SNP Links for Gene (Select 206358) - SNP

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Select item 14915812281.

rs1491581228 [Homo sapiens]

Variant type:: INS
Alleles:: ->G,GAT [Show Flanks]
Chromosome:: 5:151537316 (GRCh38)
5:150916878 (GRCh37)
Canonical SPDI:: NC_000005.10:151537316::G,NC_000005.10:151537316::GAT
Gene:: FAT2 (Varview), SLC36A1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAT=0./0 (ALFA)
G=0.00563/77 (TOMMO)
G=0.01408/22 (Korea1K)
G=0.03833/22 (NorthernSweden)
G=0.10655/6537 (GnomAD)
HGVS:: NC_000005.10:g.151537316_151537317insG, NC_000005.10:g.151537316_151537317insGAT, NC_000005.9:g.150916877_150916878insG, NC_000005.9:g.150916877_150916878insGAT, NG_046979.1:g.119824_119825insC, NG_046979.1:g.119824_119825insATC

Select item 14915543772.

rs1491554377 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GT,GTGT,GTGTGT [Show Flanks]
Chromosome:: 5:151458311 (GRCh38)
5:150837873 (GRCh37)
Canonical SPDI:: NC_000005.10:151458311:GT:GTGT,NC_000005.10:151458311:GT:GTGTGT,NC_000005.10:151458311:GT:GTGTGTGT
Gene:: SLC36A1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGT=0./0 (ALFA)
HGVS:: NC_000005.10:g.151458312_151458313dup, NC_000005.10:g.151458312GT[3], NC_000005.10:g.151458312GT[4], NC_000005.9:g.150837873_150837874dup, NC_000005.9:g.150837873GT[3], NC_000005.9:g.150837873GT[4], XM_011537595.3:c.-388_-387dup, XM_011537595.3:c.-388GT[3], XM_011537595.3:c.-388GT[4], XM_011537596.3:c.-388_-387dup, XM_011537596.3:c.-388GT[3], XM_011537596.3:c.-388GT[4], XM_047416927.1:c.-388_-387dup, XM_047416927.1:c.-388GT[3], XM_047416927.1:c.-388GT[4], XM_047416920.1:c.-388_-387dup, XM_047416920.1:c.-388GT[3], XM_047416920.1:c.-388GT[4], XM_047416925.1:c.-388_-387dup, XM_047416925.1:c.-388GT[3], XM_047416925.1:c.-388GT[4], XM_047416929.1:c.-388_-387dup, XM_047416929.1:c.-388GT[3], XM_047416929.1:c.-388GT[4]

Select item 14915062293.

rs1491506229 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 5:151533393 (GRCh38)
5:150912954 (GRCh37)
Canonical SPDI:: NC_000005.10:151533392:AA:
Gene:: FAT2 (Varview), SLC36A1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00006/1 (ALFA)
HGVS:: NC_000005.10:g.151533393_151533394del, NC_000005.9:g.150912954_150912955del, NG_046979.1:g.123747_123748del

Select item 14914955374.

rs1491495537 has merged into rs770748144 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTTT [Show Flanks]
Chromosome:: 5:151468295 (GRCh38)
5:150847856 (GRCh37)
Canonical SPDI:: NC_000005.10:151468293:TTTT:T,NC_000005.10:151468293:TTTT:TT,NC_000005.10:151468293:TTTT:TTT,NC_000005.10:151468293:TTTT:TTTTTT
Gene:: SLC36A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000005.10:g.151468295_151468297del, NC_000005.10:g.151468296_151468297del, NC_000005.10:g.151468297del, NC_000005.10:g.151468296_151468297dup, NC_000005.9:g.150847856_150847858del, NC_000005.9:g.150847857_150847858del, NC_000005.9:g.150847858del, NC_000005.9:g.150847857_150847858dup

Select item 14914915915.

