SNP Links for Gene (Select 79675) - SNP

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Select item 14915892521.

rs1491589252 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:169534183 (GRCh38)
2:170390693 (GRCh37)
Canonical SPDI:: NC_000002.12:169534182:CA:
Gene:: FASTKD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00034/4 (ALFA)
-=0.00051/14 (TOMMO)
HGVS:: NC_000002.12:g.169534183_169534184del, NC_000002.11:g.170390693_170390694del

Select item 14915448412.

rs1491544841 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:169547995 (GRCh38)
2:170404505 (GRCh37)
Canonical SPDI:: NC_000002.12:169547994:CA:
Gene:: FASTKD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000002.12:g.169547995_169547996del, NC_000002.11:g.170404505_170404506del

Select item 14914510763.

rs1491451076 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 2:169534464 (GRCh38)
2:170390975 (GRCh37)
Canonical SPDI:: NC_000002.12:169534464::C
Gene:: FASTKD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00034/4 (ALFA)
C=0.00018/3 (TOMMO)
C=0.00024/22 (GnomAD)
HGVS:: NC_000002.12:g.169534464_169534465insC, NC_000002.11:g.170390974_170390975insC

Select item 14914018814.

rs1491401881 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 2:169565249 (GRCh38)
2:170421759 (GRCh37)
Canonical SPDI:: NC_000002.12:169565248:CT:
Gene:: FASTKD1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00194/23 (ALFA)
-=0.01139/720 (GnomAD)
HGVS:: NC_000002.12:g.169565249_169565250del, NC_000002.11:g.170421759_170421760del

Select item 14913672385.

rs1491367238 has merged into rs35866271 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:169538689 (GRCh38)
2:170395199 (GRCh37)
Canonical SPDI:: NC_000002.12:169538675:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:169538675:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:169538675:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:169538675:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:169538675:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:169538675:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:169538675:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:169538675:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:169538675:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:169538675:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:169538675:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:169538675:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:169538675:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:169538675:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:169538675:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:169538675:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:169538675:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: FASTKD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
AA=0.4792/2400 (1000Genomes)
HGVS:: NC_000002.12:g.169538689_169538697del, NC_000002.12:g.169538690_169538697del, NC_000002.12:g.169538691_169538697del, NC_000002.12:g.169538692_169538697del, NC_000002.12:g.169538693_169538697del, NC_000002.12:g.169538694_169538697del, NC_000002.12:g.169538695_169538697del, NC_000002.12:g.169538696_169538697del, NC_000002.12:g.169538697del, NC_000002.12:g.169538697dup, NC_000002.12:g.169538696_169538697dup, NC_000002.12:g.169538695_169538697dup, NC_000002.12:g.169538694_169538697dup, NC_000002.12:g.169538693_169538697dup, NC_000002.12:g.169538692_169538697dup, NC_000002.12:g.169538687_169538697dup, NC_000002.12:g.169538697_169538698insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.170395199_170395207del, NC_000002.11:g.170395200_170395207del, NC_000002.11:g.170395201_170395207del, NC_000002.11:g.170395202_170395207del, NC_000002.11:g.170395203_170395207del, NC_000002.11:g.170395204_170395207del, NC_000002.11:g.170395205_170395207del, NC_000002.11:g.170395206_170395207del, NC_000002.11:g.170395207del, NC_000002.11:g.170395207dup, NC_000002.11:g.170395206_170395207dup, NC_000002.11:g.170395205_170395207dup, NC_000002.11:g.170395204_170395207dup, NC_000002.11:g.170395203_170395207dup, NC_000002.11:g.170395202_170395207dup, NC_000002.11:g.170395197_170395207dup, NC_000002.11:g.170395207_170395208insAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14913537706.

