SNP Links for Gene (Select 391059) - SNP

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Select item 14914666961.

rs1491466696 has merged into rs57397996 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACACACACACACACACACACACACACA>-,CA,CACA,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACACACACA [Show Flanks]
Chromosome:: 1:99720854 (GRCh38)
1:100186410 (GRCh37)
Canonical SPDI:: NC_000001.11:99720834:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACA,NC_000001.11:99720834:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACA,NC_000001.11:99720834:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000001.11:99720834:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000001.11:99720834:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000001.11:99720834:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000001.11:99720834:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA,NC_000001.11:99720834:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA,NC_000001.11:99720834:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA,NC_000001.11:99720834:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACA,NC_000001.11:99720834:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACA,NC_000001.11:99720834:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACA,NC_000001.11:99720834:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACA,NC_000001.11:99720834:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACA,NC_000001.11:99720834:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACA,NC_000001.11:99720834:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000001.11:99720834:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000001.11:99720834:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000001.11:99720834:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000001.11:99720834:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000001.11:99720834:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000001.11:99720834:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000001.11:99720834:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000001.11:99720834:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA
Gene:: FRRS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACACACACACA=0./0 (ALFA)
ACACACACACACAC=0.000015/4 (TOPMED)
-=0.222366/857 (ALSPAC)
ACACAC=0.325/13 (GENOME_DK)
-=0.395966/1983 (1000Genomes)
HGVS:: NC_000001.11:g.99720836CA[9], NC_000001.11:g.99720836CA[10], NC_000001.11:g.99720836CA[11], NC_000001.11:g.99720836CA[12], NC_000001.11:g.99720836CA[13], NC_000001.11:g.99720836CA[14], NC_000001.11:g.99720836CA[15], NC_000001.11:g.99720836CA[16], NC_000001.11:g.99720836CA[17], NC_000001.11:g.99720836CA[18], NC_000001.11:g.99720836CA[19], NC_000001.11:g.99720836CA[20], NC_000001.11:g.99720836CA[21], NC_000001.11:g.99720836CA[22], NC_000001.11:g.99720836CA[23], NC_000001.11:g.99720836CA[25], NC_000001.11:g.99720836CA[26], NC_000001.11:g.99720836CA[27], NC_000001.11:g.99720836CA[28], NC_000001.11:g.99720836CA[29], NC_000001.11:g.99720836CA[30], NC_000001.11:g.99720836CA[31], NC_000001.11:g.99720836CA[34], NC_000001.11:g.99720836CA[36], NC_000001.10:g.100186392CA[9], NC_000001.10:g.100186392CA[10], NC_000001.10:g.100186392CA[11], NC_000001.10:g.100186392CA[12], NC_000001.10:g.100186392CA[13], NC_000001.10:g.100186392CA[14], NC_000001.10:g.100186392CA[15], NC_000001.10:g.100186392CA[16], NC_000001.10:g.100186392CA[17], NC_000001.10:g.100186392CA[18], NC_000001.10:g.100186392CA[19], NC_000001.10:g.100186392CA[20], NC_000001.10:g.100186392CA[21], NC_000001.10:g.100186392CA[22], NC_000001.10:g.100186392CA[23], NC_000001.10:g.100186392CA[25], NC_000001.10:g.100186392CA[26], NC_000001.10:g.100186392CA[27], NC_000001.10:g.100186392CA[28], NC_000001.10:g.100186392CA[29], NC_000001.10:g.100186392CA[30], NC_000001.10:g.100186392CA[31], NC_000001.10:g.100186392CA[34], NC_000001.10:g.100186392CA[36]

Select item 14914356212.

rs1491435621 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 1:99753219 (GRCh38)
1:100218776 (GRCh37)
Canonical SPDI:: NC_000001.11:99753219::T
Gene:: FRRS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.99753219_99753220insT, NC_000001.10:g.100218775_100218776insT

Select item 14914305953.

