SNP Links for Nucleotide (Select 374717344) - SNP

Links from Nucleotide

Items: 1 to 20 of 165

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Select item 14877972921.

rs1487797292 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:67295674 (GRCh38)
7:66760661 (GRCh37)
Canonical SPDI:: NC_000007.14:67295673:G:A
Gene:: PMS2P4 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.67295674G>A, NC_000007.13:g.66760661G>A, NR_022007.2:n.422C>T, NR_046297.1:n.422C>T, NR_046299.1:n.422C>T

Select item 14829483572.

rs1482948357 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:67292531 (GRCh38)
7:66757518 (GRCh37)
Canonical SPDI:: NC_000007.14:67292530:G:A
Gene:: PMS2P4 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (GnomAD)
A=0.000034/9 (TOPMED)
HGVS:: NC_000007.14:g.67292531G>A, NC_000007.13:g.66757518G>A, NR_022007.2:n.497C>T, NR_046297.1:n.497C>T, NR_046299.1:n.497C>T

Select item 14712337663.

rs1471233766 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:67287566 (GRCh38)
7:66752553 (GRCh37)
Canonical SPDI:: NC_000007.14:67287565:A:G
Gene:: PMS2P4 (Varview), SPDYE21 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.67287566A>G, NC_000007.13:g.66752553A>G, NM_001382715.2:c.*94A>G, NM_001382715.1:c.*94A>G, NR_046297.1:n.719T>C

Select item 14704051314.

rs1470405131 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:67299379 (GRCh38)
7:66764366 (GRCh37)
Canonical SPDI:: NC_000007.14:67299378:G:C
Gene:: PMS2P4 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.67299379G>C, NC_000007.13:g.66764366G>C, NR_022007.2:n.113C>G, NR_046297.1:n.113C>G, NR_046299.1:n.113C>G

Select item 14670746155.

rs1467074615 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:67287646 (GRCh38)
7:66752633 (GRCh37)
Canonical SPDI:: NC_000007.14:67287645:G:A
Gene:: PMS2P4 (Varview), SPDYE21 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000007.14:g.67287646G>A, NC_000007.13:g.66752633G>A, NM_001382715.2:c.*174G>A, NM_001382715.1:c.*174G>A, NR_046297.1:n.639C>T

Select item 14617905836.

rs1461790583 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 7:67295623 (GRCh38)
7:66760610 (GRCh37)
Canonical SPDI:: NC_000007.14:67295622:T:A
Gene:: PMS2P4 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000007.14:g.67295623T>A, NC_000007.13:g.66760610T>A, NR_022007.2:n.473A>T, NR_046297.1:n.473A>T, NR_046299.1:n.473A>T

Select item 14502085097.

rs1450208509 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:67297227 (GRCh38)
7:66762214 (GRCh37)
Canonical SPDI:: NC_000007.14:67297226:A:G
Gene:: PMS2P4 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.67297227A>G, NC_000007.13:g.66762214A>G, NR_022007.2:n.284T>C, NR_046297.1:n.284T>C, NR_046299.1:n.284T>C

Select item 14337900528.

rs1433790052 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:67287622 (GRCh38)
7:66752609 (GRCh37)
Canonical SPDI:: NC_000007.14:67287621:G:C
Gene:: PMS2P4 (Varview), SPDYE21 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.67287622G>C, NC_000007.13:g.66752609G>C, NM_001382715.2:c.*150G>C, NM_001382715.1:c.*150G>C, NR_046297.1:n.663C>G

Select item 14319693059.

rs1431969305 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:67295621 (GRCh38)
7:66760608 (GRCh37)
Canonical SPDI:: NC_000007.14:67295620:C:T
Gene:: PMS2P4 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.67295621C>T, NC_000007.13:g.66760608C>T, NR_022007.2:n.475G>A, NR_046297.1:n.475G>A, NR_046299.1:n.475G>A

Select item 143137593910.

rs1431375939 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 7:67299387 (GRCh38)
7:66764374 (GRCh37)
Canonical SPDI:: NC_000007.14:67299386:T:G
Gene:: PMS2P4 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.67299387T>G, NC_000007.13:g.66764374T>G, NR_022007.2:n.105A>C, NR_046297.1:n.105A>C, NR_046299.1:n.105A>C

Select item 143042557511.

rs1430425575 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:67295702 (GRCh38)
7:66760689 (GRCh37)
Canonical SPDI:: NC_000007.14:67295701:G:A
Gene:: PMS2P4 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (KOREAN)
A=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.67295702G>A, NC_000007.13:g.66760689G>A, NR_022007.2:n.394C>T, NR_046297.1:n.394C>T, NR_046299.1:n.394C>T

Select item 142984746312.

