SNP Links for Gene (Select 101928608) - SNP

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Select item 14915323151.

rs1491532315 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 9:67853282 (GRCh38)
9:67920729 (GRCh37)
Canonical SPDI:: NC_000009.12:67853282::G
Gene:: LOC101928608 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00042/5 (ALFA)
G=0.00798/36 (GnomAD)
HGVS:: NC_000009.12:g.67853282_67853283insG, NC_000009.11:g.67920728_67920729insG, XR_007061899.1:n.3671_3672insG

Select item 14915203462.

rs1491520346 has merged into rs1169067730 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,AAAA,AAAAA,AAAAAA,AAAAAAAA [Show Flanks]
Chromosome:: 9:67853292 (GRCh38)
9:67920738 (GRCh37)
Canonical SPDI:: NC_000009.12:67853281:AAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000009.12:67853281:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000009.12:67853281:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000009.12:67853281:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000009.12:67853281:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
Gene:: LOC101928608 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000009.12:g.67853292_67853298del, NC_000009.12:g.67853296_67853298del, NC_000009.12:g.67853297_67853298del, NC_000009.12:g.67853298del, NC_000009.12:g.67853298dup, NC_000009.11:g.67920738_67920744del, NC_000009.11:g.67920742_67920744del, NC_000009.11:g.67920743_67920744del, NC_000009.11:g.67920744del, NC_000009.11:g.67920744dup, XR_007061899.1:n.3681_3687del, XR_007061899.1:n.3685_3687del, XR_007061899.1:n.3686_3687del, XR_007061899.1:n.3687del, XR_007061899.1:n.3687dup

Select item 14911119163.

rs1491111916 [Homo sapiens]

Variant type:: INS
Alleles:: ->GT [Show Flanks]
Chromosome:: 9:67852592 (GRCh38)
9:67920039 (GRCh37)
Canonical SPDI:: NC_000009.12:67852592::GT
Gene:: LOC101928608 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: GT=0./0 (ALFA)
GT=0.00005/3 (GnomAD)
HGVS:: NC_000009.12:g.67852592_67852593insGT, NC_000009.11:g.67920038_67920039insGT, XR_001746695.3:n.1734_1735insGT, XR_001746695.2:n.1730_1731insGT, XR_001746695.1:n.1729_1730insGT, XR_007061899.1:n.2981_2982insGT, XR_007061901.1:n.1657_1658insGT

Select item 14911057364.

rs1491105736 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 9:67848747 (GRCh38)
9:67916194 (GRCh37)
Canonical SPDI:: NC_000009.12:67848747:G:GG
Gene:: LOC101928608 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.67848748dup, NC_000009.11:g.67916194dup, XR_007061899.1:n.1717dup

Select item 14905526995.

rs1490552699 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 9:67830973 (GRCh38)
9:67898419 (GRCh37)
Canonical SPDI:: NC_000009.12:67830972:C:A,NC_000009.12:67830972:C:T
Gene:: LOC101928608 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
A=0.000318/5 (TOMMO)
A=0.000684/2 (KOREAN)
HGVS:: NC_000009.12:g.67830973C>A, NC_000009.12:g.67830973C>T, NC_000009.11:g.67898419C>A, NC_000009.11:g.67898419C>T

Select item 14905127006.

rs1490512700 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 9:67836382 (GRCh38)
9:67903828 (GRCh37)
Canonical SPDI:: NC_000009.12:67836381:A:C,NC_000009.12:67836381:A:G
Gene:: LOC101928608 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000009.12:g.67836382A>C, NC_000009.12:g.67836382A>G, NC_000009.11:g.67903828A>C, NC_000009.11:g.67903828A>G

Select item 14904854947.

rs1490485494 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 9:67835555 (GRCh38)
9:67903001 (GRCh37)
Canonical SPDI:: NC_000009.12:67835554:T:A,NC_000009.12:67835554:T:G
Gene:: LOC101928608 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.67835555T>A, NC_000009.12:g.67835555T>G, NC_000009.11:g.67903001T>A, NC_000009.11:g.67903001T>G

Select item 14904400048.

rs1490440004 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 9:67837246 (GRCh38)
9:67904692 (GRCh37)
Canonical SPDI:: NC_000009.12:67837245:C:A,NC_000009.12:67837245:C:T
Gene:: LOC101928608 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000009.12:g.67837246C>A, NC_000009.12:g.67837246C>T, NC_000009.11:g.67904692C>A, NC_000009.11:g.67904692C>T

Select item 14903652769.

rs1490365276 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 9:67837032 (GRCh38)
9:67904478 (GRCh37)
Canonical SPDI:: NC_000009.12:67837031:T:C,NC_000009.12:67837031:T:G
Gene:: LOC101928608 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000015/2 (GnomAD)
G=0.031557/90 (KOREAN)
HGVS:: NC_000009.12:g.67837032T>C, NC_000009.12:g.67837032T>G, NC_000009.11:g.67904478T>C, NC_000009.11:g.67904478T>G

