SNP Links for Nucleotide (Select 723586619) - SNP

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:37416771 (GRCh38)
3:37458262 (GRCh37)
Canonical SPDI:: NC_000003.12:37416770:C:A
Gene:: APRG1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
HGVS:: NC_000003.12:g.37416771C>A, NC_000003.11:g.37458262C>A, NR_126515.1:n.573C>A, NM_178343.1:c.*153C>A

Select item 14476075067.

rs1447607506 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:37416660 (GRCh38)
3:37458151 (GRCh37)
Canonical SPDI:: NC_000003.12:37416659:G:A
Gene:: APRG1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.37416660G>A, NC_000003.11:g.37458151G>A, NM_178338.2:c.-203G>A, NM_178344.2:c.-313G>A, NM_178342.2:c.-203G>A, NM_178339.2:c.-203G>A, NR_171174.1:n.3804G>A, NR_171173.1:n.2757G>A, NM_001387164.1:c.-313G>A, NM_001302832.1:c.-203G>A, NM_001302831.1:c.-203G>A, NR_126512.1:n.462G>A, NM_178341.1:c.38G>A, NM_178340.1:c.38G>A, NR_126514.1:n.462G>A, NR_126513.1:n.462G>A, NM_178344.1:c.*42G>A, NR_126515.1:n.462G>A, NM_178343.1:c.*42G>A

Select item 14442366848.

rs1444236684 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:37399540 (GRCh38)
3:37441031 (GRCh37)
Canonical SPDI:: NC_000003.12:37399539:A:G
Gene:: APRG1 (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_000003.12:g.37399540A>G, NC_000003.11:g.37441031A>G, NM_178338.2:c.-602A>G, NM_178342.2:c.-601A>G, NM_178339.2:c.-601A>G, NR_171173.1:n.2359A>G, NM_001387164.1:c.-711A>G, NR_126512.1:n.64A>G, NM_178341.1:c.-362A>G, NM_178340.1:c.-362A>G, NR_126514.1:n.64A>G, NR_126513.1:n.64A>G, NR_126515.1:n.64A>G, NM_178343.1:c.-223A>G

Select item 14425392909.

rs1442539290 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:37399536 (GRCh38)
3:37441027 (GRCh37)
Canonical SPDI:: NC_000003.12:37399535:A:G
Gene:: APRG1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.0004/2 (ALFA)
G=0.0004/2 (Estonian)
HGVS:: NC_000003.12:g.37399536A>G, NC_000003.11:g.37441027A>G, NM_178338.2:c.-606A>G, NM_178342.2:c.-605A>G, NM_178339.2:c.-605A>G, NR_171173.1:n.2355A>G, NM_001387164.1:c.-715A>G, NR_126512.1:n.60A>G, NM_178341.1:c.-366A>G, NM_178340.1:c.-366A>G, NR_126514.1:n.60A>G, NR_126513.1:n.60A>G, NR_126515.1:n.60A>G, NM_178343.1:c.-227A>G

Select item 142730306110.

rs1427303061 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 3:37411245 (GRCh38)
3:37452736 (GRCh37)
Canonical SPDI:: NC_000003.12:37411244:A:T
Gene:: APRG1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.37411245A>T, NC_000003.11:g.37452736A>T, NM_178338.2:c.-374A>T, NM_178344.2:c.-484A>T, NM_178342.2:c.-374A>T, NM_178339.2:c.-374A>T, NR_171174.1:n.3633A>T, NR_171173.1:n.2586A>T, NM_001387164.1:c.-484A>T, NM_001302832.1:c.-498A>T, NM_001302831.1:c.-493A>T, NR_126512.1:n.291A>T, NM_178341.1:c.-134A>T, NM_178340.1:c.-134A>T, NR_126514.1:n.291A>T, NR_126513.1:n.291A>T, NM_178344.1:c.6A>T, NR_126515.1:n.291A>T, NM_178343.1:c.6A>T

Select item 142477917611.

