SNP Links for Nucleotide (Select 150417970) - SNP

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Select item 14915499671.

rs1491549967 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 10:29457924 (GRCh38)
10:29746853 (GRCh37)
Canonical SPDI:: NC_000010.11:29457923:CA:
Gene:: SVIL (Varview), SVIL-AS1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00014/13 (GnomAD)
HGVS:: NC_000010.11:g.29457924_29457925del, NC_000010.10:g.29746853_29746854del, NG_033998.1:g.282877_282878del, NM_021738.3:c.*322_*323del, NM_021738.2:c.*322_*323del, NM_003174.3:c.*322_*323del, NM_001323599.2:c.*322_*323del, NM_001323599.1:c.*322_*323del, NM_001323600.1:c.*322_*323del

Select item 14912339342.

rs1491233934 has merged into rs34048226 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA [Show Flanks]
Chromosome:: 10:29457935 (GRCh38)
10:29746864 (GRCh37)
Canonical SPDI:: NC_000010.11:29457924:AAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000010.11:29457924:AAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000010.11:29457924:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000010.11:29457924:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000010.11:29457924:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:29457924:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000010.11:29457924:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000010.11:29457924:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000010.11:29457924:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
Gene:: SVIL (Varview), SVIL-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.325/13 (GENOME_DK)
AA=0.4643/2325 (1000Genomes)
HGVS:: NC_000010.11:g.29457935_29457940del, NC_000010.11:g.29457936_29457940del, NC_000010.11:g.29457937_29457940del, NC_000010.11:g.29457938_29457940del, NC_000010.11:g.29457939_29457940del, NC_000010.11:g.29457940del, NC_000010.11:g.29457940dup, NC_000010.11:g.29457939_29457940dup, NC_000010.11:g.29457938_29457940dup, NC_000010.10:g.29746864_29746869del, NC_000010.10:g.29746865_29746869del, NC_000010.10:g.29746866_29746869del, NC_000010.10:g.29746867_29746869del, NC_000010.10:g.29746868_29746869del, NC_000010.10:g.29746869del, NC_000010.10:g.29746869dup, NC_000010.10:g.29746868_29746869dup, NC_000010.10:g.29746867_29746869dup, NG_033998.1:g.282872_282877del, NG_033998.1:g.282873_282877del, NG_033998.1:g.282874_282877del, NG_033998.1:g.282875_282877del, NG_033998.1:g.282876_282877del, NG_033998.1:g.282877del, NG_033998.1:g.282877dup, NG_033998.1:g.282876_282877dup, NG_033998.1:g.282875_282877dup, NM_021738.3:c.*317_*322del, NM_021738.3:c.*318_*322del, NM_021738.3:c.*319_*322del, NM_021738.3:c.*320_*322del, NM_021738.3:c.*321_*322del, NM_021738.3:c.*322del, NM_021738.3:c.*322dup, NM_021738.3:c.*321_*322dup, NM_021738.3:c.*320_*322dup, NM_021738.2:c.*317_*322del, NM_021738.2:c.*318_*322del, NM_021738.2:c.*319_*322del, NM_021738.2:c.*320_*322del, NM_021738.2:c.*321_*322del, NM_021738.2:c.*322del, NM_021738.2:c.*322dup, NM_021738.2:c.*321_*322dup, NM_021738.2:c.*320_*322dup, NM_003174.3:c.*317_*322del, NM_003174.3:c.*318_*322del, NM_003174.3:c.*319_*322del, NM_003174.3:c.*320_*322del, NM_003174.3:c.*321_*322del, NM_003174.3:c.*322del, NM_003174.3:c.*322dup, NM_003174.3:c.*321_*322dup, NM_003174.3:c.*320_*322dup, NM_001323599.2:c.*317_*322del, NM_001323599.2:c.*318_*322del, NM_001323599.2:c.*319_*322del, NM_001323599.2:c.*320_*322del, NM_001323599.2:c.*321_*322del, NM_001323599.2:c.*322del, NM_001323599.2:c.*322dup, NM_001323599.2:c.*321_*322dup, NM_001323599.2:c.*320_*322dup, NM_001323599.1:c.*317_*322del, NM_001323599.1:c.*318_*322del, NM_001323599.1:c.*319_*322del, NM_001323599.1:c.*320_*322del, NM_001323599.1:c.*321_*322del, NM_001323599.1:c.*322del, NM_001323599.1:c.*322dup, NM_001323599.1:c.*321_*322dup, NM_001323599.1:c.*320_*322dup, NM_001323600.1:c.*317_*322del, NM_001323600.1:c.*318_*322del, NM_001323600.1:c.*319_*322del, NM_001323600.1:c.*320_*322del, NM_001323600.1:c.*321_*322del, NM_001323600.1:c.*322del, NM_001323600.1:c.*322dup, NM_001323600.1:c.*321_*322dup, NM_001323600.1:c.*320_*322dup