rs1491491591 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TA,TATA,TATATA,TATATATA,TATATATATA,TATATATATATA,TATATATATATATA,TATATATATATATATA,TATATATATATATATATA,TATATATATATATATATATA,TATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATA [Show Flanks]
Chromosome:: 5:151534968 (GRCh38)
5:150914530 (GRCh37)
Canonical SPDI:: NC_000005.10:151534968:A:ATA,NC_000005.10:151534968:A:ATATA,NC_000005.10:151534968:A:ATATATA,NC_000005.10:151534968:A:ATATATATA,NC_000005.10:151534968:A:ATATATATATA,NC_000005.10:151534968:A:ATATATATATATA,NC_000005.10:151534968:A:ATATATATATATATA,NC_000005.10:151534968:A:ATATATATATATATATA,NC_000005.10:151534968:A:ATATATATATATATATATA,NC_000005.10:151534968:A:ATATATATATATATATATATA,NC_000005.10:151534968:A:ATATATATATATATATATATATATATATATATA,NC_000005.10:151534968:A:ATATATATATATATATATATATATATATATATATA,NC_000005.10:151534968:A:ATATATATATATATATATATATATATATATATATATA
Gene:: FAT2 (Varview), SLC36A1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATA=0./0 (ALFA)
HGVS:: NC_000005.10:g.151534969_151534970insTA, NC_000005.10:g.151534969_151534970insTATA, NC_000005.10:g.151534970TA[3], NC_000005.10:g.151534970TA[4], NC_000005.10:g.151534970TA[5], NC_000005.10:g.151534970TA[6], NC_000005.10:g.151534970TA[7], NC_000005.10:g.151534970TA[8], NC_000005.10:g.151534970TA[9], NC_000005.10:g.151534970TA[10], NC_000005.10:g.151534970TA[16], NC_000005.10:g.151534970TA[17], NC_000005.10:g.151534970TA[18], NC_000005.9:g.150914530_150914531insTA, NC_000005.9:g.150914530_150914531insTATA, NC_000005.9:g.150914531TA[3], NC_000005.9:g.150914531TA[4], NC_000005.9:g.150914531TA[5], NC_000005.9:g.150914531TA[6], NC_000005.9:g.150914531TA[7], NC_000005.9:g.150914531TA[8], NC_000005.9:g.150914531TA[9], NC_000005.9:g.150914531TA[10], NC_000005.9:g.150914531TA[16], NC_000005.9:g.150914531TA[17], NC_000005.9:g.150914531TA[18], NG_046979.1:g.122172_122173insAT, NG_046979.1:g.122172_122173insATAT, NG_046979.1:g.122173AT[3], NG_046979.1:g.122173AT[4], NG_046979.1:g.122173AT[5], NG_046979.1:g.122173AT[6], NG_046979.1:g.122173AT[7], NG_046979.1:g.122173AT[8], NG_046979.1:g.122173AT[9], NG_046979.1:g.122173AT[10], NG_046979.1:g.122173AT[16], NG_046979.1:g.122173AT[17], NG_046979.1:g.122173AT[18]

Select item 14914487116.