rs1491430595 has merged into rs766253857 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAA>-,A,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:99753231 (GRCh38)
1:100218787 (GRCh37)
Canonical SPDI:: NC_000001.11:99753218:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:99753218:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:99753218:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:99753218:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:99753218:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:99753218:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:99753218:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: FRRS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.275/11 (GENOME_DK)
HGVS:: NC_000001.11:g.99753231_99753238del, NC_000001.11:g.99753232_99753238del, NC_000001.11:g.99753237_99753238del, NC_000001.11:g.99753238del, NC_000001.11:g.99753238dup, NC_000001.11:g.99753237_99753238dup, NC_000001.11:g.99753233_99753238dup, NC_000001.10:g.100218787_100218794del, NC_000001.10:g.100218788_100218794del, NC_000001.10:g.100218793_100218794del, NC_000001.10:g.100218794del, NC_000001.10:g.100218794dup, NC_000001.10:g.100218793_100218794dup, NC_000001.10:g.100218789_100218794dup

Select item 14912381264.

rs1491238126 [Homo sapiens]

Variant type:: DEL
Alleles:: GG>- [Show Flanks]
Chromosome:: 1:99757949 (GRCh38)
1:100223505 (GRCh37)
Canonical SPDI:: NC_000001.11:99757948:GG:
Gene:: FRRS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.2767/1026 (TWINSUK)
-=0.27893/1075 (ALSPAC)
HGVS:: NC_000001.11:g.99757949_99757950del, NC_000001.10:g.100223505_100223506del

Select item 14911894235.

rs1491189423 has merged into rs72040433 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA [Show Flanks]
Chromosome:: 1:99757962 (GRCh38)
1:100223518 (GRCh37)
Canonical SPDI:: NC_000001.11:99757950:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:99757950:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:99757950:AAAAAAAAAAAAA:AAAAAAAAAAAAAA
Gene:: FRRS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.169728/850 (1000Genomes)
-=0.258389/68393 (TOPMED)
-=0.3/12 (GENOME_DK)
-=0.369048/217 (NorthernSweden)
HGVS:: NC_000001.11:g.99757962_99757963del, NC_000001.11:g.99757963del, NC_000001.11:g.99757963dup, NC_000001.10:g.100223518_100223519del, NC_000001.10:g.100223519del, NC_000001.10:g.100223519dup

Select item 14911860486.

rs1491186048 has merged into rs71744107 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAATAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:99763882 (GRCh38)
1:100229438 (GRCh37)
Canonical SPDI:: NC_000001.11:99763868:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:99763868:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:99763868:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:99763868:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:99763868:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:99763868:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:99763868:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:99763868:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:99763868:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAA
Gene:: FRRS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
A=0.25/2 (KOREAN)
-=0.3025/1515 (1000Genomes)
HGVS:: NC_000001.11:g.99763882_99763884del, NC_000001.11:g.99763883_99763884del, NC_000001.11:g.99763884del, NC_000001.11:g.99763884dup, NC_000001.11:g.99763883_99763884dup, NC_000001.11:g.99763882_99763884dup, NC_000001.11:g.99763878_99763884dup, NC_000001.11:g.99763877_99763884dup, NC_000001.11:g.99763869_99763884A[21]TAAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.10:g.100229438_100229440del, NC_000001.10:g.100229439_100229440del, NC_000001.10:g.100229440del, NC_000001.10:g.100229440dup, NC_000001.10:g.100229439_100229440dup, NC_000001.10:g.100229438_100229440dup, NC_000001.10:g.100229434_100229440dup, NC_000001.10:g.100229433_100229440dup, NC_000001.10:g.100229425_100229440A[21]TAAAAAAAAAAAAAAAAAAAAAA[1]

Select item 14911092057.

rs1491109205 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 1:99720834 (GRCh38)
1:100186390 (GRCh37)
Canonical SPDI:: NC_000001.11:99720833:AA:
Gene:: FRRS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000001.11:g.99720834_99720835del, NC_000001.10:g.100186390_100186391del

Select item 14910634338.

rs1491063433 has merged into rs71854810 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA [Show Flanks]
Chromosome:: 1:99719423 (GRCh38)
1:100184979 (GRCh37)
Canonical SPDI:: NC_000001.11:99719407:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:99719407:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:99719407:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:99719407:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:99719407:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:99719407:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:99719407:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:99719407:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:99719407:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:99719407:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: FRRS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.3219/1612 (1000Genomes)
HGVS:: NC_000001.11:g.99719423_99719427del, NC_000001.11:g.99719424_99719427del, NC_000001.11:g.99719425_99719427del, NC_000001.11:g.99719426_99719427del, NC_000001.11:g.99719427del, NC_000001.11:g.99719427dup, NC_000001.11:g.99719426_99719427dup, NC_000001.11:g.99719425_99719427dup, NC_000001.11:g.99719424_99719427dup, NC_000001.11:g.99719423_99719427dup, NC_000001.10:g.100184979_100184983del, NC_000001.10:g.100184980_100184983del, NC_000001.10:g.100184981_100184983del, NC_000001.10:g.100184982_100184983del, NC_000001.10:g.100184983del, NC_000001.10:g.100184983dup, NC_000001.10:g.100184982_100184983dup, NC_000001.10:g.100184981_100184983dup, NC_000001.10:g.100184980_100184983dup, NC_000001.10:g.100184979_100184983dup

