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Select item 14911677151.

rs1491167715 has merged into rs113651659 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGTGTGTGTGTGTG>-,TG,TGTG,TGTGTG,TGTGTGTG,TGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG [Show Flanks]
Chromosome:: 12:125657356 (GRCh38)
12:126141902 (GRCh37)
Canonical SPDI:: NC_000012.12:125657336:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTG,NC_000012.12:125657336:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTG,NC_000012.12:125657336:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTG,NC_000012.12:125657336:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTG,NC_000012.12:125657336:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000012.12:125657336:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000012.12:125657336:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000012.12:125657336:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000012.12:125657336:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000012.12:125657336:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000012.12:125657336:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000012.12:125657336:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000012.12:125657336:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000012.12:125657336:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000012.12:125657336:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000012.12:125657336:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000012.12:125657336:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
Gene:: TMEM132B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGTGTGTGTGTG=0./0 (ALFA)
HGVS:: NC_000012.12:g.125657338TG[9], NC_000012.12:g.125657338TG[10], NC_000012.12:g.125657338TG[11], NC_000012.12:g.125657338TG[12], NC_000012.12:g.125657338TG[13], NC_000012.12:g.125657338TG[14], NC_000012.12:g.125657338TG[15], NC_000012.12:g.125657338TG[17], NC_000012.12:g.125657338TG[18], NC_000012.12:g.125657338TG[19], NC_000012.12:g.125657338TG[20], NC_000012.12:g.125657338TG[21], NC_000012.12:g.125657338TG[22], NC_000012.12:g.125657338TG[23], NC_000012.12:g.125657338TG[24], NC_000012.12:g.125657338TG[25], NC_000012.12:g.125657338TG[26], NC_000012.11:g.126141884TG[9], NC_000012.11:g.126141884TG[10], NC_000012.11:g.126141884TG[11], NC_000012.11:g.126141884TG[12], NC_000012.11:g.126141884TG[13], NC_000012.11:g.126141884TG[14], NC_000012.11:g.126141884TG[15], NC_000012.11:g.126141884TG[17], NC_000012.11:g.126141884TG[18], NC_000012.11:g.126141884TG[19], NC_000012.11:g.126141884TG[20], NC_000012.11:g.126141884TG[21], NC_000012.11:g.126141884TG[22], NC_000012.11:g.126141884TG[23], NC_000012.11:g.126141884TG[24], NC_000012.11:g.126141884TG[25], NC_000012.11:g.126141884TG[26], XM_011537854.3:c.*2628TG[9], XM_011537854.3:c.*2628TG[10], XM_011537854.3:c.*2628TG[11], XM_011537854.3:c.*2628TG[12], XM_011537854.3:c.*2628TG[13], XM_011537854.3:c.*2628TG[14], XM_011537854.3:c.*2628TG[15], XM_011537854.3:c.*2628TG[17], XM_011537854.3:c.*2628TG[18], XM_011537854.3:c.*2628TG[19], XM_011537854.3:c.*2628TG[20], XM_011537854.3:c.*2628TG[21], XM_011537854.3:c.*2628TG[22], XM_011537854.3:c.*2628TG[23], XM_011537854.3:c.*2628TG[24], XM_011537854.3:c.*2628TG[25], XM_011537854.3:c.*2628TG[26], XM_011537854.2:c.*2628TG[9], XM_011537854.2:c.*2628TG[10], XM_011537854.2:c.*2628TG[11], XM_011537854.2:c.*2628TG[12], XM_011537854.2:c.*2628TG[13], XM_011537854.2:c.*2628TG[14], XM_011537854.2:c.*2628TG[15], XM_011537854.2:c.*2628TG[17], XM_011537854.2:c.*2628TG[18], XM_011537854.2:c.