rs1491353770 has merged into rs1210482307 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTT>-,T,TT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:169534471 (GRCh38)
2:170390981 (GRCh37)
Canonical SPDI:: NC_000002.12:169534463:TTTTTTTTTTTTTTTT:TTTTTTT,NC_000002.12:169534463:TTTTTTTTTTTTTTTT:TTTTTTTT,NC_000002.12:169534463:TTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000002.12:169534463:TTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:169534463:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:169534463:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:169534463:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:169534463:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:169534463:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:169534463:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:169534463:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:169534463:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:169534463:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:169534463:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:169534463:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:169534463:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: FASTKD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTT=0./0 (ALFA)
-=0.06463/38 (NorthernSweden)
HGVS:: NC_000002.12:g.169534471_169534479del, NC_000002.12:g.169534472_169534479del, NC_000002.12:g.169534473_169534479del, NC_000002.12:g.169534475_169534479del, NC_000002.12:g.169534477_169534479del, NC_000002.12:g.169534478_169534479del, NC_000002.12:g.169534479del, NC_000002.12:g.169534479dup, NC_000002.12:g.169534478_169534479dup, NC_000002.12:g.169534477_169534479dup, NC_000002.12:g.169534476_169534479dup, NC_000002.12:g.169534471_169534479dup, NC_000002.12:g.169534469_169534479dup, NC_000002.12:g.169534468_169534479dup, NC_000002.12:g.169534479_169534480insTTTTTTTTTTTTTTTTTT, NC_000002.12:g.169534479_169534480insTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.170390981_170390989del, NC_000002.11:g.170390982_170390989del, NC_000002.11:g.170390983_170390989del, NC_000002.11:g.170390985_170390989del, NC_000002.11:g.170390987_170390989del, NC_000002.11:g.170390988_170390989del, NC_000002.11:g.170390989del, NC_000002.11:g.170390989dup, NC_000002.11:g.170390988_170390989dup, NC_000002.11:g.170390987_170390989dup, NC_000002.11:g.170390986_170390989dup, NC_000002.11:g.170390981_170390989dup, NC_000002.11:g.170390979_170390989dup, NC_000002.11:g.170390978_170390989dup, NC_000002.11:g.170390989_170390990insTTTTTTTTTTTTTTTTTT, NC_000002.11:g.170390989_170390990insTTTTTTTTTTTTTTTTTTTTTT

Select item 14913345257.

rs1491334525 has merged into rs58560988 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:169548747 (GRCh38)
2:170405257 (GRCh37)
Canonical SPDI:: NC_000002.12:169548731:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:169548731:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:169548731:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:169548731:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:169548731:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:169548731:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:169548731:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:169548731:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:169548731:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:169548731:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:169548731:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:169548731:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:169548731:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:169548731:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:169548731:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:169548731:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: FASTKD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000002.12:g.169548747_169548756del, NC_000002.12:g.169548748_169548756del, NC_000002.12:g.169548750_169548756del, NC_000002.12:g.169548751_169548756del, NC_000002.12:g.169548752_169548756del, NC_000002.12:g.169548753_169548756del, NC_000002.12:g.169548754_169548756del, NC_000002.12:g.169548755_169548756del, NC_000002.12:g.169548756del, NC_000002.12:g.169548756dup, NC_000002.12:g.169548755_169548756dup, NC_000002.12:g.169548754_169548756dup, NC_000002.12:g.169548753_169548756dup, NC_000002.12:g.169548752_169548756dup, NC_000002.12:g.169548751_169548756dup, NC_000002.12:g.169548748_169548756dup, NC_000002.11:g.170405257_170405266del, NC_000002.11:g.170405258_170405266del, NC_000002.11:g.170405260_170405266del, NC_000002.11:g.170405261_170405266del, NC_000002.11:g.170405262_170405266del, NC_000002.11:g.170405263_170405266del, NC_000002.11:g.170405264_170405266del, NC_000002.11:g.170405265_170405266del, NC_000002.11:g.170405266del, NC_000002.11:g.170405266dup, NC_000002.11:g.170405265_170405266dup, NC_000002.11:g.170405264_170405266dup, NC_000002.11:g.170405263_170405266dup, NC_000002.11:g.170405262_170405266dup, NC_000002.11:g.170405261_170405266dup, NC_000002.11:g.170405258_170405266dup

Select item 14912924638.

rs1491292463 [Homo sapiens]

Variant type:: INS
Alleles:: ->AC [Show Flanks]
Chromosome:: 2:169572553 (GRCh38)
2:170429064 (GRCh37)
Canonical SPDI:: NC_000002.12:169572553::AC
Gene:: FASTKD1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: AC=0.00004/1 (TOMMO)
AC=0.03898/92 (GnomAD)
HGVS:: NC_000002.12:g.169572553_169572554insAC, NC_000002.11:g.170429063_170429064insAC