Select item 14906840313.

rs1490684031 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 10:29458182 (GRCh38)
10:29747111 (GRCh37)
Canonical SPDI:: NC_000010.11:29458175:ATATATAT:ATATAT
Gene:: SVIL (Varview), SVIL-AS1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: ATATAT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.29458176AT[3], NC_000010.10:g.29747105AT[3], NG_033998.1:g.282619AT[3], NM_021738.3:c.*64AT[3], NM_021738.2:c.*64AT[3], NM_003174.3:c.*64AT[3], NM_001323599.2:c.*64AT[3], NM_001323599.1:c.*64AT[3], NM_001323600.1:c.*64AT[3]

Select item 14906341754.

rs1490634175 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:29488735 (GRCh38)
10:29777664 (GRCh37)
Canonical SPDI:: NC_000010.11:29488734:G:A
Gene:: SVIL (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000010.11:g.29488735G>A, NC_000010.10:g.29777664G>A, NG_033998.1:g.252067C>T, NM_021738.3:c.4214C>T, NM_021738.2:c.4214C>T, NM_003174.3:c.2936C>T, NM_001323599.2:c.3284C>T, NM_001323599.1:c.3284C>T, NM_001323600.1:c.3032C>T, NP_068506.2:p.Ser1405Leu, NP_003165.2:p.Ser979Leu, NP_001310528.1:p.Ser1095Leu, NP_001310529.1:p.Ser1011Leu

Select item 14897436585.

rs1489743658 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 10:29467745 (GRCh38)
10:29756674 (GRCh37)
Canonical SPDI:: NC_000010.11:29467744:G:C
Gene:: SVIL (Varview), SVIL-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant,intron_variant,genic_downstream_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_000010.11:g.29467745G>C, NC_000010.10:g.29756674G>C, NG_033998.1:g.273057C>G, NM_021738.3:c.5974C>G, NM_021738.2:c.5974C>G, NM_003174.3:c.4696C>G, NM_001323599.2:c.5044C>G, NM_001323599.1:c.5044C>G, NM_001323600.1:c.4792C>G, NR_110925.1:n.712G>C, NR_110926.1:n.687G>C, NP_068506.2:p.Gln1992Glu, NP_003165.2:p.Gln1566Glu, NP_001310528.1:p.Gln1682Glu, NP_001310529.1:p.Gln1598Glu

Select item 14897187166.

rs1489718716 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 10:29499241 (GRCh38)
10:29788170 (GRCh37)
Canonical SPDI:: NC_000010.11:29499240:C:A
Gene:: SVIL (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000026/7 (TOPMED)
HGVS:: NC_000010.11:g.29499241C>A, NC_000010.10:g.29788170C>A, NG_033998.1:g.241561G>T, NM_021738.3:c.3539G>T, NM_021738.2:c.3539G>T, NM_003174.3:c.2261G>T, NM_001323599.2:c.2609G>T, NM_001323599.1:c.2609G>T, NM_001323600.1:c.2357G>T, NP_068506.2:p.Ser1180Ile, NP_003165.2:p.Ser754Ile, NP_001310528.1:p.Ser870Ile, NP_001310529.1:p.Ser786Ile

Select item 14894205097.

