SNP Links for Gene (Select 3010) - SNP

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Select item 14914812151.

rs1491481215 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 6:26107828 (GRCh38)
6:26108056 (GRCh37)
Canonical SPDI:: NC_000006.12:26107827:TT:
Gene:: H1-6 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
-=0.000035/1 (TOMMO)
-=0.00008/1 (GoESP)
HGVS:: NC_000006.12:g.26107828_26107829del, NC_000006.11:g.26108056_26108057del, NM_005323.4:c.265_266del, NM_005323.3:c.265_266del, NP_005314.2:p.Lys89fs

Select item 14892517202.

rs1489251720 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 6:26107674 (GRCh38)
6:26107902 (GRCh37)
Canonical SPDI:: NC_000006.12:26107673:G:A,NC_000006.12:26107673:G:C
Gene:: H1-6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000029/4 (GnomAD)
HGVS:: NC_000006.12:g.26107674G>A, NC_000006.12:g.26107674G>C, NC_000006.11:g.26107902G>A, NC_000006.11:g.26107902G>C, NM_005323.4:c.420C>T, NM_005323.4:c.420C>G, NM_005323.3:c.420C>T, NM_005323.3:c.420C>G, NP_005314.2:p.Asp140Glu

Select item 14888952653.

rs1488895265 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:26108616 (GRCh38)
6:26108844 (GRCh37)
Canonical SPDI:: NC_000006.12:26108615:G:A
Gene:: H1-6 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000034/9 (TOPMED)
A=0.00005/7 (GnomAD)
HGVS:: NC_000006.12:g.26108616G>A, NC_000006.11:g.26108844G>A

Select item 14885480084.

rs1488548008 [Homo sapiens]

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

Select item 14864980495.

rs1486498049 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:26109626 (GRCh38)
6:26109854 (GRCh37)
Canonical SPDI:: NC_000006.12:26109625:C:T
Gene:: H1-6 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_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_000006.12:g.26109626C>T, NC_000006.11:g.26109854C>T

Select item 14862707746.

rs1486270774 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:26107178 (GRCh38)
6:26107406 (GRCh37)
Canonical SPDI:: NC_000006.12:26107177:G:A
Gene:: H1-6 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.26107178G>A, NC_000006.11:g.26107406G>A

Select item 14852165197.

rs1485216519 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:26107182 (GRCh38)
6:26107410 (GRCh37)
Canonical SPDI:: NC_000006.12:26107181:C:G
Gene:: H1-6 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.26107182C>G, NC_000006.11:g.26107410C>G

Select item 14849781608.

rs1484978160 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:26108694 (GRCh38)
6:26108922 (GRCh37)
Canonical SPDI:: NC_000006.12:26108693:A:G
Gene:: H1-6 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: G=0.00004/1 (TOMMO)
HGVS:: NC_000006.12:g.26108694A>G, NC_000006.11:g.26108922A>G

Select item 14813563149.

rs1481356314 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:26109730 (GRCh38)
6:26109958 (GRCh37)
Canonical SPDI:: NC_000006.12:26109729:G:A
Gene:: H1-6 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.26109730G>A, NC_000006.11:g.26109958G>A

Select item 148081742810.

rs1480817428 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:26107022 (GRCh38)
6:26107250 (GRCh37)
Canonical SPDI:: NC_000006.12:26107021:A:C
Gene:: H1-6 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_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_000006.12:g.26107022A>C, NC_000006.11:g.26107250A>C

Select item 147826688411.

rs1478266884 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:26110023 (GRCh38)
6:26110251 (GRCh37)
Canonical SPDI:: NC_000006.12:26110022:C:T
Gene:: H1-6 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_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_000006.12:g.26110023C>T, NC_000006.11:g.26110251C>T

Select item 147820874612.

rs1478208746 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:26108060 (GRCh38)
6:26108288 (GRCh37)
Canonical SPDI:: NC_000006.12:26108059:C:T
Gene:: H1-6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.26108060C>T, NC_000006.11:g.26108288C>T, NM_005323.4:c.34G>A, NM_005323.3:c.34G>A, NP_005314.2:p.Ala12Thr

Select item 147818967313.

rs1478189673 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:26109845 (GRCh38)
6:26110073 (GRCh37)
Canonical SPDI:: NC_000006.12:26109844:G:C
Gene:: H1-6 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000071/10 (GnomAD)
HGVS:: NC_000006.12:g.26109845G>C, NC_000006.11:g.26110073G>C

Select item 147712683414.

rs1477126834 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:26107497 (GRCh38)
6:26107725 (GRCh37)
Canonical SPDI:: NC_000006.12:26107496:A:G
Gene:: H1-6 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000015/4 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000006.12:g.26107497A>G, NC_000006.11:g.26107725A>G, NM_005323.4:c.597T>C, NM_005323.3:c.597T>C

Select item 147692186615.

rs1476921866 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:26109681 (GRCh38)
6:26109909 (GRCh37)
Canonical SPDI:: NC_000006.12:26109680:G:A
Gene:: H1-6 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000132/2 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000021/3 (GnomAD)
A=0.000446/2 (Estonian)
HGVS:: NC_000006.12:g.26109681G>A, NC_000006.11:g.26109909G>A

Select item 147616425316.

rs1476164253 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:26109326 (GRCh38)
6:26109554 (GRCh37)
Canonical SPDI:: NC_000006.12:26109325:T:C
Gene:: H1-6 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.26109326T>C, NC_000006.11:g.26109554T>C

Select item 147513588817.

rs1475135888 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GGA [Show Flanks]
Chromosome:: 6:26108756 (GRCh38)
6:26108985 (GRCh37)
Canonical SPDI:: NC_000006.12:26108756:GAGGA:GAGGAGGA
Gene:: H1-6 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GAGGAGGA=0./0 (ALFA)
GAG=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.26108759_26108761dup, NC_000006.11:g.26108987_26108989dup

Select item 147498544318.

rs1474985443 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:26109076 (GRCh38)
6:26109304 (GRCh37)
Canonical SPDI:: NC_000006.12:26109075:G:A
Gene:: H1-6 (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=0.000007/1 (GnomAD)
A=0.000212/4 (TOMMO)
HGVS:: NC_000006.12:g.26109076G>A, NC_000006.11:g.26109304G>A

Select item 147486460919.

rs1474864609 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:26107088 (GRCh38)
6:26107316 (GRCh37)
Canonical SPDI:: NC_000006.12:26107087:G:A
Gene:: H1-6 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.26107088G>A, NC_000006.11:g.26107316G>A

Select item 147375651520.

rs1473756515 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 6:26107354 (GRCh38)
6:26107582 (GRCh37)
Canonical SPDI:: NC_000006.12:26107353:A:T
Gene:: H1-6 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000006.12:g.26107354A>T, NC_000006.11:g.26107582A>T

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