SNP Links for Gene (Select 3090) - SNP

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Select item 14913466921.

rs1491346692 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 17:2054011 (GRCh38)
17:1957306 (GRCh37)
Canonical SPDI:: NC_000017.11:2054011::A
Gene:: HIC1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.00009/1 (GnomAD)
HGVS:: NC_000017.11:g.2054011_2054012insA, NC_000017.10:g.1957305_1957306insA, NG_027689.1:g.3913_3914insA

Select item 14912251332.

rs1491225133 has merged into rs34041482 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCCCCC>-,C,CC,CCC,CCCC,CCCCC,CCCCCCC,CCCCCCCC,CCCCCCCCC,CCCCCCCCCC,CCCCCCCCCCCC,CCCCCCCCCCCCCC [Show Flanks]
Chromosome:: 17:2054019 (GRCh38)
17:1957313 (GRCh37)
Canonical SPDI:: NC_000017.11:2054010:CCCCCCCCCCCCCC:CCCCCCCC,NC_000017.11:2054010:CCCCCCCCCCCCCC:CCCCCCCCC,NC_000017.11:2054010:CCCCCCCCCCCCCC:CCCCCCCCCC,NC_000017.11:2054010:CCCCCCCCCCCCCC:CCCCCCCCCCC,NC_000017.11:2054010:CCCCCCCCCCCCCC:CCCCCCCCCCCC,NC_000017.11:2054010:CCCCCCCCCCCCCC:CCCCCCCCCCCCC,NC_000017.11:2054010:CCCCCCCCCCCCCC:CCCCCCCCCCCCCCC,NC_000017.11:2054010:CCCCCCCCCCCCCC:CCCCCCCCCCCCCCCC,NC_000017.11:2054010:CCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCC,NC_000017.11:2054010:CCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCC,NC_000017.11:2054010:CCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCC,NC_000017.11:2054010:CCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCC
Gene:: HIC1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCCC=0./0 (ALFA)
CC=0.221/1107 (1000Genomes)
HGVS:: NC_000017.11:g.2054019_2054024del, NC_000017.11:g.2054020_2054024del, NC_000017.11:g.2054021_2054024del, NC_000017.11:g.2054022_2054024del, NC_000017.11:g.2054023_2054024del, NC_000017.11:g.2054024del, NC_000017.11:g.2054024dup, NC_000017.11:g.2054023_2054024dup, NC_000017.11:g.2054022_2054024dup, NC_000017.11:g.2054021_2054024dup, NC_000017.11:g.2054019_2054024dup, NC_000017.11:g.2054017_2054024dup, NC_000017.10:g.1957313_1957318del, NC_000017.10:g.1957314_1957318del, NC_000017.10:g.1957315_1957318del, NC_000017.10:g.1957316_1957318del, NC_000017.10:g.1957317_1957318del, NC_000017.10:g.1957318del, NC_000017.10:g.1957318dup, NC_000017.10:g.1957317_1957318dup, NC_000017.10:g.1957316_1957318dup, NC_000017.10:g.1957315_1957318dup, NC_000017.10:g.1957313_1957318dup, NC_000017.10:g.1957311_1957318dup, NG_027689.1:g.3921_3926del, NG_027689.1:g.3922_3926del, NG_027689.1:g.3923_3926del, NG_027689.1:g.3924_3926del, NG_027689.1:g.3925_3926del, NG_027689.1:g.3926del, NG_027689.1:g.3926dup, NG_027689.1:g.3925_3926dup, NG_027689.1:g.3924_3926dup, NG_027689.1:g.3923_3926dup, NG_027689.1:g.3921_3926dup, NG_027689.1:g.3919_3926dup

Select item 14911220563.

rs1491122056 [Homo sapiens]

Variant type:: DEL
Alleles:: AC>- [Show Flanks]
Chromosome:: 17:2054010 (GRCh38)
17:1957304 (GRCh37)
Canonical SPDI:: NC_000017.11:2054009:AC:
Gene:: HIC1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00016/1 (1000Genomes)
-=0.00035/10 (TOMMO)
HGVS:: NC_000017.11:g.2054010_2054011del, NC_000017.10:g.1957304_1957305del, NG_027689.1:g.3912_3913del