rs1491448711 has merged into rs1156305401 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 5:151474168 (GRCh38)
5:150853729 (GRCh37)
Canonical SPDI:: NC_000005.10:151474159:AAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000005.10:151474159:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000005.10:151474159:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:151474159:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:151474159:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:151474159:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:151474159:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:151474159:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:151474159:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:151474159:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:151474159:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:151474159:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000005.10:151474159:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:151474159:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:151474159:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:151474159:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:151474159:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:151474159:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:151474159:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:151474159:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:151474159:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:151474159:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:151474159:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:151474159:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:151474159:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:151474159:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:151474159:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:151474159:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:151474159:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:151474159:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:151474159:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:151474159:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:151474159:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:151474159:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:151474159:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:151474159:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:151474159:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:151474159:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:151474159:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:151474159:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:151474159:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SLC36A1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
HGVS:: NC_000005.10:g.151474168_151474179del, NC_000005.10:g.151474170_151474179del, NC_000005.10:g.151474171_151474179del, NC_000005.10:g.151474172_151474179del, NC_000005.10:g.151474173_151474179del, NC_000005.10:g.151474174_151474179del, NC_000005.10:g.151474175_151474179del, NC_000005.10:g.151474176_151474179del, NC_000005.10:g.151474177_151474179del, NC_000005.10:g.151474178_151474179del, NC_000005.10:g.151474179del, NC_000005.10:g.151474179dup, NC_000005.10:g.151474178_151474179dup, NC_000005.10:g.151474177_151474179dup, NC_000005.10:g.151474176_151474179dup, NC_000005.10:g.151474175_151474179dup, NC_000005.10:g.151474174_151474179dup, NC_000005.10:g.151474173_151474179dup, NC_000005.10:g.151474172_151474179dup, NC_000005.10:g.151474171_151474179dup, NC_000005.10:g.151474170_151474179dup, NC_000005.10:g.151474169_151474179dup, NC_000005.10:g.151474168_151474179dup, NC_000005.10:g.151474167_151474179dup, NC_000005.10:g.151474166_151474179dup, NC_000005.10:g.151474165_151474179dup, NC_000005.10:g.151474164_151474179dup, NC_000005.10:g.151474163_151474179dup, NC_000005.10:g.151474162_151474179dup, NC_000005.10:g.151474161_151474179dup, NC_000005.10:g.151474160_151474179dup, NC_000005.10:g.151474179_151474180insAAAAAAAAAAAAAAAAAAAAA, NC_000005.10:g.151474179_151474180insAAAAAAAAAAAAAAAAAAAAAA, NC_000005.10:g.151474179_151474180insAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.10:g.151474179_151474180insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.10:g.151474179_151474180insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.10:g.151474179_151474180insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.10:g.151474179_151474180insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.10:g.151474179_151474180insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.10:g.151474179_151474180insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.10:g.151474179_151474180insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.150853729_150853740del, NC_000005.9:g.150853731_150853740del, NC_000005.9:g.150853732_150853740del, NC_000005.9:g.150853733_150853740del, NC_000005.9:g.150853734_150853740del, NC_000005.9:g.150853735_150853740del, NC_000005.9:g.150853736_150853740del, NC_000005.9:g.150853737_150853740del, NC_000005.9:g.150853738_150853740del, NC_000005.9:g.150853739_150853740del, NC_000005.9:g.150853740del, NC_000005.9:g.150853740dup, NC_000005.9:g.150853739_150853740dup, NC_000005.9:g.150853738_150853740dup, NC_000005.9:g.150853737_150853740dup, NC_000005.9:g.150853736_150853740dup, NC_000005.9:g.150853735_150853740dup, NC_000005.9:g.150853734_150853740dup, NC_000005.9:g.150853733_150853740dup, NC_000005.9:g.150853732_150853740dup, NC_000005.9:g.150853731_150853740dup, NC_000005.9:g.150853730_150853740dup, NC_000005.9:g.150853729_150853740dup, NC_000005.9:g.150853728_150853740dup, NC_000005.9:g.150853727_150853740dup, NC_000005.9:g.150853726_150853740dup, NC_000005.9:g.150853725_150853740dup, NC_000005.9:g.150853724_150853740dup, NC_000005.9:g.150853723_150853740dup, NC_000005.9:g.150853722_150853740dup, NC_000005.9:g.150853721_150853740dup, NC_000005.9:g.150853740_150853741insAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.150853740_150853741insAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.150853740_150853741insAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.150853740_150853741insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.150853740_150853741insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.150853740_150853741insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.150853740_150853741insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.150853740_150853741insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.150853740_150853741insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.150853740_150853741insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14914327117.

