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Select item 14915893961.

rs1491589396 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTTT [Show Flanks]
Chromosome:: 12:32115388 (GRCh38)
12:32268323 (GRCh37)
Canonical SPDI:: NC_000012.12:32115388:TTT:TTTGTTT
Gene:: BICD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTGTTT=0.00008/1 (ALFA)
TTTG=0.00056/15 (GnomAD)
HGVS:: NC_000012.12:g.32115391_32115392insGTTT, NC_000012.11:g.32268325_32268326insGTTT

Select item 14915787722.

rs1491578772 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 12:32177770 (GRCh38)
12:32330704 (GRCh37)
Canonical SPDI:: NC_000012.12:32177763:ATATATAT:ATATAT
Gene:: BICD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATAT=0./0 (ALFA)
-=0.00007/1 (GnomAD)
-=0.00057/1 (Korea1K)
HGVS:: NC_000012.12:g.32177764AT[3], NC_000012.11:g.32330698AT[3]

Select item 14915465503.

rs1491546550 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 12:32120896 (GRCh38)
12:32273831 (GRCh37)
Canonical SPDI:: NC_000012.12:32120896::G
Gene:: BICD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.0002/14 (GnomAD)
G=0.00119/20 (TOMMO)
HGVS:: NC_000012.12:g.32120896_32120897insG, NC_000012.11:g.32273830_32273831insG

Select item 14915288094.

rs1491528809 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GT [Show Flanks]
Chromosome:: 12:32117682 (GRCh38)
12:32270617 (GRCh37)
Canonical SPDI:: NC_000012.12:32117682:T:TGT
Gene:: BICD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TGT=0./0 (ALFA)
TG=0.00017/2 (GnomAD)
HGVS:: NC_000012.12:g.32117683_32117684insGT, NC_000012.11:g.32270617_32270618insGT

Select item 14915282935.

rs1491528293 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 12:32122488 (GRCh38)
12:32275422 (GRCh37)
Canonical SPDI:: NC_000012.12:32122487:CA:
Gene:: BICD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00076/9 (ALFA)
HGVS:: NC_000012.12:g.32122488_32122489del, NC_000012.11:g.32275422_32275423del

Select item 14915219286.

rs1491521928 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 12:32376887 (GRCh38)
12:32529822 (GRCh37)
Canonical SPDI:: NC_000012.12:32376887::C
Gene:: BICD1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.002866/34 (ALFA)
C=0.002921/349 (GnomAD)
C=0.011495/188 (TOMMO)
HGVS:: NC_000012.12:g.32376887_32376888insC, NC_000012.11:g.32529821_32529822insC

Select item 14915188917.

rs1491518891 [Homo sapiens]

Variant type:: DEL
Alleles:: AC>- [Show Flanks]
Chromosome:: 12:32346582 (GRCh38)
12:32499516 (GRCh37)
Canonical SPDI:: NC_000012.12:32346581:AC:
Gene:: BICD1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00775/6 (Korea1K)
-=0.01855/254 (GnomAD)
-=0.02927/332 (TOMMO)
HGVS:: NC_000012.12:g.32346582_32346583del, NC_000012.11:g.32499516_32499517del

Select item 14915139258.

rs1491513925 [Homo sapiens]

Variant type:: INS
Alleles:: ->TTA,TTTTTTTA,TTTTTTTTTTA,TTTTTTTTTTTA [Show Flanks]
Chromosome:: 12:32182300 (GRCh38)
12:32335235 (GRCh37)
Canonical SPDI:: NC_000012.12:32182300::TTA,NC_000012.12:32182300::TTTTTTTA,NC_000012.12:32182300::TTTTTTTTTTA,NC_000012.12:32182300::TTTTTTTTTTTA
Gene:: BICD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: TTTTTTTTTTA=0.00007/2 (TOMMO)
HGVS:: NC_000012.12:g.32182300_32182301insTTA, NC_000012.12:g.32182300_32182301insTTTTTTTA, NC_000012.12:g.32182300_32182301insTTTTTTTTTTA, NC_000012.12:g.32182300_32182301insTTTTTTTTTTTA, NC_000012.11:g.32335234_32335235insTTA, NC_000012.11:g.32335234_32335235insTTTTTTTA, NC_000012.11:g.32335234_32335235insTTTTTTTTTTA, NC_000012.11:g.32335234_32335235insTTTTTTTTTTTA

Select item 14915042219.

rs1491504221 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 12:32182300 (GRCh38)
12:32335234 (GRCh37)
Canonical SPDI:: NC_000012.12:32182299:TG:
Gene:: BICD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000012.12:g.32182300_32182301del, NC_000012.11:g.32335234_32335235del

Select item 149150079810.

