SNP Links for Gene (Select 26080) - SNP

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Select item 14915751731.

rs1491575173 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 13:18213866 (GRCh38)
13:3 (GRCh37)
Canonical SPDI:: NC_000013.11:18213861:TATATA:TATA
Gene:: FAM230C (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TATA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.18213862TA[2], NW_011332699.1:g.212522TA[2], NT_113923.1:g.42614TA[2]

Select item 14915680102.

rs1491568010 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TATAT,TATATATTATATATCATATAATATATTATAT,TATATATTATATATCATATATTATAT,TATATATTATATATCATATTATAT [Show Flanks]
Chromosome:: 13:18214124 (GRCh38)
13:-1 (GRCh37)
Canonical SPDI:: NC_000013.11:18214124:TATAT:TATATTATAT,NC_000013.11:18214124:TATAT:TATATTATATATTATATATCATATAATATATTATAT,NC_000013.11:18214124:TATAT:TATATTATATATTATATATCATATATTATAT,NC_000013.11:18214124:TATAT:TATATTATATATTATATATCATATTATAT
Gene:: FAM230C (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATTATAT=0.03313/393 (ALFA)
TATAT=0.00924/166 (TOMMO)
TATAT=0.12264/13 (Korea1K)
HGVS:: NC_000013.11:g.18214125_18214129dup, NC_000013.11:g.18214125_18214129TATATTA[2]TA[2]TCATATAATATATTATAT[1], NC_000013.11:g.18214125_18214129TATATTA[2]TA[2]TCATATATTATAT[1], NC_000013.11:g.18214125_18214129TATATTA[2]TA[2]TCATATTATAT[1], NW_011332699.1:g.212785_212789dup, NW_011332699.1:g.212785_212789TATATTA[2]TA[2]TCATATAATATATTATAT[1], NW_011332699.1:g.212785_212789TATATTA[2]TA[2]TCATATATTATAT[1], NW_011332699.1:g.212785_212789TATATTA[2]TA[2]TCATATTATAT[1], NT_113923.1:g.42877_42881dup, NT_113923.1:g.42877_42881TATATTA[2]TA[2]TCATATAATATATTATAT[1], NT_113923.1:g.42877_42881TATATTA[2]TA[2]TCATATATTATAT[1], NT_113923.1:g.42877_42881TATATTA[2]TA[2]TCATATTATAT[1]

Select item 14915427093.

rs1491542709 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 13:18214131 (GRCh38)
13:-1 (GRCh37)
Canonical SPDI:: NC_000013.11:18214130:TT:
Gene:: FAM230C (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000013.11:g.18214131_18214132del, NW_011332699.1:g.212791_212792del, NT_113923.1:g.42883_42884del

Select item 14915187384.

rs1491518738 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 13:18204049 (GRCh38)
13:-1 (GRCh37)
Canonical SPDI:: NC_000013.11:18204049::T
Gene:: FAM230C (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000337/4 (ALFA)
T=0.000459/64 (GnomAD)
T=0.000937/6 (1000Genomes)
HGVS:: NC_000013.11:g.18204049_18204050insT, NW_011332699.1:g.202709_202710insT, NT_113923.1:g.32801_32802insT

Select item 14915118835.

rs1491511883 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TAA [Show Flanks]
Chromosome:: 13:18204045 (GRCh38)
13:-1 (GRCh37)
Canonical SPDI:: NC_000013.11:18204045:ATAA:ATAATAA
Gene:: FAM230C (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATAATAA=0.27078/3212 (ALFA)
ATA=0.4672/13202 (TOMMO)
HGVS:: NC_000013.11:g.18204047_18204049dup, NW_011332699.1:g.202707_202709dup, NT_113923.1:g.32799_32801dup

Select item 14914920196.

rs1491492019 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 13:18197724 (GRCh38)
13:-1 (GRCh37)
Canonical SPDI:: NC_000013.11:18197723:CT:
Gene:: FAM230C (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CT=0.250801/2975 (ALFA)
CT=0.166747/20741 (GnomAD)
CT=0.190247/5376 (TOMMO)
HGVS:: NC_000013.11:g.18197724_18197725del, NW_011332699.1:g.196384_196385del, NT_113923.1:g.26476_26477del

Select item 14914919607.

rs1491491960 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTATT [Show Flanks]
Chromosome:: 13:18214145 (GRCh38)
13:-1 (GRCh37)
Canonical SPDI:: NC_000013.11:18214145:T:TCTATT
Gene:: FAM230C (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TCTATT=0./0 (ALFA)
HGVS:: NC_000013.11:g.18214146_18214147insCTATT, NW_011332699.1:g.212806_212807insCTATT, NT_113923.1:g.42898_42899insCTATT