rs1424779176 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 3:37399621 (GRCh38)
3:37441112 (GRCh37)
Canonical SPDI:: NC_000003.12:37399620:C:G,NC_000003.12:37399620:C:T
Gene:: APRG1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000023/6 (TOPMED)
HGVS:: NC_000003.12:g.37399621C>G, NC_000003.12:g.37399621C>T, NC_000003.11:g.37441112C>G, NC_000003.11:g.37441112C>T, NM_178338.2:c.-521C>G, NM_178338.2:c.-521C>T, NM_178342.2:c.-520C>G, NM_178342.2:c.-520C>T, NM_178339.2:c.-520C>G, NM_178339.2:c.-520C>T, NR_171173.1:n.2440C>G, NR_171173.1:n.2440C>T, NM_001387164.1:c.-630C>G, NM_001387164.1:c.-630C>T, NR_126512.1:n.145C>G, NR_126512.1:n.145C>T, NM_178341.1:c.-281C>G, NM_178341.1:c.-281C>T, NM_178340.1:c.-281C>G, NM_178340.1:c.-281C>T, NR_126514.1:n.145C>G, NR_126514.1:n.145C>T, NR_126513.1:n.145C>G, NR_126513.1:n.145C>T, NR_126515.1:n.145C>G, NR_126515.1:n.145C>T, NM_178343.1:c.-142C>G, NM_178343.1:c.-142C>T

Select item 142152147412.

rs1421521474 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 3:37416650 (GRCh38)
3:37458141 (GRCh37)
Canonical SPDI:: NC_000003.12:37416649:A:C
Gene:: APRG1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.37416650A>C, NC_000003.11:g.37458141A>C, NM_178338.2:c.-213A>C, NM_178344.2:c.-323A>C, NM_178342.2:c.-213A>C, NM_178339.2:c.-213A>C, NR_171174.1:n.3794A>C, NR_171173.1:n.2747A>C, NM_001387164.1:c.-323A>C, NM_001302832.1:c.-213A>C, NM_001302831.1:c.-213A>C, NR_126512.1:n.452A>C, NM_178341.1:c.28A>C, NM_178340.1:c.28A>C, NR_126514.1:n.452A>C, NR_126513.1:n.452A>C, NM_178344.1:c.*32A>C, NR_126515.1:n.452A>C, NM_178343.1:c.*32A>C

Select item 141700275713.

rs1417002757 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 3:37411161 (GRCh38)
3:37452652 (GRCh37)
Canonical SPDI:: NC_000003.12:37411160:A:C
Gene:: APRG1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000019/5 (TOPMED)
HGVS:: NC_000003.12:g.37411161A>C, NC_000003.11:g.37452652A>C, NM_178338.2:c.-458A>C, NM_178344.2:c.-568A>C, NM_178342.2:c.-458A>C, NM_178339.2:c.-458A>C, NR_171174.1:n.3549A>C, NR_171173.1:n.2502A>C, NM_001387164.1:c.-568A>C, NM_001302832.1:c.-582A>C, NM_001302831.1:c.-577A>C, NR_126512.1:n.207A>C, NM_178341.1:c.-218A>C, NM_178340.1:c.-218A>C, NR_126514.1:n.207A>C, NR_126513.1:n.207A>C, NM_178344.1:c.-79A>C, NR_126515.1:n.207A>C, NM_178343.1:c.-79A>C

Select item 140609805714.

rs1406098057 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 3:37399529 (GRCh38)
3:37441021 (GRCh37)
Canonical SPDI:: NC_000003.12:37399529::A
Gene:: APRG1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.0004/2 (ALFA)
A=0.0004/2 (Estonian)
HGVS:: NC_000003.12:g.37399529_37399530insA, NC_000003.11:g.37441020_37441021insA, NM_178338.2:c.-613_-612insA, NM_178342.2:c.-612_-611insA, NM_178339.2:c.-612_-611insA, NR_171173.1:n.2348_2349insA, NM_001387164.1:c.-722_-721insA, NR_126512.1:n.53_54insA, NM_178341.1:c.-373_-372insA, NM_178340.1:c.-373_-372insA, NR_126514.1:n.53_54insA, NR_126513.1:n.53_54insA, NR_126515.1:n.53_54insA, NM_178343.1:c.-234_-233insA

Select item 140468627815.