Select item 14909832629.

rs1490983262 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:99746408 (GRCh38)
1:100211964 (GRCh37)
Canonical SPDI:: NC_000001.11:99746407:T:G
Gene:: FRRS1 (Varview)
Functional Consequence:: intron_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.99746408T>G, NC_000001.10:g.100211964T>G

Select item 149092809410.

rs1490928094 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:99763499 (GRCh38)
1:100229055 (GRCh37)
Canonical SPDI:: NC_000001.11:99763498:C:T
Gene:: FRRS1 (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_000001.11:g.99763499C>T, NC_000001.10:g.100229055C>T

Select item 149083040111.

rs1490830401 [Homo sapiens]

Variant type:: DEL
Alleles:: GG>- [Show Flanks]
Chromosome:: 1:99713118 (GRCh38)
1:100178674 (GRCh37)
Canonical SPDI:: NC_000001.11:99713117:GG:
Gene:: FRRS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000029/4 (GnomAD)
-=0.000038/10 (TOPMED)
HGVS:: NC_000001.11:g.99713118_99713119del, NC_000001.10:g.100178674_100178675del

Select item 149079154812.

rs1490791548 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:99729521 (GRCh38)
1:100195077 (GRCh37)
Canonical SPDI:: NC_000001.11:99729520:C:A
Gene:: FRRS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.99729521C>A, NC_000001.10:g.100195077C>A

Select item 149069648313.

rs1490696483 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:99714210 (GRCh38)
1:100179766 (GRCh37)
Canonical SPDI:: NC_000001.11:99714209:G:A
Gene:: FRRS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.99714210G>A, NC_000001.10:g.100179766G>A

Select item 149066674914.

rs1490666749 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:99713675 (GRCh38)
1:100179231 (GRCh37)
Canonical SPDI:: NC_000001.11:99713674:G:A
Gene:: FRRS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.99713675G>A, NC_000001.10:g.100179231G>A

Select item 149054234215.

rs1490542342 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:99731659 (GRCh38)
1:100197215 (GRCh37)
Canonical SPDI:: NC_000001.11:99731658:T:C
Gene:: FRRS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.99731659T>C, NC_000001.10:g.100197215T>C

Select item 149047817316.

rs1490478173 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:99721897 (GRCh38)
1:100187453 (GRCh37)
Canonical SPDI:: NC_000001.11:99721896:G:A
Gene:: FRRS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000038/10 (TOPMED)
A=0.000057/8 (GnomAD)
HGVS:: NC_000001.11:g.99721897G>A, NC_000001.10:g.100187453G>A

Select item 149045039617.

rs1490450396 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:99738609 (GRCh38)
1:100204165 (GRCh37)
Canonical SPDI:: NC_000001.11:99738608:G:A
Gene:: FRRS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.99738609G>A, NC_000001.10:g.100204165G>A

Select item 149038014018.

rs1490380140 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:99717802 (GRCh38)
1:100183358 (GRCh37)
Canonical SPDI:: NC_000001.11:99717801:A:C
Gene:: FRRS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000023/6 (TOPMED)
HGVS:: NC_000001.11:g.99717802A>C, NC_000001.10:g.100183358A>C

Select item 149036642419.

rs1490366424 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:99752871 (GRCh38)
1:100218427 (GRCh37)
Canonical SPDI:: NC_000001.11:99752870:G:A
Gene:: FRRS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000066/1 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000001.11:g.99752871G>A, NC_000001.10:g.100218427G>A

Select item 149036583520.

rs1490365835 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:99755159 (GRCh38)
1:100220715 (GRCh37)
Canonical SPDI:: NC_000001.11:99755158:C:A
Gene:: FRRS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.99755159C>A, NC_000001.10:g.100220715C>A

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