SNP Links for Nucleotide (Select 526253103) - SNP

Links from Nucleotide

Items: 1 to 20 of 232

<< First< Prev

Page of 12

Next >Last >>

Select item 14843716661.

rs1484371666 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 7:74890776 (GRCh38)
7:74306895 (GRCh37)
Canonical SPDI:: NC_000007.14:74890775:C:A,NC_000007.14:74890775:C:T
Gene:: PMS2P5 (Varview), STAG3L2 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000007.14:g.74890776C>A, NC_000007.14:g.74890776C>T, NW_003871064.1:g.2420012C>A, NW_003871064.1:g.2420012C>T, NC_000007.13:g.74306895C>A, NC_000007.13:g.74306895C>T, NR_027775.2:n.9C>A, NR_027775.2:n.9C>T, NR_027776.2:n.9C>A, NR_027776.2:n.9C>T, NR_027777.2:n.9C>A, NR_027777.2:n.9C>T

Select item 14829183792.

rs1482918379 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:74896153 (GRCh38)
7:74312270 (GRCh37)
Canonical SPDI:: NC_000007.14:74896152:G:A
Gene:: PMS2P5 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000007.14:g.74896153G>A, NW_003871064.1:g.2425389G>A, NC_000007.13:g.74312270G>A, NR_027775.2:n.227G>A, NR_027776.2:n.227G>A

Select item 14811390333.

rs1481139033 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 7:74905712 (GRCh38)
7:74321817 (GRCh37)
Canonical SPDI:: NC_000007.14:74905711:G:A,NC_000007.14:74905711:G:T
Gene:: PMS2P5 (Varview), SPDYE12 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00008/1 (ALFA)
HGVS:: NC_000007.14:g.74905712G>A, NC_000007.14:g.74905712G>T, NW_003871064.1:g.2434948G>A, NW_003871064.1:g.2434948G>T, NC_000007.13:g.74321817G>A, NC_000007.13:g.74321817G>T, NM_001382555.2:c.*105C>T, NM_001382555.2:c.*105C>A, NM_001382555.1:c.*105C>T, NM_001382555.1:c.*105C>A, NR_027775.2:n.817G>A, NR_027775.2:n.817G>T, NR_027776.2:n.714G>A, NR_027776.2:n.714G>T, XM_047419678.1:c.*958C>T, XM_047419678.1:c.*958C>A

Select item 14805470214.

rs1480547021 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:74905860 (GRCh38)
7:74321965 (GRCh37)
Canonical SPDI:: NC_000007.14:74905859:G:A
Gene:: PMS2P5 (Varview), SPDYE12 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000007.14:g.74905860G>A, NW_003871064.1:g.2435096G>A, NC_000007.13:g.74321965G>A, NR_027775.2:n.965G>A, NR_027776.2:n.862G>A, XM_047419678.1:c.*810C>T

Select item 14798600345.

rs1479860034 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:74897744 (GRCh38)
7:74313860 (GRCh37)
Canonical SPDI:: NC_000007.14:74897743:A:G
Gene:: PMS2P5 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000016/2 (GnomAD)
HGVS:: NC_000007.14:g.74897744A>G, NW_003871064.1:g.2426980A>G, NC_000007.13:g.74313860A>G, NR_027775.2:n.502A>G, NR_027776.2:n.399A>G, NR_027777.2:n.312A>G

Select item 14797000216.

rs1479700021 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 7:74906015 (GRCh38)
7:74322120 (GRCh37)
Canonical SPDI:: NC_000007.14:74906014:A:C
Gene:: PMS2P5 (Varview), SPDYE12 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00845/138 (ALFA)
C=0.00095/16 (TOMMO)
C=0.00171/5 (KOREAN)
HGVS:: NC_000007.14:g.74906015A>C, NW_003871064.1:g.2435251A>C, NC_000007.13:g.74322120A>C, NR_027775.2:n.1120A>C, NR_027776.2:n.1017A>C, XM_047419678.1:c.*655T>G

Select item 14766583407.