rs1491500798 has merged into rs35108159 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTT [Show Flanks]
Chromosome:: 12:32249700 (GRCh38)
12:32402634 (GRCh37)
Canonical SPDI:: NC_000012.12:32249689:TTTTTTTTTTTT:TTTTTTTTTT,NC_000012.12:32249689:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000012.12:32249689:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:32249689:TTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:32249689:TTTTTTTTTTTT:TTTTTTTTTTTTTTT
Gene:: BICD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
T=0.1781/892 (1000Genomes)
T=0.367/218 (NorthernSweden)
T=0.4/16 (GENOME_DK)
HGVS:: NC_000012.12:g.32249700_32249701del, NC_000012.12:g.32249701del, NC_000012.12:g.32249701dup, NC_000012.12:g.32249700_32249701dup, NC_000012.12:g.32249699_32249701dup, NC_000012.11:g.32402634_32402635del, NC_000012.11:g.32402635del, NC_000012.11:g.32402635dup, NC_000012.11:g.32402634_32402635dup, NC_000012.11:g.32402633_32402635dup

Select item 149147175011.

rs1491471750 [Homo sapiens]

Variant type:: DEL
Alleles:: AC>- [Show Flanks]
Chromosome:: 12:32346612 (GRCh38)
12:32499546 (GRCh37)
Canonical SPDI:: NC_000012.12:32346611:AC:
Gene:: BICD1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00075/7 (TOMMO)
-=0.00108/4 (GnomAD)
HGVS:: NC_000012.12:g.32346612_32346613del, NC_000012.11:g.32499546_32499547del

Select item 149147171412.

rs1491471714 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 12:32257211 (GRCh38)
12:32410145 (GRCh37)
Canonical SPDI:: NC_000012.12:32257210:CA:
Gene:: BICD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00025/3 (ALFA)
HGVS:: NC_000012.12:g.32257211_32257212del, NC_000012.11:g.32410145_32410146del

Select item 149146168013.

rs1491461680 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 12:32142405 (GRCh38)
12:32295340 (GRCh37)
Canonical SPDI:: NC_000012.12:32142405::G
Gene:: BICD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.00002/1 (GnomAD)
HGVS:: NC_000012.12:g.32142405_32142406insG, NC_000012.11:g.32295339_32295340insG

Select item 149145937314.

rs1491459373 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 12:32182891 (GRCh38)
12:32335826 (GRCh37)
Canonical SPDI:: NC_000012.12:32182891::C
Gene:: BICD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000012.12:g.32182891_32182892insC, NC_000012.11:g.32335825_32335826insC

Select item 149145769315.

rs1491457693 [Homo sapiens]

Variant type:: DELINS
Alleles:: AC>- [Show Flanks]
Chromosome:: 12:32118723 (GRCh38)
12:32271657 (GRCh37)
Canonical SPDI:: NC_000012.12:32118719:CACAC:CAC
Gene:: BICD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CAC=0./0 (ALFA)
-=0.000038/10 (TOPMED)
HGVS:: NC_000012.12:g.32118721AC[1], NC_000012.11:g.32271655AC[1]

Select item 149145215716.

rs1491452157 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 12:32142405 (GRCh38)
12:32295339 (GRCh37)
Canonical SPDI:: NC_000012.12:32142404:TA:
Gene:: BICD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000012.12:g.32142405_32142406del, NC_000012.11:g.32295339_32295340del

Select item 149144798917.

rs1491447989 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 12:32346612 (GRCh38)
12:32499547 (GRCh37)
Canonical SPDI:: NC_000012.12:32346612:C:CC
Gene:: BICD1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
HGVS:: NC_000012.12:g.32346613dup, NC_000012.11:g.32499547dup

Select item 149144035518.

rs1491440355 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 12:32346582 (GRCh38)
12:32499517 (GRCh37)
Canonical SPDI:: NC_000012.12:32346582:C:CC
Gene:: BICD1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
HGVS:: NC_000012.12:g.32346583dup, NC_000012.11:g.32499517dup

Select item 149144018019.

rs1491440180 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>-,GTGT [Show Flanks]
Chromosome:: 12:32346638 (GRCh38)
12:32499572 (GRCh37)
Canonical SPDI:: NC_000012.12:32346635:GTGT:GT,NC_000012.12:32346635:GTGT:GTGTGT
Gene:: BICD1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGT=0./0 (ALFA)
-=0.00013/3 (GnomAD)
HGVS:: NC_000012.12:g.32346636GT[1], NC_000012.12:g.32346636GT[3], NC_000012.11:g.32499570GT[1], NC_000012.11:g.32499570GT[3]

Select item 149140428320.

rs1491404283 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>-,GTGT,GTGTGTGT [Show Flanks]
Chromosome:: 12:32346616 (GRCh38)
12:32499550 (GRCh37)
Canonical SPDI:: NC_000012.12:32346613:GTGT:GT,NC_000012.12:32346613:GTGT:GTGTGT,NC_000012.12:32346613:GTGT:GTGTGTGTGT
Gene:: BICD1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGT=0./0 (ALFA)
-=0.00005/1 (GnomAD)
-=0.00012/1 (TOMMO)
HGVS:: NC_000012.12:g.32346614GT[1], NC_000012.12:g.32346614GT[3], NC_000012.12:g.32346614GT[5], NC_000012.11:g.32499548GT[1], NC_000012.11:g.32499548GT[3], NC_000012.11:g.32499548GT[5]

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