rs1491432711 has merged into rs36215342 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACACACACACACACACACACACACAC>-,AC,ACAC,ACACAC,ACACACAC,ACACACACAC,ACACACACACAC,ACACACACACACAC,ACACACACACACACAC,ACACACACACACACACAC,ACACACACACACACACACAC,ACACACACACACACACACACAC,ACACACACACACACACACACACAC,ACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACAC [Show Flanks]
Chromosome:: 5:151533412 (GRCh38)
5:150912973 (GRCh37)
Canonical SPDI:: NC_000005.10:151533393:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACAC,NC_000005.10:151533393:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACAC,NC_000005.10:151533393:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACAC,NC_000005.10:151533393:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACAC,NC_000005.10:151533393:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACAC,NC_000005.10:151533393:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACAC,NC_000005.10:151533393:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACAC,NC_000005.10:151533393:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACAC,NC_000005.10:151533393:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACAC,NC_000005.10:151533393:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACAC,NC_000005.10:151533393:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACAC,NC_000005.10:151533393:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACAC,NC_000005.10:151533393:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACAC,NC_000005.10:151533393:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACAC,NC_000005.10:151533393:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000005.10:151533393:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000005.10:151533393:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000005.10:151533393:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000005.10:151533393:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000005.10:151533393:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000005.10:151533393:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC
Gene:: FAT2 (Varview), SLC36A1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACACACAC=0./0 (ALFA)
-=0.2942/1134 (ALSPAC)
-=0.3204/1188 (TWINSUK)
HGVS:: NC_000005.10:g.151533394AC[9], NC_000005.10:g.151533394AC[10], NC_000005.10:g.151533394AC[11], NC_000005.10:g.151533394AC[12], NC_000005.10:g.151533394AC[13], NC_000005.10:g.151533394AC[14], NC_000005.10:g.151533394AC[15], NC_000005.10:g.151533394AC[16], NC_000005.10:g.151533394AC[17], NC_000005.10:g.151533394AC[18], NC_000005.10:g.151533394AC[19], NC_000005.10:g.151533394AC[20], NC_000005.10:g.151533394AC[21], NC_000005.10:g.151533394AC[23], NC_000005.10:g.151533394AC[24], NC_000005.10:g.151533394AC[25], NC_000005.10:g.151533394AC[26], NC_000005.10:g.151533394AC[27], NC_000005.10:g.151533394AC[28], NC_000005.10:g.151533394AC[29], NC_000005.10:g.151533394AC[30], NC_000005.9:g.150912955AC[9], NC_000005.9:g.150912955AC[10], NC_000005.9:g.150912955AC[11], NC_000005.9:g.150912955AC[12], NC_000005.9:g.150912955AC[13], NC_000005.9:g.150912955AC[14], NC_000005.9:g.150912955AC[15], NC_000005.9:g.150912955AC[16], NC_000005.9:g.150912955AC[17], NC_000005.9:g.150912955AC[18], NC_000005.9:g.150912955AC[19], NC_000005.9:g.150912955AC[20], NC_000005.9:g.150912955AC[21], NC_000005.9:g.150912955AC[23], NC_000005.9:g.150912955AC[24], NC_000005.9:g.150912955AC[25], NC_000005.9:g.150912955AC[26], NC_000005.9:g.150912955AC[27], NC_000005.9:g.150912955AC[28], NC_000005.9:g.150912955AC[29], NC_000005.9:g.150912955AC[30], NG_046979.1:g.123704GT[9], NG_046979.1:g.123704GT[10], NG_046979.1:g.123704GT[11], NG_046979.1:g.123704GT[12], NG_046979.1:g.123704GT[13], NG_046979.1:g.123704GT[14], NG_046979.1:g.123704GT[15], NG_046979.1:g.123704GT[16], NG_046979.1:g.123704GT[17], NG_046979.1:g.123704GT[18], NG_046979.1:g.123704GT[19], NG_046979.1:g.123704GT[20], NG_046979.1:g.123704GT[21], NG_046979.1:g.123704GT[23], NG_046979.1:g.123704GT[24], NG_046979.1:g.123704GT[25], NG_046979.1:g.123704GT[26], NG_046979.1:g.123704GT[27], NG_046979.1:g.123704GT[28], NG_046979.1:g.123704GT[29], NG_046979.1:g.123704GT[30]

Select item 14914276848.

rs1491427684 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>-,ATAT [Show Flanks]
Chromosome:: 5:151468347 (GRCh38)
5:150847908 (GRCh37)
Canonical SPDI:: NC_000005.10:151468339:TATATATAT:TATATAT,NC_000005.10:151468339:TATATATAT:TATATATATAT
Gene:: SLC36A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TATATATATAT=0./0 (ALFA)
-=0.00002/2 (GnomAD)
HGVS:: NC_000005.10:g.151468341AT[3], NC_000005.10:g.151468341AT[5], NC_000005.9:g.150847902AT[3], NC_000005.9:g.150847902AT[5]

Select item 14914145479.

