SNP Links for Gene (Select 2735) - SNP

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 20 of 3858

<< First< Prev

Page of 193

Next >Last >>

Select item 14910721521.

rs1491072152 has merged into rs763366124 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>- [Show Flanks]
Chromosome:: 12:57459161 (GRCh38)
12:57852944 (GRCh37)
Canonical SPDI:: NC_000012.12:57459158:TTTT:TT
Gene:: GLI1 (Varview), LOC124902947 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by cluster
MAF:: -=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.57459161_57459162del, NC_000012.11:g.57852944_57852945del, NG_029564.1:g.4027_4028del, XR_007063335.1:n.632_633del

Select item 14909095992.

rs1490909599 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:57461258 (GRCh38)
12:57855041 (GRCh37)
Canonical SPDI:: NC_000012.12:57461257:G:T
Gene:: GLI1 (Varview), LOC124902947 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.57461258G>T, NC_000012.11:g.57855041G>T, NG_029564.1:g.6124G>T

Select item 14908170643.

rs1490817064 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 12:57461993 (GRCh38)
12:57855776 (GRCh37)
Canonical SPDI:: NC_000012.12:57461992:T:C,NC_000012.12:57461992:T:G
Gene:: GLI1 (Varview), LOC124902947 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000012.12:g.57461993T>C, NC_000012.12:g.57461993T>G, NC_000012.11:g.57855776T>C, NC_000012.11:g.57855776T>G, NG_029564.1:g.6859T>C, NG_029564.1:g.6859T>G

Select item 14906260224.

rs1490626022 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:57461745 (GRCh38)
12:57855528 (GRCh37)
Canonical SPDI:: NC_000012.12:57461744:G:A
Gene:: GLI1 (Varview), LOC124902947 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.57461745G>A, NC_000012.11:g.57855528G>A, NG_029564.1:g.6611G>A

Select item 14904292785.

rs1490429278 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:57468746 (GRCh38)
12:57862529 (GRCh37)
Canonical SPDI:: NC_000012.12:57468745:T:C
Gene:: GLI1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.57468746T>C, NC_000012.11:g.57862529T>C, NG_029564.1:g.13612T>C

Select item 14901040746.

rs1490104074 [Homo sapiens]

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

Select item 14900325027.

rs1490032502 [Homo sapiens]

Variant type:: SNV:
Alleles:: A>T
Chromosome:: no mapping
Canonical SPDI:

Select item 14898181728.

rs1489818172 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:57461369 (GRCh38)
12:57855152 (GRCh37)
Canonical SPDI:: NC_000012.12:57461368:G:A
Gene:: GLI1 (Varview), LOC124902947 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.57461369G>A, NC_000012.11:g.57855152G>A, NG_029564.1:g.6235G>A

Select item 14893625559.

rs1489362555 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:57471332 (GRCh38)
12:57865115 (GRCh37)
Canonical SPDI:: NC_000012.12:57471331:C:T
Gene:: GLI1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.57471332C>T, NC_000012.11:g.57865115C>T, NG_023205.2:g.22483G>A, NG_029564.1:g.16198C>T, NM_005269.3:c.2592C>T, NM_005269.2:c.2592C>T, NM_001167609.2:c.2469C>T, NM_001167609.1:c.2469C>T, NM_001160045.2:c.2208C>T, NM_001160045.1:c.2208C>T, XM_011538189.3:c.2592C>T, XM_011538189.2:c.2592C>T, XM_011538189.1:c.2592C>T, XM_011538190.3:c.2361C>T, XM_011538190.2:c.2361C>T, XM_011538190.1:c.2361C>T

Select item 148909372810.

rs1489093728 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:57462436 (GRCh38)
12:57856219 (GRCh37)
Canonical SPDI:: NC_000012.12:57462435:C:T
Gene:: GLI1 (Varview), LOC124902947 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.57462436C>T, NC_000012.11:g.57856219C>T, NG_029564.1:g.7302C>T

Select item 148907273011.

