SNP Links for Nucleotide (Select 46592955) - SNP

Select item 14908666181.

rs1490866618 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:42282330 (GRCh38)
21:43702440 (GRCh37)
Canonical SPDI:: NC_000021.9:42282329:G:A
Gene:: ABCG1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.42282330G>A, NC_000021.8:g.43702440G>A, XM_011529807.4:c.678G>A, XM_011529807.3:c.678G>A, XM_011529807.2:c.678G>A, XM_011529807.1:c.678G>A, NM_004915.4:c.645G>A, NM_004915.3:c.645G>A, NM_016818.3:c.645G>A, NM_016818.2:c.645G>A, XM_024452141.2:c.969G>A, XM_024452141.1:c.969G>A, NM_207627.2:c.651G>A, NM_207627.1:c.651G>A, XM_011529806.2:c.678G>A, XM_011529806.1:c.678G>A, NM_207629.2:c.636G>A, NM_207629.1:c.636G>A, NM_207630.1:c.1083G>A, NM_207628.1:c.579G>A, XM_047441054.1:c.645G>A, XM_047441055.1:c.645G>A, XM_047441053.1:c.678G>A, NM_207174.1:c.678G>A

Select item 14888916752.

rs1488891675 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:42296380 (GRCh38)
21:43716490 (GRCh37)
Canonical SPDI:: NC_000021.9:42296379:G:A
Gene:: ABCG1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.42296380G>A, NC_000021.8:g.43716490G>A, XM_011529807.4:c.*154G>A, XM_011529807.3:c.*154G>A, XM_011529807.2:c.*154G>A, XM_011529807.1:c.*154G>A, NM_004915.4:c.2025G>A, NM_004915.3:c.2025G>A, NM_016818.3:c.1989G>A, NM_016818.2:c.1989G>A, XM_024452141.2:c.2349G>A, XM_024452141.1:c.2349G>A, NM_207627.2:c.1995G>A, NM_207627.1:c.1995G>A, XM_011529806.2:c.2058G>A, XM_011529806.1:c.2058G>A, NM_207629.2:c.1980G>A, NM_207629.1:c.1980G>A, NM_207630.1:c.2463G>A, NM_207628.1:c.1923G>A, XM_047441054.1:c.*154G>A, XM_047441055.1:c.*154G>A, XM_047441053.1:c.*154G>A, NM_207174.1:c.2022G>A

Select item 14882573503.

rs1488257350 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:42282324 (GRCh38)
21:43702434 (GRCh37)
Canonical SPDI:: NC_000021.9:42282323:G:A
Gene:: ABCG1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.42282324G>A, NC_000021.8:g.43702434G>A, XM_011529807.4:c.672G>A, XM_011529807.3:c.672G>A, XM_011529807.2:c.672G>A, XM_011529807.1:c.672G>A, NM_004915.4:c.639G>A, NM_004915.3:c.639G>A, NM_016818.3:c.639G>A, NM_016818.2:c.639G>A, XM_024452141.2:c.963G>A, XM_024452141.1:c.963G>A, NM_207627.2:c.645G>A, NM_207627.1:c.645G>A, XM_011529806.2:c.672G>A, XM_011529806.1:c.672G>A, NM_207629.2:c.630G>A, NM_207629.1:c.630G>A, NM_207630.1:c.1077G>A, NM_207628.1:c.573G>A, XM_047441054.1:c.639G>A, XM_047441055.1:c.639G>A, XM_047441053.1:c.672G>A, NM_207174.1:c.672G>A

Select item 14868082984.

rs1486808298 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:42296519 (GRCh38)
21:43716629 (GRCh37)
Canonical SPDI:: NC_000021.9:42296518:T:C
Gene:: ABCG1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
C=0.000685/2 (KOREAN)
HGVS:: NC_000021.9:g.42296519T>C, NC_000021.8:g.43716629T>C, XM_011529807.4:c.*293T>C, XM_011529807.3:c.*293T>C, XM_011529807.2:c.*293T>C, XM_011529807.1:c.*293T>C, NM_004915.4:c.*127T>C, NM_004915.3:c.*127T>C, NM_016818.3:c.*127T>C, NM_016818.2:c.*127T>C, XM_024452141.2:c.*127T>C, XM_024452141.1:c.*127T>C, NM_207627.2:c.*127T>C, NM_207627.1:c.*127T>C, XM_011529806.2:c.*127T>C, XM_011529806.1:c.*127T>C, NM_207629.2:c.*127T>C, NM_207629.1:c.*127T>C, NM_207630.1:c.*127T>C, NM_207628.1:c.*127T>C, XM_047441054.1:c.*293T>C, XM_047441055.1:c.*293T>C, XM_047441053.1:c.*293T>C, NM_207174.1:c.*127T>C