Select item 14912704849.

rs1491270484 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:169538675 (GRCh38)
2:170395185 (GRCh37)
Canonical SPDI:: NC_000002.12:169538674:CA:
Gene:: FASTKD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00548/65 (ALFA)
-=0.00056/16 (GnomAD)
-=0.00503/142 (TOMMO)
HGVS:: NC_000002.12:g.169538675_169538676del, NC_000002.11:g.170395185_170395186del

Select item 149124295510.

rs1491242955 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 2:169564952 (GRCh38)
2:170421462 (GRCh37)
Canonical SPDI:: NC_000002.12:169564950:TCT:T
Gene:: FASTKD1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.052521/623 (ALFA)
-=0.026667/16 (NorthernSweden)
-=0.053911/6929 (GnomAD)
-=0.151432/275 (Korea1K)
-=0.191118/3175 (TOMMO)
HGVS:: NC_000002.12:g.169564952_169564953del, NC_000002.11:g.170421462_170421463del

Select item 149121942211.

rs1491219422 has merged into rs3834126 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTT>-,TTTT,TTTTT,TTTTTTT [Show Flanks]
Chromosome:: 2:169572558 (GRCh38)
2:170429068 (GRCh37)
Canonical SPDI:: NC_000002.12:169572552:TTTTTTTTTTT:TTTTT,NC_000002.12:169572552:TTTTTTTTTTT:TTTTTTTTT,NC_000002.12:169572552:TTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:169572552:TTTTTTTTTTT:TTTTTTTTTTTT
Gene:: FASTKD1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
T=0.080955/312 (ALSPAC)
T=0.08657/321 (TWINSUK)
T=0.098333/59 (NorthernSweden)
T=0.11555/30585 (TOPMED)
T=0.125/5 (GENOME_DK)
HGVS:: NC_000002.12:g.169572558_169572563del, NC_000002.12:g.169572562_169572563del, NC_000002.12:g.169572563del, NC_000002.12:g.169572563dup, NC_000002.11:g.170429068_170429073del, NC_000002.11:g.170429072_170429073del, NC_000002.11:g.170429073del, NC_000002.11:g.170429073dup

Select item 149116854212.

rs1491168542 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:169548731 (GRCh38)
2:170405241 (GRCh37)
Canonical SPDI:: NC_000002.12:169548730:CA:
Gene:: FASTKD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00017/2 (ALFA)
-=0.00173/46 (TOMMO)
HGVS:: NC_000002.12:g.169548731_169548732del, NC_000002.11:g.170405241_170405242del

Select item 149111776513.

rs1491117765 has merged into rs71003097 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:169534196 (GRCh38)
2:170390706 (GRCh37)
Canonical SPDI:: NC_000002.12:169534183:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:169534183:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:169534183:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:169534183:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:169534183:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:169534183:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:169534183:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:169534183:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:169534183:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:169534183:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:169534183:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:169534183:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:169534183:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:169534183:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:169534183:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:169534183:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:169534183:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:169534183:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:169534183:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:169534183:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:169534183:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:169534183:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:169534183:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:169534183:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: FASTKD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000002.12:g.169534196_169534213del, NC_000002.12:g.169534197_169534213del, NC_000002.12:g.169534198_169534213del, NC_000002.12:g.169534199_169534213del, NC_000002.12:g.169534200_169534213del, NC_000002.12:g.169534201_169534213del, NC_000002.12:g.169534202_169534213del, NC_000002.12:g.169534203_169534213del, NC_000002.12:g.169534204_169534213del, NC_000002.12:g.169534205_169534213del, NC_000002.12:g.169534206_169534213del, NC_000002.12:g.169534207_169534213del, NC_000002.12:g.169534208_169534213del, NC_000002.12:g.169534210_169534213del, NC_000002.12:g.169534211_169534213del, NC_000002.12:g.169534212_169534213del, NC_000002.12:g.169534213del, NC_000002.12:g.169534213dup, NC_000002.12:g.169534212_169534213dup, NC_000002.12:g.169534211_169534213dup, NC_000002.12:g.169534210_169534213dup, NC_000002.12:g.169534209_169534213dup, NC_000002.12:g.169534208_169534213dup, NC_000002.12:g.169534205_169534213dup, NC_000002.11:g.170390706_170390723del, NC_000002.11:g.170390707_170390723del, NC_000002.11:g.170390708_170390723del, NC_000002.11:g.170390709_170390723del, NC_000002.11:g.170390710_170390723del, NC_000002.11:g.170390711_170390723del, NC_000002.11:g.170390712_170390723del, NC_000002.11:g.170390713_170390723del, NC_000002.11:g.170390714_170390723del, NC_000002.11:g.170390715_170390723del, NC_000002.11:g.170390716_170390723del, NC_000002.11:g.170390717_170390723del, NC_000002.11:g.170390718_170390723del, NC_000002.11:g.170390720_170390723del, NC_000002.11:g.170390721_170390723del, NC_000002.11:g.170390722_170390723del, NC_000002.11:g.170390723del, NC_000002.11:g.170390723dup, NC_000002.11:g.170390722_170390723dup, NC_000002.11:g.170390721_170390723dup, NC_000002.11:g.170390720_170390723dup, NC_000002.11:g.170390719_170390723dup, NC_000002.11:g.170390718_170390723dup, NC_000002.11:g.170390715_170390723dup

