SNP Links for Gene (Select 284274) - SNP

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Select item 14915122481.

rs1491512248 has merged into rs150399683 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACACACACA>-,CACA,CACACA,CACACACA,CACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACATACACACACACACACACACACA [Show Flanks]
Chromosome:: 18:75414130 (GRCh38)
18:73126085 (GRCh37)
Canonical SPDI:: NC_000018.10:75414122:ACACACACACACACACACA:ACACACA,NC_000018.10:75414122:ACACACACACACACACACA:ACACACACACA,NC_000018.10:75414122:ACACACACACACACACACA:ACACACACACACA,NC_000018.10:75414122:ACACACACACACACACACA:ACACACACACACACA,NC_000018.10:75414122:ACACACACACACACACACA:ACACACACACACACACA,NC_000018.10:75414122:ACACACACACACACACACA:ACACACACACACACACACACA,NC_000018.10:75414122:ACACACACACACACACACA:ACACACACACACACACACACACA,NC_000018.10:75414122:ACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000018.10:75414122:ACACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000018.10:75414122:ACACACACACACACACACA:ACACACACACACACACACACATACACACACACACACACACACA
Gene:: SMIM21 (Varview), LOC105372200 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACACA=0./0 (ALFA)
-=0.25/2 (KOREAN)
HGVS:: NC_000018.10:g.75414124CA[3], NC_000018.10:g.75414124CA[5], NC_000018.10:g.75414124CA[6], NC_000018.10:g.75414124CA[7], NC_000018.10:g.75414124CA[8], NC_000018.10:g.75414124CA[10], NC_000018.10:g.75414124CA[11], NC_000018.10:g.75414124CA[12], NC_000018.10:g.75414124CA[13], NC_000018.10:g.75414123_75414141AC[10]ATACACACACACACACACACACA[1], NC_000018.9:g.73126079CA[3], NC_000018.9:g.73126079CA[5], NC_000018.9:g.73126079CA[6], NC_000018.9:g.73126079CA[7], NC_000018.9:g.73126079CA[8], NC_000018.9:g.73126079CA[10], NC_000018.9:g.73126079CA[11], NC_000018.9:g.73126079CA[12], NC_000018.9:g.73126079CA[13], NC_000018.9:g.73126078_73126096AC[10]ATACACACACACACACACACACA[1]

Select item 14914558372.

rs1491455837 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->C
Chromosome:: no mapping
Canonical SPDI:

Select item 14914380073.

rs1491438007 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 18:75450224 (GRCh38)
18:73162180 (GRCh37)
Canonical SPDI:: NC_000018.10:75450224::T
Gene:: LOC124900405 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000022/3 (GnomAD)
T=0.000023/6 (TOPMED)
T=0.000531/9 (TOMMO)
HGVS:: NC_000018.10:g.75450224_75450225insT, NC_000018.9:g.73162179_73162180insT

Select item 14914125224.

rs1491412522 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTGT,CTGTGT,CTGTGTGT,CTGTGTGTGT,CTGTGTGTGTGT,CTGTGTGTGTGTGT,CTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 18:75441062 (GRCh38)
18:73153018 (GRCh37)
Canonical SPDI:: NC_000018.10:75441062:T:TCTGT,NC_000018.10:75441062:T:TCTGTGT,NC_000018.10:75441062:T:TCTGTGTGT,NC_000018.10:75441062:T:TCTGTGTGTGT,NC_000018.10:75441062:T:TCTGTGTGTGTGT,NC_000018.10:75441062:T:TCTGTGTGTGTGTGT,NC_000018.10:75441062:T:TCTGTGTGTGTGTGTGTGT
Gene:: LOC124900405 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTGTGT=0./0 (ALFA)
HGVS:: NC_000018.10:g.75441063_75441064insCTGT, NC_000018.10:g.75441063_75441064insCTGTGT, NC_000018.10:g.75441063_75441064insCTGTGTGT, NC_000018.10:g.75441063_75441064insCTGTGTGTGT, NC_000018.10:g.75441063_75441064insCTGTGTGTGTGT, NC_000018.10:g.75441063_75441064insCTGTGTGTGTGTGT, NC_000018.10:g.75441063_75441064insCTGTGTGTGTGTGTGTGT, NC_000018.9:g.73153018_73153019insCTGT, NC_000018.9:g.73153018_73153019insCTGTGT, NC_000018.9:g.73153018_73153019insCTGTGTGT, NC_000018.9:g.73153018_73153019insCTGTGTGTGT, NC_000018.9:g.73153018_73153019insCTGTGTGTGTGT, NC_000018.9:g.73153018_73153019insCTGTGTGTGTGTGT, NC_000018.9:g.73153018_73153019insCTGTGTGTGTGTGTGTGT

