SNP Links for Gene (Select 100506392) - SNP

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Select item 14915411181.

rs1491541118 has merged into rs370040391 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA [Show Flanks]
Chromosome:: 1:112955266 (GRCh38)
1:113497888 (GRCh37)
Canonical SPDI:: NC_000001.11:112955257:AAAAAAAAAAA:AAAAAAAA,NC_000001.11:112955257:AAAAAAAAAAA:AAAAAAAAA,NC_000001.11:112955257:AAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:112955257:AAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:112955257:AAAAAAAAAAA:AAAAAAAAAAAAA
Gene:: SLC16A1 (Varview), SLC16A1-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0.00017/3 (ALFA)
-=0.038845/10282 (TOPMED)
HGVS:: NC_000001.11:g.112955266_112955268del, NC_000001.11:g.112955267_112955268del, NC_000001.11:g.112955268del, NC_000001.11:g.112955268dup, NC_000001.11:g.112955267_112955268dup, NC_000001.10:g.113497888_113497890del, NC_000001.10:g.113497889_113497890del, NC_000001.10:g.113497890del, NC_000001.10:g.113497890dup, NC_000001.10:g.113497889_113497890dup, NG_015880.2:g.5669_5671del, NG_015880.2:g.5670_5671del, NG_015880.2:g.5671del, NG_015880.2:g.5671dup, NG_015880.2:g.5670_5671dup, NW_009646196.1:g.45845_45847del, NW_009646196.1:g.45846_45847del, NW_009646196.1:g.45847del, NW_009646196.1:g.45847dup, NW_009646196.1:g.45846_45847dup

Select item 14914403532.

rs1491440353 has merged into rs71590528 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:112963435 (GRCh38)
1:113506057 (GRCh37)
Canonical SPDI:: NC_000001.11:112963426:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000001.11:112963426:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000001.11:112963426:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:112963426:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:112963426:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:112963426:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:112963426:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:112963426:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:112963426:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:112963426:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:112963426:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:112963426:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:112963426:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:112963426:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:112963426:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:112963426:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:112963426:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:112963426:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:112963426:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:112963426:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:112963426:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:112963426:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:112963426:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:112963426:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: SLC16A1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
HGVS:: NC_000001.11:g.112963435_112963449del, NC_000001.11:g.112963437_112963449del, NC_000001.11:g.112963438_112963449del, NC_000001.11:g.112963439_112963449del, NC_000001.11:g.112963440_112963449del, NC_000001.11:g.112963441_112963449del, NC_000001.11:g.112963442_112963449del, NC_000001.11:g.112963443_112963449del, NC_000001.11:g.112963444_112963449del, NC_000001.11:g.112963445_112963449del, NC_000001.11:g.112963446_112963449del, NC_000001.11:g.112963447_112963449del, NC_000001.11:g.112963448_112963449del, NC_000001.11:g.112963449del, NC_000001.11:g.112963449dup, NC_000001.11:g.112963448_112963449dup, NC_000001.11:g.112963447_112963449dup, NC_000001.11:g.112963446_112963449dup, NC_000001.11:g.112963427_112963449T[27]GTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000001.11:g.112963445_112963449dup, NC_000001.11:g.112963444_112963449dup, NC_000001.11:g.112963443_112963449dup, NC_000001.11:g.112963442_112963449dup, NC_000001.11:g.112963449_112963450insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.113506057_113506071del, NC_000001.10:g.113506059_113506071del, NC_000001.10:g.113506060_113506071del, NC_000001.10:g.113506061_113506071del, NC_000001.10:g.113506062_113506071del, NC_000001.10:g.113506063_113506071del, NC_000001.10:g.113506064_113506071del, NC_000001.10:g.113506065_113506071del, NC_000001.10:g.113506066_113506071del, NC_000001.10:g.113506067_113506071del, NC_000001.10:g.113506068_113506071del, NC_000001.10:g.113506069_113506071del, NC_000001.10:g.113506070_113506071del, NC_000001.10:g.113506071del, NC_000001.10:g.113506071dup, NC_000001.10:g.113506070_113506071dup, NC_000001.10:g.113506069_113506071dup, NC_000001.10:g.113506068_113506071dup, NC_000001.10:g.113506049_113506071T[27]GTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000001.10:g.113506067_113506071dup, NC_000001.10:g.113506066_113506071dup, NC_000001.10:g.113506065_113506071dup, NC_000001.10:g.113506064_113506071dup, NC_000001.10:g.113506071_113506072insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_009646196.1:g.54014_54028del, NW_009646196.1:g.54016_54028del, NW_009646196.1:g.54017_54028del, NW_009646196.1:g.54018_54028del, NW_009646196.1:g.54019_54028del, NW_009646196.1:g.54020_54028del, NW_009646196.1:g.54021_54028del, NW_009646196.1:g.54022_54028del, NW_009646196.1:g.54023_54028del, NW_009646196.1:g.54024_54028del, NW_009646196.1:g.54025_54028del, NW_009646196.1:g.54026_54028del, NW_009646196.1:g.54027_54028del, NW_009646196.1:g.54028del, NW_009646196.1:g.54028dup, NW_009646196.1:g.54027_54028dup, NW_009646196.1:g.54026_54028dup, NW_009646196.1:g.54025_54028dup, NW_009646196.1:g.54006_54028T[27]GTTTTTTTTTTTTTTTTTTTTTTT[1], NW_009646196.1:g.54024_54028dup, NW_009646196.1:g.54023_54028dup, NW_009646196.1:g.54022_54028dup, NW_009646196.1:g.54021_54028dup, NW_009646196.1:g.54028_54029insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14914208933.