Select item 14867784995.

rs1486778499 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 21:42285934 (GRCh38)
21:43706044 (GRCh37)
Canonical SPDI:: NC_000021.9:42285933:G:A,NC_000021.9:42285933:G:T
Gene:: ABCG1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.42285934G>A, NC_000021.9:g.42285934G>T, NC_000021.8:g.43706044G>A, NC_000021.8:g.43706044G>T, XM_011529807.4:c.946G>A, XM_011529807.4:c.946G>T, XM_011529807.3:c.946G>A, XM_011529807.3:c.946G>T, XM_011529807.2:c.946G>A, XM_011529807.2:c.946G>T, XM_011529807.1:c.946G>A, XM_011529807.1:c.946G>T, NM_004915.4:c.913G>A, NM_004915.4:c.913G>T, NM_004915.3:c.913G>A, NM_004915.3:c.913G>T, NM_016818.3:c.913G>A, NM_016818.3:c.913G>T, NM_016818.2:c.913G>A, NM_016818.2:c.913G>T, XM_024452141.2:c.1237G>A, XM_024452141.2:c.1237G>T, XM_024452141.1:c.1237G>A, XM_024452141.1:c.1237G>T, NM_207627.2:c.919G>A, NM_207627.2:c.919G>T, NM_207627.1:c.919G>A, NM_207627.1:c.919G>T, XM_011529806.2:c.946G>A, XM_011529806.2:c.946G>T, XM_011529806.1:c.946G>A, XM_011529806.1:c.946G>T, NM_207629.2:c.904G>A, NM_207629.2:c.904G>T, NM_207629.1:c.904G>A, NM_207629.1:c.904G>T, NM_207630.1:c.1351G>A, NM_207630.1:c.1351G>T, NM_207628.1:c.847G>A, NM_207628.1:c.847G>T, XM_047441054.1:c.913G>A, XM_047441054.1:c.913G>T, XM_047441055.1:c.913G>A, XM_047441055.1:c.913G>T, XM_047441053.1:c.946G>A, XM_047441053.1:c.946G>T, NM_207174.1:c.946G>A, NM_207174.1:c.946G>T, XP_011528109.1:p.Val316Met, XP_011528109.1:p.Val316Leu, NP_004906.3:p.Val305Met, NP_004906.3:p.Val305Leu, NP_058198.2:p.Val305Met, NP_058198.2:p.Val305Leu, XP_024307909.1:p.Val413Met, XP_024307909.1:p.Val413Leu, NP_997510.1:p.Val307Met, NP_997510.1:p.Val307Leu, XP_011528108.1:p.Val316Met, XP_011528108.1:p.Val316Leu, NP_997512.1:p.Val302Met, NP_997512.1:p.Val302Leu, NP_997511.1:p.Val283Met, NP_997511.1:p.Val283Leu, XP_047297010.1:p.Val305Met, XP_047297010.1:p.Val305Leu, XP_047297011.1:p.Val305Met, XP_047297011.1:p.Val305Leu, XP_047297009.1:p.Val316Met, XP_047297009.1:p.Val316Leu, NP_997057.1:p.Val316Met, NP_997057.1:p.Val316Leu

Select item 14863393386.