Select item 149110564014.

rs1491105640 has merged into rs374268347 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAAA [Show Flanks]
Chromosome:: 2:169569010 (GRCh38)
2:170425520 (GRCh37)
Canonical SPDI:: NC_000002.12:169568998:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:169568998:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:169568998:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:169568998:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:169568998:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:169568998:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:169568998:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:169568998:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
Gene:: FASTKD1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000002.12:g.169569010_169569015del, NC_000002.12:g.169569011_169569015del, NC_000002.12:g.169569012_169569015del, NC_000002.12:g.169569013_169569015del, NC_000002.12:g.169569014_169569015del, NC_000002.12:g.169569015del, NC_000002.12:g.169569015dup, NC_000002.12:g.169569013_169569015dup, NC_000002.11:g.170425520_170425525del, NC_000002.11:g.170425521_170425525del, NC_000002.11:g.170425522_170425525del, NC_000002.11:g.170425523_170425525del, NC_000002.11:g.170425524_170425525del, NC_000002.11:g.170425525del, NC_000002.11:g.170425525dup, NC_000002.11:g.170425523_170425525dup

Select item 149104983415.

rs1491049834 [Homo sapiens]

Variant type:: INS
Alleles:: ->GAG [Show Flanks]
Chromosome:: 2:169568655 (GRCh38)
2:170425166 (GRCh37)
Canonical SPDI:: NC_000002.12:169568655::GAG
Gene:: FASTKD1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GAG=0./0 (ALFA)
HGVS:: NC_000002.12:g.169568655_169568656insGAG, NC_000002.11:g.170425165_170425166insGAG

Select item 149092077716.

rs1490920777 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:169547060 (GRCh38)
2:170403570 (GRCh37)
Canonical SPDI:: NC_000002.12:169547059:T:A
Gene:: FASTKD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000002.12:g.169547060T>A, NC_000002.11:g.170403570T>A

Select item 149091693717.

rs1490916937 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:169556664 (GRCh38)
2:170413174 (GRCh37)
Canonical SPDI:: NC_000002.12:169556663:A:G
Gene:: FASTKD1 (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_000002.12:g.169556664A>G, NC_000002.11:g.170413174A>G

Select item 149079881718.

rs1490798817 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 2:169562113 (GRCh38)
2:170418623 (GRCh37)
Canonical SPDI:: NC_000002.12:169562112:A:C,NC_000002.12:169562112:A:G
Gene:: FASTKD1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000002.12:g.169562113A>C, NC_000002.12:g.169562113A>G, NC_000002.11:g.170418623A>C, NC_000002.11:g.170418623A>G

Select item 149076197419.

rs1490761974 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 2:169532851 (GRCh38)
2:170389361 (GRCh37)
Canonical SPDI:: NC_000002.12:169532850:A:C,NC_000002.12:169532850:A:G
Gene:: FASTKD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.169532851A>C, NC_000002.12:g.169532851A>G, NC_000002.11:g.170389361A>C, NC_000002.11:g.170389361A>G

Select item 149064939420.

