SNP Links for Gene (Select 10800) - SNP

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Select item 14915294091.

rs1491529409 [Homo sapiens]

Variant type:: DEL
Alleles:: CG>- [Show Flanks]
Chromosome:: X:78321136 (GRCh38)
X:77576633 (GRCh37)
Canonical SPDI:: NC_000023.11:78321135:CG:
Gene:: CYSLTR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000023.11:g.78321136_78321137del, NC_000023.10:g.77576633_77576634del, NG_012809.1:g.11454_11455del

Select item 14914504982.

rs1491450498 has merged into rs56157358 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGTGTGTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: X:78321153 (GRCh38)
X:77576650 (GRCh37)
Canonical SPDI:: NC_000023.11:78321136:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGT,NC_000023.11:78321136:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGT,NC_000023.11:78321136:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGT,NC_000023.11:78321136:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:78321136:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:78321136:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:78321136:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:78321136:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:78321136:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:78321136:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:78321136:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:78321136:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:78321136:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:78321136:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:78321136:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:78321136:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:78321136:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: CYSLTR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGTGTGTGT=0./0 (ALFA)
-=0.1028/297 (ALSPAC)
-=0.4543/1715 (1000Genomes)
HGVS:: NC_000023.11:g.78321137GT[8], NC_000023.11:g.78321137GT[9], NC_000023.11:g.78321137GT[10], NC_000023.11:g.78321137GT[11], NC_000023.11:g.78321137GT[12], NC_000023.11:g.78321137GT[13], NC_000023.11:g.78321137GT[14], NC_000023.11:g.78321137GT[15], NC_000023.11:g.78321137GT[16], NC_000023.11:g.78321137GT[17], NC_000023.11:g.78321137GT[18], NC_000023.11:g.78321137GT[20], NC_000023.11:g.78321137GT[21], NC_000023.11:g.78321137GT[22], NC_000023.11:g.78321137GT[23], NC_000023.11:g.78321137GT[24], NC_000023.11:g.78321137GT[25], NC_000023.10:g.77576634GT[8], NC_000023.10:g.77576634GT[9], NC_000023.10:g.77576634GT[10], NC_000023.10:g.77576634GT[11], NC_000023.10:g.77576634GT[12], NC_000023.10:g.77576634GT[13], NC_000023.10:g.77576634GT[14], NC_000023.10:g.77576634GT[15], NC_000023.10:g.77576634GT[16], NC_000023.10:g.77576634GT[17], NC_000023.10:g.77576634GT[18], NC_000023.10:g.77576634GT[20], NC_000023.10:g.77576634GT[21], NC_000023.10:g.77576634GT[22], NC_000023.10:g.77576634GT[23], NC_000023.10:g.77576634GT[24], NC_000023.10:g.77576634GT[25], NG_012809.1:g.11417AC[8], NG_012809.1:g.11417AC[9], NG_012809.1:g.11417AC[10], NG_012809.1:g.11417AC[11], NG_012809.1:g.11417AC[12], NG_012809.1:g.11417AC[13], NG_012809.1:g.11417AC[14], NG_012809.1:g.11417AC[15], NG_012809.1:g.11417AC[16], NG_012809.1:g.11417AC[17], NG_012809.1:g.11417AC[18], NG_012809.1:g.11417AC[20], NG_012809.1:g.11417AC[21], NG_012809.1:g.11417AC[22], NG_012809.1:g.11417AC[23], NG_012809.1:g.11417AC[24], NG_012809.1:g.11417AC[25]

Select item 14914357873.

rs1491435787 has merged into rs377272877 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>-,G,GGG,GGGG,GGGGG [Show Flanks]
Chromosome:: X:78280534 (GRCh38)
X:77536031 (GRCh37)
Canonical SPDI:: NC_000023.11:78280525:GGGGGGGGGG:GGGGGGGG,NC_000023.11:78280525:GGGGGGGGGG:GGGGGGGGG,NC_000023.11:78280525:GGGGGGGGGG:GGGGGGGGGGG,NC_000023.11:78280525:GGGGGGGGGG:GGGGGGGGGGGG,NC_000023.11:78280525:GGGGGGGGGG:GGGGGGGGGGGGG
Gene:: CYSLTR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGGGGGGG=0./0 (ALFA)
-=0.000015/4 (TOPMED)
HGVS:: NC_000023.11:g.78280534_78280535del, NC_000023.11:g.78280535del, NC_000023.11:g.78280535dup, NC_000023.11:g.78280534_78280535dup, NC_000023.11:g.78280533_78280535dup, NC_000023.10:g.77536031_77536032del, NC_000023.10:g.77536032del, NC_000023.10:g.77536032dup, NC_000023.10:g.77536031_77536032dup, NC_000023.10:g.77536030_77536032dup, NG_012809.1:g.52064_52065del, NG_012809.1:g.52065del, NG_012809.1:g.52065dup, NG_012809.1:g.52064_52065dup, NG_012809.1:g.52063_52065dup

