SNP Links for Gene (Select 6181) - SNP

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Select item 14913849991.

rs1491384999 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 11:811005 (GRCh38)
11:811006 (GRCh37)
Canonical SPDI:: NC_000011.10:811005:A:AA
Gene:: RPLP2 (Varview), PIDD1 (Varview), SNORA52 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
A=0.00001/1 (GnomAD)
HGVS:: NC_000011.10:g.811006dup, NC_000011.9:g.811006dup

Select item 14912130012.

rs1491213001 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 11:811007 (GRCh38)
11:811007 (GRCh37)
Canonical SPDI:: NC_000011.10:811004:CACA:CA
Gene:: RPLP2 (Varview), PIDD1 (Varview), SNORA52 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACA=0.00008/1 (ALFA)
-=0.00039/6 (TOMMO)
HGVS:: NC_000011.10:g.811005CA[1], NC_000011.9:g.811005CA[1]

Select item 14911119093.

rs1491111909 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 11:808126 (GRCh38)
11:808126 (GRCh37)
Canonical SPDI:: NC_000011.10:808124:ATA:A
Gene:: RPLP2 (Varview), PIDD1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000027/2 (GnomAD)
HGVS:: NC_000011.10:g.808126_808127del, NC_000011.9:g.808126_808127del

Select item 14909323244.

rs1490932324 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 11:812746 (GRCh38)
11:812746 (GRCh37)
Canonical SPDI:: NC_000011.10:812745:C:G,NC_000011.10:812745:C:T
Gene:: RPLP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000032/8 (GnomAD_exomes)
T=0.000033/4 (ExAC)
T=0.000036/5 (GnomAD)
HGVS:: NC_000011.10:g.812746C>G, NC_000011.10:g.812746C>T, NC_000011.9:g.812746C>G, NC_000011.9:g.812746C>T

Select item 14907541445.

rs1490754144 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 11:811010 (GRCh38)
11:811010 (GRCh37)
Canonical SPDI:: NC_000011.10:811009:A:C,NC_000011.10:811009:A:G
Gene:: RPLP2 (Varview), PIDD1 (Varview), SNORA52 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
G=0.000024/3 (GnomAD)
HGVS:: NC_000011.10:g.811010A>C, NC_000011.10:g.811010A>G, NC_000011.9:g.811010A>C, NC_000011.9:g.811010A>G

Select item 14907182726.

rs1490718272 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 11:810548 (GRCh38)
11:810548 (GRCh37)
Canonical SPDI:: NC_000011.10:810547:C:G,NC_000011.10:810547:C:T
Gene:: RPLP2 (Varview), PIDD1 (Varview), SNORA52 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.810548C>G, NC_000011.10:g.810548C>T, NC_000011.9:g.810548C>G, NC_000011.9:g.810548C>T

Select item 14902282237.

rs1490228223 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 11:810812 (GRCh38)
11:810812 (GRCh37)
Canonical SPDI:: NC_000011.10:810811:G:C,NC_000011.10:810811:G:T
Gene:: RPLP2 (Varview), PIDD1 (Varview), SNORA52 (Varview)
Functional Consequence:: intron_variant,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_000011.10:g.810812G>C, NC_000011.10:g.810812G>T, NC_000011.9:g.810812G>C, NC_000011.9:g.810812G>T

Select item 14900952028.

rs1490095202 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:811556 (GRCh38)
11:811556 (GRCh37)
Canonical SPDI:: NC_000011.10:811555:T:C
Gene:: RPLP2 (Varview), SNORA52 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.811556T>C, NC_000011.9:g.811556T>C

Select item 14888087909.

rs1488808790 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 11:809170 (GRCh38)
11:809170 (GRCh37)
Canonical SPDI:: NC_000011.10:809169:G:A,NC_000011.10:809169:G:T
Gene:: RPLP2 (Varview), PIDD1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.809170G>A, NC_000011.10:g.809170G>T, NC_000011.9:g.809170G>A, NC_000011.9:g.809170G>T, XM_011520209.4:c.-218C>T, XM_011520209.4:c.-218C>A, XM_011520209.3:c.-218C>T, XM_011520209.3:c.-218C>A, XM_011520209.2:c.-218C>T, XM_011520209.2:c.-218C>A, XM_011520209.1:c.-218C>T, XM_011520209.1:c.-218C>A, XM_047427238.1:c.-218C>T, XM_047427238.1:c.-218C>A, XM_047427239.1:c.-218C>T, XM_047427239.1:c.-218C>A, XM_047427240.1:c.-218C>T, XM_047427240.1:c.-218C>A, XM_047427244.1:c.-218C>T, XM_047427244.1:c.-218C>A