rs1486339338 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 21:42284591 (GRCh38)
21:43704701 (GRCh37)
Canonical SPDI:: NC_000021.9:42284590:G:C
Gene:: ABCG1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.42284591G>C, NC_000021.8:g.43704701G>C, XM_011529807.4:c.799G>C, XM_011529807.3:c.799G>C, XM_011529807.2:c.799G>C, XM_011529807.1:c.799G>C, NM_004915.4:c.766G>C, NM_004915.3:c.766G>C, NM_016818.3:c.766G>C, NM_016818.2:c.766G>C, XM_024452141.2:c.1090G>C, XM_024452141.1:c.1090G>C, NM_207627.2:c.772G>C, NM_207627.1:c.772G>C, XM_011529806.2:c.799G>C, XM_011529806.1:c.799G>C, NM_207629.2:c.757G>C, NM_207629.1:c.757G>C, NM_207630.1:c.1204G>C, NM_207628.1:c.700G>C, XM_047441054.1:c.766G>C, XM_047441055.1:c.766G>C, XM_047441053.1:c.799G>C, NM_207174.1:c.799G>C, XP_011528109.1:p.Val267Leu, NP_004906.3:p.Val256Leu, NP_058198.2:p.Val256Leu, XP_024307909.1:p.Val364Leu, NP_997510.1:p.Val258Leu, XP_011528108.1:p.Val267Leu, NP_997512.1:p.Val253Leu, NP_997511.1:p.Val234Leu, XP_047297010.1:p.Val256Leu, XP_047297011.1:p.Val256Leu, XP_047297009.1:p.Val267Leu, NP_997057.1:p.Val267Leu

Select item 14856767117.

rs1485676711 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 21:42296506 (GRCh38)
21:43716616 (GRCh37)
Canonical SPDI:: NC_000021.9:42296505:C:A,NC_000021.9:42296505:C:T
Gene:: ABCG1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
T=0.00034/1 (KOREAN)
HGVS:: NC_000021.9:g.42296506C>A, NC_000021.9:g.42296506C>T, NC_000021.8:g.43716616C>A, NC_000021.8:g.43716616C>T, XM_011529807.4:c.*280C>A, XM_011529807.4:c.*280C>T, XM_011529807.3:c.*280C>A, XM_011529807.3:c.*280C>T, XM_011529807.2:c.*280C>A, XM_011529807.2:c.*280C>T, XM_011529807.1:c.*280C>A, XM_011529807.1:c.*280C>T, NM_004915.4:c.*114C>A, NM_004915.4:c.*114C>T, NM_004915.3:c.*114C>A, NM_004915.3:c.*114C>T, NM_016818.3:c.*114C>A, NM_016818.3:c.*114C>T, NM_016818.2:c.*114C>A, NM_016818.2:c.*114C>T, XM_024452141.2:c.*114C>A, XM_024452141.2:c.*114C>T, XM_024452141.1:c.*114C>A, XM_024452141.1:c.*114C>T, NM_207627.2:c.*114C>A, NM_207627.2:c.*114C>T, NM_207627.1:c.*114C>A, NM_207627.1:c.*114C>T, XM_011529806.2:c.*114C>A, XM_011529806.2:c.*114C>T, XM_011529806.1:c.*114C>A, XM_011529806.1:c.*114C>T, NM_207629.2:c.*114C>A, NM_207629.2:c.*114C>T, NM_207629.1:c.*114C>A, NM_207629.1:c.*114C>T, NM_207630.1:c.*114C>A, NM_207630.1:c.*114C>T, NM_207628.1:c.*114C>A, NM_207628.1:c.*114C>T, XM_047441054.1:c.*280C>A, XM_047441054.1:c.*280C>T, XM_047441055.1:c.*280C>A, XM_047441055.1:c.*280C>T, XM_047441053.1:c.*280C>A, XM_047441053.1:c.*280C>T, NM_207174.1:c.*114C>A, NM_207174.1:c.*114C>T

Select item 14844327148.

rs1484432714 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 21:42296433 (GRCh38)
21:43716543 (GRCh37)
Canonical SPDI:: NC_000021.9:42296432:G:T
Gene:: ABCG1 (Varview)
Functional Consequence:: 3_prime_UTR_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_000021.9:g.42296433G>T, NC_000021.8:g.43716543G>T, XM_011529807.4:c.*207G>T, XM_011529807.3:c.*207G>T, XM_011529807.2:c.*207G>T, XM_011529807.1:c.*207G>T, NM_004915.4:c.*41G>T, NM_004915.3:c.*41G>T, NM_016818.3:c.*41G>T, NM_016818.2:c.*41G>T, XM_024452141.2:c.*41G>T, XM_024452141.1:c.*41G>T, NM_207627.2:c.*41G>T, NM_207627.1:c.*41G>T, XM_011529806.2:c.*41G>T, XM_011529806.1:c.*41G>T, NM_207629.2:c.*41G>T, NM_207629.1:c.*41G>T, NM_207630.1:c.*41G>T, NM_207628.1:c.*41G>T, XM_047441054.1:c.*207G>T, XM_047441055.1:c.*207G>T, XM_047441053.1:c.*207G>T, NM_207174.1:c.*41G>T

