SNP Links for Nucleotide (Select 426214518) - SNP

Links from Nucleotide

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Select item 14914362901.

rs1491436290 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TTGTGTTTTTATTGTT [Show Flanks]
Chromosome:: 4:165403696 (GRCh38)
4:166324849 (GRCh37)
Canonical SPDI:: NC_000004.12:165403696:GTTTTTATTGTT:GTTTTTATTGTTTTGTGTTTTTATTGTT
Gene:: CPE (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: GTTTTTATTGTTTTGT=0.000008/1 (GnomAD)
HGVS:: NC_000004.12:g.165403708_165403709insTTGTGTTTTTATTGTT, NC_000004.11:g.166324860_166324861insTTGTGTTTTTATTGTT, NG_000863.4:g.2788_2789insACAAAACAATAAAAAC

Select item 14911593272.

rs1491159327 [Homo sapiens]

Variant type:: SNV:
Alleles:: GG>-
Chromosome:: no mapping
Canonical SPDI:

Select item 14908050323.

rs1490805032 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 4:165405568 (GRCh38)
4:166326720 (GRCh37)
Canonical SPDI:: NC_000004.12:165405567:T:G
Gene:: CPE (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000004.12:g.165405568T>G, NC_000004.11:g.166326720T>G, NG_000863.4:g.917A>C

Select item 14900515644.

rs1490051564 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:165406175 (GRCh38)
4:166327327 (GRCh37)
Canonical SPDI:: NC_000004.12:165406174:A:G
Gene:: CPE (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.00046/8 (TOMMO)
G=0.001027/3 (KOREAN)
HGVS:: NC_000004.12:g.165406175A>G, NC_000004.11:g.166327327A>G, NG_000863.4:g.310T>C

Select item 14897131405.

rs1489713140 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:165406332 (GRCh38)
4:166327484 (GRCh37)
Canonical SPDI:: NC_000004.12:165406331:G:A
Gene:: CPE (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.165406332G>A, NC_000004.11:g.166327484G>A, NG_000863.4:g.153C>T

Select item 14894207506.

rs1489420750 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:165405902 (GRCh38)
4:166327054 (GRCh37)
Canonical SPDI:: NC_000004.12:165405901:A:G
Gene:: CPE (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000019/5 (TOPMED)
HGVS:: NC_000004.12:g.165405902A>G, NC_000004.11:g.166327054A>G, NG_000863.4:g.583T>C

Select item 14872081957.

rs1487208195 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:165404237 (GRCh38)
4:166325389 (GRCh37)
Canonical SPDI:: NC_000004.12:165404236:C:T
Gene:: CPE (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.165404237C>T, NC_000004.11:g.166325389C>T, NG_000863.4:g.2248G>A

Select item 14865469978.

rs1486546997 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:165406339 (GRCh38)
4:166327491 (GRCh37)
Canonical SPDI:: NC_000004.12:165406338:A:G
Gene:: CPE (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000447/2 (ALFA)
G=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.165406339A>G, NC_000004.11:g.166327491A>G, NG_000863.4:g.146T>C

Select item 14861575159.

rs1486157515 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 4:165405122 (GRCh38)
4:166326274 (GRCh37)
Canonical SPDI:: NC_000004.12:165405121:T:A
Gene:: CPE (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.165405122T>A, NC_000004.11:g.166326274T>A, NG_000863.4:g.1363A>T

Select item 148608138410.

rs1486081384 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 4:165406027 (GRCh38)
4:166327179 (GRCh37)
Canonical SPDI:: NC_000004.12:165406026:A:C
Gene:: CPE (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000004.12:g.165406027A>C, NC_000004.11:g.166327179A>C, NG_000863.4:g.458T>G

Select item 148452004411.

rs1484520044 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 4:165405452 (GRCh38)
4:166326604 (GRCh37)
Canonical SPDI:: NC_000004.12:165405451:A:T
Gene:: CPE (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.165405452A>T, NC_000004.11:g.166326604A>T, NG_000863.4:g.1033T>A

Select item 148233272612.

rs1482332726 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:165403695 (GRCh38)
4:166324847 (GRCh37)
Canonical SPDI:: NC_000004.12:165403694:T:C
Gene:: CPE (Varview)
Functional Consequence:: 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_000004.12:g.165403695T>C, NC_000004.11:g.166324847T>C, NG_000863.4:g.2790A>G

Select item 148115083713.

rs1481150837 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:165404528 (GRCh38)
4:166325680 (GRCh37)
Canonical SPDI:: NC_000004.12:165404527:T:C
Gene:: CPE (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.165404528T>C, NC_000004.11:g.166325680T>C, NG_000863.4:g.1957A>G

Select item 148072440714.

rs1480724407 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:165404745 (GRCh38)
4:166325897 (GRCh37)
Canonical SPDI:: NC_000004.12:165404744:C:T
Gene:: CPE (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
HGVS:: NC_000004.12:g.165404745C>T, NC_000004.11:g.166325897C>T, NG_000863.4:g.1740G>A

Select item 147609748015.

rs1476097480 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 4:165404168 (GRCh38)
4:166325320 (GRCh37)
Canonical SPDI:: NC_000004.12:165404167:A:T
Gene:: CPE (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000004.12:g.165404168A>T, NC_000004.11:g.166325320A>T, NG_000863.4:g.2317T>A

Select item 147567832516.

rs1475678325 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 4:165405135 (GRCh38)
4:166326287 (GRCh37)
Canonical SPDI:: NC_000004.12:165405134:C:G
Gene:: CPE (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000142/2 (ALFA)
G=0.000029/4 (GnomAD)
G=0.000038/10 (TOPMED)
HGVS:: NC_000004.12:g.165405135C>G, NC_000004.11:g.166326287C>G, NG_000863.4:g.1350G>C

Select item 147539301817.

rs1475393018 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 4:165405184 (GRCh38)
4:166326336 (GRCh37)
Canonical SPDI:: NC_000004.12:165405183:T:G
Gene:: CPE (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000004.12:g.165405184T>G, NC_000004.11:g.166326336T>G, NG_000863.4:g.1301A>C

Select item 147441913618.

rs1474419136 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:165405985 (GRCh38)
4:166327137 (GRCh37)
Canonical SPDI:: NC_000004.12:165405984:T:C
Gene:: CPE (Varview)
Functional Consequence:: 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_000004.12:g.165405985T>C, NC_000004.11:g.166327137T>C, NG_000863.4:g.500A>G

Select item 147247159019.

rs1472471590 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 4:165404244 (GRCh38)
4:166325396 (GRCh37)
Canonical SPDI:: NC_000004.12:165404243:C:G,NC_000004.12:165404243:C:T
Gene:: CPE (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000054/1 (ALFA)
T=0.000021/3 (GnomAD)
HGVS:: NC_000004.12:g.165404244C>G, NC_000004.12:g.165404244C>T, NC_000004.11:g.166325396C>G, NC_000004.11:g.166325396C>T, NG_000863.4:g.2241G>C, NG_000863.4:g.2241G>A

Select item 147190144320.

rs1471901443 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:165403810 (GRCh38)
4:166324962 (GRCh37)
Canonical SPDI:: NC_000004.12:165403809:A:G
Gene:: CPE (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.165403810A>G, NC_000004.11:g.166324962A>G, NG_000863.4:g.2675T>C

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Links from Nucleotide

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