rs1490649394 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 2:169531365 (GRCh38)
2:170387875 (GRCh37)
Canonical SPDI:: NC_000002.12:169531364:G:A,NC_000002.12:169531364:G:C
Gene:: FASTKD1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.169531365G>A, NC_000002.12:g.169531365G>C, NC_000002.11:g.170387875G>A, NC_000002.11:g.170387875G>C, NM_024622.6:c.2314C>T, NM_024622.6:c.2314C>G, NM_024622.5:c.2314C>T, NM_024622.5:c.2314C>G, NM_024622.4:c.2314C>T, NM_024622.4:c.2314C>G, XM_006712751.5:c.1354C>T, XM_006712751.5:c.1354C>G, XM_006712751.4:c.1354C>T, XM_006712751.4:c.1354C>G, XM_006712751.3:c.1354C>T, XM_006712751.3:c.1354C>G, XM_006712751.2:c.1354C>T, XM_006712751.2:c.1354C>G, XM_006712751.1:c.1354C>T, XM_006712751.1:c.1354C>G, XM_006712750.5:c.2245C>T, XM_006712750.5:c.2245C>G, XM_006712750.4:c.2245C>T, XM_006712750.4:c.2245C>G, XM_006712750.3:c.2245C>T, XM_006712750.3:c.2245C>G, XM_006712750.2:c.2245C>T, XM_006712750.2:c.2245C>G, XM_006712750.1:c.2245C>T, XM_006712750.1:c.2245C>G, XM_017004912.3:c.1225C>T, XM_017004912.3:c.1225C>G, XM_017004912.2:c.1225C>T, XM_017004912.2:c.1225C>G, XM_017004912.1:c.1225C>T, XM_017004912.1:c.1225C>G, NM_001281476.3:c.2185C>T, NM_001281476.3:c.2185C>G, NM_001281476.2:c.2185C>T, NM_001281476.2:c.2185C>G, NM_001281476.1:c.2185C>T, NM_001281476.1:c.2185C>G, NR_104020.3:n.2520C>T, NR_104020.3:n.2520C>G, NR_104020.2:n.2576C>T, NR_104020.2:n.2576C>G, NR_104020.1:n.2576C>T, NR_104020.1:n.2576C>G, XM_017004911.3:c.1798C>T, XM_017004911.3:c.1798C>G, XM_017004911.2:c.1798C>T, XM_017004911.2:c.1798C>G, XM_017004911.1:c.1798C>T, XM_017004911.1:c.1798C>G, NM_001322046.2:c.2314C>T, NM_001322046.2:c.2314C>G, NM_001322046.1:c.2314C>T, NM_001322046.1:c.2314C>G, NM_001322048.2:c.2245C>T, NM_001322048.2:c.2245C>G, NM_001322048.1:c.2245C>T, NM_001322048.1:c.2245C>G, NM_001322049.2:c.2116C>T, NM_001322049.2:c.2116C>G, NM_001322049.1:c.2116C>T, NM_001322049.1:c.2116C>G, XM_047445830.1:c.2245C>T, XM_047445830.1:c.2245C>G, XM_047445831.1:c.2185C>T, XM_047445831.1:c.2185C>G, XM_047445832.1:c.2116C>T, XM_047445832.1:c.2116C>G, NP_078898.3:p.Pro772Ser, NP_078898.3:p.Pro772Ala, XP_006712814.1:p.Pro452Ser, XP_006712814.1:p.Pro452Ala, XP_006712813.1:p.Pro749Ser, XP_006712813.1:p.Pro749Ala, XP_016860401.1:p.Pro409Ser, XP_016860401.1:p.Pro409Ala, NP_001268405.1:p.Pro729Ser, NP_001268405.1:p.Pro729Ala, XP_016860400.1:p.Pro600Ser, XP_016860400.1:p.Pro600Ala, NP_001308975.1:p.Pro772Ser, NP_001308975.1:p.Pro772Ala, NP_001308977.1:p.Pro749Ser, NP_001308977.1:p.Pro749Ala, NP_001308978.1:p.Pro706Ser, NP_001308978.1:p.Pro706Ala, XP_047301786.1:p.Pro749Ser, XP_047301786.1:p.Pro749Ala, XP_047301787.1:p.Pro729Ser, XP_047301787.1:p.Pro729Ala, XP_047301788.1:p.Pro706Ser, XP_047301788.1:p.Pro706Ala

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