SNP Links for Gene (Select 51294) - SNP

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Select item 14914559811.

rs1491455981 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 5:141952332 (GRCh38)
5:141331897 (GRCh37)
Canonical SPDI:: NC_000005.10:141952331:AG:
Gene:: RNF14 (Varview), PCDH12 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000071/1 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000043/6 (GnomAD)
HGVS:: NC_000005.10:g.141952332_141952333del, NC_000005.9:g.141331897_141331898del

Select item 14912379562.

rs1491237956 has merged into rs5871796 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA,AAAAAA [Show Flanks]
Chromosome:: 5:141949062 (GRCh38)
5:141328627 (GRCh37)
Canonical SPDI:: NC_000005.10:141949049:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:141949049:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:141949049:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:141949049:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:141949049:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:141949049:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
Gene:: RNF14 (Varview), PCDH12 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
A=0.1414/708 (1000Genomes)
HGVS:: NC_000005.10:g.141949062_141949064del, NC_000005.10:g.141949063_141949064del, NC_000005.10:g.141949064del, NC_000005.10:g.141949064dup, NC_000005.10:g.141949063_141949064dup, NC_000005.10:g.141949062_141949064dup, NC_000005.9:g.141328627_141328629del, NC_000005.9:g.141328628_141328629del, NC_000005.9:g.141328629del, NC_000005.9:g.141328629dup, NC_000005.9:g.141328628_141328629dup, NC_000005.9:g.141328627_141328629dup

Select item 14912226143.

rs1491222614 has merged into rs5871795 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA [Show Flanks]
Chromosome:: 5:141946915 (GRCh38)
5:141326480 (GRCh37)
Canonical SPDI:: NC_000005.10:141946903:AAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:141946903:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:141946903:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:141946903:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:141946903:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:141946903:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:141946903:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
Gene:: PCDH12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.1891/947 (1000Genomes)
HGVS:: NC_000005.10:g.141946915_141946919del, NC_000005.10:g.141946916_141946919del, NC_000005.10:g.141946917_141946919del, NC_000005.10:g.141946918_141946919del, NC_000005.10:g.141946919del, NC_000005.10:g.141946919dup, NC_000005.10:g.141946918_141946919dup, NC_000005.9:g.141326480_141326484del, NC_000005.9:g.141326481_141326484del, NC_000005.9:g.141326482_141326484del, NC_000005.9:g.141326483_141326484del, NC_000005.9:g.141326484del, NC_000005.9:g.141326484dup, NC_000005.9:g.141326483_141326484dup

Select item 14912199864.

rs1491219986 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 5:141946903 (GRCh38)
5:141326468 (GRCh37)
Canonical SPDI:: NC_000005.10:141946902:TA:
Gene:: PCDH12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00001/1 (GnomAD)
-=0.00031/2 (1000Genomes)
HGVS:: NC_000005.10:g.141946903_141946904del, NC_000005.9:g.141326468_141326469del

Select item 14911716695.

rs1491171669 has merged into rs1334980733 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>-,GG [Show Flanks]
Chromosome:: 5:141952333 (GRCh38)
5:141331898 (GRCh37)
Canonical SPDI:: NC_000005.10:141952332:GGGGGG:GGGGG,NC_000005.10:141952332:GGGGGG:GGGGGGG
Gene:: RNF14 (Varview), PCDH12 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGG=0./0 (ALFA)
-=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.141952338del, NC_000005.10:g.141952338dup, NC_000005.9:g.141331903del, NC_000005.9:g.141331903dup

Select item 14907696966.

rs1490769696 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 5:141945805 (GRCh38)
5:141325370 (GRCh37)
Canonical SPDI:: NC_000005.10:141945804:C:G
Gene:: PCDH12 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000005.10:g.141945805C>G, NC_000005.9:g.141325370C>G, NM_016580.4:c.3131G>C, NM_016580.3:c.3131G>C, NP_057664.1:p.Gly1044Ala

Select item 14901221967.

rs1490122196 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:141949382 (GRCh38)
5:141328947 (GRCh37)
Canonical SPDI:: NC_000005.10:141949381:G:A
Gene:: RNF14 (Varview), PCDH12 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.141949382G>A, NC_000005.9:g.141328947G>A, XM_047417904.1:c.-209G>A, XM_047417908.1:c.-209G>A

Select item 14899530068.

rs1489953006 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 5:141945469 (GRCh38)
5:141325034 (GRCh37)
Canonical SPDI:: NC_000005.10:141945468:G:A,NC_000005.10:141945468:G:C
Gene:: PCDH12 (Varview)
Functional Consequence:: stop_gained,missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.141945469G>A, NC_000005.10:g.141945469G>C, NC_000005.9:g.141325034G>A, NC_000005.9:g.141325034G>C, NM_016580.4:c.3467C>T, NM_016580.4:c.3467C>G, NM_016580.3:c.3467C>T, NM_016580.3:c.3467C>G, NP_057664.1:p.Ser1156Leu, NP_057664.1:p.Ser1156Ter