*2628TG[19], XM_011537854.2:c.*2628TG[20], XM_011537854.2:c.*2628TG[21], XM_011537854.2:c.*2628TG[22], XM_011537854.2:c.*2628TG[23], XM_011537854.2:c.*2628TG[24], XM_011537854.2:c.*2628TG[25], XM_011537854.2:c.*2628TG[26], XM_011537854.1:c.*2628TG[9], XM_011537854.1:c.*2628TG[10], XM_011537854.1:c.*2628TG[11], XM_011537854.1:c.*2628TG[12], XM_011537854.1:c.*2628TG[13], XM_011537854.1:c.*2628TG[14], XM_011537854.1:c.*2628TG[15], XM_011537854.1:c.*2628TG[17], XM_011537854.1:c.*2628TG[18], XM_011537854.1:c.*2628TG[19], XM_011537854.1:c.*2628TG[20], XM_011537854.1:c.*2628TG[21], XM_011537854.1:c.*2628TG[22], XM_011537854.1:c.*2628TG[23], XM_011537854.1:c.*2628TG[24], XM_011537854.1:c.*2628TG[25], XM_011537854.1:c.*2628TG[26], NM_052907.3:c.*2628TG[9], NM_052907.3:c.*2628TG[10], NM_052907.3:c.*2628TG[11], NM_052907.3:c.*2628TG[12], NM_052907.3:c.*2628TG[13], NM_052907.3:c.*2628TG[14], NM_052907.3:c.*2628TG[15], NM_052907.3:c.*2628TG[17], NM_052907.3:c.*2628TG[18], NM_052907.3:c.*2628TG[19], NM_052907.3:c.*2628TG[20], NM_052907.3:c.*2628TG[21], NM_052907.3:c.*2628TG[22], NM_052907.3:c.*2628TG[23], NM_052907.3:c.*2628TG[24], NM_052907.3:c.*2628TG[25], NM_052907.3:c.*2628TG[26], NM_052907.2:c.*2628TG[9], NM_052907.2:c.*2628TG[10], NM_052907.2:c.*2628TG[11], NM_052907.2:c.*2628TG[12], NM_052907.2:c.*2628TG[13], NM_052907.2:c.*2628TG[14], NM_052907.2:c.*2628TG[15], NM_052907.2:c.*2628TG[17], NM_052907.2:c.*2628TG[18], NM_052907.2:c.*2628TG[19], NM_052907.2:c.*2628TG[20], NM_052907.2:c.*2628TG[21], NM_052907.2:c.*2628TG[22], NM_052907.2:c.*2628TG[23], NM_052907.2:c.*2628TG[24], NM_052907.2:c.*2628TG[25], NM_052907.2:c.*2628TG[26], XM_017018767.2:c.*2628TG[9], XM_017018767.2:c.*2628TG[10], XM_017018767.2:c.*2628TG[11], XM_017018767.2:c.*2628TG[12], XM_017018767.2:c.*2628TG[13], XM_017018767.2:c.*2628TG[14], XM_017018767.2:c.*2628TG[15], XM_017018767.2:c.*2628TG[17], XM_017018767.2:c.*2628TG[18], XM_017018767.2:c.*2628TG[19], XM_017018767.2:c.*2628TG[20], XM_017018767.2:c.*2628TG[21], XM_017018767.2:c.*2628TG[22], XM_017018767.2:c.*2628TG[23], XM_017018767.2:c.*2628TG[24], XM_017018767.2:c.*2628TG[25], XM_017018767.2:c.*2628TG[26], XM_017018767.1:c.*2628TG[9], XM_017018767.1:c.*2628TG[10], XM_017018767.1:c.*2628TG[11], XM_017018767.1:c.*2628TG[12], XM_017018767.1:c.*2628TG[13], XM_017018767.1:c.*2628TG[14], XM_017018767.1:c.*2628TG[15], XM_017018767.1:c.*2628TG[17], XM_017018767.1:c.*2628TG[18], XM_017018767.1:c.*2628TG[19], XM_017018767.1:c.*2628TG[20], XM_017018767.1:c.*2628TG[21], XM_017018767.1:c.*2628TG[22], XM_017018767.1:c.*2628TG[23], XM_017018767.1:c.*2628TG[24], XM_017018767.1:c.*2628TG[25], XM_017018767.1:c.*2628TG[26], NM_001286219.2:c.*2628TG[9], NM_001286219.2:c.*2628TG[10], NM_001286219.2:c.*2628TG[11], NM_001286219.2:c.*2628TG[12], NM_001286219.2:c.*2628TG[13], NM_001286219.2:c.*2628TG[14], NM_001286219.2:c.*2628TG[15], NM_001286219.2:c.*2628TG[17], NM_001286219.2:c.*2628TG[18], NM_001286219.2:c.*2628TG[19], NM_001286219.2:c.*2628TG[20], NM_001286219.2:c.*2628TG[21], NM_001286219.2:c.*2628TG[22], NM_001286219.2:c.*2628TG[23], NM_001286219.2:c.*2628TG[24], NM_001286219.2:c.*2628TG[25], NM_001286219.2:c.*2628TG[26], NM_001286219.1:c.*2628TG[9], NM_001286219.1:c.*2628TG[10], NM_001286219.1:c.*2628TG[11], NM_001286219.1:c.*2628TG[12], NM_001286219.1:c.*2628TG[13], NM_001286219.1:c.*2628TG[14], NM_001286219.1:c.*2628TG[15], NM_001286219.1:c.*2628TG[17], NM_001286219.1:c.*2628TG[18], NM_001286219.1:c.*2628TG[19], NM_001286219.1:c.*2628TG[20], NM_001286219.1:c.*2628TG[21], NM_001286219.1:c.*2628TG[22], NM_001286219.1:c.*2628TG[23], NM_001286219.1:c.*2628TG[24], NM_001286219.1:c.