Select item 14913815235.

rs1491381523 has merged into rs10643353 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGT>-,GT,GTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 18:75409675 (GRCh38)
18:73121630 (GRCh37)
Canonical SPDI:: NC_000018.10:75409659:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000018.10:75409659:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000018.10:75409659:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000018.10:75409659:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000018.10:75409659:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000018.10:75409659:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000018.10:75409659:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000018.10:75409659:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: SMIM21 (Varview), LOC105372200 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGTGT=0./0 (ALFA)
TGTGTG=0.047788/12649 (TOPMED)
-=0.277756/1391 (1000Genomes)
HGVS:: NC_000018.10:g.75409661GT[7], NC_000018.10:g.75409661GT[8], NC_000018.10:g.75409661GT[9], NC_000018.10:g.75409661GT[11], NC_000018.10:g.75409661GT[12], NC_000018.10:g.75409661GT[13], NC_000018.10:g.75409661GT[14], NC_000018.10:g.75409661GT[15], NC_000018.9:g.73121616GT[7], NC_000018.9:g.73121616GT[8], NC_000018.9:g.73121616GT[9], NC_000018.9:g.73121616GT[11], NC_000018.9:g.73121616GT[12], NC_000018.9:g.73121616GT[13], NC_000018.9:g.73121616GT[14], NC_000018.9:g.73121616GT[15], NM_001037331.3:c.*1185CA[7], NM_001037331.3:c.*1185CA[8], NM_001037331.3:c.*1185CA[9], NM_001037331.3:c.*1185CA[11], NM_001037331.3:c.*1185CA[12], NM_001037331.3:c.*1185CA[13], NM_001037331.3:c.*1185CA[14], NM_001037331.3:c.*1185CA[15]

Select item 14913352356.

rs1491335235 has merged into rs1009582935 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGA>-,GA,GAGAGA,GAGAGAGA,GAGAGAGAGA [Show Flanks]
Chromosome:: 18:75450237 (GRCh38)
18:73162192 (GRCh37)
Canonical SPDI:: NC_000018.10:75450223:AGAGAGAGAGAGAGAGA:AGAGAGAGAGAGA,NC_000018.10:75450223:AGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGA,NC_000018.10:75450223:AGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGA,NC_000018.10:75450223:AGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGA,NC_000018.10:75450223:AGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGA
Gene:: LOC124900405 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGAGAGAGAGAGA=0./0 (ALFA)
-=0.000019/5 (TOPMED)
AG=0.000035/1 (TOMMO)
AG=0.000223/1 (Estonian)
-=0.001638/3 (Korea1K)
HGVS:: NC_000018.10:g.75450225GA[6], NC_000018.10:g.75450225GA[7], NC_000018.10:g.75450225GA[9], NC_000018.10:g.75450225GA[10], NC_000018.10:g.75450225GA[11], NC_000018.9:g.73162180GA[6], NC_000018.9:g.73162180GA[7], NC_000018.9:g.73162180GA[9], NC_000018.9:g.73162180GA[10], NC_000018.9:g.73162180GA[11]

Select item 14913218817.

rs1491321881 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 18:75445524 (GRCh38)
18:73157479 (GRCh37)
Canonical SPDI:: NC_000018.10:75445523:CA:
Gene:: LOC124900405 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00042/5 (ALFA)
HGVS:: NC_000018.10:g.75445524_75445525del, NC_000018.9:g.73157479_73157480del

Select item 14912891998.

