rs10618 - SNP

Select item 106181.

rs10618 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:4998686 (GRCh38)
10:5040878 (GRCh37)
Canonical SPDI:: NC_000010.11:4998685:T:C
Gene:: AKR1C2 (Varview), LOC101928051 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000112/4 (ALFA)
C=0.000068/17 (GnomAD_exomes)
C=0.000091/11 (ExAC)
C=0.000151/40 (TOPMED)
C=0.000214/30 (GnomAD)
C=0.000312/2 (1000Genomes)
HGVS:: NC_000010.11:g.4998686T>C, NW_003871071.1:g.28352T>C, NG_031852.1:g.24330A>G, NM_001354.6:c.509A>G, NM_001354.5:c.509A>G, NM_205845.3:c.509A>G, NM_205845.2:c.509A>G, NM_001321027.2:c.431A>G, NM_001321027.1:c.431A>G, NM_001393392.1:c.509A>G, NC_000010.10:g.5040878T>C, XR_001747340.2:n.1785T>C, XM_047424683.1:c.509A>G, XM_047424682.1:c.509A>G, NP_001345.1:p.His170Arg, NP_995317.1:p.His170Arg, NP_001307956.1:p.His144Arg, NP_001380321.1:p.His170Arg, XP_047280639.1:p.His170Arg, XP_047280638.1:p.His170Arg

Select item 1483643942.

rs148364394 has merged into rs10618 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:4998686 (GRCh38)
10:5040878 (GRCh37)
Canonical SPDI:: NC_000010.11:4998685:T:C
Gene:: AKR1C2 (Varview), LOC101928051 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000112/4 (ALFA)
C=0.000068/17 (GnomAD_exomes)
C=0.000091/11 (ExAC)
C=0.000151/40 (TOPMED)
C=0.000214/30 (GnomAD)
C=0.000312/2 (1000Genomes)
HGVS:: NC_000010.11:g.4998686T>C, NW_003871071.1:g.28352T>C, NG_031852.1:g.24330A>G, NM_001354.6:c.509A>G, NM_001354.5:c.509A>G, NM_205845.3:c.509A>G, NM_205845.2:c.509A>G, NM_001321027.2:c.431A>G, NM_001321027.1:c.431A>G, NM_001393392.1:c.509A>G, NC_000010.10:g.5040878T>C, XR_001747340.2:n.1785T>C, XM_047424683.1:c.509A>G, XM_047424682.1:c.509A>G, NP_001345.1:p.His170Arg, NP_995317.1:p.His170Arg, NP_001307956.1:p.His144Arg, NP_001380321.1:p.His170Arg, XP_047280639.1:p.His170Arg, XP_047280638.1:p.His170Arg

Select item 172957553.

rs17295755 has merged into rs10618 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:4998686 (GRCh38)
10:5040878 (GRCh37)
Canonical SPDI:: NC_000010.11:4998685:T:C
Gene:: AKR1C2 (Varview), LOC101928051 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000112/4 (ALFA)
C=0.000068/17 (GnomAD_exomes)
C=0.000091/11 (ExAC)
C=0.000151/40 (TOPMED)
C=0.000214/30 (GnomAD)
C=0.000312/2 (1000Genomes)
HGVS:: NC_000010.11:g.4998686T>C, NW_003871071.1:g.28352T>C, NG_031852.1:g.24330A>G, NM_001354.6:c.509A>G, NM_001354.5:c.509A>G, NM_205845.3:c.509A>G, NM_205845.2:c.509A>G, NM_001321027.2:c.431A>G, NM_001321027.1:c.431A>G, NM_001393392.1:c.509A>G, NC_000010.10:g.5040878T>C, XR_001747340.2:n.1785T>C, XM_047424683.1:c.509A>G, XM_047424682.1:c.509A>G, NP_001345.1:p.His170Arg, NP_995317.1:p.His170Arg, NP_001307956.1:p.His144Arg, NP_001380321.1:p.His170Arg, XP_047280639.1:p.His170Arg, XP_047280638.1:p.His170Arg

Select item 32079124.

rs3207912 has merged into rs10618 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:4998686 (GRCh38)
10:5040878 (GRCh37)
Canonical SPDI:: NC_000010.11:4998685:T:C
Gene:: AKR1C2 (Varview), LOC101928051 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000112/4 (ALFA)
C=0.000068/17 (GnomAD_exomes)
C=0.000091/11 (ExAC)
C=0.000151/40 (TOPMED)
C=0.000214/30 (GnomAD)
C=0.000312/2 (1000Genomes)
HGVS:: NC_000010.11:g.4998686T>C, NW_003871071.1:g.28352T>C, NG_031852.1:g.24330A>G, NM_001354.6:c.509A>G, NM_001354.5:c.509A>G, NM_205845.3:c.509A>G, NM_205845.2:c.509A>G, NM_001321027.2:c.431A>G, NM_001321027.1:c.431A>G, NM_001393392.1:c.509A>G, NC_000010.10:g.5040878T>C, XR_001747340.2:n.1785T>C, XM_047424683.1:c.509A>G, XM_047424682.1:c.509A>G, NP_001345.1:p.His170Arg, NP_995317.1:p.His170Arg, NP_001307956.1:p.His144Arg, NP_001380321.1:p.His170Arg, XP_047280639.1:p.His170Arg, XP_047280638.1:p.His170Arg

Select item 10615285.

rs1061528 has merged into rs10618 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:4998686 (GRCh38)
10:5040878 (GRCh37)
Canonical SPDI:: NC_000010.11:4998685:T:C
Gene:: AKR1C2 (Varview), LOC101928051 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000112/4 (ALFA)
C=0.000068/17 (GnomAD_exomes)
C=0.000091/11 (ExAC)
C=0.000151/40 (TOPMED)
C=0.000214/30 (GnomAD)
C=0.000312/2 (1000Genomes)
HGVS:: NC_000010.11:g.4998686T>C, NW_003871071.1:g.28352T>C, NG_031852.1:g.24330A>G, NM_001354.6:c.509A>G, NM_001354.5:c.509A>G, NM_205845.3:c.509A>G, NM_205845.2:c.509A>G, NM_001321027.2:c.431A>G, NM_001321027.1:c.431A>G, NM_001393392.1:c.509A>G, NC_000010.10:g.5040878T>C, XR_001747340.2:n.1785T>C, XM_047424683.1:c.509A>G, XM_047424682.1:c.509A>G, NP_001345.1:p.His170Arg, NP_995317.1:p.His170Arg, NP_001307956.1:p.His144Arg, NP_001380321.1:p.His170Arg, XP_047280639.1:p.His170Arg, XP_047280638.1:p.His170Arg

dbSNP