Select item 14911113934.

rs1491111393 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AC [Show Flanks]
Chromosome:: 17:2054009 (GRCh38)
17:1957304 (GRCh37)
Canonical SPDI:: NC_000017.11:2054009:AC:ACAC
Gene:: HIC1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: ACAC=0./0 (ALFA)
HGVS:: NC_000017.11:g.2054010_2054011dup, NC_000017.10:g.1957304_1957305dup, NG_027689.1:g.3912_3913dup

Select item 14904758405.

rs1490475840 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 17:2059383 (GRCh38)
17:1962677 (GRCh37)
Canonical SPDI:: NC_000017.11:2059382:A:C,NC_000017.11:2059382:A:T
Gene:: HIC1 (Varview), SMG6 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.001566/29 (ALFA)
T=0.000217/26 (GnomAD)
C=0.001027/3 (KOREAN)
T=0.00625/28 (Estonian)
HGVS:: NC_000017.11:g.2059383A>C, NC_000017.11:g.2059383A>T, NC_000017.10:g.1962677A>C, NC_000017.10:g.1962677A>T, NG_033980.1:g.249393T>G, NG_033980.1:g.249393T>A, NG_027689.1:g.9285A>C, NG_027689.1:g.9285A>T, NM_006497.4:c.*548A>C, NM_006497.4:c.*548A>T, NM_006497.3:c.*548A>C, NM_006497.3:c.*548A>T, NM_001098202.1:c.*548A>C, NM_001098202.1:c.*548A>T

Select item 14904646966.

rs1490464696 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GGGAGCCGCGGAGGG [Show Flanks]
Chromosome:: 17:2055853 (GRCh38)
17:1959148 (GRCh37)
Canonical SPDI:: NC_000017.11:2055853:GGGGGAGCCGCGGAGGG:GGGGGAGCCGCGGAGGGGGGAGCCGCGGAGGG
Gene:: HIC1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: GGGGGAGCCGCGGAGGGGGGAGCCGCGGAGGG=0./0 (ALFA)
GGGGGAGCCGCGGAG=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.2055856_2055870dup, NC_000017.10:g.1959150_1959164dup, NG_027689.1:g.5758_5772dup

Select item 14904333507.

rs1490433350 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGA>- [Show Flanks]
Chromosome:: 17:2058022 (GRCh38)
17:1961316 (GRCh37)
Canonical SPDI:: NC_000017.11:2058012:GGAGGAGGAGGA:GGAGGAGGA
Gene:: HIC1 (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGAGGAGGA=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.2058013GGA[3], NC_000017.10:g.1961307GGA[3], NG_033980.1:g.250752TCC[3], NG_027689.1:g.7915GGA[3], NM_006497.4:c.1323GGA[3], NM_006497.3:c.1323GGA[3], NM_001098202.1:c.1380GGA[3], NP_006488.2:p.Glu445del, NP_001091672.1:p.Glu464del

Select item 14898574298.

rs1489857429 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:2057095 (GRCh38)
17:1960389 (GRCh37)
Canonical SPDI:: NC_000017.11:2057094:G:C
Gene:: HIC1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.2057095G>C, NC_000017.10:g.1960389G>C, NG_027689.1:g.6997G>C, NM_006497.4:c.405G>C, NM_006497.3:c.405G>C, NM_001098202.1:c.462G>C, NP_006488.2:p.Lys135Asn, NP_001091672.1:p.Lys154Asn

Select item 14896654959.

rs1489665495 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:2054981 (GRCh38)
17:1958275 (GRCh37)
Canonical SPDI:: NC_000017.11:2054980:G:A
Gene:: HIC1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.2054981G>A, NC_000017.10:g.1958275G>A, NG_027689.1:g.4883G>A

Select item 148962530210.

rs1489625302 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:2056181 (GRCh38)
17:1959475 (GRCh37)
Canonical SPDI:: NC_000017.11:2056180:G:A
Gene:: HIC1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.2056181G>A, NC_000017.10:g.1959475G>A, NG_027689.1:g.6083G>A

Select item 148954040511.