rs1491420893 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 1:112955257 (GRCh38)
1:113497879 (GRCh37)
Canonical SPDI:: NC_000001.11:112955256:GA:
Gene:: SLC16A1 (Varview), SLC16A1-AS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000058/8 (GnomAD)
HGVS:: NC_000001.11:g.112955257_112955258del, NC_000001.10:g.113497879_113497880del, NG_015880.2:g.5671_5672del, NW_009646196.1:g.45836_45837del

Select item 14912197564.

rs1491219756 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTTT [Show Flanks]
Chromosome:: 1:112963427 (GRCh38)
1:113506050 (GRCh37)
Canonical SPDI:: NC_000001.11:112963427:TTT:TTTCTTT
Gene:: SLC16A1-AS1 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000001.11:g.112963430_112963431insCTTT, NC_000001.10:g.113506052_113506053insCTTT, NW_009646196.1:g.54009_54010insCTTT

Select item 14907952805.

rs1490795280 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:112959361 (GRCh38)
1:113501983 (GRCh37)
Canonical SPDI:: NC_000001.11:112959360:C:T
Gene:: SLC16A1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.112959361C>T, NC_000001.10:g.113501983C>T, NG_015880.2:g.1568G>A, NW_009646196.1:g.49940C>T

Select item 14904553126.

rs1490455312 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 1:112964297 (GRCh38)
1:113506919 (GRCh37)
Canonical SPDI:: NC_000001.11:112964296:T:A,NC_000001.11:112964296:T:C
Gene:: SLC16A1-AS1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.112964297T>A, NC_000001.11:g.112964297T>C, NC_000001.10:g.113506919T>A, NC_000001.10:g.113506919T>C, NW_009646196.1:g.54876T>A, NW_009646196.1:g.54876T>C

Select item 14903150447.

rs1490315044 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:112958102 (GRCh38)
1:113500724 (GRCh37)
Canonical SPDI:: NC_000001.11:112958101:G:A
Gene:: SLC16A1 (Varview), SLC16A1-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_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_000001.11:g.112958102G>A, NC_000001.10:g.113500724G>A, NG_015880.2:g.2827C>T, NW_009646196.1:g.48681G>A

Select item 14902795608.

rs1490279560 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:112959104 (GRCh38)
1:113501726 (GRCh37)
Canonical SPDI:: NC_000001.11:112959103:G:C
Gene:: SLC16A1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.112959104G>C, NC_000001.10:g.113501726G>C, NG_015880.2:g.1825C>G, NW_009646196.1:g.49683G>C

Select item 14902778979.

rs1490277897 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:112963149 (GRCh38)
1:113505771 (GRCh37)
Canonical SPDI:: NC_000001.11:112963148:C:A,NC_000001.11:112963148:C:T
Gene:: SLC16A1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000036/5 (GnomAD)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000001.11:g.112963149C>A, NC_000001.11:g.112963149C>T, NC_000001.10:g.113505771C>A, NC_000001.10:g.113505771C>T, NW_009646196.1:g.53728C>A, NW_009646196.1:g.53728C>T

Select item 148965014210.

rs1489650142 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:112964501 (GRCh38)
1:113507123 (GRCh37)
Canonical SPDI:: NC_000001.11:112964500:G:A,NC_000001.11:112964500:G:T
Gene:: SLC16A1-AS1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000064/17 (TOPMED)
HGVS:: NC_000001.11:g.112964501G>A, NC_000001.11:g.112964501G>T, NC_000001.10:g.113507123G>A, NC_000001.10:g.113507123G>T, NW_009646196.1:g.55080G>A, NW_009646196.1:g.55080G>T