Select item 14913699864.

rs1491369986 has merged into rs36092711 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT [Show Flanks]
Chromosome:: X:78295382 (GRCh38)
X:77550879 (GRCh37)
Canonical SPDI:: NC_000023.11:78295370:TTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000023.11:78295370:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000023.11:78295370:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000023.11:78295370:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000023.11:78295370:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000023.11:78295370:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000023.11:78295370:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000023.11:78295370:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
Gene:: CYSLTR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
TT=0.346/1306 (1000Genomes)
HGVS:: NC_000023.11:g.78295382_78295387del, NC_000023.11:g.78295383_78295387del, NC_000023.11:g.78295384_78295387del, NC_000023.11:g.78295385_78295387del, NC_000023.11:g.78295386_78295387del, NC_000023.11:g.78295387del, NC_000023.11:g.78295387dup, NC_000023.11:g.78295386_78295387dup, NC_000023.10:g.77550879_77550884del, NC_000023.10:g.77550880_77550884del, NC_000023.10:g.77550881_77550884del, NC_000023.10:g.77550882_77550884del, NC_000023.10:g.77550883_77550884del, NC_000023.10:g.77550884del, NC_000023.10:g.77550884dup, NC_000023.10:g.77550883_77550884dup, NG_012809.1:g.37215_37220del, NG_012809.1:g.37216_37220del, NG_012809.1:g.37217_37220del, NG_012809.1:g.37218_37220del, NG_012809.1:g.37219_37220del, NG_012809.1:g.37220del, NG_012809.1:g.37220dup, NG_012809.1:g.37219_37220dup

Select item 14912184855.

rs1491218485 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: X:78280525 (GRCh38)
X:77536022 (GRCh37)
Canonical SPDI:: NC_000023.11:78280524:TG:
Gene:: CYSLTR1 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000023.11:g.78280525_78280526del, NC_000023.10:g.77536022_77536023del, NG_012809.1:g.52065_52066del

Select item 14910798676.

rs1491079867 has merged into rs61463264 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: X:78284770 (GRCh38)
X:77540267 (GRCh37)
Canonical SPDI:: NC_000023.11:78284759:AAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000023.11:78284759:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000023.11:78284759:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000023.11:78284759:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000023.11:78284759:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000023.11:78284759:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000023.11:78284759:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:78284759:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:78284759:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CYSLTR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
-=0.2046/591 (ALSPAC)
-=0.2079/771 (TWINSUK)
A=0.4925/1859 (1000Genomes)
HGVS:: NC_000023.11:g.78284770_78284775del, NC_000023.11:g.78284774_78284775del, NC_000023.11:g.78284775del, NC_000023.11:g.78284775dup, NC_000023.11:g.78284774_78284775dup, NC_000023.11:g.78284773_78284775dup, NC_000023.11:g.78284768_78284775dup, NC_000023.11:g.78284767_78284775dup, NC_000023.11:g.78284761_78284775dup, NC_000023.10:g.77540267_77540272del, NC_000023.10:g.77540271_77540272del, NC_000023.10:g.77540272del, NC_000023.10:g.77540272dup, NC_000023.10:g.77540271_77540272dup, NC_000023.10:g.77540270_77540272dup, NC_000023.10:g.77540265_77540272dup, NC_000023.10:g.77540264_77540272dup, NC_000023.10:g.77540258_77540272dup, NG_012809.1:g.47826_47831del, NG_012809.1:g.47830_47831del, NG_012809.1:g.47831del, NG_012809.1:g.47831dup, NG_012809.1:g.47830_47831dup, NG_012809.1:g.47829_47831dup, NG_012809.1:g.47824_47831dup, NG_012809.1:g.47823_47831dup, NG_012809.1:g.47817_47831dup

Select item 14909553657.

rs1490955365 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:78287967 (GRCh38)
X:77543464 (GRCh37)
Canonical SPDI:: NC_000023.11:78287966:T:C
Gene:: CYSLTR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000285/4 (ALFA)
C=0.000019/5 (TOPMED)
C=0.000048/5 (GnomAD)
HGVS:: NC_000023.11:g.78287967T>C, NC_000023.10:g.77543464T>C, NG_012809.1:g.44624A>G

Select item 14909499158.

rs1490949915 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:78277019 (GRCh38)
X:77532516 (GRCh37)
Canonical SPDI:: NC_000023.11:78277018:C:T
Gene:: CYSLTR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.00009/1 (TOMMO)
HGVS:: NC_000023.11:g.78277019C>T, NC_000023.10:g.77532516C>T, NG_012809.1:g.55572G>A