Select item 148873558810.

rs1488735588 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 11:809754 (GRCh38)
11:809754 (GRCh37)
Canonical SPDI:: NC_000011.10:809753:A:G,NC_000011.10:809753:A:T
Gene:: RPLP2 (Varview), PIDD1 (Varview), SNORA52 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000011.10:g.809754A>G, NC_000011.10:g.809754A>T, NC_000011.9:g.809754A>G, NC_000011.9:g.809754A>T

Select item 148739893811.

rs1487398938 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 11:813364 (GRCh38)
11:813364 (GRCh37)
Canonical SPDI:: NC_000011.10:813363:T:A
Gene:: RPLP2 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: A=0.00008/1 (ALFA)
HGVS:: NC_000011.10:g.813364T>A, NC_000011.9:g.813364T>A

Select item 148733193212.

rs1487331932 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 11:810476 (GRCh38)
11:810476 (GRCh37)
Canonical SPDI:: NC_000011.10:810475:T:A
Gene:: RPLP2 (Varview), PIDD1 (Varview), SNORA52 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.810476T>A, NC_000011.9:g.810476T>A

Select item 148649832013.

rs1486498320 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 11:808453 (GRCh38)
11:808453 (GRCh37)
Canonical SPDI:: NC_000011.10:808452:G:A,NC_000011.10:808452:G:T
Gene:: RPLP2 (Varview), PIDD1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.808453G>A, NC_000011.10:g.808453G>T, NC_000011.9:g.808453G>A, NC_000011.9:g.808453G>T

Select item 148557214014.

rs1485572140 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:808054 (GRCh38)
11:808054 (GRCh37)
Canonical SPDI:: NC_000011.10:808053:T:C
Gene:: RPLP2 (Varview), PIDD1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_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_000011.10:g.808054T>C, NC_000011.9:g.808054T>C

Select item 148554098415.

rs1485540984 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:808787 (GRCh38)
11:808787 (GRCh37)
Canonical SPDI:: NC_000011.10:808786:G:A
Gene:: RPLP2 (Varview), PIDD1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.808787G>A, NC_000011.9:g.808787G>A

Select item 148536773116.

rs1485367731 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:810990 (GRCh38)
11:810990 (GRCh37)
Canonical SPDI:: NC_000011.10:810989:G:A
Gene:: RPLP2 (Varview), PIDD1 (Varview), SNORA52 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000011.10:g.810990G>A, NC_000011.9:g.810990G>A

Select item 148521477417.

rs1485214774 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:808311 (GRCh38)
11:808311 (GRCh37)
Canonical SPDI:: NC_000011.10:808310:C:T
Gene:: RPLP2 (Varview), PIDD1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.808311C>T, NC_000011.9:g.808311C>T

Select item 148456072018.

rs1484560720 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TCCA [Show Flanks]
Chromosome:: 11:809189 (GRCh38)
11:809190 (GRCh37)
Canonical SPDI:: NC_000011.10:809189:TCCA:TCCATCCA
Gene:: RPLP2 (Varview), PIDD1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCCATCCA=0.000084/1 (ALFA)
TCCA=0.000271/38 (GnomAD)
TCCA=0.000468/3 (1000Genomes)
HGVS:: NC_000011.10:g.809190_809193dup, NC_000011.9:g.809190_809193dup, XM_011520209.4:c.-241_-238dup, XM_011520209.3:c.-241_-238dup, XM_011520209.2:c.-241_-238dup, XM_011520209.1:c.-241_-238dup, XM_047427238.1:c.-241_-238dup, XM_047427239.1:c.-241_-238dup, XM_047427240.1:c.-241_-238dup, XM_047427244.1:c.-241_-238dup

Select item 148359985219.

rs1483599852 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 11:809870 (GRCh38)
11:809870 (GRCh37)
Canonical SPDI:: NC_000011.10:809869:C:G,NC_000011.10:809869:C:T
Gene:: RPLP2 (Varview), PIDD1 (Varview), SNORA52 (Varview)
Functional Consequence:: upstream_transcript_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)
G=0.000156/1 (1000Genomes)
HGVS:: NC_000011.10:g.809870C>G, NC_000011.10:g.809870C>T, NC_000011.9:g.809870C>G, NC_000011.9:g.809870C>T

Select item 148339412520.

rs1483394125 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:811553 (GRCh38)
11:811553 (GRCh37)
Canonical SPDI:: NC_000011.10:811552:C:T
Gene:: RPLP2 (Varview), SNORA52 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.811553C>T, NC_000011.9:g.811553C>T