Select item 14834120469.

rs1483412046 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:42288022 (GRCh38)
21:43708132 (GRCh37)
Canonical SPDI:: NC_000021.9:42288021:C:T
Gene:: ABCG1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000021.9:g.42288022C>T, NC_000021.8:g.43708132C>T, XM_011529807.4:c.1140C>T, XM_011529807.3:c.1140C>T, XM_011529807.2:c.1140C>T, XM_011529807.1:c.1140C>T, NM_004915.4:c.1107C>T, NM_004915.3:c.1107C>T, NM_016818.3:c.1107C>T, NM_016818.2:c.1107C>T, XM_024452141.2:c.1431C>T, XM_024452141.1:c.1431C>T, NM_207627.2:c.1113C>T, NM_207627.1:c.1113C>T, XM_011529806.2:c.1140C>T, XM_011529806.1:c.1140C>T, NM_207629.2:c.1098C>T, NM_207629.1:c.1098C>T, NM_207630.1:c.1545C>T, NM_207628.1:c.1041C>T, XM_047441054.1:c.1107C>T, XM_047441055.1:c.1107C>T, XM_047441053.1:c.1140C>T, NM_207174.1:c.1140C>T

Select item 148252773510.

rs1482527735 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:42296416 (GRCh38)
21:43716526 (GRCh37)
Canonical SPDI:: NC_000021.9:42296415:G:A
Gene:: ABCG1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.42296416G>A, NC_000021.8:g.43716526G>A, XM_011529807.4:c.*190G>A, XM_011529807.3:c.*190G>A, XM_011529807.2:c.*190G>A, XM_011529807.1:c.*190G>A, NM_004915.4:c.*24G>A, NM_004915.3:c.*24G>A, NM_016818.3:c.*24G>A, NM_016818.2:c.*24G>A, XM_024452141.2:c.*24G>A, XM_024452141.1:c.*24G>A, NM_207627.2:c.*24G>A, NM_207627.1:c.*24G>A, XM_011529806.2:c.*24G>A, XM_011529806.1:c.*24G>A, NM_207629.2:c.*24G>A, NM_207629.1:c.*24G>A, NM_207630.1:c.*24G>A, NM_207628.1:c.*24G>A, XM_047441054.1:c.*190G>A, XM_047441055.1:c.*190G>A, XM_047441053.1:c.*190G>A, NM_207174.1:c.*24G>A

Select item 148228780311.

rs1482287803 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 21:42219927 (GRCh38)
21:43640037 (GRCh37)
Canonical SPDI:: NC_000021.9:42219926:C:A,NC_000021.9:42219926:C:G
Gene:: ABCG1 (Varview), LOC105372814 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.42219927C>A, NC_000021.9:g.42219927C>G, NC_000021.8:g.43640037C>A, NC_000021.8:g.43640037C>G, XM_011529807.4:c.-45C>A, XM_011529807.4:c.-45C>G, XM_011529807.3:c.-45C>A, XM_011529807.3:c.-45C>G, XM_011529807.2:c.-45C>A, XM_011529807.2:c.-45C>G, XM_011529807.1:c.-45C>A, XM_011529807.1:c.-45C>G, XM_011529806.2:c.-45C>A, XM_011529806.2:c.-45C>G, XM_011529806.1:c.-45C>A, XM_011529806.1:c.-45C>G, XM_047441053.1:c.-45C>A, XM_047441053.1:c.-45C>G, NM_207174.1:c.-45C>A, NM_207174.1:c.-45C>G

Select item 147817218812.

rs1478172188 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:42285948 (GRCh38)
21:43706058 (GRCh37)
Canonical SPDI:: NC_000021.9:42285947:G:A
Gene:: ABCG1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.42285948G>A, NC_000021.8:g.43706058G>A, XM_011529807.4:c.960G>A, XM_011529807.3:c.960G>A, XM_011529807.2:c.960G>A, XM_011529807.1:c.960G>A, NM_004915.4:c.927G>A, NM_004915.3:c.927G>A, NM_016818.3:c.927G>A, NM_016818.2:c.927G>A, XM_024452141.2:c.1251G>A, XM_024452141.1:c.1251G>A, NM_207627.2:c.933G>A, NM_207627.1:c.933G>A, XM_011529806.2:c.960G>A, XM_011529806.1:c.960G>A, NM_207629.2:c.918G>A, NM_207629.1:c.918G>A, NM_207630.1:c.1365G>A, NM_207628.1:c.861G>A, XM_047441054.1:c.927G>A, XM_047441055.1:c.927G>A, XM_047441053.1:c.960G>A, NM_207174.1:c.960G>A

Select item 147765408213.

rs1477654082 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 21:42296779 (GRCh38)
21:43716889 (GRCh37)
Canonical SPDI:: NC_000021.9:42296778:G:C
Gene:: ABCG1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.42296779G>C, NC_000021.8:g.43716889G>C, XM_011529807.4:c.*553G>C, XM_011529807.3:c.*553G>C, XM_011529807.2:c.*553G>C, XM_011529807.1:c.*553G>C, NM_004915.4:c.*387G>C, NM_004915.3:c.*387G>C, NM_016818.3:c.*387G>C, NM_016818.2:c.*387G>C, XM_024452141.2:c.*387G>C, XM_024452141.1:c.*387G>C, NM_207627.2:c.*387G>C, NM_207627.1:c.*387G>C, XM_011529806.2:c.*387G>C, XM_011529806.1:c.*387G>C, NM_207629.2:c.*387G>C, NM_207629.1:c.*387G>C, NM_207630.1:c.*387G>C, NM_207628.1:c.*387G>C, XM_047441054.1:c.*553G>C, XM_047441055.1:c.*553G>C, XM_047441053.1:c.*553G>C, NM_207174.1:c.*387G>C

Select item 147762615014.

rs1477626150 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:42285962 (GRCh38)
21:43706072 (GRCh37)
Canonical SPDI:: NC_000021.9:42285961:A:G
Gene:: ABCG1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.42285962A>G, NC_000021.8:g.43706072A>G, XM_011529807.4:c.974A>G, XM_011529807.3:c.974A>G, XM_011529807.2:c.974A>G, XM_011529807.1:c.974A>G, NM_004915.4:c.941A>G, NM_004915.3:c.941A>G, NM_016818.3:c.941A>G, NM_016818.2:c.941A>G, XM_024452141.2:c.1265A>G, XM_024452141.1:c.1265A>G, NM_207627.2:c.947A>G, NM_207627.1:c.947A>G, XM_011529806.2:c.974A>G, XM_011529806.1:c.974A>G, NM_207629.2:c.932A>G, NM_207629.1:c.932A>G, NM_207630.1:c.1379A>G, NM_207628.1:c.875A>G, XM_047441054.1:c.941A>G, XM_047441055.1:c.941A>G, XM_047441053.1:c.974A>G, NM_207174.1:c.974A>G, XP_011528109.1:p.Asn325Ser, NP_004906.3:p.Asn314Ser, NP_058198.2:p.Asn314Ser, XP_024307909.1:p.Asn422Ser, NP_997510.1:p.Asn316Ser, XP_011528108.1:p.Asn325Ser, NP_997512.1:p.Asn311Ser, NP_997511.1:p.Asn292Ser, XP_047297010.1:p.Asn314Ser, XP_047297011.1:p.Asn314Ser, XP_047297009.1:p.Asn325Ser, NP_997057.1:p.Asn325Ser

Select item 147719336215.

rs1477193362 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 21:42288026 (GRCh38)
21:43708136 (GRCh37)
Canonical SPDI:: NC_000021.9:42288025:C:A,NC_000021.9:42288025:C:G
Gene:: ABCG1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000031/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.42288026C>A, NC_000021.9:g.42288026C>G, NC_000021.8:g.43708136C>A, NC_000021.8:g.43708136C>G, XM_011529807.4:c.1144C>A, XM_011529807.4:c.1144C>G, XM_011529807.3:c.1144C>A, XM_011529807.3:c.1144C>G, XM_011529807.2:c.1144C>A, XM_011529807.2:c.1144C>G, XM_011529807.1:c.1144C>A, XM_011529807.1:c.1144C>G, NM_004915.4:c.1111C>A, NM_004915.4:c.1111C>G, NM_004915.3:c.1111C>A, NM_004915.3:c.1111C>G, NM_016818.3:c.1111C>A, NM_016818.3:c.1111C>G, NM_016818.2:c.1111C>A, NM_016818.2:c.1111C>G, XM_024452141.2:c.1435C>A, XM_024452141.2:c.1435C>G, XM_024452141.1:c.1435C>A, XM_024452141.1:c.1435C>G, NM_207627.2:c.1117C>A, NM_207627.2:c.1117C>G, NM_207627.1:c.1117C>A, NM_207627.1:c.1117C>G, XM_011529806.2:c.1144C>A, XM_011529806.2:c.1144C>G, XM_011529806.1:c.1144C>A, XM_011529806.1:c.1144C>G, NM_207629.2:c.1102C>A, NM_207629.2:c.1102C>G, NM_207629.1:c.1102C>A, NM_207629.1:c.1102C>G, NM_207630.1:c.1549C>A, NM_207630.1:c.1549C>G, NM_207628.1:c.1045C>A, NM_207628.1:c.1045C>G, XM_047441054.1:c.1111C>A, XM_047441054.1:c.1111C>G, XM_047441055.1:c.1111C>A, XM_047441055.1:c.1111C>G, XM_047441053.1:c.1144C>A, XM_047441053.1:c.1144C>G, NM_207174.1:c.1144C>A, NM_207174.1:c.1144C>G, XP_011528109.1:p.Pro382Thr, XP_011528109.1:p.Pro382Ala, NP_004906.3:p.Pro371Thr, NP_004906.3:p.Pro371Ala, NP_058198.2:p.Pro371Thr, NP_058198.2:p.Pro371Ala, XP_024307909.1:p.Pro479Thr, XP_024307909.1:p.Pro479Ala, NP_997510.1:p.Pro373Thr, NP_997510.1:p.Pro373Ala, XP_011528108.1:p.Pro382Thr, XP_011528108.1:p.Pro382Ala, NP_997512.1:p.Pro368Thr, NP_997512.1:p.Pro368Ala, NP_997511.1:p.Pro349Thr, NP_997511.1:p.Pro349Ala, XP_047297010.1:p.Pro371Thr, XP_047297010.1:p.Pro371Ala, XP_047297011.1:p.Pro371Thr, XP_047297011.1:p.Pro371Ala, XP_047297009.1:p.Pro382Thr, XP_047297009.1:p.Pro382Ala, NP_997057.1:p.Pro382Thr, NP_997057.1:p.Pro382Ala

Select item 147630556016.

rs1476305560 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTG>- [Show Flanks]
Chromosome:: 21:42296877 (GRCh38)
21:43716987 (GRCh37)
Canonical SPDI:: NC_000021.9:42296875:GGTG:G
Gene:: ABCG1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000021.9:g.42296877_42296879del, NC_000021.8:g.43716987_43716989del, XM_011529807.4:c.*651_*653del, XM_011529807.3:c.*651_*653del, XM_011529807.2:c.*651_*653del, XM_011529807.1:c.*651_*653del, NM_004915.4:c.*485_*487del, NM_004915.3:c.*485_*487del, NM_016818.3:c.*485_*487del, NM_016818.2:c.*485_*487del, XM_024452141.2:c.*485_*487del, XM_024452141.1:c.*485_*487del, NM_207627.2:c.*485_*487del, NM_207627.1:c.*485_*487del, XM_011529806.2:c.*485_*487del, XM_011529806.1:c.*485_*487del, NM_207629.2:c.*485_*487del, NM_207629.1:c.*485_*487del, NM_207630.1:c.*485_*487del, NM_207628.1:c.*485_*487del, XM_047441054.1:c.*651_*653del, XM_047441055.1:c.*651_*653del, XM_047441053.1:c.*651_*653del, NM_207174.1:c.*485_*487del

Select item 147611014717.

rs1476110147 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:42291592 (GRCh38)
21:43711702 (GRCh37)
Canonical SPDI:: NC_000021.9:42291591:C:T
Gene:: ABCG1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000021.9:g.42291592C>T, NC_000021.8:g.43711702C>T, XM_011529807.4:c.1658C>T, XM_011529807.3:c.1658C>T, XM_011529807.2:c.1658C>T, XM_011529807.1:c.1658C>T, NM_004915.4:c.1625C>T, NM_004915.3:c.1625C>T, NM_016818.3:c.1589C>T, NM_016818.2:c.1589C>T, XM_024452141.2:c.1949C>T, XM_024452141.1:c.1949C>T, NM_207627.2:c.1595C>T, NM_207627.1:c.1595C>T, XM_011529806.2:c.1658C>T, XM_011529806.1:c.1658C>T, NM_207629.2:c.1580C>T, NM_207629.1:c.1580C>T, NM_207630.1:c.2063C>T, NM_207628.1:c.1523C>T, XM_047441054.1:c.1625C>T, XM_047441055.1:c.1589C>T, XM_047441053.1:c.1622C>T, NM_207174.1:c.1622C>T, XP_011528109.1:p.Thr553Ile, NP_004906.3:p.Thr542Ile, NP_058198.2:p.Thr530Ile, XP_024307909.1:p.Thr650Ile, NP_997510.1:p.Thr532Ile, XP_011528108.1:p.Thr553Ile, NP_997512.1:p.Thr527Ile, NP_997511.1:p.Thr508Ile, XP_047297010.1:p.Thr542Ile, XP_047297011.1:p.Thr530Ile, XP_047297009.1:p.Thr541Ile, NP_997057.1:p.Thr541Ile

Select item 147571208618.

rs1475712086 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:42296476 (GRCh38)
21:43716586 (GRCh37)
Canonical SPDI:: NC_000021.9:42296475:C:T
Gene:: ABCG1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.42296476C>T, NC_000021.8:g.43716586C>T, XM_011529807.4:c.*250C>T, XM_011529807.3:c.*250C>T, XM_011529807.2:c.*250C>T, XM_011529807.1:c.*250C>T, NM_004915.4:c.*84C>T, NM_004915.3:c.*84C>T, NM_016818.3:c.*84C>T, NM_016818.2:c.*84C>T, XM_024452141.2:c.*84C>T, XM_024452141.1:c.*84C>T, NM_207627.2:c.*84C>T, NM_207627.1:c.*84C>T, XM_011529806.2:c.*84C>T, XM_011529806.1:c.*84C>T, NM_207629.2:c.*84C>T, NM_207629.1:c.*84C>T, NM_207630.1:c.*84C>T, NM_207628.1:c.*84C>T, XM_047441054.1:c.*250C>T, XM_047441055.1:c.*250C>T, XM_047441053.1:c.*250C>T, NM_207174.1:c.*84C>T

Select item 147509037019.

rs1475090370 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:42297008 (GRCh38)
21:43717118 (GRCh37)
Canonical SPDI:: NC_000021.9:42297007:G:A
Gene:: ABCG1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.42297008G>A, NC_000021.8:g.43717118G>A, XM_011529807.4:c.*782G>A, XM_011529807.3:c.*782G>A, XM_011529807.2:c.*782G>A, XM_011529807.1:c.*782G>A, NM_004915.4:c.*616G>A, NM_004915.3:c.*616G>A, NM_016818.3:c.*616G>A, NM_016818.2:c.*616G>A, XM_024452141.2:c.*616G>A, XM_024452141.1:c.*616G>A, NM_207627.2:c.*616G>A, NM_207627.1:c.*616G>A, XM_011529806.2:c.*616G>A, XM_011529806.1:c.*616G>A, NM_207629.2:c.*616G>A, NM_207629.1:c.*616G>A, NM_207630.1:c.*616G>A, NM_207628.1:c.*616G>A, XM_047441054.1:c.*782G>A, XM_047441055.1:c.*782G>A, XM_047441053.1:c.*782G>A, NM_207174.1:c.*616G>A

Select item 147145822220.

rs1471458222 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:42296848 (GRCh38)
21:43716958 (GRCh37)
Canonical SPDI:: NC_000021.9:42296847:G:A
Gene:: ABCG1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.42296848G>A, NC_000021.8:g.43716958G>A, XM_011529807.4:c.*622G>A, XM_011529807.3:c.*622G>A, XM_011529807.2:c.*622G>A, XM_011529807.1:c.*622G>A, NM_004915.4:c.*456G>A, NM_004915.3:c.*456G>A, NM_016818.3:c.*456G>A, NM_016818.2:c.*456G>A, XM_024452141.2:c.*456G>A, XM_024452141.1:c.*456G>A, NM_207627.2:c.*456G>A, NM_207627.1:c.*456G>A, XM_011529806.2:c.*456G>A, XM_011529806.1:c.*456G>A, NM_207629.2:c.*456G>A, NM_207629.1:c.*456G>A, NM_207630.1:c.*456G>A, NM_207628.1:c.*456G>A, XM_047441054.1:c.*622G>A, XM_047441055.1:c.*622G>A, XM_047441053.1:c.*622G>A, NM_207174.1:c.*456G>A

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