Select item 14908426659.

rs1490842665 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:78290308 (GRCh38)
X:77545805 (GRCh37)
Canonical SPDI:: NC_000023.11:78290307:T:C
Gene:: CYSLTR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.78290308T>C, NC_000023.10:g.77545805T>C, NG_012809.1:g.42283A>G

Select item 149060898710.

rs1490608987 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:78316030 (GRCh38)
X:77571527 (GRCh37)
Canonical SPDI:: NC_000023.11:78316029:T:C
Gene:: CYSLTR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000008/2 (TOPMED)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.78316030T>C, NC_000023.10:g.77571527T>C, NG_012809.1:g.16561A>G

Select item 149048446411.

rs1490484464 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: X:78322735 (GRCh38)
X:77578232 (GRCh37)
Canonical SPDI:: NC_000023.11:78322734:TTT:TT
Gene:: CYSLTR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.78322737del, NC_000023.10:g.77578234del, NG_012809.1:g.9856del

Select item 149043967012.

rs1490439670 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: X:78287585 (GRCh38)
X:77543082 (GRCh37)
Canonical SPDI:: NC_000023.11:78287584:TTTTT:TTTT
Gene:: CYSLTR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.78287589del, NC_000023.10:g.77543086del, NG_012809.1:g.45006del

Select item 149030879613.

rs1490308796 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:78303661 (GRCh38)
X:77559158 (GRCh37)
Canonical SPDI:: NC_000023.11:78303660:C:A
Gene:: CYSLTR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.78303661C>A, NC_000023.10:g.77559158C>A, NG_012809.1:g.28930G>T

Select item 149028299714.

rs1490282997 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:78302424 (GRCh38)
X:77557921 (GRCh37)
Canonical SPDI:: NC_000023.11:78302423:G:T
Gene:: CYSLTR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.78302424G>T, NC_000023.10:g.77557921G>T, NG_012809.1:g.30167C>A

Select item 149016720615.

rs1490167206 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: X:78294394 (GRCh38)
X:77549891 (GRCh37)
Canonical SPDI:: NC_000023.11:78294393:C:A,NC_000023.11:78294393:C:T
Gene:: CYSLTR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000029/3 (GnomAD)
HGVS:: NC_000023.11:g.78294394C>A, NC_000023.11:g.78294394C>T, NC_000023.10:g.77549891C>A, NC_000023.10:g.77549891C>T, NG_012809.1:g.38197G>T, NG_012809.1:g.38197G>A

Select item 149013677716.

rs1490136777 [Homo sapiens]

Variant type:: INS
Alleles:: ->CCC [Show Flanks]
Chromosome:: X:78289166 (GRCh38)
X:77544664 (GRCh37)
Canonical SPDI:: NC_000023.11:78289166::CCC
Gene:: CYSLTR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CCC=0./0 (ALFA)
CCC=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.78289166_78289167insCCC, NC_000023.10:g.77544663_77544664insCCC, NG_012809.1:g.43424_43425insGGG

Select item 149003143917.

rs1490031439 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:78313883 (GRCh38)
X:77569380 (GRCh37)
Canonical SPDI:: NC_000023.11:78313882:G:A
Gene:: CYSLTR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000057/15 (TOPMED)
HGVS:: NC_000023.11:g.78313883G>A, NC_000023.10:g.77569380G>A, NG_012809.1:g.18708C>T

Select item 149000364918.

rs1490003649 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: X:78293866 (GRCh38)
X:77549363 (GRCh37)
Canonical SPDI:: NC_000023.11:78293865:A:G,NC_000023.11:78293865:A:T
Gene:: CYSLTR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000015/4 (TOPMED)
G=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.78293866A>G, NC_000023.11:g.78293866A>T, NC_000023.10:g.77549363A>G, NC_000023.10:g.77549363A>T, NG_012809.1:g.38725T>C, NG_012809.1:g.38725T>A

Select item 148999881219.

rs1489998812 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:78292910 (GRCh38)
X:77548407 (GRCh37)
Canonical SPDI:: NC_000023.11:78292909:T:C
Gene:: CYSLTR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000019/2 (GnomAD)
C=0.000045/12 (TOPMED)
HGVS:: NC_000023.11:g.78292910T>C, NC_000023.10:g.77548407T>C, NG_012809.1:g.39681A>G

Select item 148998014020.

rs1489980140 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:78290247 (GRCh38)
X:77545744 (GRCh37)
Canonical SPDI:: NC_000023.11:78290246:G:A
Gene:: CYSLTR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.78290247G>A, NC_000023.10:g.77545744G>A, NG_012809.1:g.42344C>T

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