*2628TG[25], NM_001286219.1:c.*2628TG[26], XM_047428239.1:c.*2628TG[9], XM_047428239.1:c.*2628TG[10], XM_047428239.1:c.*2628TG[11], XM_047428239.1:c.*2628TG[12], XM_047428239.1:c.*2628TG[13], XM_047428239.1:c.*2628TG[14], XM_047428239.1:c.*2628TG[15], XM_047428239.1:c.*2628TG[17], XM_047428239.1:c.*2628TG[18], XM_047428239.1:c.*2628TG[19], XM_047428239.1:c.*2628TG[20], XM_047428239.1:c.*2628TG[21], XM_047428239.1:c.*2628TG[22], XM_047428239.1:c.*2628TG[23], XM_047428239.1:c.*2628TG[24], XM_047428239.1:c.*2628TG[25], XM_047428239.1:c.*2628TG[26], XM_047428242.1:c.*2628TG[9], XM_047428242.1:c.*2628TG[10], XM_047428242.1:c.*2628TG[11], XM_047428242.1:c.*2628TG[12], XM_047428242.1:c.*2628TG[13], XM_047428242.1:c.*2628TG[14], XM_047428242.1:c.*2628TG[15], XM_047428242.1:c.*2628TG[17], XM_047428242.1:c.*2628TG[18], XM_047428242.1:c.*2628TG[19], XM_047428242.1:c.*2628TG[20], XM_047428242.1:c.*2628TG[21], XM_047428242.1:c.*2628TG[22], XM_047428242.1:c.*2628TG[23], XM_047428242.1:c.*2628TG[24], XM_047428242.1:c.*2628TG[25], XM_047428242.1:c.*2628TG[26], NM_001366854.1:c.*2628TG[9], NM_001366854.1:c.*2628TG[10], NM_001366854.1:c.*2628TG[11], NM_001366854.1:c.*2628TG[12], NM_001366854.1:c.*2628TG[13], NM_001366854.1:c.*2628TG[14], NM_001366854.1:c.*2628TG[15], NM_001366854.1:c.*2628TG[17], NM_001366854.1:c.*2628TG[18], NM_001366854.1:c.*2628TG[19], NM_001366854.1:c.*2628TG[20], NM_001366854.1:c.*2628TG[21], NM_001366854.1:c.*2628TG[22], NM_001366854.1:c.*2628TG[23], NM_001366854.1:c.*2628TG[24], NM_001366854.1:c.*2628TG[25], NM_001366854.1:c.*2628TG[26], XM_047428241.1:c.*2628TG[9], XM_047428241.1:c.*2628TG[10], XM_047428241.1:c.*2628TG[11], XM_047428241.1:c.*2628TG[12], XM_047428241.1:c.*2628TG[13], XM_047428241.1:c.*2628TG[14], XM_047428241.1:c.*2628TG[15], XM_047428241.1:c.*2628TG[17], XM_047428241.1:c.*2628TG[18], XM_047428241.1:c.*2628TG[19], XM_047428241.1:c.*2628TG[20], XM_047428241.1:c.*2628TG[21], XM_047428241.1:c.*2628TG[22], XM_047428241.1:c.*2628TG[23], XM_047428241.1:c.*2628TG[24], XM_047428241.1:c.*2628TG[25], XM_047428241.1:c.*2628TG[26], XM_047428243.1:c.*2628TG[9], XM_047428243.1:c.*2628TG[10], XM_047428243.1:c.*2628TG[11], XM_047428243.1:c.*2628TG[12], XM_047428243.1:c.*2628TG[13], XM_047428243.1:c.*2628TG[14], XM_047428243.1:c.*2628TG[15], XM_047428243.1:c.*2628TG[17], XM_047428243.1:c.*2628TG[18], XM_047428243.1:c.*2628TG[19], XM_047428243.1:c.*2628TG[20], XM_047428243.1:c.*2628TG[21], XM_047428243.1:c.*2628TG[22], XM_047428243.1:c.*2628TG[23], XM_047428243.1:c.*2628TG[24], XM_047428243.1:c.*2628TG[25], XM_047428243.1:c.*2628TG[26], XM_047428240.1:c.*2628TG[9], XM_047428240.1:c.*2628TG[10], XM_047428240.1:c.*2628TG[11], XM_047428240.1:c.*2628TG[12], XM_047428240.1:c.*2628TG[13], XM_047428240.1:c.*2628TG[14], XM_047428240.1:c.*2628TG[15], XM_047428240.1:c.*2628TG[17], XM_047428240.1:c.*2628TG[18], XM_047428240.1:c.*2628TG[19], XM_047428240.1:c.*2628TG[20], XM_047428240.1:c.*2628TG[21], XM_047428240.1:c.*2628TG[22], XM_047428240.1:c.*2628TG[23], XM_047428240.1:c.*2628TG[24], XM_047428240.1:c.*2628TG[25], XM_047428240.1:c.*2628TG[26], XM_047428244.1:c.*2628TG[9], XM_047428244.1:c.*2628TG[10], XM_047428244.1:c.*2628TG[11], XM_047428244.1:c.*2628TG[12], XM_047428244.1:c.*2628TG[13], XM_047428244.1:c.*2628TG[14], XM_047428244.1:c.*2628TG[15], XM_047428244.1:c.*2628TG[17], XM_047428244.1:c.*2628TG[18], XM_047428244.1:c.*2628TG[19], XM_047428244.1:c.*2628TG[20], XM_047428244.1:c.*2628TG[21], XM_047428244.1:c.*2628TG[22], XM_047428244.1:c.*2628TG[23], XM_047428244.1:c.*2628TG[24], XM_047428244.1:c.*2628TG[25], XM_047428244.1:c.*2628TG[26]