Select item 149032458610.

rs1490324586 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGGAGGAAGA>- [Show Flanks]
Chromosome:: 9:67834180 (GRCh38)
9:67901626 (GRCh37)
Canonical SPDI:: NC_000009.12:67834176:AGATGGAGGAAGA:AGA
Gene:: LOC101928608 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: AGA=0.00009/1 (ALFA)
HGVS:: NC_000009.12:g.67834180_67834189del, NC_000009.11:g.67901626_67901635del

Select item 149027817511.

rs1490278175 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 9:67836460 (GRCh38)
9:67903906 (GRCh37)
Canonical SPDI:: NC_000009.12:67836459:T:A,NC_000009.12:67836459:T:C
Gene:: LOC101928608 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.00008/1 (ALFA)
HGVS:: NC_000009.12:g.67836460T>A, NC_000009.12:g.67836460T>C, NC_000009.11:g.67903906T>A, NC_000009.11:g.67903906T>C

Select item 149024479812.

rs1490244798 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:67850672 (GRCh38)
9:67918118 (GRCh37)
Canonical SPDI:: NC_000009.12:67850671:A:G
Gene:: LOC101928608 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000023/3 (GnomAD)
HGVS:: NC_000009.12:g.67850672A>G, NC_000009.11:g.67918118A>G

Select item 149023253113.

rs1490232531 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:67838103 (GRCh38)
9:67905549 (GRCh37)
Canonical SPDI:: NC_000009.12:67838102:A:G
Gene:: LOC101928608 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000084/1 (ALFA)
G=0.000019/5 (TOPMED)
G=0.000023/3 (GnomAD)
HGVS:: NC_000009.12:g.67838103A>G, NC_000009.11:g.67905549A>G

Select item 149020205514.

rs1490202055 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 9:67837377 (GRCh38)
9:67904823 (GRCh37)
Canonical SPDI:: NC_000009.12:67837376:T:A
Gene:: LOC101928608 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000084/1 (ALFA)
A=0.000047/6 (GnomAD)
HGVS:: NC_000009.12:g.67837377T>A, NC_000009.11:g.67904823T>A

Select item 149014088115.

rs1490140881 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 9:67842581 (GRCh38)
9:67910027 (GRCh37)
Canonical SPDI:: NC_000009.12:67842580:T:A
Gene:: LOC101928608 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000009.12:g.67842581T>A, NC_000009.11:g.67910027T>A

Select item 149000454716.

rs1490004547 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 9:67843904 (GRCh38)
9:67911350 (GRCh37)
Canonical SPDI:: NC_000009.12:67843903:G:T
Gene:: LOC101928608 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000009.12:g.67843904G>T, NC_000009.11:g.67911350G>T

Select item 148984745017.

rs1489847450 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 9:67851366 (GRCh38)
9:67918812 (GRCh37)
Canonical SPDI:: NC_000009.12:67851365:G:A,NC_000009.12:67851365:G:T
Gene:: LOC101928608 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000553/9 (ALFA)
T=0.000004/1 (TOPMED)
A=0.000071/1 (TOMMO)
G=0.5/2 (SGDP_PRJ)
HGVS:: NC_000009.12:g.67851366G>A, NC_000009.12:g.67851366G>T, NC_000009.11:g.67918812G>A, NC_000009.11:g.67918812G>T

Select item 148967592418.

rs1489675924 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:67849888 (GRCh38)
9:67917334 (GRCh37)
Canonical SPDI:: NC_000009.12:67849887:G:A
Gene:: LOC101928608 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.02701/441 (ALFA)
G=0./0 (SGDP_PRJ)
A=0.00884/140 (TOMMO)
A=0.01654/47 (KOREAN)
A=0.03258/58 (Korea1K)
HGVS:: NC_000009.12:g.67849888G>A, NC_000009.11:g.67917334G>A

Select item 148964437119.

rs1489644371 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:67847571 (GRCh38)
9:67915017 (GRCh37)
Canonical SPDI:: NC_000009.12:67847570:C:T
Gene:: LOC101928608 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000071/2 (TOMMO)
T=0.001092/2 (Korea1K)
HGVS:: NC_000009.12:g.67847571C>T, NC_000009.11:g.67915017C>T, XR_001746695.3:n.665C>T, XR_001746695.2:n.661C>T, XR_001746695.1:n.660C>T, XR_007061899.1:n.665C>T, XR_007061901.1:n.588C>T, XR_007061900.1:n.665C>T

Select item 148959152620.

rs1489591526 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 9:67835263 (GRCh38)
9:67902709 (GRCh37)
Canonical SPDI:: NC_000009.12:67835262:A:T
Gene:: LOC101928608 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00013/1 (GnomAD)
T=0.00049/7 (TOMMO)
T=0.00334/8 (KOREAN)
HGVS:: NC_000009.12:g.67835263A>T, NC_000009.11:g.67902709A>T

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