rs1491414547 has merged into rs34814099 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTT>-,TT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 5:151454725 (GRCh38)
5:150834286 (GRCh37)
Canonical SPDI:: NC_000005.10:151454710:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:151454710:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:151454710:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000005.10:151454710:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000005.10:151454710:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000005.10:151454710:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:151454710:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:151454710:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:151454710:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:151454710:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:151454710:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:151454710:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:151454710:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:151454710:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:151454710:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: SLC36A1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000005.10:g.151454725_151454730del, NC_000005.10:g.151454727_151454730del, NC_000005.10:g.151454729_151454730del, NC_000005.10:g.151454730del, NC_000005.10:g.151454730dup, NC_000005.10:g.151454729_151454730dup, NC_000005.10:g.151454728_151454730dup, NC_000005.10:g.151454727_151454730dup, NC_000005.10:g.151454726_151454730dup, NC_000005.10:g.151454725_151454730dup, NC_000005.10:g.151454724_151454730dup, NC_000005.10:g.151454723_151454730dup, NC_000005.10:g.151454722_151454730dup, NC_000005.10:g.151454721_151454730dup, NC_000005.10:g.151454720_151454730dup, NC_000005.9:g.150834286_150834291del, NC_000005.9:g.150834288_150834291del, NC_000005.9:g.150834290_150834291del, NC_000005.9:g.150834291del, NC_000005.9:g.150834291dup, NC_000005.9:g.150834290_150834291dup, NC_000005.9:g.150834289_150834291dup, NC_000005.9:g.150834288_150834291dup, NC_000005.9:g.150834287_150834291dup, NC_000005.9:g.150834286_150834291dup, NC_000005.9:g.150834285_150834291dup, NC_000005.9:g.150834284_150834291dup, NC_000005.9:g.150834283_150834291dup, NC_000005.9:g.150834282_150834291dup, NC_000005.9:g.150834281_150834291dup, XM_011537595.3:c.-3975_-3970del, XM_011537595.3:c.-3973_-3970del, XM_011537595.3:c.-3971_-3970del, XM_011537595.3:c.-3970del, XM_011537595.3:c.-3970dup, XM_011537595.3:c.-3971_-3970dup, XM_011537595.3:c.-3972_-3970dup, XM_011537595.3:c.-3973_-3970dup, XM_011537595.3:c.-3974_-3970dup, XM_011537595.3:c.-3975_-3970dup, XM_011537595.3:c.-3976_-3970dup, XM_011537595.3:c.-3977_-3970dup, XM_011537595.3:c.-3978_-3970dup, XM_011537595.3:c.-3979_-3970dup, XM_011537595.3:c.-3980_-3970dup, XM_011537596.3:c.-3975_-3970del, XM_011537596.3:c.-3973_-3970del, XM_011537596.3:c.-3971_-3970del, XM_011537596.3:c.-3970del, XM_011537596.3:c.-3970dup, XM_011537596.3:c.-3971_-3970dup, XM_011537596.3:c.-3972_-3970dup, XM_011537596.3:c.-3973_-3970dup, XM_011537596.3:c.-3974_-3970dup, XM_011537596.3:c.-3975_-3970dup, XM_011537596.3:c.-3976_-3970dup, XM_011537596.3:c.-3977_-3970dup, XM_011537596.3:c.-3978_-3970dup, XM_011537596.3:c.-3979_-3970dup, XM_011537596.3:c.-3980_-3970dup, XM_047416927.1:c.-3975_-3970del, XM_047416927.1:c.-3973_-3970del, XM_047416927.1:c.-3971_-3970del, XM_047416927.1:c.-3970del, XM_047416927.1:c.-3970dup, XM_047416927.1:c.-3971_-3970dup, XM_047416927.1:c.-3972_-3970dup, XM_047416927.1:c.-3973_-3970dup, XM_047416927.1:c.-3974_-3970dup, XM_047416927.1:c.-3975_-3970dup, XM_047416927.1:c.-3976_-3970dup, XM_047416927.1:c.-3977_-3970dup, XM_047416927.1:c.-3978_-3970dup, XM_047416927.1:c.-3979_-3970dup, XM_047416927.1:c.-3980_-3970dup, XM_047416920.1:c.-3975_-3970del, XM_047416920.1:c.-3973_-3970del, XM_047416920.1:c.-3971_-3970del, XM_047416920.1:c.-3970del, XM_047416920.1:c.-3970dup, XM_047416920.1:c.-3971_-3970dup, XM_047416920.1:c.-3972_-3970dup, XM_047416920.1:c.-3973_-3970dup, XM_047416920.1:c.-3974_-3970dup, XM_047416920.1:c.-3975_-3970dup, XM_047416920.1:c.-3976_-3970dup, XM_047416920.1:c.-3977_-3970dup, XM_047416920.1:c.-3978_-3970dup, XM_047416920.1:c.-3979_-3970dup, XM_047416920.1:c.-3980_-3970dup, XM_047416925.1:c.-3975_-3970del, XM_047416925.1:c.-3973_-3970del, XM_047416925.1:c.-3971_-3970del, XM_047416925.1:c.-3970del, XM_047416925.1:c.-3970dup, XM_047416925.1:c.-3971_-3970dup, XM_047416925.1:c.-3972_-3970dup, XM_047416925.1:c.-3973_-3970dup, XM_047416925.1:c.-3974_-3970dup, XM_047416925.1:c.-3975_-3970dup, XM_047416925.1:c.-3976_-3970dup, XM_047416925.1:c.-3977_-3970dup, XM_047416925.1:c.-3978_-3970dup, XM_047416925.1:c.-3979_-3970dup, XM_047416925.1:c.-3980_-3970dup, XM_047416929.1:c.-3975_-3970del, XM_047416929.1:c.-3973_-3970del, XM_047416929.1:c.-3971_-3970del, XM_047416929.1:c.-3970del, XM_047416929.1:c.-3970dup, XM_047416929.1:c.-3971_-3970dup, XM_047416929.1:c.-3972_-3970dup, XM_047416929.1:c.-3973_-3970dup, XM_047416929.1:c.-3974_-3970dup, XM_047416929.1:c.-3975_-3970dup, XM_047416929.1:c.-3976_-3970dup, XM_047416929.1:c.-3977_-3970dup, XM_047416929.1:c.-3978_-3970dup, XM_047416929.1:c.-3979_-3970dup, XM_047416929.1:c.-3980_-3970dup