rs1429847463 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:67302378 (GRCh38)
7:66767365 (GRCh37)
Canonical SPDI:: NC_000007.14:67302377:C:A
Gene:: PMS2P4 (Varview), STAG3L4 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000021/3 (GnomAD)
A=0.00003/8 (TOPMED)
A=0.000035/1 (TOMMO)
A=0.000342/1 (KOREAN)
HGVS:: NC_000007.14:g.67302378C>A, NC_000007.13:g.66767365C>A, NR_022007.2:n.65G>T, NR_046297.1:n.65G>T, NR_046299.1:n.65G>T

Select item 142612065013.

rs1426120650 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:67292492 (GRCh38)
7:66757479 (GRCh37)
Canonical SPDI:: NC_000007.14:67292491:T:C
Gene:: PMS2P4 (Varview)
Functional Consequence:: non_coding_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_000007.14:g.67292492T>C, NC_000007.13:g.66757479T>C, NR_022007.2:n.536A>G, NR_046297.1:n.536A>G, NR_046299.1:n.536A>G

Select item 142433049314.

rs1424330493 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CC [Show Flanks]
Chromosome:: 7:67299387 (GRCh38)
7:66764375 (GRCh37)
Canonical SPDI:: NC_000007.14:67299387:CC:CCCC
Gene:: PMS2P4 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCC=0./0 (ALFA)
CC=0.000011/3 (TOPMED)
CC=0.000021/3 (GnomAD)
HGVS:: NC_000007.14:g.67299388_67299389dup, NC_000007.13:g.66764375_66764376dup, NR_022007.2:n.103_104dup, NR_046297.1:n.103_104dup, NR_046299.1:n.103_104dup

Select item 142322926115.

rs1423229261 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:67287551 (GRCh38)
7:66752538 (GRCh37)
Canonical SPDI:: NC_000007.14:67287550:C:T
Gene:: PMS2P4 (Varview), SPDYE21 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.67287551C>T, NC_000007.13:g.66752538C>T, NM_001382715.2:c.*79C>T, NM_001382715.1:c.*79C>T, NR_046297.1:n.734G>A

Select item 142156791016.

rs1421567910 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:67295737 (GRCh38)
7:66760724 (GRCh37)
Canonical SPDI:: NC_000007.14:67295736:C:T
Gene:: PMS2P4 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000029/4 (GnomAD)
T=0.000049/13 (TOPMED)
HGVS:: NC_000007.14:g.67295737C>T, NC_000007.13:g.66760724C>T, NR_022007.2:n.359G>A, NR_046297.1:n.359G>A, NR_046299.1:n.359G>A

Select item 141180372017.

rs1411803720 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 7:67287701 (GRCh38)
7:66752688 (GRCh37)
Canonical SPDI:: NC_000007.14:67287700:T:C,NC_000007.14:67287700:T:G
Gene:: PMS2P4 (Varview), SPDYE21 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00291/33 (ALFA)
C=0.00002/1 (GnomAD)
G=0.0006/10 (TOMMO)
G=0.02758/77 (KOREAN)
T=0.5/1 (SGDP_PRJ)
HGVS:: NC_000007.14:g.67287701T>C, NC_000007.14:g.67287701T>G, NC_000007.13:g.66752688T>C, NC_000007.13:g.66752688T>G, NM_001382715.2:c.*229T>C, NM_001382715.2:c.*229T>G, NM_001382715.1:c.*229T>C, NM_001382715.1:c.*229T>G, NR_046297.1:n.584A>G, NR_046297.1:n.584A>C

Select item 141101625418.

rs1411016254 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:67292506 (GRCh38)
7:66757493 (GRCh37)
Canonical SPDI:: NC_000007.14:67292505:G:C
Gene:: PMS2P4 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000029/4 (GnomAD)
HGVS:: NC_000007.14:g.67292506G>C, NC_000007.13:g.66757493G>C, NR_022007.2:n.522C>G, NR_046297.1:n.522C>G, NR_046299.1:n.522C>G

Select item 140998554619.

rs1409985546 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:67287616 (GRCh38)
7:66752603 (GRCh37)
Canonical SPDI:: NC_000007.14:67287615:C:A
Gene:: PMS2P4 (Varview), SPDYE21 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,intron_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_000007.14:g.67287616C>A, NC_000007.13:g.66752603C>A, NM_001382715.2:c.*144C>A, NM_001382715.1:c.*144C>A, NR_046297.1:n.669G>T

Select item 140836525420.

rs1408365254 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:67299393 (GRCh38)
7:66764380 (GRCh37)
Canonical SPDI:: NC_000007.14:67299392:C:T
Gene:: PMS2P4 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.67299393C>T, NC_000007.13:g.66764380C>T, NR_022007.2:n.99G>A, NR_046297.1:n.99G>A, NR_046299.1:n.99G>A

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