rs1476658340 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:74906109 (GRCh38)
7:74322214 (GRCh37)
Canonical SPDI:: NC_000007.14:74906108:A:G
Gene:: PMS2P5 (Varview), SPDYE12 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000007.14:g.74906109A>G, NW_003871064.1:g.2435345A>G, NC_000007.13:g.74322214A>G, NR_027775.2:n.1214A>G, NR_027776.2:n.1111A>G, XM_047419678.1:c.*561T>C

Select item 14757248858.

rs1475724885 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 7:74894218 (GRCh38)
7:74310333 (GRCh37)
Canonical SPDI:: NC_000007.14:74894217:A:T
Gene:: PMS2P5 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000007.14:g.74894218A>T, NW_003871064.1:g.2423454A>T, NC_000007.13:g.74310333A>T, NR_027775.2:n.180A>T, NR_027776.2:n.180A>T, NR_027777.2:n.180A>T

Select item 14746464219.

rs1474646421 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 7:74897713 (GRCh38)
7:74313829 (GRCh37)
Canonical SPDI:: NC_000007.14:74897712:C:G,NC_000007.14:74897712:C:T
Gene:: PMS2P5 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/1 (GnomAD)
G=0.000021/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.74897713C>G, NC_000007.14:g.74897713C>T, NW_003871064.1:g.2426949C>G, NW_003871064.1:g.2426949C>T, NC_000007.13:g.74313829C>G, NC_000007.13:g.74313829C>T, NR_027775.2:n.471C>G, NR_027775.2:n.471C>T, NR_027776.2:n.368C>G, NR_027776.2:n.368C>T, NR_027777.2:n.281C>G, NR_027777.2:n.281C>T

Select item 147257300510.

rs1472573005 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:74906216 (GRCh38)
7:74322321 (GRCh37)
Canonical SPDI:: NC_000007.14:74906215:C:G
Gene:: PMS2P5 (Varview), SPDYE12 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.74906216C>G, NW_003871064.1:g.2435452C>G, NC_000007.13:g.74322321C>G, NR_027775.2:n.1321C>G, NR_027776.2:n.1218C>G, XM_047419678.1:c.*454G>C

Select item 147243496611.

rs1472434966 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 7:74905927 (GRCh38)
7:74322032 (GRCh37)
Canonical SPDI:: NC_000007.14:74905926:C:A,NC_000007.14:74905926:C:G,NC_000007.14:74905926:C:T
Gene:: PMS2P5 (Varview), SPDYE12 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000008/2 (TOPMED)
A=0.005/3 (NorthernSweden)
HGVS:: NC_000007.14:g.74905927C>A, NC_000007.14:g.74905927C>G, NC_000007.14:g.74905927C>T, NW_003871064.1:g.2435163C>A, NW_003871064.1:g.2435163C>G, NW_003871064.1:g.2435163C>T, NC_000007.13:g.74322032C>A, NC_000007.13:g.74322032C>G, NC_000007.13:g.74322032C>T, NR_027775.2:n.1032C>A, NR_027775.2:n.1032C>G, NR_027775.2:n.1032C>T, NR_027776.2:n.929C>A, NR_027776.2:n.929C>G, NR_027776.2:n.929C>T, XM_047419678.1:c.*743G>T, XM_047419678.1:c.*743G>C, XM_047419678.1:c.*743G>A

Select item 147083513112.

rs1470835131 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:74894208 (GRCh38)
7:74310323 (GRCh37)
Canonical SPDI:: NC_000007.14:74894207:G:A
Gene:: PMS2P5 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000084/1 (ALFA)
A=0.000019/1 (GnomAD)
A=0.000027/6 (GnomAD_exomes)
HGVS:: NC_000007.14:g.74894208G>A, NW_003871064.1:g.2423444G>A, NC_000007.13:g.74310323G>A, NR_027775.2:n.170G>A, NR_027776.2:n.170G>A, NR_027777.2:n.170G>A

Select item 147024830713.

rs1470248307 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:74905911 (GRCh38)
7:74322016 (GRCh37)
Canonical SPDI:: NC_000007.14:74905910:C:T
Gene:: PMS2P5 (Varview), SPDYE12 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00003/4 (GnomAD)
HGVS:: NC_000007.14:g.74905911C>T, NW_003871064.1:g.2435147C>T, NC_000007.13:g.74322016C>T, NR_027775.2:n.1016C>T, NR_027776.2:n.913C>T, XM_047419678.1:c.*759G>A