rs1489420509 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 10:29555053 (GRCh38)
10:29843982 (GRCh37)
Canonical SPDI:: NC_000010.11:29555052:T:G
Gene:: SVIL (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.29555053T>G, NC_000010.10:g.29843982T>G, NG_033998.1:g.185749A>C, NM_021738.3:c.6A>C, NM_021738.2:c.6A>C, NM_003174.3:c.6A>C, NM_001323599.2:c.6A>C, NM_001323599.1:c.6A>C, NM_001323600.1:c.6A>C, NP_068506.2:p.Lys2Asn, NP_003165.2:p.Lys2Asn, NP_001310528.1:p.Lys2Asn, NP_001310529.1:p.Lys2Asn

Select item 14892173338.

rs1489217333 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATTAAGGTAGA>- [Show Flanks]
Chromosome:: 10:29457574 (GRCh38)
10:29746503 (GRCh37)
Canonical SPDI:: NC_000010.11:29457570:AGATATTAAGGTAGA:AGA
Gene:: SVIL (Varview), SVIL-AS1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGA=0.000071/1 (ALFA)
-=0.000057/15 (TOPMED)
-=0.000057/8 (GnomAD)
HGVS:: NC_000010.11:g.29457574_29457585del, NC_000010.10:g.29746503_29746514del, NG_033998.1:g.283220_283231del, NM_021738.3:c.*665_*676del, NM_021738.2:c.*665_*676del, NM_003174.3:c.*665_*676del, NM_001323599.2:c.*665_*676del, NM_001323599.1:c.*665_*676del, NM_001323600.1:c.*665_*676del

Select item 14886595429.

rs1488659542 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 10:29467793 (GRCh38)
10:29756722 (GRCh37)
Canonical SPDI:: NC_000010.11:29467792:A:T
Gene:: SVIL (Varview), SVIL-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.29467793A>T, NC_000010.10:g.29756722A>T, NG_033998.1:g.273009T>A, NM_021738.3:c.5926T>A, NM_021738.2:c.5926T>A, NM_003174.3:c.4648T>A, NM_001323599.2:c.4996T>A, NM_001323599.1:c.4996T>A, NM_001323600.1:c.4744T>A, NR_110925.1:n.760A>T, NR_110926.1:n.735A>T, NP_068506.2:p.Trp1976Arg, NP_003165.2:p.Trp1550Arg, NP_001310528.1:p.Trp1666Arg, NP_001310529.1:p.Trp1582Arg

Select item 148855014210.

rs1488550142 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:29550724 (GRCh38)
10:29839653 (GRCh37)
Canonical SPDI:: NC_000010.11:29550723:C:T
Gene:: SVIL (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.29550724C>T, NC_000010.10:g.29839653C>T, NG_033998.1:g.190078G>A, NM_021738.3:c.700G>A, NM_021738.2:c.700G>A, NM_003174.3:c.700G>A, NM_001323599.2:c.700G>A, NM_001323599.1:c.700G>A, NM_001323600.1:c.700G>A, NP_068506.2:p.Gly234Arg, NP_003165.2:p.Gly234Arg, NP_001310528.1:p.Gly234Arg, NP_001310529.1:p.Gly234Arg

Select item 148838649111.

rs1488386491 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 10:29529708 (GRCh38)
10:29818637 (GRCh37)
Canonical SPDI:: NC_000010.11:29529707:G:A,NC_000010.11:29529707:G:T
Gene:: SVIL (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.29529708G>A, NC_000010.11:g.29529708G>T, NC_000010.10:g.29818637G>A, NC_000010.10:g.29818637G>T, NG_033998.1:g.211094C>T, NG_033998.1:g.211094C>A, NM_021738.3:c.2243C>T, NM_021738.3:c.2243C>A, NM_021738.2:c.2243C>T, NM_021738.2:c.2243C>A, NM_003174.3:c.1061C>T, NM_003174.3:c.1061C>A, NM_001323599.2:c.1313C>T, NM_001323599.2:c.1313C>A, NM_001323599.1:c.1313C>T, NM_001323599.1:c.1313C>A, NM_001323600.1:c.1061C>T, NM_001323600.1:c.1061C>A, NP_068506.2:p.Ala748Val, NP_068506.2:p.Ala748Asp, NP_003165.2:p.Ala354Val, NP_003165.2:p.Ala354Asp, NP_001310528.1:p.Ala438Val, NP_001310528.1:p.Ala438Asp, NP_001310529.1:p.Ala354Val, NP_001310529.1:p.Ala354Asp

Select item 148797049812.

rs1487970498 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:29523905 (GRCh38)
10:29812834 (GRCh37)
Canonical SPDI:: NC_000010.11:29523904:A:G
Gene:: SVIL (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.29523905A>G, NC_000010.10:g.29812834A>G, NG_033998.1:g.216897T>C, NM_021738.3:c.2709T>C, NM_021738.2:c.2709T>C, NM_003174.3:c.1431T>C, NM_001323599.2:c.1779T>C, NM_001323599.1:c.1779T>C, NM_001323600.1:c.1527T>C

Select item 148681859813.

rs1486818598 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 10:29524026 (GRCh38)
10:29812955 (GRCh37)
Canonical SPDI:: NC_000010.11:29524025:A:C,NC_000010.11:29524025:A:T
Gene:: SVIL (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000010.11:g.29524026A>C, NC_000010.11:g.29524026A>T, NC_000010.10:g.29812955A>C, NC_000010.10:g.29812955A>T, NG_033998.1:g.216776T>G, NG_033998.1:g.216776T>A, NM_021738.3:c.2588T>G, NM_021738.3:c.2588T>A, NM_021738.2:c.2588T>G, NM_021738.2:c.2588T>A, NM_003174.3:c.1310T>G, NM_003174.3:c.1310T>A, NM_001323599.2:c.1658T>G, NM_001323599.2:c.1658T>A, NM_001323599.1:c.1658T>G, NM_001323599.1:c.1658T>A, NM_001323600.1:c.1406T>G, NM_001323600.1:c.1406T>A, NP_068506.2:p.Val863Gly, NP_068506.2:p.Val863Glu, NP_003165.2:p.Val437Gly, NP_003165.2:p.Val437Glu, NP_001310528.1:p.Val553Gly, NP_001310528.1:p.Val553Glu, NP_001310529.1:p.Val469Gly, NP_001310529.1:p.Val469Glu

Select item 148641586614.

rs1486415866 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GCA [Show Flanks]
Chromosome:: 10:29493366 (GRCh38)
10:29782296 (GRCh37)
Canonical SPDI:: NC_000010.11:29493366:AGCA:AGCAGCA
Gene:: SVIL (Varview)
Functional Consequence:: coding_sequence_variant,inframe_insertion
Validated:: by frequency,by alfa
MAF:: AGCAGCA=0./0 (ALFA)
AGC=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.29493368_29493370dup, NC_000010.10:g.29782297_29782299dup, NG_033998.1:g.247433_247435dup, NM_021738.3:c.3864_3866dup, NM_021738.2:c.3864_3866dup, NM_003174.3:c.2586_2588dup, NM_001323599.2:c.2934_2936dup, NM_001323599.1:c.2934_2936dup, NM_001323600.1:c.2682_2684dup, NP_068506.2:p.Leu1289dup, NP_003165.2:p.Leu863dup, NP_001310528.1:p.Leu979dup, NP_001310529.1:p.Leu895dup

Select item 148584040215.

rs1485840402 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 10:29523736 (GRCh38)
10:29812665 (GRCh37)
Canonical SPDI:: NC_000010.11:29523735:C:G
Gene:: SVIL (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000142/2 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000015/4 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000010.11:g.29523736C>G, NC_000010.10:g.29812665C>G, NG_033998.1:g.217066G>C, NM_021738.3:c.2878G>C, NM_021738.2:c.2878G>C, NM_003174.3:c.1600G>C, NM_001323599.2:c.1948G>C, NM_001323599.1:c.1948G>C, NM_001323600.1:c.1696G>C, NP_068506.2:p.Asp960His, NP_003165.2:p.Asp534His, NP_001310528.1:p.Asp650His, NP_001310529.1:p.Asp566His

Select item 148580042916.

