SNP Links for Gene (Select 10841) - SNP

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Select item 14915825461.

rs1491582546 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 21:46147288 (GRCh38)
21:47567203 (GRCh37)
Canonical SPDI:: NC_000021.9:46147288::A
Gene:: FTCD (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000021.9:g.46147288_46147289insA, NC_000021.8:g.47567202_47567203insA, NG_016191.1:g.13279_13280insT, NT_187626.1:g.6347_6348insA

Select item 14913166852.

rs1491316685 [Homo sapiens]

Variant type:: INS
Alleles:: ->CCC,CGC,CGCCC [Show Flanks]
Chromosome:: 21:46145734 (GRCh38)
21:47565649 (GRCh37)
Canonical SPDI:: NC_000021.9:46145734::CCC,NC_000021.9:46145734::CGC,NC_000021.9:46145734::CGCCC
Gene:: FTCD (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: CCC=0.0002/1 (GnomAD)
HGVS:: NC_000021.9:g.46145734_46145735insCCC, NC_000021.9:g.46145734_46145735insCGC, NC_000021.9:g.46145734_46145735insCGCCC, NC_000021.8:g.47565648_47565649insCCC, NC_000021.8:g.47565648_47565649insCGC, NC_000021.8:g.47565648_47565649insCGCCC, NG_016191.1:g.14833_14834insGGG, NG_016191.1:g.14833_14834insGCG, NG_016191.1:g.14833_14834insGGGCG, NT_187626.1:g.4793_4794insCCC, NT_187626.1:g.4793_4794insCGC, NT_187626.1:g.4793_4794insCGCCC

Select item 14913009903.

rs1491300990 [Homo sapiens]

Variant type:: DEL
Alleles:: TC>- [Show Flanks]
Chromosome:: 21:46135873 (GRCh38)
21:47555787 (GRCh37)
Canonical SPDI:: NC_000021.9:46135872:TC:
Gene:: FTCD (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000021.9:g.46135873_46135874del, NC_000021.8:g.47555787_47555788del, NG_016191.1:g.24694_24695del

Select item 14912487424.

rs1491248742 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 21:46147958 (GRCh38)
21:47567873 (GRCh37)
Canonical SPDI:: NC_000021.9:46147958::G
Gene:: FTCD (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000084/1 (ALFA)
G=0.000108/15 (GnomAD)
HGVS:: NC_000021.9:g.46147958_46147959insG, NC_000021.8:g.47567872_47567873insG, NG_016191.1:g.12609_12610insC, NT_187626.1:g.7017_7018insG

Select item 14912233215.

rs1491223321 [Homo sapiens]

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

Select item 14912055016.

rs1491205501 [Homo sapiens]

Variant type:: DELINS
Alleles:: TG>- [Show Flanks]
Chromosome:: 21:46145735 (GRCh38)
21:47565649 (GRCh37)
Canonical SPDI:: NC_000021.9:46145733:GTG:G
Gene:: FTCD (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
-=0.00004/1 (TOMMO)
HGVS:: NC_000021.9:g.46145735_46145736del, NC_000021.8:g.47565649_47565650del, NG_016191.1:g.14833_14834del, NT_187626.1:g.4794_4795del

Select item 14911532237.

rs1491153223 has merged into rs1367643665 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTCCCCTCCCAGC>-,CTCCCCTCCCAGCCTCCCCTCCCAGC [Show Flanks]
Chromosome:: 21:46135884 (GRCh38)
21:47555798 (GRCh37)
Canonical SPDI:: NC_000021.9:46135873:CCCTCCCAGCCTCCCCTCCCAGC:CCCTCCCAGC,NC_000021.9:46135873:CCCTCCCAGCCTCCCCTCCCAGC:CCCTCCCAGCCTCCCCTCCCAGCCTCCCCTCCCAGC
Gene:: FTCD (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCTCCCAGC=0.00008/1 (ALFA)
-=0.0001/2 (TOMMO)
-=0.00023/2 (GnomAD)
HGVS:: NC_000021.9:g.46135884_46135896del, NC_000021.9:g.46135884_46135896dup, NC_000021.8:g.47555798_47555810del, NC_000021.8:g.47555798_47555810dup, NG_016191.1:g.24682_24694del, NG_016191.1:g.24682_24694dup

Select item 14910221598.