rs1489540405 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:2053218 (GRCh38)
17:1956512 (GRCh37)
Canonical SPDI:: NC_000017.11:2053217:G:A,NC_000017.11:2053217:G:T
Gene:: HIC1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000017.11:g.2053218G>A, NC_000017.11:g.2053218G>T, NC_000017.10:g.1956512G>A, NC_000017.10:g.1956512G>T, NG_027689.1:g.3120G>A, NG_027689.1:g.3120G>T

Select item 148924308312.

rs1489243083 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:2059244 (GRCh38)
17:1962538 (GRCh37)
Canonical SPDI:: NC_000017.11:2059243:G:A,NC_000017.11:2059243:G:T
Gene:: HIC1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000017.11:g.2059244G>A, NC_000017.11:g.2059244G>T, NC_000017.10:g.1962538G>A, NC_000017.10:g.1962538G>T, NG_033980.1:g.249532C>T, NG_033980.1:g.249532C>A, NG_027689.1:g.9146G>A, NG_027689.1:g.9146G>T, NM_006497.4:c.*409G>A, NM_006497.4:c.*409G>T, NM_006497.3:c.*409G>A, NM_006497.3:c.*409G>T, NM_001098202.1:c.*409G>A, NM_001098202.1:c.*409G>T

Select item 148911724213.

rs1489117242 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CGC [Show Flanks]
Chromosome:: 17:2057499 (GRCh38)
17:1960794 (GRCh37)
Canonical SPDI:: NC_000017.11:2057499:GCCGCCGC:GCCGCCGCCGC
Gene:: HIC1 (Varview)
Functional Consequence:: inframe_insertion,coding_sequence_variant
Validated:: by frequency
MAF:: GCC=0.00001/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.2057502CGC[3], NC_000017.10:g.1960796CGC[3], NG_027689.1:g.7404CGC[3], NM_006497.4:c.812CGC[3], NM_006497.3:c.812CGC[3], NM_001098202.1:c.869CGC[3], NP_006488.2:p.Pro272dup, NP_001091672.1:p.Pro291dup

Select item 148877514314.

rs1488775143 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:2057305 (GRCh38)
17:1960599 (GRCh37)
Canonical SPDI:: NC_000017.11:2057304:C:G,NC_000017.11:2057304:C:T
Gene:: HIC1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000021/3 (GnomAD)
HGVS:: NC_000017.11:g.2057305C>G, NC_000017.11:g.2057305C>T, NC_000017.10:g.1960599C>G, NC_000017.10:g.1960599C>T, NG_027689.1:g.7207C>G, NG_027689.1:g.7207C>T, NM_006497.4:c.615C>G, NM_006497.4:c.615C>T, NM_006497.3:c.615C>G, NM_006497.3:c.615C>T, NM_001098202.1:c.672C>G, NM_001098202.1:c.672C>T

Select item 148861758315.

rs1488617583 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:2054185 (GRCh38)
17:1957479 (GRCh37)
Canonical SPDI:: NC_000017.11:2054184:C:G
Gene:: HIC1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000066/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000017.11:g.2054185C>G, NC_000017.10:g.1957479C>G, NG_027689.1:g.4087C>G

Select item 148821381416.