rs1491289199 has merged into rs10643353 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGT>-,GT,GTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 18:75409675 (GRCh38)
18:73121630 (GRCh37)
Canonical SPDI:: NC_000018.10:75409659:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000018.10:75409659:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000018.10:75409659:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000018.10:75409659:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000018.10:75409659:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000018.10:75409659:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000018.10:75409659:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000018.10:75409659:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: SMIM21 (Varview), LOC105372200 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGTGT=0./0 (ALFA)
TGTGTG=0.047788/12649 (TOPMED)
-=0.277756/1391 (1000Genomes)
HGVS:: NC_000018.10:g.75409661GT[7], NC_000018.10:g.75409661GT[8], NC_000018.10:g.75409661GT[9], NC_000018.10:g.75409661GT[11], NC_000018.10:g.75409661GT[12], NC_000018.10:g.75409661GT[13], NC_000018.10:g.75409661GT[14], NC_000018.10:g.75409661GT[15], NC_000018.9:g.73121616GT[7], NC_000018.9:g.73121616GT[8], NC_000018.9:g.73121616GT[9], NC_000018.9:g.73121616GT[11], NC_000018.9:g.73121616GT[12], NC_000018.9:g.73121616GT[13], NC_000018.9:g.73121616GT[14], NC_000018.9:g.73121616GT[15], NM_001037331.3:c.*1185CA[7], NM_001037331.3:c.*1185CA[8], NM_001037331.3:c.*1185CA[9], NM_001037331.3:c.*1185CA[11], NM_001037331.3:c.*1185CA[12], NM_001037331.3:c.*1185CA[13], NM_001037331.3:c.*1185CA[14], NM_001037331.3:c.*1185CA[15]

Select item 14912868619.

rs1491286861 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 18:75441062 (GRCh38)
18:73153017 (GRCh37)
Canonical SPDI:: NC_000018.10:75441061:CT:
Gene:: LOC124900405 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000018.10:g.75441062_75441063del, NC_000018.9:g.73153017_73153018del

Select item 149121359210.

rs1491213592 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 18:75453141 (GRCh38)
18:73165097 (GRCh37)
Canonical SPDI:: NC_000018.10:75453141:C:CC
Gene:: LOC124900405 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000018.10:g.75453142dup, NC_000018.9:g.73165097dup

Select item 149119490011.

rs1491194900 has merged into rs74180809 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACACACA>-,CA,CACA,CACACA,CACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA [Show Flanks]
Chromosome:: 18:75414088 (GRCh38)
18:73126043 (GRCh37)
Canonical SPDI:: NC_000018.10:75414075:CACACACACACACACACACACA:CACACACACACA,NC_000018.10:75414075:CACACACACACACACACACACA:CACACACACACACA,NC_000018.10:75414075:CACACACACACACACACACACA:CACACACACACACACA,NC_000018.10:75414075:CACACACACACACACACACACA:CACACACACACACACACA,NC_000018.10:75414075:CACACACACACACACACACACA:CACACACACACACACACACA,NC_000018.10:75414075:CACACACACACACACACACACA:CACACACACACACACACACACACA,NC_000018.10:75414075:CACACACACACACACACACACA:CACACACACACACACACACACACACA,NC_000018.10:75414075:CACACACACACACACACACACA:CACACACACACACACACACACACACACA,NC_000018.10:75414075:CACACACACACACACACACACA:CACACACACACACACACACACACACACACACACA,NC_000018.10:75414075:CACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACA
Gene:: SMIM21 (Varview), LOC105372200 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACACACACACACA=0./0 (ALFA)
-=0.1/4 (GENOME_DK)
-=0.21/126 (NorthernSweden)
-=0.29995/1156 (ALSPAC)
-=0.36601/1833 (1000Genomes)
HGVS:: NC_000018.10:g.75414076CA[6], NC_000018.10:g.75414076CA[7], NC_000018.10:g.75414076CA[8], NC_000018.10:g.75414076CA[9], NC_000018.10:g.75414076CA[10], NC_000018.10:g.75414076CA[12], NC_000018.10:g.75414076CA[13], NC_000018.10:g.75414076CA[14], NC_000018.10:g.75414076CA[17], NC_000018.10:g.75414076CA[18], NC_000018.9:g.73126031CA[6], NC_000018.9:g.73126031CA[7], NC_000018.9:g.73126031CA[8], NC_000018.9:g.73126031CA[9], NC_000018.9:g.73126031CA[10], NC_000018.9:g.73126031CA[12], NC_000018.9:g.73126031CA[13], NC_000018.9:g.73126031CA[14], NC_000018.9:g.73126031CA[17], NC_000018.9:g.73126031CA[18]

Select item 149107941512.