Select item 14914646498.

rs1491464649 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 13:18214746 (GRCh38)
13:-1 (GRCh37)
Canonical SPDI:: NC_000013.11:18214745:AA:
Gene:: FAM230C (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000019/2 (GnomAD)
HGVS:: NC_000013.11:g.18214746_18214747del, NW_011332699.1:g.213406_213407del, NT_113923.1:g.43498_43499del

Select item 14914632759.

rs1491463275 has merged into rs1338384635 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATAT>-,AT,ATATAT [Show Flanks]
Chromosome:: 13:18214149 (GRCh38)
13:3 (GRCh37)
Canonical SPDI:: NC_000013.11:18214144:ATATATAT:ATAT,NC_000013.11:18214144:ATATATAT:ATATAT,NC_000013.11:18214144:ATATATAT:ATATATATAT
Gene:: FAM230C (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ATATAT=0./0 (ALFA)
HGVS:: NC_000013.11:g.18214145AT[2], NC_000013.11:g.18214145AT[3], NC_000013.11:g.18214145AT[5], NW_011332699.1:g.212805AT[2], NW_011332699.1:g.212805AT[3], NW_011332699.1:g.212805AT[5], NT_113923.1:g.42897AT[2], NT_113923.1:g.42897AT[3], NT_113923.1:g.42897AT[5]

Select item 149135544010.

rs1491355440 has merged into rs386832919 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA [Show Flanks]
Chromosome:: 13:18203745 (GRCh38)
13:-1 (GRCh37)
Canonical SPDI:: NC_000013.11:18203744:AAAAAAAAA:AAAAAAAA,NC_000013.11:18203744:AAAAAAAAA:AAAAAAAAAA
Gene:: FAM230C (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
-=0.002367/325 (GnomAD)
HGVS:: NC_000013.11:g.18203753del, NC_000013.11:g.18203753dup, NW_011332699.1:g.202413del, NW_011332699.1:g.202413dup, NT_113923.1:g.32505del, NT_113923.1:g.32505dup

Select item 149134760911.

rs1491347609 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 13:18196535 (GRCh38)
13:1 (GRCh37)
Canonical SPDI:: NC_000013.11:18196532:ATAT:AT
Gene:: FAM230C (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATAT=0.000084/1 (ALFA)
-=0.00015/17 (GnomAD)
-=0.000156/1 (1000Genomes)
HGVS:: NC_000013.11:g.18196533AT[1], NW_011332699.1:g.195193AT[1], NT_113923.1:g.25285AT[1]

Select item 149134280912.

rs1491342809 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATATA [Show Flanks]
Chromosome:: 13:18214131 (GRCh38)
13:-1 (GRCh37)
Canonical SPDI:: NC_000013.11:18214131:TATA:TATAATATA
Gene:: FAM230C (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TATAATATA=0.0027/32 (ALFA)
TATAA=0.00014/8 (GnomAD)
HGVS:: NC_000013.11:g.18214132_18214135TA[2]AT[2]A[1], NW_011332699.1:g.212792_212795TA[2]AT[2]A[1], NT_113923.1:g.42884_42887TA[2]AT[2]A[1]

Select item 149133967213.

rs1491339672 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 13:18214144 (GRCh38)
13:-1 (GRCh37)
Canonical SPDI:: NC_000013.11:18214143:AA:
Gene:: FAM230C (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000013.11:g.18214144_18214145del, NW_011332699.1:g.212804_212805del, NT_113923.1:g.42896_42897del

Select item 149133827314.

rs1491338273 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 13:18204047 (GRCh38)
13:1 (GRCh37)
Canonical SPDI:: NC_000013.11:18204044:TATA:TA
Gene:: FAM230C (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TATA=0./0 (ALFA)
HGVS:: NC_000013.11:g.18204045TA[1], NW_011332699.1:g.202705TA[1], NT_113923.1:g.32797TA[1]

Select item 149130862315.

rs1491308623 has merged into rs1169295870 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATAT>-,AT,ATATAT [Show Flanks]
Chromosome:: 13:18214753 (GRCh38)
13:5 (GRCh37)
Canonical SPDI:: NC_000013.11:18214746:ATATATATAT:ATATAT,NC_000013.11:18214746:ATATATATAT:ATATATAT,NC_000013.11:18214746:ATATATATAT:ATATATATATAT
Gene:: FAM230C (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATAT=0./0 (ALFA)
-=0.00053/15 (TOMMO)
HGVS:: NC_000013.11:g.18214747AT[3], NC_000013.11:g.18214747AT[4], NC_000013.11:g.18214747AT[6], NW_011332699.1:g.213407AT[3], NW_011332699.1:g.213407AT[4], NW_011332699.1:g.213407AT[6], NT_113923.1:g.43499AT[3], NT_113923.1:g.43499AT[4], NT_113923.1:g.43499AT[6]

Select item 149130199916.

rs1491301999 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T,TT,TTT,TTTT,TTTTT [Show Flanks]
Chromosome:: 13:18196533 (GRCh38)
13:-1 (GRCh37)
Canonical SPDI:: NC_000013.11:18196533:T:TT,NC_000013.11:18196533:T:TTT,NC_000013.11:18196533:T:TTTT,NC_000013.11:18196533:T:TTTTT,NC_000013.11:18196533:T:TTTTTT
Gene:: FAM230C (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTT=0./0 (ALFA)
HGVS:: NC_000013.11:g.18196534dup, NC_000013.11:g.18196534_18196535insTT, NC_000013.11:g.18196534_18196535insTTT, NC_000013.11:g.18196534_18196535insTTTT, NC_000013.11:g.18196534_18196535insTTTTT, NW_011332699.1:g.195194dup, NW_011332699.1:g.195194_195195insTT, NW_011332699.1:g.195194_195195insTTT, NW_011332699.1:g.195194_195195insTTTT, NW_011332699.1:g.195194_195195insTTTTT, NT_113923.1:g.25286dup, NT_113923.1:g.25286_25287insTT, NT_113923.1:g.25286_25287insTTT, NT_113923.1:g.25286_25287insTTTT, NT_113923.1:g.25286_25287insTTTTT

Select item 149129315317.

rs1491293153 has merged into rs1219178628 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCATATA>-,TCATATATCATATA [Show Flanks]
Chromosome:: 13:18213909 (GRCh38)
13:11 (GRCh37)
Canonical SPDI:: NC_000013.11:18213896:ATATATCATATATCATATA:ATATATCATATA,NC_000013.11:18213896:ATATATCATATATCATATA:ATATATCATATATCATATATCATATA
Gene:: FAM230C (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATCATATATCATATATCATATA=0./0 (ALFA)
-=0.000057/6 (GnomAD)
-=0.000156/1 (1000Genomes)
-=0.000634/1 (Korea1K)
HGVS:: NC_000013.11:g.18213902TCATATA[1], NC_000013.11:g.18213902TCATATA[3], NW_011332699.1:g.212562TCATATA[1], NW_011332699.1:g.212562TCATATA[3], NT_113923.1:g.42654TCATATA[1], NT_113923.1:g.42654TCATATA[3]

Select item 149129314318.

rs1491293143 [Homo sapiens]

Variant type:: INS
Alleles:: ->TC [Show Flanks]
Chromosome:: 13:18214144 (GRCh38)
13:-1 (GRCh37)
Canonical SPDI:: NC_000013.11:18214144::TC
Gene:: FAM230C (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TC=0./0 (ALFA)
HGVS:: NC_000013.11:g.18214144_18214145insTC, NW_011332699.1:g.212804_212805insTC, NT_113923.1:g.42896_42897insTC

Select item 149128452519.

rs1491284525 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCATATA>-,TCATATATCATATA [Show Flanks]
Chromosome:: 13:18214138 (GRCh38)
13:4 (GRCh37)
Canonical SPDI:: NC_000013.11:18214132:ATATATCATATA:ATATA,NC_000013.11:18214132:ATATATCATATA:ATATATCATATATCATATA
Gene:: FAM230C (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ATATATCATATATCATATA=0./0 (ALFA)
HGVS:: NC_000013.11:g.18214138_18214144del, NC_000013.11:g.18214138_18214144dup, NW_011332699.1:g.212798_212804del, NW_011332699.1:g.212798_212804dup, NT_113923.1:g.42890_42896del, NT_113923.1:g.42890_42896dup

Select item 149128139320.

rs1491281393 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 13:18204052 (GRCh38)
13:2 (GRCh37)
Canonical SPDI:: NC_000013.11:18204048:ACACA:ACA
Gene:: FAM230C (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ACA=0./0 (ALFA)
HGVS:: NC_000013.11:g.18204050CA[1], NW_011332699.1:g.202710CA[1], NT_113923.1:g.32802CA[1]