SNP Links for Gene (Select 7916) - SNP

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Select item 14909929991.

rs1490992999 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 6:31626758 (GRCh38)
6:31594535 (GRCh37)
Canonical SPDI:: NC_000006.12:31626757:A:C,NC_000006.12:31626757:A:G
Gene:: PRRC2A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.31626758A>C, NC_000006.12:g.31626758A>G, NC_000006.11:g.31594535A>C, NC_000006.11:g.31594535A>G, NT_113891.3:g.3104044A>C, NT_113891.3:g.3104044A>G, NT_113891.2:g.3104150A>C, NT_113891.2:g.3104150A>G, NT_167248.2:g.2882578A>C, NT_167248.2:g.2882578A>G, NT_167248.1:g.2888174A>C, NT_167248.1:g.2888174A>G, NT_167245.2:g.2874522A>C, NT_167245.2:g.2874522A>G, NT_167245.1:g.2880107A>C, NT_167245.1:g.2880107A>G, NT_167249.2:g.2926038A>C, NT_167249.2:g.2926038A>G, NT_167249.1:g.2925336A>C, NT_167249.1:g.2925336A>G, NT_167246.2:g.2931799A>C, NT_167246.2:g.2931799A>G, NT_167246.1:g.2937419A>C, NT_167246.1:g.2937419A>G, NT_167247.2:g.2968638A>C, NT_167247.2:g.2968638A>G, NT_167247.1:g.2974223A>C, NT_167247.1:g.2974223A>G

Select item 14909756022.

rs1490975602 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:31628661 (GRCh38)
6:31596438 (GRCh37)
Canonical SPDI:: NC_000006.12:31628660:G:A
Gene:: PRRC2A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.31628661G>A, NC_000006.11:g.31596438G>A, NT_113891.3:g.3105947G>A, NT_113891.2:g.3106053G>A, NT_167248.2:g.2884481G>A, NT_167248.1:g.2890077G>A, NT_167245.2:g.2876425G>A, NT_167245.1:g.2882010G>A, NT_167249.2:g.2927941G>A, NT_167249.1:g.2927239G>A, NT_167246.2:g.2933702G>A, NT_167246.1:g.2939322G>A, NT_167247.2:g.2970541G>A, NT_167247.1:g.2976126G>A

Select item 14908763963.

rs1490876396 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:31627925 (GRCh38)
6:31595702 (GRCh37)
Canonical SPDI:: NC_000006.12:31627924:C:T
Gene:: PRRC2A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.31627925C>T, NC_000006.11:g.31595702C>T, NT_113891.3:g.3105211C>T, NT_113891.2:g.3105317C>T, NT_167248.2:g.2883745C>T, NT_167248.1:g.2889341C>T, NT_167245.2:g.2875689C>T, NT_167245.1:g.2881274C>T, NT_167249.2:g.2927205C>T, NT_167249.1:g.2926503C>T, NT_167246.2:g.2932966C>T, NT_167246.1:g.2938586C>T, NT_167247.2:g.2969805C>T, NT_167247.1:g.2975390C>T, NM_004638.4:c.1451C>T, NM_004638.3:c.1451C>T, NM_080686.3:c.1451C>T, NM_080686.2:c.1451C>T, XM_047419336.1:c.1451C>T, NP_004629.3:p.Ala484Val, NP_542417.2:p.Ala484Val, XP_047275292.1:p.Ala484Val

Select item 14907184834.

rs1490718483 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:31619430 (GRCh38)
6:31587207 (GRCh37)
Canonical SPDI:: NC_000006.12:31619429:G:A
Gene:: PRRC2A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000018/2 (GnomAD)
HGVS:: NC_000006.12:g.31619430G>A, NC_000006.11:g.31587207G>A, NT_113891.3:g.3096717G>A, NT_113891.2:g.3096823G>A, NT_167248.2:g.2875251G>A, NT_167248.1:g.2880847G>A, NT_167245.2:g.2867198G>A, NT_167245.1:g.2872783G>A, NT_167249.2:g.2918711G>A, NT_167249.1:g.2918009G>A, NT_167246.2:g.2924471G>A, NT_167246.1:g.2930091G>A, NT_167247.2:g.2961316G>A, NT_167247.1:g.2966901G>A

Select item 14905684315.

rs1490568431 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:31633813 (GRCh38)
6:31601590 (GRCh37)
Canonical SPDI:: NC_000006.12:31633812:T:G
Gene:: PRRC2A (Varview), MIR6832 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency
MAF:: G=0.00001/2 (GnomAD_exomes)
HGVS:: NC_000006.12:g.31633813T>G, NC_000006.11:g.31601590T>G, NT_113891.3:g.3111100T>G, NT_113891.2:g.3111206T>G, NT_167248.2:g.2889631T>G, NT_167248.1:g.2895227T>G, NT_167245.2:g.2881577T>G, NT_167245.1:g.2887162T>G, NT_167249.2:g.2933094T>G, NT_167249.1:g.2932392T>G, NT_167246.2:g.2938854T>G, NT_167246.1:g.2944474T>G, NT_167247.2:g.2975693T>G, NT_167247.1:g.2981278T>G, NR_106890.1:n.27T>G

Select item 14905555326.

rs1490555532 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:31620175 (GRCh38)
6:31587952 (GRCh37)
Canonical SPDI:: NC_000006.12:31620174:G:A
Gene:: PRRC2A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.31620175G>A, NC_000006.11:g.31587952G>A, NT_113891.3:g.3097462G>A, NT_113891.2:g.3097568G>A, NT_167248.2:g.2875996G>A, NT_167248.1:g.2881592G>A, NT_167245.2:g.2867943G>A, NT_167245.1:g.2873528G>A, NT_167249.2:g.2919456G>A, NT_167249.1:g.2918754G>A, NT_167246.2:g.2925216G>A, NT_167246.1:g.2930836G>A, NT_167247.2:g.2962061G>A, NT_167247.1:g.2967646G>A

Select item 14904277107.

rs1490427710 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:31633859 (GRCh38)
6:31601636 (GRCh37)
Canonical SPDI:: NC_000006.12:31633858:A:C
Gene:: PRRC2A (Varview), MIR6832 (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,missense_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.0054/64 (ALFA)
C=0.01028/30 (KOREAN)
HGVS:: NC_000006.12:g.31633859A>C, NC_000006.11:g.31601636A>C, NT_113891.3:g.3111146A>C, NT_113891.2:g.3111252A>C, NT_167248.2:g.2889677A>C, NT_167248.1:g.2895273A>C, NT_167245.2:g.2881623A>C, NT_167245.1:g.2887208A>C, NT_167249.2:g.2933140A>C, NT_167249.1:g.2932438A>C, NT_167246.2:g.2938900A>C, NT_167246.1:g.2944520A>C, NT_167247.2:g.2975739A>C, NT_167247.1:g.2981324A>C, NM_004638.4:c.4589A>C, NM_004638.3:c.4589A>C, NM_080686.3:c.4589A>C, NM_080686.2:c.4589A>C, XM_047419336.1:c.4589A>C, NP_004629.3:p.Asp1530Ala, NP_542417.2:p.Asp1530Ala, XP_047275292.1:p.Asp1530Ala

Select item 14903788618.

rs1490378861 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:31620671 (GRCh38)
6:31588448 (GRCh37)
Canonical SPDI:: NC_000006.12:31620670:G:A
Gene:: PRRC2A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_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_000006.12:g.31620671G>A, NC_000006.11:g.31588448G>A, NT_113891.3:g.3097959G>A, NT_113891.2:g.3098065G>A, NT_167248.2:g.2876493G>A, NT_167248.1:g.2882089G>A, NT_167245.2:g.2868435G>A, NT_167245.1:g.2874020G>A, NT_167249.2:g.2919953G>A, NT_167249.1:g.2919251G>A, NT_167246.2:g.2925712G>A, NT_167246.1:g.2931332G>A, NT_167247.2:g.2962553G>A, NT_167247.1:g.2968138G>A

Select item 14903527789.

rs1490352778 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:31621149 (GRCh38)
6:31588926 (GRCh37)
Canonical SPDI:: NC_000006.12:31621148:T:G
Gene:: PRRC2A (Varview), SNORA38 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000021/3 (GnomAD)
G=0.00003/8 (TOPMED)
HGVS:: NC_000006.12:g.31621149T>G, NC_000006.11:g.31588926T>G, NT_113891.3:g.3098437T>G, NT_113891.2:g.3098543T>G, NT_167248.2:g.2876971T>G, NT_167248.1:g.2882567T>G, NT_167245.2:g.2868919T>G, NT_167245.1:g.2874504T>G, NT_167249.2:g.2920431T>G, NT_167249.1:g.2919729T>G, NT_167246.2:g.2926190T>G, NT_167246.1:g.2931810T>G, NT_167247.2:g.2963037T>G, NT_167247.1:g.2968622T>G

Select item 149022986910.

rs1490229869 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:31618757 (GRCh38)
6:31586534 (GRCh37)
Canonical SPDI:: NC_000006.12:31618756:C:G
Gene:: PRRC2A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.00008/1 (ALFA)
HGVS:: NC_000006.12:g.31618757C>G, NC_000006.11:g.31586534C>G, NT_113891.3:g.3096047C>G, NT_113891.2:g.3096153C>G, NT_167248.2:g.2874581C>G, NT_167248.1:g.2880177C>G, NT_167245.2:g.2866524C>G, NT_167245.1:g.2872109C>G, NT_167249.2:g.2918041C>G, NT_167249.1:g.2917339C>G, NT_167247.2:g.2960642C>G, NT_167247.1:g.2966227C>G

Select item 149021620111.

rs1490216201 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 6:31620491 (GRCh38)
6:31588269 (GRCh37)
Canonical SPDI:: NC_000006.12:31620491:T:TT
Gene:: PRRC2A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.31620492dup, NC_000006.11:g.31588269dup, NT_113891.3:g.3097779dup, NT_113891.2:g.3097885dup, NT_167248.2:g.2876313dup, NT_167248.1:g.2881909dup, NT_167245.2:g.2868256dup, NT_167245.1:g.2873841dup, NT_167249.2:g.2919773dup, NT_167249.1:g.2919071dup, NT_167246.2:g.2925533dup, NT_167246.1:g.2931153dup, NT_167247.2:g.2962374dup, NT_167247.1:g.2967959dup

Select item 149013252712.

rs1490132527 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 6:31634473 (GRCh38)
6:31602250 (GRCh37)
Canonical SPDI:: NC_000006.12:31634472:C:A,NC_000006.12:31634472:C:T
Gene:: PRRC2A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000006.12:g.31634473C>A, NC_000006.12:g.31634473C>T, NC_000006.11:g.31602250C>A, NC_000006.11:g.31602250C>T, NT_113891.3:g.3111760C>A, NT_113891.3:g.3111760C>T, NT_113891.2:g.3111866C>A, NT_113891.2:g.3111866C>T, NT_167248.2:g.2890291C>A, NT_167248.2:g.2890291C>T, NT_167248.1:g.2895887C>A, NT_167248.1:g.2895887C>T, NT_167245.2:g.2882237C>A, NT_167245.2:g.2882237C>T, NT_167245.1:g.2887822C>A, NT_167245.1:g.2887822C>T, NT_167249.2:g.2933754C>A, NT_167249.2:g.2933754C>T, NT_167249.1:g.2933052C>A, NT_167249.1:g.2933052C>T, NT_167246.2:g.2939514C>A, NT_167246.2:g.2939514C>T, NT_167246.1:g.2945134C>A, NT_167246.1:g.2945134C>T, NT_167247.2:g.2976353C>A, NT_167247.2:g.2976353C>T, NT_167247.1:g.2981938C>A, NT_167247.1:g.2981938C>T, NM_004638.4:c.4851C>A, NM_004638.4:c.4851C>T, NM_004638.3:c.4851C>A, NM_004638.3:c.4851C>T, NM_080686.3:c.4851C>A, NM_080686.3:c.4851C>T, NM_080686.2:c.4851C>A, NM_080686.2:c.4851C>T, XM_047419336.1:c.4851C>A, XM_047419336.1:c.4851C>T

Select item 149010626913.

rs1490106269 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 6:31635389 (GRCh38)
6:31603166 (GRCh37)
Canonical SPDI:: NC_000006.12:31635388:C:
Gene:: PRRC2A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.31635389del, NC_000006.11:g.31603166del, NT_113891.3:g.3112676del, NT_113891.2:g.3112782del, NT_167248.2:g.2891207del, NT_167248.1:g.2896803del, NT_167245.2:g.2883153del, NT_167245.1:g.2888738del, NT_167249.2:g.2934670del, NT_167249.1:g.2933968del, NT_167246.2:g.2940430del, NT_167246.1:g.2946050del, NT_167247.2:g.2977269del, NT_167247.1:g.2982854del

Select item 148997026414.

rs1489970264 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 6:31634019 (GRCh38)
6:31601796 (GRCh37)
Canonical SPDI:: NC_000006.12:31634018:C:G,NC_000006.12:31634018:C:T
Gene:: PRRC2A (Varview), MIR6832 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.31634019C>G, NC_000006.12:g.31634019C>T, NC_000006.11:g.31601796C>G, NC_000006.11:g.31601796C>T, NT_113891.3:g.3111306C>G, NT_113891.3:g.3111306C>T, NT_113891.2:g.3111412C>G, NT_113891.2:g.3111412C>T, NT_167248.2:g.2889837C>G, NT_167248.2:g.2889837C>T, NT_167248.1:g.2895433C>G, NT_167248.1:g.2895433C>T, NT_167245.2:g.2881783C>G, NT_167245.2:g.2881783C>T, NT_167245.1:g.2887368C>G, NT_167245.1:g.2887368C>T, NT_167249.2:g.2933300C>G, NT_167249.2:g.2933300C>T, NT_167249.1:g.2932598C>G, NT_167249.1:g.2932598C>T, NT_167246.2:g.2939060C>G, NT_167246.2:g.2939060C>T, NT_167246.1:g.2944680C>G, NT_167246.1:g.2944680C>T, NT_167247.2:g.2975899C>G, NT_167247.2:g.2975899C>T, NT_167247.1:g.2981484C>G, NT_167247.1:g.2981484C>T

Select item 148996537215.

rs1489965372 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:31626874 (GRCh38)
6:31594651 (GRCh37)
Canonical SPDI:: NC_000006.12:31626873:C:T
Gene:: PRRC2A (Varview)
Functional Consequence:: intron_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_000006.12:g.31626874C>T, NC_000006.11:g.31594651C>T, NT_113891.3:g.3104160C>T, NT_113891.2:g.3104266C>T, NT_167248.2:g.2882694C>T, NT_167248.1:g.2888290C>T, NT_167245.2:g.2874638C>T, NT_167245.1:g.2880223C>T, NT_167249.2:g.2926154C>T, NT_167249.1:g.2925452C>T, NT_167246.2:g.2931915C>T, NT_167246.1:g.2937535C>T, NT_167247.2:g.2968754C>T, NT_167247.1:g.2974339C>T

Select item 148994696716.

rs1489946967 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 6:31634627 (GRCh38)
6:31602404 (GRCh37)
Canonical SPDI:: NC_000006.12:31634626:C:G,NC_000006.12:31634626:C:T
Gene:: PRRC2A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.31634627C>G, NC_000006.12:g.31634627C>T, NC_000006.11:g.31602404C>G, NC_000006.11:g.31602404C>T, NT_113891.3:g.3111914C>G, NT_113891.3:g.3111914C>T, NT_113891.2:g.3112020C>G, NT_113891.2:g.3112020C>T, NT_167248.2:g.2890445C>G, NT_167248.2:g.2890445C>T, NT_167248.1:g.2896041C>G, NT_167248.1:g.2896041C>T, NT_167245.2:g.2882391C>G, NT_167245.2:g.2882391C>T, NT_167245.1:g.2887976C>G, NT_167245.1:g.2887976C>T, NT_167249.2:g.2933908C>G, NT_167249.2:g.2933908C>T, NT_167249.1:g.2933206C>G, NT_167249.1:g.2933206C>T, NT_167246.2:g.2939668C>G, NT_167246.2:g.2939668C>T, NT_167246.1:g.2945288C>G, NT_167246.1:g.2945288C>T, NT_167247.2:g.2976507C>G, NT_167247.2:g.2976507C>T, NT_167247.1:g.2982092C>G, NT_167247.1:g.2982092C>T

Select item 148950385317.

rs1489503853 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:31629548 (GRCh38)
6:31597325 (GRCh37)
Canonical SPDI:: NC_000006.12:31629547:G:A
Gene:: PRRC2A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.31629548G>A, NC_000006.11:g.31597325G>A, NT_113891.3:g.3106834G>A, NT_113891.2:g.3106940G>A, NT_167248.2:g.2885368G>A, NT_167248.1:g.2890964G>A, NT_167245.2:g.2877312G>A, NT_167245.1:g.2882897G>A, NT_167249.2:g.2928828G>A, NT_167249.1:g.2928126G>A, NT_167246.2:g.2934589G>A, NT_167246.1:g.2940209G>A, NT_167247.2:g.2971428G>A, NT_167247.1:g.2977013G>A, NM_004638.4:c.1957G>A, NM_004638.3:c.1957G>A, NM_080686.3:c.1957G>A, NM_080686.2:c.1957G>A, XM_047419336.1:c.1957G>A, NP_004629.3:p.Glu653Lys, NP_542417.2:p.Glu653Lys, XP_047275292.1:p.Glu653Lys

Select item 148946575018.

rs1489465750 [Homo sapiens]

Variant type:: DEL
Alleles:: TTT>- [Show Flanks]
Chromosome:: 6:31619547 (GRCh38)
6:31587324 (GRCh37)
Canonical SPDI:: NC_000006.12:31619546:TTT:
Gene:: PRRC2A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.31619547_31619549del, NC_000006.11:g.31587324_31587326del, NT_113891.3:g.3096834_3096836del, NT_113891.2:g.3096940_3096942del, NT_167248.2:g.2875368_2875370del, NT_167248.1:g.2880964_2880966del, NT_167245.2:g.2867315_2867317del, NT_167245.1:g.2872900_2872902del, NT_167249.2:g.2918828_2918830del, NT_167249.1:g.2918126_2918128del, NT_167246.2:g.2924588_2924590del, NT_167246.1:g.2930208_2930210del, NT_167247.2:g.2961433_2961435del, NT_167247.1:g.2967018_2967020del

Select item 148930258319.

rs1489302583 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:31620476 (GRCh38)
6:31588253 (GRCh37)
Canonical SPDI:: NC_000006.12:31620475:T:C
Gene:: PRRC2A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.31620476T>C, NC_000006.11:g.31588253T>C, NT_113891.3:g.3097763T>C, NT_113891.2:g.3097869T>C, NT_167248.2:g.2876297T>C, NT_167248.1:g.2881893T>C, NT_167245.2:g.2868240T>C, NT_167245.1:g.2873825T>C, NT_167249.2:g.2919757T>C, NT_167249.1:g.2919055T>C, NT_167246.2:g.2925517T>C, NT_167246.1:g.2931137T>C, NT_167247.2:g.2962358T>C, NT_167247.1:g.2967943T>C

Select item 148913656720.

rs1489136567 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:31630381 (GRCh38)
6:31598158 (GRCh37)
Canonical SPDI:: NC_000006.12:31630380:G:C
Gene:: PRRC2A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.31630381G>C, NC_000006.11:g.31598158G>C, NT_113891.3:g.3107668G>C, NT_113891.2:g.3107774G>C, NT_167248.2:g.2886199G>C, NT_167248.1:g.2891795G>C, NT_167245.2:g.2878145G>C, NT_167245.1:g.2883730G>C, NT_167249.2:g.2929662G>C, NT_167249.1:g.2928960G>C, NT_167246.2:g.2935422G>C, NT_167246.1:g.2941042G>C, NT_167247.2:g.2972261G>C, NT_167247.1:g.2977846G>C

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