SNP Links for Gene (Select 653653) - SNP

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Select item 14908357631.

rs1490835763 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:60101906 (GRCh38)
17:58179267 (GRCh37)
Canonical SPDI:: NC_000017.11:60101905:T:C
Gene:: LOC653653 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.60101906T>C, NC_000017.10:g.58179267T>C, NR_027408.2:n.1014A>G, NR_027408.1:n.1014A>G

Select item 14895717652.

rs1489571765 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:60103347 (GRCh38)
17:58180708 (GRCh37)
Canonical SPDI:: NC_000017.11:60103346:C:A
Gene:: LOC653653 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.60103347C>A, NC_000017.10:g.58180708C>A

Select item 14895441443.

rs1489544144 has merged into rs1218210572 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA [Show Flanks]
Chromosome:: 17:60103965 (GRCh38)
17:58181326 (GRCh37)
Canonical SPDI:: NC_000017.11:60103964:AAAA:AAA,NC_000017.11:60103964:AAAA:AAAAA
Gene:: LOC653653 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.60103968del, NC_000017.11:g.60103968dup, NC_000017.10:g.58181329del, NC_000017.10:g.58181329dup

Select item 14893252794.

rs1489325279 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:60102679 (GRCh38)
17:58180040 (GRCh37)
Canonical SPDI:: NC_000017.11:60102678:G:A
Gene:: LOC653653 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.60102679G>A, NC_000017.10:g.58180040G>A, NR_027408.2:n.241C>T, NR_027408.1:n.241C>T

Select item 14886133065.

rs1488613306 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:60104789 (GRCh38)
17:58182150 (GRCh37)
Canonical SPDI:: NC_000017.11:60104788:G:A
Gene:: LOC653653 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000132/2 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.60104789G>A, NC_000017.10:g.58182150G>A

Select item 14885602616.

rs1488560261 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:60101497 (GRCh38)
17:58178858 (GRCh37)
Canonical SPDI:: NC_000017.11:60101496:G:A
Gene:: LOC653653 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.60101497G>A, NC_000017.10:g.58178858G>A

Select item 14879076587.

rs1487907658 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:60103447 (GRCh38)
17:58180808 (GRCh37)
Canonical SPDI:: NC_000017.11:60103446:C:T
Gene:: LOC653653 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000036/5 (GnomAD)
T=0.000042/11 (TOPMED)
HGVS:: NC_000017.11:g.60103447C>T, NC_000017.10:g.58180808C>T

Select item 14862945828.

rs1486294582 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 17:60102501 (GRCh38)
17:58179862 (GRCh37)
Canonical SPDI:: NC_000017.11:60102500:C:A,NC_000017.11:60102500:C:G
Gene:: LOC653653 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.60102501C>A, NC_000017.11:g.60102501C>G, NC_000017.10:g.58179862C>A, NC_000017.10:g.58179862C>G, NR_027408.2:n.419G>T, NR_027408.2:n.419G>C, NR_027408.1:n.419G>T, NR_027408.1:n.419G>C

Select item 14855185279.

rs1485518527 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:60104648 (GRCh38)
17:58182009 (GRCh37)
Canonical SPDI:: NC_000017.11:60104647:T:C
Gene:: LOC653653 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.60104648T>C, NC_000017.10:g.58182009T>C

Select item 148481487110.

rs1484814871 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:60101295 (GRCh38)
17:58178656 (GRCh37)
Canonical SPDI:: NC_000017.11:60101294:C:T
Gene:: LOC653653 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.60101295C>T, NC_000017.10:g.58178656C>T

Select item 148310185411.

rs1483101854 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:60102684 (GRCh38)
17:58180045 (GRCh37)
Canonical SPDI:: NC_000017.11:60102683:C:G,NC_000017.11:60102683:C:T
Gene:: LOC653653 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
T=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.60102684C>G, NC_000017.11:g.60102684C>T, NC_000017.10:g.58180045C>G, NC_000017.10:g.58180045C>T, NR_027408.2:n.236G>C, NR_027408.2:n.236G>A, NR_027408.1:n.236G>C, NR_027408.1:n.236G>A

Select item 148285859412.

rs1482858594 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:60104257 (GRCh38)
17:58181618 (GRCh37)
Canonical SPDI:: NC_000017.11:60104256:C:T
Gene:: LOC653653 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000021/3 (GnomAD)
T=0.000023/6 (TOPMED)
HGVS:: NC_000017.11:g.60104257C>T, NC_000017.10:g.58181618C>T

Select item 148253802313.

rs1482538023 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:60102813 (GRCh38)
17:58180174 (GRCh37)
Canonical SPDI:: NC_000017.11:60102812:T:C
Gene:: LOC653653 (Varview)
Functional Consequence:: non_coding_transcript_variant
HGVS:: NC_000017.11:g.60102813T>C, NC_000017.10:g.58180174T>C, NR_027408.2:n.107A>G, NR_027408.1:n.107A>G

Select item 148243011114.

rs1482430111 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AG [Show Flanks]
Chromosome:: 17:60102725 (GRCh38)
17:58180087 (GRCh37)
Canonical SPDI:: NC_000017.11:60102725:G:GAG
Gene:: LOC653653 (Varview)
Functional Consequence:: non_coding_transcript_variant
HGVS:: NC_000017.11:g.60102726_60102727insAG, NC_000017.10:g.58180087_58180088insAG, NR_027408.2:n.194_195insTC, NR_027408.1:n.194_195insTC

Select item 148211593315.

rs1482115933 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:60102385 (GRCh38)
17:58179746 (GRCh37)
Canonical SPDI:: NC_000017.11:60102384:T:C
Gene:: LOC653653 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.60102385T>C, NC_000017.10:g.58179746T>C, NR_027408.2:n.535A>G, NR_027408.1:n.535A>G

Select item 148130498816.

rs1481304988 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:60101578 (GRCh38)
17:58178939 (GRCh37)
Canonical SPDI:: NC_000017.11:60101577:A:C
Gene:: LOC653653 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000043/6 (GnomAD)
HGVS:: NC_000017.11:g.60101578A>C, NC_000017.10:g.58178939A>C

Select item 147914177917.

rs1479141779 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 17:60104494 (GRCh38)
17:58181855 (GRCh37)
Canonical SPDI:: NC_000017.11:60104493:AA:A
Gene:: LOC653653 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
-=0.000015/4 (TOPMED)
HGVS:: NC_000017.11:g.60104495del, NC_000017.10:g.58181856del

Select item 147909903018.

rs1479099030 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:60104846 (GRCh38)
17:58182207 (GRCh37)
Canonical SPDI:: NC_000017.11:60104845:C:T
Gene:: LOC653653 (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=0.000029/4 (GnomAD)
HGVS:: NC_000017.11:g.60104846C>T, NC_000017.10:g.58182207C>T

Select item 147822955819.

rs1478229558 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 17:60104623 (GRCh38)
17:58181984 (GRCh37)
Canonical SPDI:: NC_000017.11:60104622:T:A,NC_000017.11:60104622:T:C
Gene:: LOC653653 (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)
HGVS:: NC_000017.11:g.60104623T>A, NC_000017.11:g.60104623T>C, NC_000017.10:g.58181984T>A, NC_000017.10:g.58181984T>C

Select item 147779923520.

rs1477799235 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:60102287 (GRCh38)
17:58179648 (GRCh37)
Canonical SPDI:: NC_000017.11:60102286:A:G
Gene:: LOC653653 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.60102287A>G, NC_000017.10:g.58179648A>G, NR_027408.2:n.633T>C, NR_027408.1:n.633T>C

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