Select item 146851395814.

rs1468513958 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 7:74906106 (GRCh38)
7:74322211 (GRCh37)
Canonical SPDI:: NC_000007.14:74906105:C:
Gene:: PMS2P5 (Varview), SPDYE12 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000007.14:g.74906106del, NW_003871064.1:g.2435342del, NC_000007.13:g.74322211del, NR_027775.2:n.1211del, NR_027776.2:n.1108del, XM_047419678.1:c.*564del

Select item 146529996115.

rs1465299961 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 7:74905682 (GRCh38)
7:74321787 (GRCh37)
Canonical SPDI:: NC_000007.14:74905681:A:C
Gene:: PMS2P5 (Varview), SPDYE12 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.01399/166 (ALFA)
C=0.00045/25 (GnomAD)
C=0.00253/42 (TOMMO)
HGVS:: NC_000007.14:g.74905682A>C, NW_003871064.1:g.2434918A>C, NC_000007.13:g.74321787A>C, NM_001382555.2:c.*135T>G, NM_001382555.1:c.*135T>G, NR_027775.2:n.787A>C, NR_027776.2:n.684A>C, XM_047419678.1:c.*988T>G

Select item 146331216616.

rs1463312166 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:74897682 (GRCh38)
7:74313798 (GRCh37)
Canonical SPDI:: NC_000007.14:74897681:G:A
Gene:: PMS2P5 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000007.14:g.74897682G>A, NW_003871064.1:g.2426918G>A, NC_000007.13:g.74313798G>A, NR_027775.2:n.440G>A, NR_027776.2:n.337G>A, NR_027777.2:n.250G>A

Select item 146231796017.

rs1462317960 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:74905702 (GRCh38)
7:74321807 (GRCh37)
Canonical SPDI:: NC_000007.14:74905701:C:T
Gene:: PMS2P5 (Varview), SPDYE12 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000007.14:g.74905702C>T, NW_003871064.1:g.2434938C>T, NC_000007.13:g.74321807C>T, NM_001382555.2:c.*115G>A, NM_001382555.1:c.*115G>A, NR_027775.2:n.807C>T, NR_027776.2:n.704C>T, XM_047419678.1:c.*968G>A

Select item 146188066118.

rs1461880661 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 7:74906120 (GRCh38)
7:74322225 (GRCh37)
Canonical SPDI:: NC_000007.14:74906119:T:A,NC_000007.14:74906119:T:C
Gene:: PMS2P5 (Varview), SPDYE12 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000017/2 (GnomAD)
HGVS:: NC_000007.14:g.74906120T>A, NC_000007.14:g.74906120T>C, NW_003871064.1:g.2435356T>A, NW_003871064.1:g.2435356T>C, NC_000007.13:g.74322225T>A, NC_000007.13:g.74322225T>C, NR_027775.2:n.1225T>A, NR_027775.2:n.1225T>C, NR_027776.2:n.1122T>A, NR_027776.2:n.1122T>C, XM_047419678.1:c.*550A>T, XM_047419678.1:c.*550A>G

Select item 146032806819.

rs1460328068 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:74905822 (GRCh38)
7:74321927 (GRCh37)
Canonical SPDI:: NC_000007.14:74905821:A:G
Gene:: PMS2P5 (Varview), SPDYE12 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.74905822A>G, NW_003871064.1:g.2435058A>G, NC_000007.13:g.74321927A>G, NR_027775.2:n.927A>G, NR_027776.2:n.824A>G, XM_047419678.1:c.*848T>C

Select item 145640616320.

rs1456406163 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:74906003 (GRCh38)
7:74322108 (GRCh37)
Canonical SPDI:: NC_000007.14:74906002:C:G
Gene:: PMS2P5 (Varview), SPDYE12 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000007.14:g.74906003C>G, NW_003871064.1:g.2435239C>G, NC_000007.13:g.74322108C>G, NR_027775.2:n.1108C>G, NR_027776.2:n.1005C>G, XM_047419678.1:c.*667G>C

<< First< Prev

Page of 12

Next >Last >>

dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Nucleotide

Items: 1 to 20 of 232

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity