SNP Links for Nucleotide (Select 661903025) - SNP

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:66332501 (GRCh38)
1:66798184 (GRCh37)
Canonical SPDI:: NC_000001.11:66332500:T:C
Gene:: PDE4B (Varview)
Functional Consequence:: intron_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.66332501T>C, NC_000001.10:g.66798184T>C, NG_029038.1:g.544992T>C, NM_001037339.2:c.112T>C, NM_001037339.1:c.112T>C, NP_001032416.1:p.Phe38Leu

Select item 14855917789.

rs1485591778 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:66372623 (GRCh38)
1:66838306 (GRCh37)
Canonical SPDI:: NC_000001.11:66372622:T:C
Gene:: PDE4B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000248/4 (TOMMO)
HGVS:: NC_000001.11:g.66372623T>C, NC_000001.10:g.66838306T>C, NG_029038.1:g.585114T>C, NM_002600.4:c.2156T>C, NM_002600.3:c.2156T>C, NM_001037340.3:c.2111T>C, NM_001037340.2:c.2111T>C, NM_001037340.1:c.2111T>C, NM_001037341.2:c.2156T>C, NM_001037341.1:c.2156T>C, NM_001297440.2:c.1880T>C, NM_001297440.1:c.1880T>C, NM_001037339.2:c.1640T>C, NM_001037339.1:c.1640T>C, NM_001297442.2:c.1457T>C, NM_001297442.1:c.1457T>C, NM_001297441.1:c.1931T>C, XM_005270924.4:c.1499T>C, XM_005270924.3:c.1499T>C, XM_005270924.2:c.1499T>C, XM_005270924.1:c.1499T>C, XM_006710680.4:c.1541T>C, XM_006710680.3:c.1541T>C, XM_006710680.2:c.1541T>C, XM_006710680.1:c.1541T>C, XM_005270925.3:c.1499T>C, XM_005270925.2:c.1499T>C, XM_005270925.1:c.1499T>C, XM_017001445.2:c.1775T>C, XM_017001445.1:c.1739T>C, XM_047422401.1:c.1499T>C, NP_002591.2:p.Leu719Pro, NP_001032417.1:p.Leu704Pro, NP_001032418.1:p.Leu719Pro, NP_001284369.1:p.Leu627Pro, NP_001032416.1:p.Leu547Pro, NP_001284371.1:p.Leu486Pro, NP_001284370.1:p.Leu644Pro, XP_005270981.1:p.Leu500Pro, XP_006710743.1:p.Leu514Pro, XP_005270982.1:p.Leu500Pro, XP_016856934.2:p.Leu592Pro, XP_047278357.1:p.Leu500Pro

Select item 148378217910.

rs1483782179 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:66363566 (GRCh38)
1:66829249 (GRCh37)
Canonical SPDI:: NC_000001.11:66363565:T:G
Gene:: PDE4B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.66363566T>G, NC_000001.10:g.66829249T>G, NG_029038.1:g.576057T>G, NM_002600.4:c.1279T>G, NM_002600.3:c.1279T>G, NM_001037340.3:c.1234T>G, NM_001037340.2:c.1234T>G, NM_001037340.1:c.1234T>G, NM_001037341.2:c.1279T>G, NM_001037341.1:c.1279T>G, NM_001297440.2:c.1003T>G, NM_001297440.1:c.1003T>G, NM_001037339.2:c.763T>G, NM_001037339.1:c.763T>G, NM_001297442.2:c.580T>G, NM_001297442.1:c.580T>G, NM_001297441.1:c.1054T>G, XM_005270924.4:c.622T>G, XM_005270924.3:c.622T>G, XM_005270924.2:c.622T>G, XM_005270924.1:c.622T>G, XM_006710680.4:c.664T>G, XM_006710680.3:c.664T>G, XM_006710680.2:c.664T>G, XM_006710680.1:c.664T>G, XM_005270925.3:c.622T>G, XM_005270925.2:c.622T>G, XM_005270925.1:c.622T>G, XM_017001445.2:c.898T>G, XM_017001445.1:c.862T>G, XM_047422401.1:c.622T>G, NP_002591.2:p.Leu427Val, NP_001032417.1:p.Leu412Val, NP_001032418.1:p.Leu427Val, NP_001284369.1:p.Leu335Val, NP_001032416.1:p.Leu255Val, NP_001284371.1:p.Leu194Val, NP_001284370.1:p.Leu352Val, XP_005270981.1:p.Leu208Val, XP_006710743.1:p.Leu222Val, XP_005270982.1:p.Leu208Val, XP_016856934.2:p.Leu300Val, XP_047278357.1:p.Leu208Val

Select item 148322592111.