Select item 149137125810.

rs1491371258 has merged into rs1364543679 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,AAAA [Show Flanks]
Chromosome:: 5:151534970 (GRCh38)
5:150914531 (GRCh37)
Canonical SPDI:: NC_000005.10:151534967:AAAA:AA,NC_000005.10:151534967:AAAA:AAAAAA
Gene:: FAT2 (Varview), SLC36A1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAA=0.00394/64 (ALFA)
-=0.00375/24 (1000Genomes)
-=0.00628/311 (GnomAD)
HGVS:: NC_000005.10:g.151534970_151534971del, NC_000005.10:g.151534970_151534971dup, NC_000005.9:g.150914531_150914532del, NC_000005.9:g.150914531_150914532dup, NG_046979.1:g.122172_122173del, NG_046979.1:g.122172_122173dup

Select item 149136072611.

rs1491360726 [Homo sapiens]

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

Select item 149133711812.

rs1491337118 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 5:151454711 (GRCh38)
5:150834273 (GRCh37)
Canonical SPDI:: NC_000005.10:151454711::G
Gene:: SLC36A1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: G=0.00005/1 (GnomAD)
HGVS:: NC_000005.10:g.151454711_151454712insG, NC_000005.9:g.150834272_150834273insG, XM_011537595.3:c.-3989_-3988insG, XM_011537596.3:c.-3989_-3988insG, XM_047416927.1:c.-3989_-3988insG, XM_047416920.1:c.-3989_-3988insG, XM_047416925.1:c.-3989_-3988insG, XM_047416929.1:c.-3989_-3988insG

Select item 149127825513.

rs1491278255 has merged into rs113166440 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTT,TTTTTT [Show Flanks]
Chromosome:: 5:151497951 (GRCh38)
5:150877512 (GRCh37)
Canonical SPDI:: NC_000005.10:151497939:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000005.10:151497939:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000005.10:151497939:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:151497939:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:151497939:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:151497939:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT
Gene:: SLC36A1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0.00006/1 (ALFA)
HGVS:: NC_000005.10:g.151497951_151497952del, NC_000005.10:g.151497952del, NC_000005.10:g.151497952dup, NC_000005.10:g.151497951_151497952dup, NC_000005.10:g.151497950_151497952dup, NC_000005.10:g.151497949_151497952dup, NC_000005.9:g.150877512_150877513del, NC_000005.9:g.150877513del, NC_000005.9:g.150877513dup, NC_000005.9:g.150877512_150877513dup, NC_000005.9:g.150877511_150877513dup, NC_000005.9:g.150877510_150877513dup

Select item 149123438214.

rs1491234382 has merged into rs143433547 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>-,TATA,TATATA [Show Flanks]
Chromosome:: 5:151458261 (GRCh38)
5:150837822 (GRCh37)
Canonical SPDI:: NC_000005.10:151458249:ATATATATATATA:ATATATATATA,NC_000005.10:151458249:ATATATATATATA:ATATATATATATATA,NC_000005.10:151458249:ATATATATATATA:ATATATATATATATATA
Gene:: SLC36A1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATATATATA=0./0 (ALFA)
AT=0.06659/122 (Korea1K)
AT=0.08921/1495 (TOMMO)
AT=0.13998/701 (1000Genomes)
AT=0.28833/173 (NorthernSweden)
AT=0.425/17 (GENOME_DK)
HGVS:: NC_000005.10:g.151458251TA[5], NC_000005.10:g.151458251TA[7], NC_000005.10:g.151458251TA[8], NC_000005.9:g.150837812TA[5], NC_000005.9:g.150837812TA[7], NC_000005.9:g.150837812TA[8], XM_011537595.3:c.-449TA[5], XM_011537595.3:c.-449TA[7], XM_011537595.3:c.-449TA[8], XM_011537596.3:c.-449TA[5], XM_011537596.3:c.-449TA[7], XM_011537596.3:c.-449TA[8], XM_047416927.1:c.-449TA[5], XM_047416927.1:c.-449TA[7], XM_047416927.1:c.-449TA[8], XM_047416920.1:c.-449TA[5], XM_047416920.1:c.-449TA[7], XM_047416920.1:c.-449TA[8], XM_047416925.1:c.-449TA[5], XM_047416925.1:c.-449TA[7], XM_047416925.1:c.-449TA[8], XM_047416929.1:c.-449TA[5], XM_047416929.1:c.-449TA[7], XM_047416929.1:c.-449TA[8]