rs1485800429 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 10:29554789 (GRCh38)
10:29843718 (GRCh37)
Canonical SPDI:: NC_000010.11:29554788:G:T
Gene:: SVIL (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000010.11:g.29554789G>T, NC_000010.10:g.29843718G>T, NG_033998.1:g.186013C>A, NM_021738.3:c.154C>A, NM_021738.2:c.154C>A, NM_003174.3:c.154C>A, NM_001323599.2:c.154C>A, NM_001323599.1:c.154C>A, NM_001323600.1:c.154C>A, NP_068506.2:p.His52Asn, NP_003165.2:p.His52Asn, NP_001310528.1:p.His52Asn, NP_001310529.1:p.His52Asn

Select item 148531830717.

rs1485318307 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:29458125 (GRCh38)
10:29747054 (GRCh37)
Canonical SPDI:: NC_000010.11:29458124:G:A
Gene:: SVIL (Varview), SVIL-AS1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000010.11:g.29458125G>A, NC_000010.10:g.29747054G>A, NG_033998.1:g.282677C>T, NM_021738.3:c.*122C>T, NM_021738.2:c.*122C>T, NM_003174.3:c.*122C>T, NM_001323599.2:c.*122C>T, NM_001323599.1:c.*122C>T, NM_001323600.1:c.*122C>T

Select item 148472296518.

rs1484722965 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 10:29550730 (GRCh38)
10:29839659 (GRCh37)
Canonical SPDI:: NC_000010.11:29550729:A:T
Gene:: SVIL (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000671/3 (ALFA)
T=0.000007/1 (GnomAD)
T=0.00067/3 (Estonian)
HGVS:: NC_000010.11:g.29550730A>T, NC_000010.10:g.29839659A>T, NG_033998.1:g.190072T>A, NM_021738.3:c.694T>A, NM_021738.2:c.694T>A, NM_003174.3:c.694T>A, NM_001323599.2:c.694T>A, NM_001323599.1:c.694T>A, NM_001323600.1:c.694T>A, NP_068506.2:p.Phe232Ile, NP_003165.2:p.Phe232Ile, NP_001310528.1:p.Phe232Ile, NP_001310529.1:p.Phe232Ile

Select item 148430239319.

rs1484302393 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 10:29529784 (GRCh38)
10:29818713 (GRCh37)
Canonical SPDI:: NC_000010.11:29529783:C:G,NC_000010.11:29529783:C:T
Gene:: SVIL (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.29529784C>G, NC_000010.11:g.29529784C>T, NC_000010.10:g.29818713C>G, NC_000010.10:g.29818713C>T, NG_033998.1:g.211018G>C, NG_033998.1:g.211018G>A, NM_021738.3:c.2167G>C, NM_021738.3:c.2167G>A, NM_021738.2:c.2167G>C, NM_021738.2:c.2167G>A, NM_003174.3:c.985G>C, NM_003174.3:c.985G>A, NM_001323599.2:c.1237G>C, NM_001323599.2:c.1237G>A, NM_001323599.1:c.1237G>C, NM_001323599.1:c.1237G>A, NM_001323600.1:c.985G>C, NM_001323600.1:c.985G>A, NP_068506.2:p.Val723Leu, NP_068506.2:p.Val723Met, NP_003165.2:p.Val329Leu, NP_003165.2:p.Val329Met, NP_001310528.1:p.Val413Leu, NP_001310528.1:p.Val413Met, NP_001310529.1:p.Val329Leu, NP_001310529.1:p.Val329Met

Select item 148391266620.

rs1483912666 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 10:29465744 (GRCh38)
10:29754673 (GRCh37)
Canonical SPDI:: NC_000010.11:29465743:C:G
Gene:: SVIL (Varview), SVIL-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.29465744C>G, NC_000010.10:g.29754673C>G, NG_033998.1:g.275058G>C, NM_021738.3:c.5984G>C, NM_021738.2:c.5984G>C, NM_003174.3:c.4706G>C, NM_001323599.2:c.5054G>C, NM_001323599.1:c.5054G>C, NM_001323600.1:c.4802G>C, NP_068506.2:p.Gly1995Ala, NP_003165.2:p.Gly1569Ala, NP_001310528.1:p.Gly1685Ala, NP_001310529.1:p.Gly1601Ala

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