rs1491079415 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TACACACA,TACACATACACACA [Show Flanks]
Chromosome:: 18:75414082 (GRCh38)
18:73126038 (GRCh37)
Canonical SPDI:: NC_000018.10:75414082:ACACACA:ACACACATACACACA,NC_000018.10:75414082:ACACACA:ACACACATACACATACACACA
Gene:: SMIM21 (Varview), LOC105372200 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACATACACACA=0.00008/1 (ALFA)
HGVS:: NC_000018.10:g.75414083_75414089AC[3]ATACACACA[1], NC_000018.10:g.75414083_75414089AC[3]ATACAC[2]ACA[1], NC_000018.9:g.73126038_73126044AC[3]ATACACACA[1], NC_000018.9:g.73126038_73126044AC[3]ATACAC[2]ACA[1]

Select item 149103492513.

rs1491034925 has merged into rs3214645 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTT [Show Flanks]
Chromosome:: 18:75418706 (GRCh38)
18:73130661 (GRCh37)
Canonical SPDI:: NC_000018.10:75418698:TTTTTTTTT:TTTTTTT,NC_000018.10:75418698:TTTTTTTTT:TTTTTTTT,NC_000018.10:75418698:TTTTTTTTT:TTTTTTTTTT,NC_000018.10:75418698:TTTTTTTTT:TTTTTTTTTTT,NC_000018.10:75418698:TTTTTTTTT:TTTTTTTTTTTT
Gene:: SMIM21 (Varview), LOC105372200 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
TT=0.1967/985 (1000Genomes)
HGVS:: NC_000018.10:g.75418706_75418707del, NC_000018.10:g.75418707del, NC_000018.10:g.75418707dup, NC_000018.10:g.75418706_75418707dup, NC_000018.10:g.75418705_75418707dup, NC_000018.9:g.73130661_73130662del, NC_000018.9:g.73130662del, NC_000018.9:g.73130662dup, NC_000018.9:g.73130661_73130662dup, NC_000018.9:g.73130660_73130662dup

Select item 149098805914.

rs1490988059 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:75456235 (GRCh38)
18:73168190 (GRCh37)
Canonical SPDI:: NC_000018.10:75456234:C:T
Gene:: LOC107985177 (Varview), LOC124900405 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000224/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000018.10:g.75456235C>T, NC_000018.9:g.73168190C>T, XR_001753505.2:n.633C>T, XR_001753505.1:n.541C>T

Select item 149098788315.

rs1490987883 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:75442927 (GRCh38)
18:73154882 (GRCh37)
Canonical SPDI:: NC_000018.10:75442926:C:T
Gene:: LOC124900405 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000018.10:g.75442927C>T, NC_000018.9:g.73154882C>T

Select item 149091909716.

rs1490919097 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 18:75420438 (GRCh38)
18:73132393 (GRCh37)
Canonical SPDI:: NC_000018.10:75420437:T:G
Gene:: SMIM21 (Varview), LOC105372200 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000895/4 (ALFA)
G=0.000021/3 (GnomAD)
G=0.000893/4 (Estonian)
HGVS:: NC_000018.10:g.75420438T>G, NC_000018.9:g.73132393T>G

Select item 149084138317.

rs1490841383 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 18:75454095 (GRCh38)
18:73166050 (GRCh37)
Canonical SPDI:: NC_000018.10:75454094:A:G,NC_000018.10:75454094:A:T
Gene:: LOC107985177 (Varview), LOC124900405 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.75454095A>G, NC_000018.10:g.75454095A>T, NC_000018.9:g.73166050A>G, NC_000018.9:g.73166050A>T

Select item 149083685118.

rs1490836851 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:75421275 (GRCh38)
18:73133230 (GRCh37)
Canonical SPDI:: NC_000018.10:75421274:A:G
Gene:: SMIM21 (Varview), LOC105372200 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_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_000018.10:g.75421275A>G, NC_000018.9:g.73133230A>G

Select item 149067274019.

rs1490672740 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:75420813 (GRCh38)
18:73132768 (GRCh37)
Canonical SPDI:: NC_000018.10:75420812:T:C
Gene:: SMIM21 (Varview), LOC105372200 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.75420813T>C, NC_000018.9:g.73132768T>C

Select item 149055548620.

rs1490555486 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 18:75440595 (GRCh38)
18:73152550 (GRCh37)
Canonical SPDI:: NC_000018.10:75440594:G:C
Gene:: LOC124900405 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000018.10:g.75440595G>C, NC_000018.9:g.73152550G>C

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