rs1404686278 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTT>- [Show Flanks]
Chromosome:: 3:37399563 (GRCh38)
3:37441054 (GRCh37)
Canonical SPDI:: NC_000003.12:37399559:CTTCTT:CTT
Gene:: APRG1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTTCTT=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000019/5 (TOPMED)
HGVS:: NC_000003.12:g.37399560CTT[1], NC_000003.11:g.37441051CTT[1], NM_178338.2:c.-582CTT[1], NM_178342.2:c.-581CTT[1], NM_178339.2:c.-581CTT[1], NR_171173.1:n.2379CTT[1], NM_001387164.1:c.-691CTT[1], NR_126512.1:n.84CTT[1], NM_178341.1:c.-342CTT[1], NM_178340.1:c.-342CTT[1], NR_126514.1:n.84CTT[1], NR_126513.1:n.84CTT[1], NR_126515.1:n.84CTT[1], NM_178343.1:c.-203CTT[1]

Select item 139059795916.

rs1390597959 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:37416779 (GRCh38)
3:37458270 (GRCh37)
Canonical SPDI:: NC_000003.12:37416778:T:C
Gene:: APRG1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_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_000003.12:g.37416779T>C, NC_000003.11:g.37458270T>C, NR_126515.1:n.581T>C, NM_178343.1:c.*161T>C

Select item 137675703917.

rs1376757039 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:37411145 (GRCh38)
3:37452636 (GRCh37)
Canonical SPDI:: NC_000003.12:37411144:C:T
Gene:: APRG1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.001027/3 (KOREAN)
HGVS:: NC_000003.12:g.37411145C>T, NC_000003.11:g.37452636C>T, NM_178338.2:c.-474C>T, NM_178344.2:c.-584C>T, NM_178342.2:c.-474C>T, NM_178339.2:c.-474C>T, NR_171174.1:n.3533C>T, NR_171173.1:n.2486C>T, NM_001387164.1:c.-584C>T, NM_001302832.1:c.-598C>T, NM_001302831.1:c.-593C>T, NR_126512.1:n.191C>T, NM_178341.1:c.-234C>T, NM_178340.1:c.-234C>T, NR_126514.1:n.191C>T, NR_126513.1:n.191C>T, NM_178344.1:c.-95C>T, NR_126515.1:n.191C>T, NM_178343.1:c.-95C>T

Select item 136785938518.

rs1367859385 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:37416680 (GRCh38)
3:37458171 (GRCh37)
Canonical SPDI:: NC_000003.12:37416679:T:C
Gene:: APRG1 (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=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.37416680T>C, NC_000003.11:g.37458171T>C, NM_178338.2:c.-183T>C, NM_178344.2:c.-293T>C, NM_178342.2:c.-183T>C, NM_178339.2:c.-183T>C, NR_171174.1:n.3824T>C, NR_171173.1:n.2777T>C, NM_001387164.1:c.-293T>C, NM_001302832.1:c.-183T>C, NM_001302831.1:c.-183T>C, NR_126512.1:n.482T>C, NM_178341.1:c.58T>C, NM_178340.1:c.58T>C, NR_126514.1:n.482T>C, NR_126513.1:n.482T>C, NM_178344.1:c.*62T>C, NR_126515.1:n.482T>C, NM_178343.1:c.*62T>C

Select item 136562398019.

rs1365623980 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:37416745 (GRCh38)
3:37458236 (GRCh37)
Canonical SPDI:: NC_000003.12:37416744:T:C
Gene:: APRG1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.37416745T>C, NC_000003.11:g.37458236T>C, NR_126515.1:n.547T>C, NM_178343.1:c.*127T>C

Select item 135821570620.

rs1358215706 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:37399535 (GRCh38)
3:37441026 (GRCh37)
Canonical SPDI:: NC_000003.12:37399534:G:C
Gene:: APRG1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.0004/2 (ALFA)
C=0.0004/2 (Estonian)
HGVS:: NC_000003.12:g.37399535G>C, NC_000003.11:g.37441026G>C, NM_178338.2:c.-607G>C, NM_178342.2:c.-606G>C, NM_178339.2:c.-606G>C, NR_171173.1:n.2354G>C, NM_001387164.1:c.-716G>C, NR_126512.1:n.59G>C, NM_178341.1:c.-367G>C, NM_178340.1:c.-367G>C, NR_126514.1:n.59G>C, NR_126513.1:n.59G>C, NR_126515.1:n.59G>C, NM_178343.1:c.-228G>C

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