SNP Links for Nucleotide (Select 91680831) - SNP

Links from Nucleotide

Items: 1 to 20 of 41

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Select item 14903329741.

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 14740821882.

rs1474082188 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:30710648 (GRCh38)
16:30721969 (GRCh37)
Canonical SPDI:: NC_000016.10:30710647:T:C
Gene:: SRCAP (Varview), SNORA30 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000016.10:g.30710648T>C, NC_000016.9:g.30721969T>C, NG_032135.1:g.16508T>C, NR_002966.1:n.112T>C

Select item 14479064283.

rs1447906428 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 16:30710577 (GRCh38)
16:30721898 (GRCh37)
Canonical SPDI:: NC_000016.10:30710576:G:A,NC_000016.10:30710576:G:T
Gene:: SRCAP (Varview), SNORA30 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.30710577G>A, NC_000016.10:g.30710577G>T, NC_000016.9:g.30721898G>A, NC_000016.9:g.30721898G>T, NG_032135.1:g.16437G>A, NG_032135.1:g.16437G>T, NR_002966.1:n.41G>A, NR_002966.1:n.41G>T

Select item 14472191084.

rs1447219108 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:30710600 (GRCh38)
16:30721921 (GRCh37)
Canonical SPDI:: NC_000016.10:30710599:A:G
Gene:: SRCAP (Varview), SNORA30 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.30710600A>G, NC_000016.9:g.30721921A>G, NG_032135.1:g.16460A>G, NR_002966.1:n.64A>G

Select item 14239707495.

rs1423970749 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:30710608 (GRCh38)
16:30721929 (GRCh37)
Canonical SPDI:: NC_000016.10:30710607:T:C
Gene:: SRCAP (Varview), SNORA30 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.30710608T>C, NC_000016.9:g.30721929T>C, NG_032135.1:g.16468T>C, NR_002966.1:n.72T>C

Select item 13825609416.

rs1382560941 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 16:30710632 (GRCh38)
16:30721953 (GRCh37)
Canonical SPDI:: NC_000016.10:30710631:A:T
Gene:: SRCAP (Varview), SNORA30 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.30710632A>T, NC_000016.9:g.30721953A>T, NG_032135.1:g.16492A>T, NR_002966.1:n.96A>T

Select item 13801332197.

rs1380133219 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 16:30710641 (GRCh38)
16:30721962 (GRCh37)
Canonical SPDI:: NC_000016.10:30710640:G:A,NC_000016.10:30710640:G:T
Gene:: SRCAP (Varview), SNORA30 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.30710641G>A, NC_000016.10:g.30710641G>T, NC_000016.9:g.30721962G>A, NC_000016.9:g.30721962G>T, NG_032135.1:g.16501G>A, NG_032135.1:g.16501G>T, NR_002966.1:n.105G>A, NR_002966.1:n.105G>T

Select item 13661230708.

rs1366123070 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:30710542 (GRCh38)
16:30721863 (GRCh37)
Canonical SPDI:: NC_000016.10:30710541:A:G
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.30710542A>G, NC_000016.9:g.30721863A>G, NG_032135.1:g.16402A>G, NR_002966.1:n.6A>G

Select item 13423146999.

rs1342314699 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:30710598 (GRCh38)
16:30721919 (GRCh37)
Canonical SPDI:: NC_000016.10:30710597:A:G
Gene:: SRCAP (Varview), SNORA30 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.30710598A>G, NC_000016.9:g.30721919A>G, NG_032135.1:g.16458A>G, NR_002966.1:n.62A>G

Select item 133759772510.

rs1337597725 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 16:30710559 (GRCh38)
16:30721880 (GRCh37)
Canonical SPDI:: NC_000016.10:30710558:C:A,NC_000016.10:30710558:C:T
Gene:: SRCAP (Varview), SNORA30 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.30710559C>A, NC_000016.10:g.30710559C>T, NC_000016.9:g.30721880C>A, NC_000016.9:g.30721880C>T, NG_032135.1:g.16419C>A, NG_032135.1:g.16419C>T, NR_002966.1:n.23C>A, NR_002966.1:n.23C>T

Select item 133233250611.

rs1332332506 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A [Show Flanks]
Chromosome:: 16:30710602 (GRCh38)
16:30721923 (GRCh37)
Canonical SPDI:: NC_000016.10:30710599:AAAA:AA,NC_000016.10:30710599:AAAA:AAA
Gene:: SRCAP (Varview), SNORA30 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAA=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.30710602_30710603del, NC_000016.10:g.30710603del, NC_000016.9:g.30721923_30721924del, NC_000016.9:g.30721924del, NG_032135.1:g.16462_16463del, NG_032135.1:g.16463del, NR_002966.1:n.66_67del, NR_002966.1:n.67del

Select item 132793953112.

rs1327939531 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:30710550 (GRCh38)
16:30721871 (GRCh37)
Canonical SPDI:: NC_000016.10:30710549:A:G
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.30710550A>G, NC_000016.9:g.30721871A>G, NG_032135.1:g.16410A>G, NR_002966.1:n.14A>G

Select item 131584583613.

rs1315845836 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:30710649 (GRCh38)
16:30721970 (GRCh37)
Canonical SPDI:: NC_000016.10:30710648:C:T
Gene:: SRCAP (Varview), SNORA30 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.30710649C>T, NC_000016.9:g.30721970C>T, NG_032135.1:g.16509C>T, NR_002966.1:n.113C>T

Select item 131563095114.

rs1315630951 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 16:30710565 (GRCh38)
16:30721886 (GRCh37)
Canonical SPDI:: NC_000016.10:30710564:C:A
Gene:: SRCAP (Varview), SNORA30 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.30710565C>A, NC_000016.9:g.30721886C>A, NG_032135.1:g.16425C>A, NR_002966.1:n.29C>A

Select item 129168398915.

rs1291683989 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 16:30710617 (GRCh38)
16:30721938 (GRCh37)
Canonical SPDI:: NC_000016.10:30710616:T:G
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.30710617T>G, NC_000016.9:g.30721938T>G, NG_032135.1:g.16477T>G, NR_002966.1:n.81T>G

Select item 126980509816.

rs1269805098 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:30710555 (GRCh38)
16:30721876 (GRCh37)
Canonical SPDI:: NC_000016.10:30710554:C:T
Gene:: SRCAP (Varview), SNORA30 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.30710555C>T, NC_000016.9:g.30721876C>T, NG_032135.1:g.16415C>T, NR_002966.1:n.19C>T

Select item 126433236717.

rs1264332367 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:30710575 (GRCh38)
16:30721896 (GRCh37)
Canonical SPDI:: NC_000016.10:30710574:A:G
Gene:: SRCAP (Varview), SNORA30 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.30710575A>G, NC_000016.9:g.30721896A>G, NG_032135.1:g.16435A>G, NR_002966.1:n.39A>G

Select item 119351051018.

rs1193510510 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:30710594 (GRCh38)
16:30721915 (GRCh37)
Canonical SPDI:: NC_000016.10:30710593:T:C
Gene:: SRCAP (Varview), SNORA30 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.30710594T>C, NC_000016.9:g.30721915T>C, NG_032135.1:g.16454T>C, NR_002966.1:n.58T>C

Select item 102122854519.

rs1021228545 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:30710622 (GRCh38)
16:30721943 (GRCh37)
Canonical SPDI:: NC_000016.10:30710621:C:T
Gene:: SRCAP (Varview), SNORA30 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
HGVS:: NC_000016.10:g.30710622C>T, NC_000016.9:g.30721943C>T, NG_032135.1:g.16482C>T, NR_002966.1:n.86C>T

Select item 94613194120.

rs946131941 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:30710560 (GRCh38)
16:30721881 (GRCh37)
Canonical SPDI:: NC_000016.10:30710559:C:T
Gene:: SRCAP (Varview), SNORA30 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000014/2 (GnomAD)
T=0.00003/8 (TOPMED)
HGVS:: NC_000016.10:g.30710560C>T, NC_000016.9:g.30721881C>T, NG_032135.1:g.16420C>T, NR_002966.1:n.24C>T

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