Select item 14908024852.

rs1490802485 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:125658360 (GRCh38)
12:126142906 (GRCh37)
Canonical SPDI:: NC_000012.12:125658359:T:C
Gene:: TMEM132B (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.125658360T>C, NC_000012.11:g.126142906T>C, XM_011537854.3:c.*3650T>C, XM_011537854.2:c.*3650T>C, XM_011537854.1:c.*3650T>C, NM_052907.3:c.*3650T>C, NM_052907.2:c.*3650T>C, XM_017018767.2:c.*3650T>C, XM_017018767.1:c.*3650T>C, NM_001286219.2:c.*3650T>C, NM_001286219.1:c.*3650T>C, XM_047428239.1:c.*3650T>C, XM_047428242.1:c.*3650T>C, NM_001366854.1:c.*3650T>C, XM_047428241.1:c.*3650T>C, XM_047428243.1:c.*3650T>C, XM_047428240.1:c.*3650T>C, XM_047428244.1:c.*3650T>C

Select item 14904197743.

rs1490419774 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:125662297 (GRCh38)
12:126146843 (GRCh37)
Canonical SPDI:: NC_000012.12:125662296:A:G
Gene:: TMEM132B (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.00016/1 (1000Genomes)
HGVS:: NC_000012.12:g.125662297A>G, NC_000012.11:g.126146843A>G, XM_011537854.3:c.*7587A>G, XM_011537854.1:c.*7587A>G, NM_052907.3:c.*7587A>G, XM_017018767.2:c.*7587A>G, NM_001286219.2:c.*7587A>G, NM_001286219.1:c.*7587A>G, XM_047428239.1:c.*7587A>G, XM_047428242.1:c.*7587A>G, NM_001366854.1:c.*7587A>G, XM_047428241.1:c.*7587A>G, XM_047428243.1:c.*7587A>G, XM_047428240.1:c.*7587A>G, XM_047428244.1:c.*7587A>G

Select item 14897904564.