rs1483225921 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 1:66363461 (GRCh38)
1:66829144 (GRCh37)
Canonical SPDI:: NC_000001.11:66363460:A:C,NC_000001.11:66363460:A:G
Gene:: PDE4B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000001.11:g.66363461A>C, NC_000001.11:g.66363461A>G, NC_000001.10:g.66829144A>C, NC_000001.10:g.66829144A>G, NG_029038.1:g.575952A>C, NG_029038.1:g.575952A>G, NM_002600.4:c.1174A>C, NM_002600.4:c.1174A>G, NM_002600.3:c.1174A>C, NM_002600.3:c.1174A>G, NM_001037340.3:c.1129A>C, NM_001037340.3:c.1129A>G, NM_001037340.2:c.1129A>C, NM_001037340.2:c.1129A>G, NM_001037340.1:c.1129A>C, NM_001037340.1:c.1129A>G, NM_001037341.2:c.1174A>C, NM_001037341.2:c.1174A>G, NM_001037341.1:c.1174A>C, NM_001037341.1:c.1174A>G, NM_001297440.2:c.898A>C, NM_001297440.2:c.898A>G, NM_001297440.1:c.898A>C, NM_001297440.1:c.898A>G, NM_001037339.2:c.658A>C, NM_001037339.2:c.658A>G, NM_001037339.1:c.658A>C, NM_001037339.1:c.658A>G, NM_001297442.2:c.475A>C, NM_001297442.2:c.475A>G, NM_001297442.1:c.475A>C, NM_001297442.1:c.475A>G, NM_001297441.1:c.949A>C, NM_001297441.1:c.949A>G, XM_005270924.4:c.517A>C, XM_005270924.4:c.517A>G, XM_005270924.3:c.517A>C, XM_005270924.3:c.517A>G, XM_005270924.2:c.517A>C, XM_005270924.2:c.517A>G, XM_005270924.1:c.517A>C, XM_005270924.1:c.517A>G, XM_006710680.4:c.559A>C, XM_006710680.4:c.559A>G, XM_006710680.3:c.559A>C, XM_006710680.3:c.559A>G, XM_006710680.2:c.559A>C, XM_006710680.2:c.559A>G, XM_006710680.1:c.559A>C, XM_006710680.1:c.559A>G, XM_005270925.3:c.517A>C, XM_005270925.3:c.517A>G, XM_005270925.2:c.517A>C, XM_005270925.2:c.517A>G, XM_005270925.1:c.517A>C, XM_005270925.1:c.517A>G, XM_017001445.2:c.793A>C, XM_017001445.2:c.793A>G, XM_017001445.1:c.757A>C, XM_017001445.1:c.757A>G, XM_047422401.1:c.517A>C, XM_047422401.1:c.517A>G, NP_002591.2:p.Met392Leu, NP_002591.2:p.Met392Val, NP_001032417.1:p.Met377Leu, NP_001032417.1:p.Met377Val, NP_001032418.1:p.Met392Leu, NP_001032418.1:p.Met392Val, NP_001284369.1:p.Met300Leu, NP_001284369.1:p.Met300Val, NP_001032416.1:p.Met220Leu, NP_001032416.1:p.Met220Val, NP_001284371.1:p.Met159Leu, NP_001284371.1:p.Met159Val, NP_001284370.1:p.Met317Leu, NP_001284370.1:p.Met317Val, XP_005270981.1:p.Met173Leu, XP_005270981.1:p.Met173Val, XP_006710743.1:p.Met187Leu, XP_006710743.1:p.Met187Val, XP_005270982.1:p.Met173Leu, XP_005270982.1:p.Met173Val, XP_016856934.2:p.Met265Leu, XP_016856934.2:p.Met265Val, XP_047278357.1:p.Met173Leu, XP_047278357.1:p.Met173Val

Select item 148195428012.

rs1481954280 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:66368909 (GRCh38)
1:66834592 (GRCh37)
Canonical SPDI:: NC_000001.11:66368908:G:T
Gene:: PDE4B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.66368909G>T, NC_000001.10:g.66834592G>T, NG_029038.1:g.581400G>T, NM_002600.4:c.1785G>T, NM_002600.3:c.1785G>T, NM_001037340.3:c.1740G>T, NM_001037340.2:c.1740G>T, NM_001037340.1:c.1740G>T, NM_001037341.2:c.1785G>T, NM_001037341.1:c.1785G>T, NM_001297440.2:c.1509G>T, NM_001297440.1:c.1509G>T, NM_001037339.2:c.1269G>T, NM_001037339.1:c.1269G>T, NM_001297442.2:c.1086G>T, NM_001297442.1:c.1086G>T, NM_001297441.1:c.1560G>T, XM_005270924.4:c.1128G>T, XM_005270924.3:c.1128G>T, XM_005270924.2:c.1128G>T, XM_005270924.1:c.1128G>T, XM_006710680.4:c.1170G>T, XM_006710680.3:c.1170G>T, XM_006710680.2:c.1170G>T, XM_006710680.1:c.1170G>T, XM_005270925.3:c.1128G>T, XM_005270925.2:c.1128G>T, XM_005270925.1:c.1128G>T, XM_017001445.2:c.1404G>T, XM_017001445.1:c.1368G>T, XM_047422401.1:c.1128G>T, NP_002591.2:p.Glu595Asp, NP_001032417.1:p.Glu580Asp, NP_001032418.1:p.Glu595Asp, NP_001284369.1:p.Glu503Asp, NP_001032416.1:p.Glu423Asp, NP_001284371.1:p.Glu362Asp, NP_001284370.1:p.Glu520Asp, XP_005270981.1:p.Glu376Asp, XP_006710743.1:p.Glu390Asp, XP_005270982.1:p.Glu376Asp, XP_016856934.2:p.Glu468Asp, XP_047278357.1:p.Glu376Asp

Select item 148045741613.

rs1480457416 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CCC [Show Flanks]
Chromosome:: 1:66332317 (GRCh38)
1:66798001 (GRCh37)
Canonical SPDI:: NC_000001.11:66332317:CCC:CCCCCC
Gene:: PDE4B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCC=0./0 (ALFA)
CCC=0.000014/2 (GnomAD)
CCC=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.66332318_66332320dup, NC_000001.10:g.66798001_66798003dup, NG_029038.1:g.544809_544811dup, NM_001037339.2:c.-72_-70dup, NM_001037339.1:c.-72_-70dup

Select item 147957247014.

rs1479572470 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 1:66332368 (GRCh38)
1:66798051 (GRCh37)
Canonical SPDI:: NC_000001.11:66332367:GG:G
Gene:: PDE4B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.66332369del, NC_000001.10:g.66798052del, NG_029038.1:g.544860del, NM_001037339.2:c.-21del, NM_001037339.1:c.-21del