Select item 149122858415.

rs1491228584 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTAT,GTGTAT,GTGTGTAT,TTAT [Show Flanks]
Chromosome:: 5:151458312 (GRCh38)
5:150837874 (GRCh37)
Canonical SPDI:: NC_000005.10:151458312:T:TGTAT,NC_000005.10:151458312:T:TGTGTAT,NC_000005.10:151458312:T:TGTGTGTAT,NC_000005.10:151458312:T:TTTAT
Gene:: SLC36A1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTAT=0./0 (ALFA)
TGTGTA=0.20832/2578 (TOMMO)
HGVS:: NC_000005.10:g.151458313_151458314insGTAT, NC_000005.10:g.151458313TG[2]TAT[1], NC_000005.10:g.151458313TG[3]TAT[1], NC_000005.10:g.151458313_151458314insTTAT, NC_000005.9:g.150837874_150837875insGTAT, NC_000005.9:g.150837874TG[2]TAT[1], NC_000005.9:g.150837874TG[3]TAT[1], NC_000005.9:g.150837874_150837875insTTAT, XM_011537595.3:c.-387_-386insGTAT, XM_011537595.3:c.-387TG[2]TAT[1], XM_011537595.3:c.-387TG[3]TAT[1], XM_011537595.3:c.-387_-386insTTAT, XM_011537596.3:c.-387_-386insGTAT, XM_011537596.3:c.-387TG[2]TAT[1], XM_011537596.3:c.-387TG[3]TAT[1], XM_011537596.3:c.-387_-386insTTAT, XM_047416927.1:c.-387_-386insGTAT, XM_047416927.1:c.-387TG[2]TAT[1], XM_047416927.1:c.-387TG[3]TAT[1], XM_047416927.1:c.-387_-386insTTAT, XM_047416920.1:c.-387_-386insGTAT, XM_047416920.1:c.-387TG[2]TAT[1], XM_047416920.1:c.-387TG[3]TAT[1], XM_047416920.1:c.-387_-386insTTAT, XM_047416925.1:c.-387_-386insGTAT, XM_047416925.1:c.-387TG[2]TAT[1], XM_047416925.1:c.-387TG[3]TAT[1], XM_047416925.1:c.-387_-386insTTAT, XM_047416929.1:c.-387_-386insGTAT, XM_047416929.1:c.-387TG[2]TAT[1], XM_047416929.1:c.-387TG[3]TAT[1], XM_047416929.1:c.-387_-386insTTAT

Select item 149122233416.

