000001.11:779328:A:T
Gene:: LOC100288069 (Varview), LINC01409 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.779329A>T, NC_000001.10:g.714709A>T

Select item 149026670511.

rs1490266705 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:766449 (GRCh38)
1:701829 (GRCh37)
Canonical SPDI:: NC_000001.11:766448:A:G
Gene:: LOC100288069 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000023/6 (TOPMED)
G=0.000029/4 (GnomAD)
HGVS:: NC_000001.11:g.766449A>G, NC_000001.10:g.701829A>G

Select item 149019524212.

rs1490195242 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:769034 (GRCh38)
1:704414 (GRCh37)
Canonical SPDI:: NC_000001.11:769033:G:A,NC_000001.11:769033:G:C
Gene:: LOC100288069 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00008/1 (ALFA)
G=0.5/2 (SGDP_PRJ)
HGVS:: NC_000001.11:g.769034G>A, NC_000001.11:g.769034G>C, NC_000001.10:g.704414G>A, NC_000001.10:g.704414G>C

Select item 149016360413.

rs1490163604 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:770872 (GRCh38)
1:706252 (GRCh37)
Canonical SPDI:: NC_000001.11:770871:G:T
Gene:: LOC100288069 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.770872G>T, NC_000001.10:g.706252G>T

Select item 148998137614.

rs1489981376 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:780455 (GRCh38)
1:715835 (GRCh37)
Canonical SPDI:: NC_000001.11:780454:T:G
Gene:: LOC100288069 (Varview), LINC01409 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.780455T>G, NC_000001.10:g.715835T>G

Select item 148986117115.

rs1489861171 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 1:777497 (GRCh38)
1:712877 (GRCh37)
Canonical SPDI:: NC_000001.11:777496:A:G,NC_000001.11:777496:A:T
Gene:: LOC100288069 (Varview), LINC01409 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.777497A>G, NC_000001.11:g.777497A>T, NC_000001.10:g.712877A>G, NC_000001.10:g.712877A>T

Select item 148955528316.

rs1489555283 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:772821 (GRCh38)
1:708201 (GRCh37)
Canonical SPDI:: NC_000001.11:772820:G:A
Gene:: LOC100288069 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000001.11:g.772821G>A, NC_000001.10:g.708201G>A

Select item 148945947917.

rs1489459479 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:770224 (GRCh38)
1:705604 (GRCh37)
Canonical SPDI:: NC_000001.11:770223:C:A
Gene:: LOC100288069 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000253/3 (ALFA)
A=0.000207/29 (GnomAD)
A=0.000208/55 (TOPMED)
HGVS:: NC_000001.11:g.770224C>A, NC_000001.10:g.705604C>A

Select item 148940868618.

rs1489408686 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:771804 (GRCh38)
1:707184 (GRCh37)
Canonical SPDI:: NC_000001.11:771803:G:A,NC_000001.11:771803:G:T
Gene:: LOC100288069 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000001.11:g.771804G>A, NC_000001.11:g.771804G>T, NC_000001.10:g.707184G>A, NC_000001.10:g.707184G>T

Select item 148933100519.

rs1489331005 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 1:776282 (GRCh38)
1:711662 (GRCh37)
Canonical SPDI:: NC_000001.11:776281:C:A,NC_000001.11:776281:C:G,NC_000001.11:776281:C:T
Gene:: LOC100288069 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000001.11:g.776282C>A, NC_000001.11:g.776282C>G, NC_000001.11:g.776282C>T, NC_000001.10:g.711662C>A, NC_000001.10:g.711662C>G, NC_000001.10:g.711662C>T

Select item 148931115220.

rs1489311152 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:776839 (GRCh38)
1:712219 (GRCh37)
Canonical SPDI:: NC_000001.11:776838:G:A
Gene:: LOC100288069 (Varview), LINC01409 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.776839G>A, NC_000001.10:g.712219G>A

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