rs1489790456 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 12:125654974 (GRCh38)
12:126139520 (GRCh37)
Canonical SPDI:: NC_000012.12:125654973:C:G,NC_000012.12:125654973:C:T
Gene:: TMEM132B (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.125654974C>G, NC_000012.12:g.125654974C>T, NC_000012.11:g.126139520C>G, NC_000012.11:g.126139520C>T, XM_011537854.3:c.*264C>G, XM_011537854.3:c.*264C>T, XM_011537854.2:c.*264C>G, XM_011537854.2:c.*264C>T, XM_011537854.1:c.*264C>G, XM_011537854.1:c.*264C>T, NM_052907.3:c.*264C>G, NM_052907.3:c.*264C>T, NM_052907.2:c.*264C>G, NM_052907.2:c.*264C>T, XM_017018767.2:c.*264C>G, XM_017018767.2:c.*264C>T, XM_017018767.1:c.*264C>G, XM_017018767.1:c.*264C>T, NM_001286219.2:c.*264C>G, NM_001286219.2:c.*264C>T, NM_001286219.1:c.*264C>G, NM_001286219.1:c.*264C>T, XM_047428239.1:c.*264C>G, XM_047428239.1:c.*264C>T, XM_047428242.1:c.*264C>G, XM_047428242.1:c.*264C>T, NM_001366854.1:c.*264C>G, NM_001366854.1:c.*264C>T, XM_047428241.1:c.*264C>G, XM_047428241.1:c.*264C>T, XM_047428243.1:c.*264C>G, XM_047428243.1:c.*264C>T, XM_047428240.1:c.*264C>G, XM_047428240.1:c.*264C>T, XM_047428244.1:c.*264C>G, XM_047428244.1:c.*264C>T

Select item 14897516195.

rs1489751619 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:125660065 (GRCh38)
12:126144611 (GRCh37)
Canonical SPDI:: NC_000012.12:125660064:A:G
Gene:: TMEM132B (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_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_000012.12:g.125660065A>G, NC_000012.11:g.126144611A>G, XM_011537854.3:c.*5355A>G, XM_011537854.2:c.*5355A>G, XM_011537854.1:c.*5355A>G, NM_052907.3:c.*5355A>G, XM_017018767.2:c.*5355A>G, XM_017018767.1:c.*5355A>G, NM_001286219.2:c.*5355A>G, NM_001286219.1:c.*5355A>G, XM_047428239.1:c.*5355A>G, XM_047428242.1:c.*5355A>G, NM_001366854.1:c.*5355A>G, XM_047428241.1:c.*5355A>G, XM_047428243.1:c.*5355A>G, XM_047428240.1:c.*5355A>G, XM_047428244.1:c.*5355A>G

Select item 14897444916.

rs1489744491 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 12:125656926 (GRCh38)
12:126141472 (GRCh37)
Canonical SPDI:: NC_000012.12:125656925:A:C
Gene:: TMEM132B (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000159/3 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000242/34 (GnomAD)
C=0.00067/3 (Estonian)
HGVS:: NC_000012.12:g.125656926A>C, NC_000012.11:g.126141472A>C, XM_011537854.3:c.*2216A>C, XM_011537854.2:c.*2216A>C, XM_011537854.1:c.*2216A>C, NM_052907.3:c.*2216A>C, NM_052907.2:c.*2216A>C, XM_017018767.2:c.*2216A>C, XM_017018767.1:c.*2216A>C, NM_001286219.2:c.*2216A>C, NM_001286219.1:c.*2216A>C, XM_047428239.1:c.*2216A>C, XM_047428242.1:c.*2216A>C, NM_001366854.1:c.*2216A>C, XM_047428241.1:c.*2216A>C, XM_047428243.1:c.*2216A>C, XM_047428240.1:c.*2216A>C, XM_047428244.1:c.*2216A>C

Select item 14882194057.

rs1488219405 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 12:125656967 (GRCh38)
12:126141513 (GRCh37)
Canonical SPDI:: NC_000012.12:125656966:GGGGG:GGGG
Gene:: TMEM132B (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GGGG=0.000071/1 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.125656971del, NC_000012.11:g.126141517del, XM_011537854.3:c.*2261del, XM_011537854.2:c.*2261del, XM_011537854.1:c.*2261del, NM_052907.3:c.*2261del, NM_052907.2:c.*2261del, XM_017018767.2:c.*2261del, XM_017018767.1:c.*2261del, NM_001286219.2:c.*2261del, NM_001286219.1:c.*2261del, XM_047428239.1:c.*2261del, XM_047428242.1:c.*2261del, NM_001366854.1:c.*2261del, XM_047428241.1:c.*2261del, XM_047428243.1:c.*2261del, XM_047428240.1:c.*2261del, XM_047428244.1:c.*2261del

Select item 14881638158.