rs1488213814 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:2060162 (GRCh38)
17:1963456 (GRCh37)
Canonical SPDI:: NC_000017.11:2060161:G:A,NC_000017.11:2060161:G:T
Gene:: HIC1 (Varview), SMG6 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
A=0.000142/2 (TOMMO)
HGVS:: NC_000017.11:g.2060162G>A, NC_000017.11:g.2060162G>T, NC_000017.10:g.1963456G>A, NC_000017.10:g.1963456G>T, NG_033980.1:g.248614C>T, NG_033980.1:g.248614C>A, NM_017575.5:c.*1330C>T, NM_017575.5:c.*1330C>A, NM_017575.4:c.*1330C>T, NM_017575.4:c.*1330C>A, NM_001282326.2:c.*1330C>T, NM_001282326.2:c.*1330C>A, NM_001282326.1:c.*1330C>T, NM_001282326.1:c.*1330C>A, NM_001256827.2:c.*1330C>T, NM_001256827.2:c.*1330C>A, NM_001256827.1:c.*1330C>T, NM_001256827.1:c.*1330C>A, NM_001256828.1:c.*1330C>T, NM_001256828.1:c.*1330C>A, NG_027689.1:g.10064G>A, NG_027689.1:g.10064G>T, NM_006497.4:c.*1327G>A, NM_006497.4:c.*1327G>T, XM_005256571.6:c.*1330C>T, XM_005256571.6:c.*1330C>A, XM_005256571.5:c.*1330C>T, XM_005256571.5:c.*1330C>A, XM_005256571.4:c.*1330C>T, XM_005256571.4:c.*1330C>A, XM_005256571.3:c.*1330C>T, XM_005256571.3:c.*1330C>A, XM_005256571.2:c.*1330C>T, XM_005256571.2:c.*1330C>A, XM_005256571.1:c.*1330C>T, XM_005256571.1:c.*1330C>A, XM_005256569.5:c.*1330C>T, XM_005256569.5:c.*1330C>A, XM_005256569.4:c.*1330C>T, XM_005256569.4:c.*1330C>A, XM_005256569.3:c.*1330C>T, XM_005256569.3:c.*1330C>A, XM_005256569.2:c.*1330C>T, XM_005256569.2:c.*1330C>A, XM_005256569.1:c.*1330C>T, XM_005256569.1:c.*1330C>A, XM_011523769.3:c.*1330C>T, XM_011523769.3:c.*1330C>A, XM_011523769.2:c.*1330C>T, XM_011523769.2:c.*1330C>A, XM_011523769.1:c.*1330C>T, XM_011523769.1:c.*1330C>A, XM_011523775.3:c.*1330C>T, XM_011523775.3:c.*1330C>A, XM_011523775.2:c.*1330C>T, XM_011523775.2:c.*1330C>A, XM_011523775.1:c.*1330C>T, XM_011523775.1:c.*1330C>A, XM_017024399.3:c.*1330C>T, XM_017024399.3:c.*1330C>A, XM_017024399.2:c.*1330C>T, XM_017024399.2:c.*1330C>A, XM_017024399.1:c.*1330C>T, XM_017024399.1:c.*1330C>A, NR_046385.2:n.3920C>T, NR_046385.2:n.3920C>A, NM_001170957.1:c.*1330C>T, NM_001170957.1:c.*1330C>A, XM_047435696.1:c.*1330C>T, XM_047435696.1:c.*1330C>A, XM_047435699.1:c.*1330C>T, XM_047435699.1:c.*1330C>A, XM_047435700.1:c.*1330C>T, XM_047435700.1:c.*1330C>A

Select item 148817164517.

rs1488171645 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:2056490 (GRCh38)
17:1959784 (GRCh37)
Canonical SPDI:: NC_000017.11:2056489:C:G
Gene:: HIC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.2056490C>G, NC_000017.10:g.1959784C>G, NG_027689.1:g.6392C>G

Select item 148795345018.

rs1487953450 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:2056244 (GRCh38)
17:1959538 (GRCh37)
Canonical SPDI:: NC_000017.11:2056243:C:T
Gene:: HIC1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000017.11:g.2056244C>T, NC_000017.10:g.1959538C>T, NG_027689.1:g.6146C>T

Select item 148761991119.

rs1487619911 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:2057950 (GRCh38)
17:1961244 (GRCh37)
Canonical SPDI:: NC_000017.11:2057949:C:T
Gene:: HIC1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000047/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.2057950C>T, NC_000017.10:g.1961244C>T, NG_033980.1:g.250826G>A, NG_027689.1:g.7852C>T, NM_006497.4:c.1260C>T, NM_006497.3:c.1260C>T, NM_001098202.1:c.1317C>T

Select item 148761119120.

rs1487611191 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:2058370 (GRCh38)
17:1961664 (GRCh37)
Canonical SPDI:: NC_000017.11:2058369:G:A
Gene:: HIC1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000051/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.2058370G>A, NC_000017.10:g.1961664G>A, NG_033980.1:g.250406C>T, NG_027689.1:g.8272G>A, NM_006497.4:c.1680G>A, NM_006497.3:c.1680G>A, NM_001098202.1:c.1737G>A

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