rs1489072730 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 12:57471905 (GRCh38)
12:57865689 (GRCh37)
Canonical SPDI:: NC_000012.12:57471905:CCCC:CCCCC
Gene:: GLI1 (Varview), ARHGAP9 (Varview)
Functional Consequence:: frameshift_variant,downstream_transcript_variant,coding_sequence_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCC=0.000043/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000156/1 (1000Genomes)
HGVS:: NC_000012.12:g.57471909dup, NC_000012.11:g.57865692dup, NG_023205.2:g.21909dup, NG_029564.1:g.16775dup, NM_005269.3:c.3169dup, NM_005269.2:c.3169dup, NM_001167609.2:c.3046dup, NM_001167609.1:c.3046dup, NM_001160045.2:c.2785dup, NM_001160045.1:c.2785dup, XM_011538189.3:c.3169dup, XM_011538189.2:c.3169dup, XM_011538189.1:c.3169dup, XM_011538190.3:c.2938dup, XM_011538190.2:c.2938dup, XM_011538190.1:c.2938dup, NP_005260.1:p.Gln1057fs, NP_001161081.1:p.Gln1016fs, NP_001153517.1:p.Gln929fs, XP_011536491.1:p.Gln1057fs, XP_011536492.1:p.Gln980fs

Select item 148884979912.

rs1488849799 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:57472053 (GRCh38)
12:57865836 (GRCh37)
Canonical SPDI:: NC_000012.12:57472052:A:G
Gene:: GLI1 (Varview), ARHGAP9 (Varview)
Functional Consequence:: downstream_transcript_variant,coding_sequence_variant,500B_downstream_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.57472053A>G, NC_000012.11:g.57865836A>G, NG_023205.2:g.21762T>C, NG_029564.1:g.16919A>G, NM_005269.3:c.3313A>G, NM_005269.2:c.3313A>G, NM_001167609.2:c.3190A>G, NM_001167609.1:c.3190A>G, NM_001160045.2:c.2929A>G, NM_001160045.1:c.2929A>G, XM_011538189.3:c.3313A>G, XM_011538189.2:c.3313A>G, XM_011538189.1:c.3313A>G, XM_011538190.3:c.3082A>G, XM_011538190.2:c.3082A>G, XM_011538190.1:c.3082A>G, NP_005260.1:p.Ser1105Gly, NP_001161081.1:p.Ser1064Gly, NP_001153517.1:p.Ser977Gly, XP_011536491.1:p.Ser1105Gly, XP_011536492.1:p.Ser1028Gly

Select item 148880501213.

rs1488805012 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 12:57467565 (GRCh38)
12:57861348 (GRCh37)
Canonical SPDI:: NC_000012.12:57467564:AAA:AA
Gene:: GLI1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.57467567del, NC_000012.11:g.57861350del, NG_029564.1:g.12433del

Select item 148869373914.

rs1488693739 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:57466641 (GRCh38)
12:57860424 (GRCh37)
Canonical SPDI:: NC_000012.12:57466640:C:T
Gene:: GLI1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.57466641C>T, NC_000012.11:g.57860424C>T, NG_029564.1:g.11507C>T

Select item 148832554215.

rs1488325542 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 12:57471977 (GRCh38)
12:57865761 (GRCh37)
Canonical SPDI:: NC_000012.12:57471977:CCCCCC:CCCCCCC
Gene:: GLI1 (Varview), ARHGAP9 (Varview)
Functional Consequence:: frameshift_variant,downstream_transcript_variant,coding_sequence_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: CCCCCCC=0./0 (ALFA)
HGVS:: NC_000012.12:g.57471983dup, NC_000012.11:g.57865766dup, NG_023205.2:g.21837dup, NG_029564.1:g.16849dup, NM_005269.3:c.3243dup, NM_005269.2:c.3243dup, NM_001167609.2:c.3120dup, NM_001167609.1:c.3120dup, NM_001160045.2:c.2859dup, NM_001160045.1:c.2859dup, XM_011538189.3:c.3243dup, XM_011538189.2:c.3243dup, XM_011538189.1:c.3243dup, XM_011538190.3:c.3012dup, XM_011538190.2:c.3012dup, XM_011538190.1:c.3012dup, NP_005260.1:p.Asn1082fs, NP_001161081.1:p.Asn1041fs, NP_001153517.1:p.Asn954fs, XP_011536491.1:p.Asn1082fs, XP_011536492.1:p.Asn1005fs

Select item 148824385116.

rs1488243851 [Homo sapiens]

Variant type:: DELINS
Alleles:: CC>- [Show Flanks]
Chromosome:: 12:57462408 (GRCh38)
12:57856191 (GRCh37)
Canonical SPDI:: NC_000012.12:57462406:CCC:C
Gene:: GLI1 (Varview), LOC124902947 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.57462408_57462409del, NC_000012.11:g.57856191_57856192del, NG_029564.1:g.7274_7275del