Select item 14894645629.

rs1489464562 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:141952882 (GRCh38)
5:141332447 (GRCh37)
Canonical SPDI:: NC_000005.10:141952881:G:T
Gene:: RNF14 (Varview), PCDH12 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.141952882G>T, NC_000005.9:g.141332447G>T

Select item 148943763210.

rs1489437632 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 5:141943910 (GRCh38)
5:141323475 (GRCh37)
Canonical SPDI:: NC_000005.10:141943909:G:A,NC_000005.10:141943909:G:C
Gene:: PCDH12 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000005.10:g.141943910G>A, NC_000005.10:g.141943910G>C, NC_000005.9:g.141323475G>A, NC_000005.9:g.141323475G>C, NM_016580.4:c.*1471C>T, NM_016580.4:c.*1471C>G, NM_016580.3:c.*1471C>T, NM_016580.3:c.*1471C>G

Select item 148940205711.

rs1489402057 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:141945071 (GRCh38)
5:141324636 (GRCh37)
Canonical SPDI:: NC_000005.10:141945070:G:T
Gene:: PCDH12 (Varview)
Functional Consequence:: 3_prime_UTR_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_000005.10:g.141945071G>T, NC_000005.9:g.141324636G>T, NM_016580.4:c.*310C>A, NM_016580.3:c.*310C>A

Select item 148821183312.

rs1488211833 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 5:141946792 (GRCh38)
5:141326357 (GRCh37)
Canonical SPDI:: NC_000005.10:141946791:T:A
Gene:: PCDH12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000005.10:g.141946792T>A, NC_000005.9:g.141326357T>A

Select item 148820837013.

rs1488208370 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:141955943 (GRCh38)
5:141335508 (GRCh37)
Canonical SPDI:: NC_000005.10:141955942:T:C
Gene:: RNF14 (Varview), PCDH12 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.141955943T>C, NC_000005.9:g.141335508T>C, NM_016580.4:c.1909A>G, NM_016580.3:c.1909A>G, NP_057664.1:p.Ser637Gly

Select item 148819184814.

rs1488191848 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:141943890 (GRCh38)
5:141323455 (GRCh37)
Canonical SPDI:: NC_000005.10:141943889:G:A
Gene:: PCDH12 (Varview)
Functional Consequence:: 3_prime_UTR_variant
HGVS:: NC_000005.10:g.141943890G>A, NC_000005.9:g.141323455G>A, NM_016580.4:c.*1491C>T, NM_016580.3:c.*1491C>T

Select item 148791195015.

rs1487911950 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:141947143 (GRCh38)
5:141326708 (GRCh37)
Canonical SPDI:: NC_000005.10:141947142:A:G
Gene:: PCDH12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.141947143A>G, NC_000005.9:g.141326708A>G

Select item 148783101316.

rs1487831013 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 5:141944221 (GRCh38)
5:141323786 (GRCh37)
Canonical SPDI:: NC_000005.10:141944220:A:C
Gene:: PCDH12 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.141944221A>C, NC_000005.9:g.141323786A>C, NM_016580.4:c.*1160T>G, NM_016580.3:c.*1160T>G

Select item 148757394117.

rs1487573941 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:141955632 (GRCh38)
5:141335197 (GRCh37)
Canonical SPDI:: NC_000005.10:141955631:G:A
Gene:: RNF14 (Varview), PCDH12 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.141955632G>A, NC_000005.9:g.141335197G>A, NM_016580.4:c.2220C>T, NM_016580.3:c.2220C>T

Select item 148725361118.

rs1487253611 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:141952579 (GRCh38)
5:141332144 (GRCh37)
Canonical SPDI:: NC_000005.10:141952578:G:A
Gene:: RNF14 (Varview), PCDH12 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000023/6 (TOPMED)
HGVS:: NC_000005.10:g.141952579G>A, NC_000005.9:g.141332144G>A

Select item 148701307119.

rs1487013071 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:141960930 (GRCh38)
5:141340495 (GRCh37)
Canonical SPDI:: NC_000005.10:141960929:C:T
Gene:: RNF14 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000224/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000005.10:g.141960930C>T, NC_000005.9:g.141340495C>T

Select item 148641199920.

rs1486411999 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:141955403 (GRCh38)
5:141334968 (GRCh37)
Canonical SPDI:: NC_000005.10:141955402:G:A
Gene:: RNF14 (Varview), PCDH12 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000005.10:g.141955403G>A, NC_000005.9:g.141334968G>A, NM_016580.4:c.2449C>T, NM_016580.3:c.2449C>T, NP_057664.1:p.His817Tyr

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