Select item 148885342911.

rs1488853429 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:112957455 (GRCh38)
1:113500077 (GRCh37)
Canonical SPDI:: NC_000001.11:112957454:C:G
Gene:: SLC16A1 (Varview), SLC16A1-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_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_000001.11:g.112957455C>G, NC_000001.10:g.113500077C>G, NG_015880.2:g.3474G>C, NW_009646196.1:g.48034C>G, NR_103743.1:n.1041C>G

Select item 148797917712.

rs1487979177 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:112956354 (GRCh38)
1:113498976 (GRCh37)
Canonical SPDI:: NC_000001.11:112956353:A:G
Gene:: SLC16A1 (Varview), SLC16A1-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_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_000001.11:g.112956354A>G, NC_000001.10:g.113498976A>G, NG_015880.2:g.4575T>C, NW_009646196.1:g.46933A>G

Select item 148790025513.

rs1487900255 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:112956721 (GRCh38)
1:113499343 (GRCh37)
Canonical SPDI:: NC_000001.11:112956720:G:A
Gene:: SLC16A1 (Varview), SLC16A1-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_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_000001.11:g.112956721G>A, NC_000001.10:g.113499343G>A, NG_015880.2:g.4208C>T, NW_009646196.1:g.47300G>A, NR_103743.1:n.307G>A, NR_103744.1:n.307G>A

Select item 148732032614.

rs1487320326 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 1:112960499 (GRCh38)
1:113503121 (GRCh37)
Canonical SPDI:: NC_000001.11:112960498:T:
Gene:: SLC16A1-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.112960499del, NC_000001.10:g.113503121del, NG_015880.2:g.430del, NW_009646196.1:g.51078del, NR_103743.1:n.1331del, NR_103744.1:n.565del

Select item 148726806415.

rs1487268064 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:112959434 (GRCh38)
1:113502056 (GRCh37)
Canonical SPDI:: NC_000001.11:112959433:C:G,NC_000001.11:112959433:C:T
Gene:: SLC16A1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.112959434C>G, NC_000001.11:g.112959434C>T, NC_000001.10:g.113502056C>G, NC_000001.10:g.113502056C>T, NG_015880.2:g.1495G>C, NG_015880.2:g.1495G>A, NW_009646196.1:g.50013C>G, NW_009646196.1:g.50013C>T

Select item 148710072816.

rs1487100728 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 1:112963386 (GRCh38)
1:113506008 (GRCh37)
Canonical SPDI:: NC_000001.11:112963385:A:G,NC_000001.11:112963385:A:T
Gene:: SLC16A1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000015/4 (TOPMED)
T=0.016085/47 (KOREAN)
HGVS:: NC_000001.11:g.112963386A>G, NC_000001.11:g.112963386A>T, NC_000001.10:g.113506008A>G, NC_000001.10:g.113506008A>T, NW_009646196.1:g.53965A>G, NW_009646196.1:g.53965A>T

Select item 148638276217.

rs1486382762 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:112958196 (GRCh38)
1:113500818 (GRCh37)
Canonical SPDI:: NC_000001.11:112958195:C:T
Gene:: SLC16A1 (Varview), SLC16A1-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000001.11:g.112958196C>T, NC_000001.10:g.113500818C>T, NG_015880.2:g.2733G>A, NW_009646196.1:g.48775C>T

Select item 148637730618.

rs1486377306 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:112955918 (GRCh38)
1:113498540 (GRCh37)
Canonical SPDI:: NC_000001.11:112955917:C:T
Gene:: SLC16A1 (Varview), SLC16A1-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,5_prime_UTR_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.112955918C>T, NC_000001.10:g.113498540C>T, NG_015880.2:g.5011G>A, NM_001166496.2:c.-687G>A, NM_001166496.1:c.-687G>A, NW_009646196.1:g.46497C>T

Select item 148632722019.

rs1486327220 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 1:112955986 (GRCh38)
1:113498608 (GRCh37)
Canonical SPDI:: NC_000001.11:112955985:GGG:GG
Gene:: SLC16A1 (Varview), SLC16A1-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,5_prime_UTR_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.112955988del, NC_000001.10:g.113498610del, NG_015880.2:g.4943del, NM_001166496.2:c.-755del, NM_001166496.1:c.-755del, NW_009646196.1:g.46567del

Select item 148601846520.

rs1486018465 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:112963723 (GRCh38)
1:113506345 (GRCh37)
Canonical SPDI:: NC_000001.11:112963722:G:A
Gene:: SLC16A1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.112963723G>A, NC_000001.10:g.113506345G>A, NW_009646196.1:g.54302G>A

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