Select item 148807894317.

rs1488078943 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:57471492 (GRCh38)
12:57865275 (GRCh37)
Canonical SPDI:: NC_000012.12:57471491:G:T
Gene:: GLI1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.57471492G>T, NC_000012.11:g.57865275G>T, NG_023205.2:g.22323C>A, NG_029564.1:g.16358G>T, NM_005269.3:c.2752G>T, NM_005269.2:c.2752G>T, NM_001167609.2:c.2629G>T, NM_001167609.1:c.2629G>T, NM_001160045.2:c.2368G>T, NM_001160045.1:c.2368G>T, XM_011538189.3:c.2752G>T, XM_011538189.2:c.2752G>T, XM_011538189.1:c.2752G>T, XM_011538190.3:c.2521G>T, XM_011538190.2:c.2521G>T, XM_011538190.1:c.2521G>T, NP_005260.1:p.Ala918Ser, NP_001161081.1:p.Ala877Ser, NP_001153517.1:p.Ala790Ser, XP_011536491.1:p.Ala918Ser, XP_011536492.1:p.Ala841Ser

Select item 148791789618.

rs1487917896 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>-,GG,GGGGGGG,GGGGGGGG [Show Flanks]
Chromosome:: 12:57460076 (GRCh38)
12:57853859 (GRCh37)
Canonical SPDI:: NC_000012.12:57460075:GGGGGGG:GGGGGG,NC_000012.12:57460075:GGGGGGG:GGGGGGGG,NC_000012.12:57460075:GGGGGGG:GGGGGGGGGGGGG,NC_000012.12:57460075:GGGGGGG:GGGGGGGGGGGGGG
Gene:: GLI1 (Varview), LOC124902947 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGG=0./0 (ALFA)
HGVS:: NC_000012.12:g.57460082del, NC_000012.12:g.57460082dup, NC_000012.12:g.57460077_57460082dup, NC_000012.12:g.57460076_57460082dup, NC_000012.11:g.57853865del, NC_000012.11:g.57853865dup, NC_000012.11:g.57853860_57853865dup, NC_000012.11:g.57853859_57853865dup, NG_029564.1:g.4948del, NG_029564.1:g.4948dup, NG_029564.1:g.4943_4948dup, NG_029564.1:g.4942_4948dup, NM_005269.3:c.-147del, NM_005269.3:c.-147dup, NM_005269.3:c.-152_-147dup, NM_005269.3:c.-153_-147dup, NM_001167609.2:c.-147del, NM_001167609.2:c.-147dup, NM_001167609.2:c.-152_-147dup, NM_001167609.2:c.-153_-147dup, NM_001160045.2:c.-311del, NM_001160045.2:c.-311dup, NM_001160045.2:c.-316_-311dup, NM_001160045.2:c.-317_-311dup, XM_011538190.3:c.-147del, XM_011538190.3:c.-147dup, XM_011538190.3:c.-152_-147dup, XM_011538190.3:c.-153_-147dup

Select item 148782974319.

rs1487829743 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 12:57465595 (GRCh38)
12:57859378 (GRCh37)
Canonical SPDI:: NC_000012.12:57465594:CCCC:CCC
Gene:: GLI1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.00021/4 (TOMMO)
HGVS:: NC_000012.12:g.57465598del, NC_000012.11:g.57859381del, NG_029564.1:g.10464del

Select item 148769202320.

rs1487692023 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 12:57469894 (GRCh38)
12:57863677 (GRCh37)
Canonical SPDI:: NC_000012.12:57469893:G:A,NC_000012.12:57469893:G:C,NC_000012.12:57469893:G:T
Gene:: GLI1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000012.12:g.57469894G>A, NC_000012.12:g.57469894G>C, NC_000012.12:g.57469894G>T, NC_000012.11:g.57863677G>A, NC_000012.11:g.57863677G>C, NC_000012.11:g.57863677G>T, NG_029564.1:g.14760G>A, NG_029564.1:g.14760G>C, NG_029564.1:g.14760G>T

<< First< Prev

Page of 193

Next >Last >>

Supplemental Content

Filters: Manage Filters

Find related data

Recent activity

Clear Turn Off Turn On

SNP Links for Gene (Select 2735) (3858)
SNP

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to: