SNP Links for Gene (Select 2101) - SNP

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Select item 14915479831.

rs1491547983 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 11:64316746 (GRCh38)
11:64084219 (GRCh37)
Canonical SPDI:: NC_000011.10:64316746:T:TT
Gene:: ESRRA (Varview), PRDX5 (Varview), TRMT112 (Varview)
Functional Consequence:: 500B_downstream_variant,2KB_upstream_variant,downstream_transcript_variant,3_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000011.10:g.64316747dup, NC_000011.9:g.64084219dup, NM_016404.3:c.*114dup, NM_016404.2:c.*114dup, NM_016404.1:c.*114dup, NM_001286084.2:c.*260dup, NM_001286084.1:c.*260dup, NM_001286082.2:c.*114dup, NM_001286082.1:c.*114dup, XM_047427119.1:c.*114dup, XM_047427118.1:c.*114dup, NM_001372071.1:c.*114dup, NM_001372072.1:c.*114dup

Select item 14913177312.

rs1491317731 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 11:64316746 (GRCh38)
11:64084218 (GRCh37)
Canonical SPDI:: NC_000011.10:64316745:CT:
Gene:: ESRRA (Varview), PRDX5 (Varview), TRMT112 (Varview)
Functional Consequence:: 500B_downstream_variant,2KB_upstream_variant,downstream_transcript_variant,3_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: -=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.64316746_64316747del, NC_000011.9:g.64084218_64084219del, NM_016404.3:c.*114_*115del, NM_016404.2:c.*114_*115del, NM_016404.1:c.*114_*115del, NM_001286084.2:c.*260_*261del, NM_001286084.1:c.*260_*261del, NM_001286082.2:c.*114_*115del, NM_001286082.1:c.*114_*115del, XM_047427119.1:c.*114_*115del, XM_047427118.1:c.*114_*115del, NM_001372071.1:c.*114_*115del, NM_001372072.1:c.*114_*115del

Select item 14912304333.

rs1491230433 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 11:64311417 (GRCh38)
11:64078890 (GRCh37)
Canonical SPDI:: NC_000011.10:64311417::C
Gene:: ESRRA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000293/1 (GnomAD)
HGVS:: NC_000011.10:g.64311417_64311418insC, NC_000011.9:g.64078889_64078890insC

Select item 14910400644.

rs1491040064 has merged into rs575246508 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAA>-,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA [Show Flanks]
Chromosome:: 11:64309643 (GRCh38)
11:64077115 (GRCh37)
Canonical SPDI:: NC_000011.10:64309634:AAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000011.10:64309634:AAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000011.10:64309634:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000011.10:64309634:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000011.10:64309634:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:64309634:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:64309634:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:64309634:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000011.10:64309634:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000011.10:64309634:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
Gene:: ESRRA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
-=0.03188/19 (NorthernSweden)
-=0.35/14 (GENOME_DK)
HGVS:: NC_000011.10:g.64309643_64309651del, NC_000011.10:g.64309645_64309651del, NC_000011.10:g.64309647_64309651del, NC_000011.10:g.64309648_64309651del, NC_000011.10:g.64309649_64309651del, NC_000011.10:g.64309650_64309651del, NC_000011.10:g.64309651del, NC_000011.10:g.64309651dup, NC_000011.10:g.64309650_64309651dup, NC_000011.10:g.64309649_64309651dup, NC_000011.9:g.64077115_64077123del, NC_000011.9:g.64077117_64077123del, NC_000011.9:g.64077119_64077123del, NC_000011.9:g.64077120_64077123del, NC_000011.9:g.64077121_64077123del, NC_000011.9:g.64077122_64077123del, NC_000011.9:g.64077123del, NC_000011.9:g.64077123dup, NC_000011.9:g.64077122_64077123dup, NC_000011.9:g.64077121_64077123dup

Select item 14908955965.

rs1490895596 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 11:64307000 (GRCh38)
11:64074472 (GRCh37)
Canonical SPDI:: NC_000011.10:64306999:G:A,NC_000011.10:64306999:G:T
Gene:: ESRRA (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000011.10:g.64307000G>A, NC_000011.10:g.64307000G>T, NC_000011.9:g.64074472G>A, NC_000011.9:g.64074472G>T, XM_017017313.2:c.-150G>A, XM_017017313.2:c.-150G>T, XM_017017313.1:c.-150G>A, XM_017017313.1:c.-150G>T, XM_047426524.1:c.-343G>A, XM_047426524.1:c.-343G>T, XM_047426523.1:c.-150G>A, XM_047426523.1:c.-150G>T

Select item 14908436536.

rs1490843653 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:64307946 (GRCh38)
11:64075418 (GRCh37)
Canonical SPDI:: NC_000011.10:64307945:G:A
Gene:: ESRRA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.64307946G>A, NC_000011.9:g.64075418G>A

Select item 14906744197.

rs1490674419 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:64312658 (GRCh38)
11:64080130 (GRCh37)
Canonical SPDI:: NC_000011.10:64312657:G:A
Gene:: ESRRA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000019/5 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000011.10:g.64312658G>A, NC_000011.9:g.64080130G>A

Select item 14903973728.

rs1490397372 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:64306506 (GRCh38)
11:64073978 (GRCh37)
Canonical SPDI:: NC_000011.10:64306505:G:A
Gene:: ESRRA (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.64306506G>A, NC_000011.9:g.64073978G>A, XM_017017313.2:c.-644G>A, XM_017017313.1:c.-644G>A, XM_047426524.1:c.-837G>A, XM_047426523.1:c.-644G>A

Select item 14902435839.

rs1490243583 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 11:64306866 (GRCh38)
11:64074338 (GRCh37)
Canonical SPDI:: NC_000011.10:64306865:GGGGG:GGGG
Gene:: ESRRA (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGG=0./0 (ALFA)
-=0.000797/211 (TOPMED)
-=0.00087/122 (GnomAD)
HGVS:: NC_000011.10:g.64306870del, NC_000011.9:g.64074342del, XM_017017313.2:c.-280del, XM_017017313.1:c.-280del, XM_047426524.1:c.-473del, XM_047426523.1:c.-280del

Select item 149023773410.

rs1490237734 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:64315105 (GRCh38)
11:64082577 (GRCh37)
Canonical SPDI:: NC_000011.10:64315104:G:A
Gene:: ESRRA (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.64315105G>A, NC_000011.9:g.64082577G>A, NM_004451.5:c.847G>A, NM_004451.4:c.847G>A, NM_004451.3:c.847G>A, XM_017017313.2:c.877G>A, XM_017017313.1:c.877G>A, NM_001282450.2:c.847G>A, NM_001282450.1:c.847G>A, NM_001282451.2:c.844G>A, NM_001282451.1:c.844G>A, XM_047426524.1:c.781G>A, XM_047426523.1:c.874G>A, NP_004442.3:p.Glu283Lys, XP_016872802.1:p.Glu293Lys, NP_001269379.1:p.Glu283Lys, NP_001269380.1:p.Glu282Lys, XP_047282480.1:p.Glu261Lys, XP_047282479.1:p.Glu292Lys

Select item 149019406111.

rs1490194061 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:64316906 (GRCh38)
11:64084378 (GRCh37)
Canonical SPDI:: NC_000011.10:64316905:G:A
Gene:: ESRRA (Varview), PRDX5 (Varview), TRMT112 (Varview)
Functional Consequence:: coding_sequence_variant,500B_downstream_variant,2KB_upstream_variant,downstream_transcript_variant,3_prime_UTR_variant,synonymous_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.64316906G>A, NC_000011.9:g.64084378G>A, NM_016404.3:c.333C>T, NM_016404.2:c.333C>T, NM_016404.1:c.333C>T, NM_001286084.2:c.*101C>T, NM_001286084.1:c.*101C>T, NM_001286082.2:c.318C>T, NM_001286082.1:c.318C>T, XM_047427119.1:c.333C>T, XM_047427118.1:c.333C>T, NM_001372071.1:c.333C>T, NM_001372072.1:c.333C>T

Select item 149019259012.

rs1490192590 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:64304891 (GRCh38)
11:64072363 (GRCh37)
Canonical SPDI:: NC_000011.10:64304890:T:C
Gene:: ESRRA (Varview), CATSPERZ (Varview), KCNK4-TEX40 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: C=0./0 (GnomAD)
HGVS:: NC_000011.10:g.64304891T>C, NC_000011.9:g.64072363T>C

Select item 148978890013.

rs1489788900 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:64314224 (GRCh38)
11:64081696 (GRCh37)
Canonical SPDI:: NC_000011.10:64314223:G:A
Gene:: ESRRA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.64314224G>A, NC_000011.9:g.64081696G>A

Select item 148978018814.

rs1489780188 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 11:64309681 (GRCh38)
11:64077153 (GRCh37)
Canonical SPDI:: NC_000011.10:64309680:C:A,NC_000011.10:64309680:C:T
Gene:: ESRRA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
T=0.000043/6 (GnomAD)
HGVS:: NC_000011.10:g.64309681C>A, NC_000011.10:g.64309681C>T, NC_000011.9:g.64077153C>A, NC_000011.9:g.64077153C>T

Select item 148974975715.

rs1489749757 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 11:64308833 (GRCh38)
11:64076305 (GRCh37)
Canonical SPDI:: NC_000011.10:64308832:GG:G
Gene:: ESRRA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.64308834del, NC_000011.9:g.64076306del

Select item 148952351716.

rs1489523517 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:64307218 (GRCh38)
11:64074690 (GRCh37)
Canonical SPDI:: NC_000011.10:64307217:C:A
Gene:: ESRRA (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.64307218C>A, NC_000011.9:g.64074690C>A, NM_004451.5:c.39C>A, NM_004451.4:c.39C>A, NM_004451.3:c.39C>A, XM_017017313.2:c.69C>A, XM_017017313.1:c.69C>A, NM_001282450.2:c.39C>A, NM_001282450.1:c.39C>A, NM_001282451.2:c.39C>A, NM_001282451.1:c.39C>A, XM_047426524.1:c.-125C>A, XM_047426523.1:c.69C>A

Select item 148937856417.

rs1489378564 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 11:64306011 (GRCh38)
11:64073483 (GRCh37)
Canonical SPDI:: NC_000011.10:64306010:C:A,NC_000011.10:64306010:C:G
Gene:: ESRRA (Varview)
Functional Consequence:: 5_prime_UTR_variant,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_000011.10:g.64306011C>A, NC_000011.10:g.64306011C>G, NC_000011.9:g.64073483C>A, NC_000011.9:g.64073483C>G, XM_017017313.2:c.-1139C>A, XM_017017313.2:c.-1139C>G, NM_001282450.2:c.-450C>A, NM_001282450.2:c.-450C>G, XM_047426524.1:c.-1332C>A, XM_047426524.1:c.-1332C>G, XM_047426523.1:c.-1139C>A, XM_047426523.1:c.-1139C>G

Select item 148905825118.

rs1489058251 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:64308015 (GRCh38)
11:64075487 (GRCh37)
Canonical SPDI:: NC_000011.10:64308014:C:T
Gene:: ESRRA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.64308015C>T, NC_000011.9:g.64075487C>T

Select item 148903780619.

rs1489037806 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:64305757 (GRCh38)
11:64073229 (GRCh37)
Canonical SPDI:: NC_000011.10:64305756:G:A
Gene:: ESRRA (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.64305757G>A, NC_000011.9:g.64073229G>A

Select item 148895847520.

rs1488958475 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 11:64305794 (GRCh38)
11:64073266 (GRCh37)
Canonical SPDI:: NC_000011.10:64305793:T:C,NC_000011.10:64305793:T:G
Gene:: ESRRA (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.64305794T>C, NC_000011.10:g.64305794T>G, NC_000011.9:g.64073266T>C, NC_000011.9:g.64073266T>G

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