SNP Links for Gene (Select 677813) - SNP

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Select item 14908276931.

rs1490827693 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:30710873 (GRCh38)
16:30722194 (GRCh37)
Canonical SPDI:: NC_000016.10:30710872:T:C
Gene:: SRCAP (Varview), SNORA30 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.30710873T>C, NC_000016.9:g.30722194T>C, NG_032135.1:g.16733T>C

Select item 14906899352.

rs1490689935 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:30709828 (GRCh38)
16:30721149 (GRCh37)
Canonical SPDI:: NC_000016.10:30709827:G:C
Gene:: SRCAP (Varview), SNORA30 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.30709828G>C, NC_000016.9:g.30721149G>C, NG_032135.1:g.15688G>C

Select item 14905399063.

rs1490539906 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:30709199 (GRCh38)
16:30720520 (GRCh37)
Canonical SPDI:: NC_000016.10:30709198:G:A
Gene:: SRCAP (Varview), SNORA30 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.30709199G>A, NC_000016.9:g.30720520G>A, NG_032135.1:g.15059G>A

Select item 14903329744.

rs1490332974 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 16:30710568 (GRCh38)
16:30721890 (GRCh37)
Canonical SPDI:: NC_000016.10:30710568:GGGG:GGGGG
Gene:: SRCAP (Varview), SNORA30 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.30710572dup, NC_000016.9:g.30721893dup, NG_032135.1:g.16432dup, NR_002966.1:n.36dup

Select item 14902594155.

rs1490259415 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 16:30709284 (GRCh38)
16:30720605 (GRCh37)
Canonical SPDI:: NC_000016.10:30709283:C:G,NC_000016.10:30709283:C:T
Gene:: SRCAP (Varview), SNORA30 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_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)
G=0.000342/1 (KOREAN)
HGVS:: NC_000016.10:g.30709284C>G, NC_000016.10:g.30709284C>T, NC_000016.9:g.30720605C>G, NC_000016.9:g.30720605C>T, NG_032135.1:g.15144C>G, NG_032135.1:g.15144C>T

Select item 14894706786.

rs1489470678 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:30711150 (GRCh38)
16:30722471 (GRCh37)
Canonical SPDI:: NC_000016.10:30711149:G:A
Gene:: SRCAP (Varview), SNORA30 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.30711150G>A, NC_000016.9:g.30722471G>A, NG_032135.1:g.17010G>A

Select item 14878380667.

rs1487838066 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:30710671 (GRCh38)
16:30721992 (GRCh37)
Canonical SPDI:: NC_000016.10:30710670:C:T
Gene:: SRCAP (Varview), SNORA30 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,intron_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_000016.10:g.30710671C>T, NC_000016.9:g.30721992C>T, NG_032135.1:g.16531C>T

Select item 14867105108.

rs1486710510 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TATTTTTA [Show Flanks]
Chromosome:: 16:30708566 (GRCh38)
16:30719888 (GRCh37)
Canonical SPDI:: NC_000016.10:30708566:TATTTTTA:TATTTTTATATTTTTA
Gene:: SRCAP (Varview), SNORA30 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATTTTTATATTTTTA=0./0 (ALFA)
TATTTTTA=0.000043/6 (GnomAD)
TATTTTTA=0.000425/7 (TOMMO)
TATTTTTA=0.001638/3 (Korea1K)
HGVS:: NC_000016.10:g.30708567_30708574dup, NC_000016.9:g.30719888_30719895dup, NG_032135.1:g.14427_14434dup

Select item 14809085329.

rs1480908532 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 16:30710333 (GRCh38)
16:30721654 (GRCh37)
Canonical SPDI:: NC_000016.10:30710332:G:T
Gene:: SRCAP (Varview), SNORA30 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_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_000016.10:g.30710333G>T, NC_000016.9:g.30721654G>T, NG_032135.1:g.16193G>T

Select item 148085735510.