rs1488163815 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:125415617 (GRCh38)
12:125900163 (GRCh37)
Canonical SPDI:: NC_000012.12:125415616:G:A
Gene:: TMEM132B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.125415617G>A, NC_000012.11:g.125900163G>A, NM_052907.3:c.1031G>A, NM_052907.2:c.1031G>A, XM_017018767.2:c.701G>A, XM_017018767.1:c.701G>A, XM_047428239.1:c.701G>A, XM_047428242.1:c.701G>A, NM_001366854.1:c.1046G>A, XM_047428241.1:c.701G>A, XM_047428243.1:c.701G>A, XM_047428240.1:c.701G>A, XM_047428244.1:c.-32G>A, XM_047428245.1:c.1046G>A, NP_443139.2:p.Gly344Asp, XP_016874256.1:p.Gly234Asp, XP_047284195.1:p.Gly234Asp, XP_047284198.1:p.Gly234Asp, NP_001353783.1:p.Gly349Asp, XP_047284197.1:p.Gly234Asp, XP_047284199.1:p.Gly234Asp, XP_047284196.1:p.Gly234Asp, XP_047284201.1:p.Gly349Asp

Select item 14878811229.

rs1487881122 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 12:125656515 (GRCh38)
12:126141061 (GRCh37)
Canonical SPDI:: NC_000012.12:125656514:C:G,NC_000012.12:125656514:C:T
Gene:: TMEM132B (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000012.12:g.125656515C>G, NC_000012.12:g.125656515C>T, NC_000012.11:g.126141061C>G, NC_000012.11:g.126141061C>T, XM_011537854.3:c.*1805C>G, XM_011537854.3:c.*1805C>T, XM_011537854.2:c.*1805C>G, XM_011537854.2:c.*1805C>T, XM_011537854.1:c.*1805C>G, XM_011537854.1:c.*1805C>T, NM_052907.3:c.*1805C>G, NM_052907.3:c.*1805C>T, NM_052907.2:c.*1805C>G, NM_052907.2:c.*1805C>T, XM_017018767.2:c.*1805C>G, XM_017018767.2:c.*1805C>T, XM_017018767.1:c.*1805C>G, XM_017018767.1:c.*1805C>T, NM_001286219.2:c.*1805C>G, NM_001286219.2:c.*1805C>T, NM_001286219.1:c.*1805C>G, NM_001286219.1:c.*1805C>T, XM_047428239.1:c.*1805C>G, XM_047428239.1:c.*1805C>T, XM_047428242.1:c.*1805C>G, XM_047428242.1:c.*1805C>T, NM_001366854.1:c.*1805C>G, NM_001366854.1:c.*1805C>T, XM_047428241.1:c.*1805C>G, XM_047428241.1:c.*1805C>T, XM_047428243.1:c.*1805C>G, XM_047428243.1:c.*1805C>T, XM_047428240.1:c.*1805C>G, XM_047428240.1:c.*1805C>T, XM_047428244.1:c.*1805C>G, XM_047428244.1:c.*1805C>T

Select item 148781025310.

rs1487810253 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:125661762 (GRCh38)
12:126146308 (GRCh37)
Canonical SPDI:: NC_000012.12:125661761:A:G
Gene:: TMEM132B (Varview)
Functional Consequence:: 3_prime_UTR_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_000012.12:g.125661762A>G, NC_000012.11:g.126146308A>G, XM_011537854.3:c.*7052A>G, XM_011537854.1:c.*7052A>G, NM_052907.3:c.*7052A>G, XM_017018767.2:c.*7052A>G, NM_001286219.2:c.*7052A>G, NM_001286219.1:c.*7052A>G, XM_047428239.1:c.*7052A>G, XM_047428242.1:c.*7052A>G, NM_001366854.1:c.*7052A>G, XM_047428241.1:c.*7052A>G, XM_047428243.1:c.*7052A>G, XM_047428240.1:c.*7052A>G, XM_047428244.1:c.*7052A>G

Select item 148778678811.

rs1487786788 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:125654791 (GRCh38)
12:126139337 (GRCh37)
Canonical SPDI:: NC_000012.12:125654790:G:T
Gene:: TMEM132B (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.125654791G>T, NC_000012.11:g.126139337G>T, XM_011537854.3:c.*81G>T, XM_011537854.2:c.*81G>T, XM_011537854.1:c.*81G>T, NM_052907.3:c.*81G>T, NM_052907.2:c.*81G>T, XM_017018767.2:c.*81G>T, XM_017018767.1:c.*81G>T, NM_001286219.2:c.*81G>T, NM_001286219.1:c.*81G>T, XM_047428239.1:c.*81G>T, XM_047428242.1:c.*81G>T, NM_001366854.1:c.*81G>T, XM_047428241.1:c.*81G>T, XM_047428243.1:c.*81G>T, XM_047428240.1:c.*81G>T, XM_047428244.1:c.*81G>T