rs1491222334 has merged into rs1214176868 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 5:151468260 (GRCh38)
5:150847821 (GRCh37)
Canonical SPDI:: NC_000005.10:151468251:AAAAAAAAAAAAAAAA:AAAAAAAA,NC_000005.10:151468251:AAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000005.10:151468251:AAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000005.10:151468251:AAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:151468251:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:151468251:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:151468251:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:151468251:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:151468251:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:151468251:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:151468251:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:151468251:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000005.10:151468251:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000005.10:151468251:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:151468251:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:151468251:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:151468251:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:151468251:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:151468251:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:151468251:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:151468251:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:151468251:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:151468251:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:151468251:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:151468251:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:151468251:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:151468251:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:151468251:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:151468251:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:151468251:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SLC36A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
AA=0.02036/9 (NorthernSweden)
HGVS:: NC_000005.10:g.151468260_151468267del, NC_000005.10:g.151468261_151468267del, NC_000005.10:g.151468262_151468267del, NC_000005.10:g.151468263_151468267del, NC_000005.10:g.151468264_151468267del, NC_000005.10:g.151468265_151468267del, NC_000005.10:g.151468266_151468267del, NC_000005.10:g.151468267del, NC_000005.10:g.151468267dup, NC_000005.10:g.151468266_151468267dup, NC_000005.10:g.151468265_151468267dup, NC_000005.10:g.151468264_151468267dup, NC_000005.10:g.151468263_151468267dup, NC_000005.10:g.151468262_151468267dup, NC_000005.10:g.151468261_151468267dup, NC_000005.10:g.151468260_151468267dup, NC_000005.10:g.151468259_151468267dup, NC_000005.10:g.151468258_151468267dup, NC_000005.10:g.151468257_151468267dup, NC_000005.10:g.151468256_151468267dup, NC_000005.10:g.151468255_151468267dup, NC_000005.10:g.151468254_151468267dup, NC_000005.10:g.151468253_151468267dup, NC_000005.10:g.151468267_151468268insAAAAAAAAAAAAAAAAA, NC_000005.10:g.151468267_151468268insAAAAAAAAAAAAAAAAAA, NC_000005.10:g.151468267_151468268insAAAAAAAAAAAAAAAAAAA, NC_000005.10:g.151468267_151468268insAAAAAAAAAAAAAAAAAAAA, NC_000005.10:g.151468267_151468268insAAAAAAAAAAAAAAAAAAAAA, NC_000005.10:g.151468267_151468268insAAAAAAAAAAAAAAAAAAAAAA, NC_000005.10:g.151468267_151468268insAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.150847821_150847828del, NC_000005.9:g.150847822_150847828del, NC_000005.9:g.150847823_150847828del, NC_000005.9:g.150847824_150847828del, NC_000005.9:g.150847825_150847828del, NC_000005.9:g.150847826_150847828del, NC_000005.9:g.150847827_150847828del, NC_000005.9:g.150847828del, NC_000005.9:g.150847828dup, NC_000005.9:g.150847827_150847828dup, NC_000005.9:g.150847826_150847828dup, NC_000005.9:g.150847825_150847828dup, NC_000005.9:g.150847824_150847828dup, NC_000005.9:g.150847823_150847828dup, NC_000005.9:g.150847822_150847828dup, NC_000005.9:g.150847821_150847828dup, NC_000005.9:g.150847820_150847828dup, NC_000005.9:g.150847819_150847828dup, NC_000005.9:g.150847818_150847828dup, NC_000005.9:g.150847817_150847828dup, NC_000005.9:g.150847816_150847828dup, NC_000005.9:g.150847815_150847828dup, NC_000005.9:g.150847814_150847828dup, NC_000005.9:g.150847828_150847829insAAAAAAAAAAAAAAAAA, NC_000005.9:g.150847828_150847829insAAAAAAAAAAAAAAAAAA, NC_000005.9:g.150847828_150847829insAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.150847828_150847829insAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.150847828_150847829insAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.150847828_150847829insAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.150847828_150847829insAAAAAAAAAAAAAAAAAAAAAAA

Select item 149121989017.

rs1491219890 [Homo sapiens]

Variant type:: INS
Alleles:: ->TT [Show Flanks]
Chromosome:: 5:151467305 (GRCh38)
5:150846867 (GRCh37)
Canonical SPDI:: NC_000005.10:151467305::TT
Gene:: SLC36A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: TT=0.00001/1 (GnomAD)
HGVS:: NC_000005.10:g.151467305_151467306insTT, NC_000005.9:g.150846866_150846867insTT

Select item 149117534118.

rs1491175341 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>- [Show Flanks]
Chromosome:: 5:151458341 (GRCh38)
5:150837902 (GRCh37)
Canonical SPDI:: NC_000005.10:151458339:TTT:T
Gene:: SLC36A1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.00241/38 (TOMMO)
-=0.035/21 (NorthernSweden)
-=0.04227/76 (Korea1K)
-=0.07236/7191 (GnomAD)
HGVS:: NC_000005.10:g.151458341_151458342del, NC_000005.9:g.150837902_150837903del, XM_011537595.3:c.-359_-358del, XM_011537596.3:c.-359_-358del, XM_047416927.1:c.-359_-358del, XM_047416920.1:c.-359_-358del, XM_047416925.1:c.-359_-358del, XM_047416929.1:c.-359_-358del

Select item 149114208519.

rs1491142085 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 5:151458312 (GRCh38)
5:150837873 (GRCh37)
Canonical SPDI:: NC_000005.10:151458311:GT:
Gene:: SLC36A1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00002/1 (GnomAD)
HGVS:: NC_000005.10:g.151458312_151458313del, NC_000005.9:g.150837873_150837874del, XM_011537595.3:c.-388_-387del, XM_011537596.3:c.-388_-387del, XM_047416927.1:c.-388_-387del, XM_047416920.1:c.-388_-387del, XM_047416925.1:c.-388_-387del, XM_047416929.1:c.-388_-387del

Select item 149111284820.

rs1491112848 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 5:151474159 (GRCh38)
5:150853720 (GRCh37)
Canonical SPDI:: NC_000005.10:151474158:CA:
Gene:: SLC36A1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000005.10:g.151474159_151474160del, NC_000005.9:g.150853720_150853721del

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