rs1480857355 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:30710504 (GRCh38)
16:30721825 (GRCh37)
Canonical SPDI:: NC_000016.10:30710503:C:T
Gene:: SRCAP (Varview), SNORA30 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_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_000016.10:g.30710504C>T, NC_000016.9:g.30721825C>T, NG_032135.1:g.16364C>T

Select item 148077367911.

rs1480773679 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:30709277 (GRCh38)
16:30720598 (GRCh37)
Canonical SPDI:: NC_000016.10:30709276:A:G
Gene:: SRCAP (Varview), SNORA30 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.30709277A>G, NC_000016.9:g.30720598A>G, NG_032135.1:g.15137A>G

Select item 148071298012.

rs1480712980 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:30709720 (GRCh38)
16:30721041 (GRCh37)
Canonical SPDI:: NC_000016.10:30709719:C:T
Gene:: SRCAP (Varview), SNORA30 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (GnomAD)
T=0.000342/1 (KOREAN)
HGVS:: NC_000016.10:g.30709720C>T, NC_000016.9:g.30721041C>T, NG_032135.1:g.15580C>T, NM_006662.3:c.841C>T, NM_006662.2:c.841C>T, NP_006653.2:p.Arg281Cys

Select item 148065408213.

rs1480654082 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:30710818 (GRCh38)
16:30722139 (GRCh37)
Canonical SPDI:: NC_000016.10:30710817:A:G
Gene:: SRCAP (Varview), SNORA30 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.30710818A>G, NC_000016.9:g.30722139A>G, NG_032135.1:g.16678A>G, NM_006662.3:c.1199A>G, NM_006662.2:c.1199A>G, NP_006653.2:p.Asp400Gly

Select item 148035222914.

rs1480352229 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:30710515 (GRCh38)
16:30721836 (GRCh37)
Canonical SPDI:: NC_000016.10:30710514:G:A
Gene:: SRCAP (Varview), SNORA30 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
A=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000016.10:g.30710515G>A, NC_000016.9:g.30721836G>A, NG_032135.1:g.16375G>A

Select item 148016414115.

rs1480164141 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 16:30709395 (GRCh38)
16:30720716 (GRCh37)
Canonical SPDI:: NC_000016.10:30709394:T:A,NC_000016.10:30709394:T:C
Gene:: SRCAP (Varview), SNORA30 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000016.10:g.30709395T>A, NC_000016.10:g.30709395T>C, NC_000016.9:g.30720716T>A, NC_000016.9:g.30720716T>C, NG_032135.1:g.15255T>A, NG_032135.1:g.15255T>C

Select item 147620128116.

rs1476201281 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 16:30710525 (GRCh38)
16:30721846 (GRCh37)
Canonical SPDI:: NC_000016.10:30710524:T:G
Gene:: SRCAP (Varview), SNORA30 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.30710525T>G, NC_000016.9:g.30721846T>G, NG_032135.1:g.16385T>G

Select item 147596596017.

rs1475965960 [Homo sapiens]

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

Select item 147552992818.

rs1475529928 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:30708583 (GRCh38)
16:30719904 (GRCh37)
Canonical SPDI:: NC_000016.10:30708582:A:G
Gene:: SRCAP (Varview), SNORA30 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.30708583A>G, NC_000016.9:g.30719904A>G, NG_032135.1:g.14443A>G

Select item 147541410319.

rs1475414103 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:30708821 (GRCh38)
16:30720142 (GRCh37)
Canonical SPDI:: NC_000016.10:30708820:C:T
Gene:: SRCAP (Varview), SNORA30 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
T=0.001712/5 (KOREAN)
T=0.002183/4 (Korea1K)
T=0.002725/46 (TOMMO)
HGVS:: NC_000016.10:g.30708821C>T, NC_000016.9:g.30720142C>T, NG_032135.1:g.14681C>T

Select item 147490414520.

rs1474904145 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:30709293 (GRCh38)
16:30720614 (GRCh37)
Canonical SPDI:: NC_000016.10:30709292:A:G
Gene:: SRCAP (Varview), SNORA30 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000019/5 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000016.10:g.30709293A>G, NC_000016.9:g.30720614A>G, NG_032135.1:g.15153A>G

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