Select item 148778554212.

rs1487785542 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:125661014 (GRCh38)
12:126145560 (GRCh37)
Canonical SPDI:: NC_000012.12:125661013:G:C
Gene:: TMEM132B (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.125661014G>C, NC_000012.11:g.126145560G>C, XM_011537854.3:c.*6304G>C, XM_011537854.1:c.*6304G>C, NM_052907.3:c.*6304G>C, XM_017018767.2:c.*6304G>C, NM_001286219.2:c.*6304G>C, NM_001286219.1:c.*6304G>C, XM_047428239.1:c.*6304G>C, XM_047428242.1:c.*6304G>C, NM_001366854.1:c.*6304G>C, XM_047428241.1:c.*6304G>C, XM_047428243.1:c.*6304G>C, XM_047428240.1:c.*6304G>C, XM_047428244.1:c.*6304G>C

Select item 148775155413.

rs1487751554 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:125654278 (GRCh38)
12:126138824 (GRCh37)
Canonical SPDI:: NC_000012.12:125654277:G:A
Gene:: TMEM132B (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000012.12:g.125654278G>A, NC_000012.11:g.126138824G>A, XM_011537854.3:c.1341G>A, XM_011537854.2:c.1341G>A, XM_011537854.1:c.1341G>A, NM_052907.3:c.2805G>A, NM_052907.2:c.2805G>A, XM_017018767.2:c.2475G>A, XM_017018767.1:c.2475G>A, NM_001286219.2:c.1341G>A, NM_001286219.1:c.1341G>A, XM_047428239.1:c.2475G>A, XM_047428242.1:c.2475G>A, NM_001366854.1:c.2820G>A, XM_047428241.1:c.2475G>A, XM_047428243.1:c.2475G>A, XM_047428240.1:c.2475G>A, XM_047428244.1:c.1743G>A

Select item 148765689014.

rs1487656890 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 12:125657837 (GRCh38)
12:126142383 (GRCh37)
Canonical SPDI:: NC_000012.12:125657836:A:T
Gene:: TMEM132B (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.125657837A>T, NC_000012.11:g.126142383A>T, XM_011537854.3:c.*3127A>T, XM_011537854.2:c.*3127A>T, XM_011537854.1:c.*3127A>T, NM_052907.3:c.*3127A>T, NM_052907.2:c.*3127A>T, XM_017018767.2:c.*3127A>T, XM_017018767.1:c.*3127A>T, NM_001286219.2:c.*3127A>T, NM_001286219.1:c.*3127A>T, XM_047428239.1:c.*3127A>T, XM_047428242.1:c.*3127A>T, NM_001366854.1:c.*3127A>T, XM_047428241.1:c.*3127A>T, XM_047428243.1:c.*3127A>T, XM_047428240.1:c.*3127A>T, XM_047428244.1:c.*3127A>T

Select item 148761788015.

rs1487617880 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 12:125657271 (GRCh38)
12:126141817 (GRCh37)
Canonical SPDI:: NC_000012.12:125657270:G:A,NC_000012.12:125657270:G:C
Gene:: TMEM132B (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000012.12:g.125657271G>A, NC_000012.12:g.125657271G>C, NC_000012.11:g.126141817G>A, NC_000012.11:g.126141817G>C, XM_011537854.3:c.*2561G>A, XM_011537854.3:c.*2561G>C, XM_011537854.2:c.*2561G>A, XM_011537854.2:c.*2561G>C, XM_011537854.1:c.*2561G>A, XM_011537854.1:c.*2561G>C, NM_052907.3:c.*2561G>A, NM_052907.3:c.*2561G>C, NM_052907.2:c.*2561G>A, NM_052907.2:c.*2561G>C, XM_017018767.2:c.*2561G>A, XM_017018767.2:c.*2561G>C, XM_017018767.1:c.*2561G>A, XM_017018767.1:c.*2561G>C, NM_001286219.2:c.*2561G>A, NM_001286219.2:c.*2561G>C, NM_001286219.1:c.*2561G>A, NM_001286219.1:c.*2561G>C, XM_047428239.1:c.*2561G>A, XM_047428239.1:c.*2561G>C, XM_047428242.1:c.*2561G>A, XM_047428242.1:c.*2561G>C, NM_001366854.1:c.*2561G>A, NM_001366854.1:c.*2561G>C, XM_047428241.1:c.*2561G>A, XM_047428241.1:c.*2561G>C, XM_047428243.1:c.*2561G>A, XM_047428243.1:c.*2561G>C, XM_047428240.1:c.*2561G>A, XM_047428240.1:c.*2561G>C, XM_047428244.1:c.*2561G>A, XM_047428244.1:c.*2561G>C

Select item 148748446916.

rs1487484469 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:125656323 (GRCh38)
12:126140869 (GRCh37)
Canonical SPDI:: NC_000012.12:125656322:A:G
Gene:: TMEM132B (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.125656323A>G, NC_000012.11:g.126140869A>G, XM_011537854.3:c.*1613A>G, XM_011537854.2:c.*1613A>G, XM_011537854.1:c.*1613A>G, NM_052907.3:c.*1613A>G, NM_052907.2:c.*1613A>G, XM_017018767.2:c.*1613A>G, XM_017018767.1:c.*1613A>G, NM_001286219.2:c.*1613A>G, NM_001286219.1:c.*1613A>G, XM_047428239.1:c.*1613A>G, XM_047428242.1:c.*1613A>G, NM_001366854.1:c.*1613A>G, XM_047428241.1:c.*1613A>G, XM_047428243.1:c.*1613A>G, XM_047428240.1:c.*1613A>G, XM_047428244.1:c.*1613A>G

Select item 148723830917.

rs1487238309 [Homo sapiens]

Variant type:: SNV:
Alleles:: C>T
Chromosome:: no mapping
Canonical SPDI:

Select item 148652764718.

rs1486527647 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:125644195 (GRCh38)
12:126128741 (GRCh37)
Canonical SPDI:: NC_000012.12:125644194:A:G
Gene:: TMEM132B (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.125644195A>G, NC_000012.11:g.126128741A>G, XM_011537854.3:c.78A>G, XM_011537854.2:c.78A>G, XM_011537854.1:c.78A>G, NM_052907.3:c.1542A>G, NM_052907.2:c.1542A>G, XM_017018767.2:c.1212A>G, XM_017018767.1:c.1212A>G, NM_001286219.2:c.78A>G, NM_001286219.1:c.78A>G, XM_047428239.1:c.1212A>G, XM_047428242.1:c.1212A>G, NM_001366854.1:c.1557A>G, XM_047428241.1:c.1212A>G, XM_047428243.1:c.1212A>G, XM_047428240.1:c.1212A>G, XM_047428244.1:c.480A>G

Select item 148598486019.

rs1485984860 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:125657694 (GRCh38)
12:126142240 (GRCh37)
Canonical SPDI:: NC_000012.12:125657693:G:T
Gene:: TMEM132B (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000012.12:g.125657694G>T, NC_000012.11:g.126142240G>T, XM_011537854.3:c.*2984G>T, XM_011537854.2:c.*2984G>T, XM_011537854.1:c.*2984G>T, NM_052907.3:c.*2984G>T, NM_052907.2:c.*2984G>T, XM_017018767.2:c.*2984G>T, XM_017018767.1:c.*2984G>T, NM_001286219.2:c.*2984G>T, NM_001286219.1:c.*2984G>T, XM_047428239.1:c.*2984G>T, XM_047428242.1:c.*2984G>T, NM_001366854.1:c.*2984G>T, XM_047428241.1:c.*2984G>T, XM_047428243.1:c.*2984G>T, XM_047428240.1:c.*2984G>T, XM_047428244.1:c.*2984G>T

Select item 148584710020.

rs1485847100 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:125659702 (GRCh38)
12:126144248 (GRCh37)
Canonical SPDI:: NC_000012.12:125659701:G:A
Gene:: TMEM132B (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.125659702G>A, NC_000012.11:g.126144248G>A, XM_011537854.3:c.*4992G>A, XM_011537854.2:c.*4992G>A, XM_011537854.1:c.*4992G>A, NM_052907.3:c.*4992G>A, XM_017018767.2:c.*4992G>A, XM_017018767.1:c.*4992G>A, NM_001286219.2:c.*4992G>A, NM_001286219.1:c.*4992G>A, XM_047428239.1:c.*4992G>A, XM_047428242.1:c.*4992G>A, NM_001366854.1:c.*4992G>A, XM_047428241.1:c.*4992G>A, XM_047428243.1:c.*4992G>A, XM_047428240.1:c.*4992G>A, XM_047428244.1:c.*4992G>A

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