rs1491022159 has merged into rs386394888 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 21:46157181 (GRCh38)
21:47577095 (GRCh37)
Canonical SPDI:: NC_000021.9:46157171:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000021.9:46157171:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000021.9:46157171:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000021.9:46157171:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000021.9:46157171:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000021.9:46157171:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000021.9:46157171:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000021.9:46157171:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000021.9:46157171:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000021.9:46157171:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000021.9:46157171:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000021.9:46157171:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000021.9:46157171:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000021.9:46157171:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:46157171:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:46157171:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:46157171:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:46157171:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:46157171:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:46157171:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:46157171:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:46157171:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:46157171:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:46157171:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:46157171:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:46157171:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:46157171:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:46157171:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:46157171:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: FTCD (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000021.9:g.46157181_46157195del, NC_000021.9:g.46157182_46157195del, NC_000021.9:g.46157183_46157195del, NC_000021.9:g.46157184_46157195del, NC_000021.9:g.46157185_46157195del, NC_000021.9:g.46157186_46157195del, NC_000021.9:g.46157187_46157195del, NC_000021.9:g.46157188_46157195del, NC_000021.9:g.46157189_46157195del, NC_000021.9:g.46157190_46157195del, NC_000021.9:g.46157191_46157195del, NC_000021.9:g.46157192_46157195del, NC_000021.9:g.46157193_46157195del, NC_000021.9:g.46157194_46157195del, NC_000021.9:g.46157195del, NC_000021.9:g.46157195dup, NC_000021.9:g.46157194_46157195dup, NC_000021.9:g.46157193_46157195dup, NC_000021.9:g.46157192_46157195dup, NC_000021.9:g.46157191_46157195dup, NC_000021.9:g.46157190_46157195dup, NC_000021.9:g.46157189_46157195dup, NC_000021.9:g.46157188_46157195dup, NC_000021.9:g.46157187_46157195dup, NC_000021.9:g.46157186_46157195dup, NC_000021.9:g.46157185_46157195dup, NC_000021.9:g.46157184_46157195dup, NC_000021.9:g.46157182_46157195dup, NC_000021.9:g.46157180_46157195dup, NC_000021.8:g.47577095_47577109del, NC_000021.8:g.47577096_47577109del, NC_000021.8:g.47577097_47577109del, NC_000021.8:g.47577098_47577109del, NC_000021.8:g.47577099_47577109del, NC_000021.8:g.47577100_47577109del, NC_000021.8:g.47577101_47577109del, NC_000021.8:g.47577102_47577109del, NC_000021.8:g.47577103_47577109del, NC_000021.8:g.47577104_47577109del, NC_000021.8:g.47577105_47577109del, NC_000021.8:g.47577106_47577109del, NC_000021.8:g.47577107_47577109del, NC_000021.8:g.47577108_47577109del, NC_000021.8:g.47577109del, NC_000021.8:g.47577109dup, NC_000021.8:g.47577108_47577109dup, NC_000021.8:g.47577107_47577109dup, NC_000021.8:g.47577106_47577109dup, NC_000021.8:g.47577105_47577109dup, NC_000021.8:g.47577104_47577109dup, NC_000021.8:g.47577103_47577109dup, NC_000021.8:g.47577102_47577109dup, NC_000021.8:g.47577101_47577109dup, NC_000021.8:g.47577100_47577109dup, NC_000021.8:g.47577099_47577109dup, NC_000021.8:g.47577098_47577109dup, NC_000021.8:g.47577096_47577109dup, NC_000021.8:g.47577094_47577109dup, NG_016191.1:g.3382_3396del, NG_016191.1:g.3383_3396del, NG_016191.1:g.3384_3396del, NG_016191.1:g.3385_3396del, NG_016191.1:g.3386_3396del, NG_016191.1:g.3387_3396del, NG_016191.1:g.3388_3396del, NG_016191.1:g.3389_3396del, NG_016191.1:g.3390_3396del, NG_016191.1:g.3391_3396del, NG_016191.1:g.3392_3396del, NG_016191.1:g.3393_3396del, NG_016191.1:g.3394_3396del, NG_016191.1:g.3395_3396del, NG_016191.1:g.3396del, NG_016191.1:g.3396dup, NG_016191.1:g.3395_3396dup, NG_016191.1:g.3394_3396dup, NG_016191.1:g.3393_3396dup, NG_016191.1:g.3392_3396dup, NG_016191.1:g.3391_3396dup, NG_016191.1:g.3390_3396dup, NG_016191.1:g.3389_3396dup, NG_016191.1:g.3388_3396dup, NG_016191.1:g.3387_3396dup, NG_016191.1:g.3386_3396dup, NG_016191.1:g.3385_3396dup, NG_016191.1:g.3383_3396dup, NG_016191.1:g.3381_3396dup, NT_187626.1:g.16244_16258del, NT_187626.1:g.16245_16258del, NT_187626.1:g.16246_16258del, NT_187626.1:g.16247_16258del, NT_187626.1:g.16248_16258del, NT_187626.1:g.16249_16258del, NT_187626.1:g.16250_16258del, NT_187626.1:g.16251_16258del, NT_187626.1:g.16252_16258del, NT_187626.1:g.16253_16258del, NT_187626.1:g.16254_16258del, NT_187626.1:g.16255_16258del, NT_187626.1:g.16256_16258del, NT_187626.1:g.16257_16258del, NT_187626.1:g.16258del, NT_187626.1:g.16258dup, NT_187626.1:g.16257_16258dup, NT_187626.1:g.16256_16258dup, NT_187626.1:g.16255_16258dup, NT_187626.1:g.16254_16258dup, NT_187626.1:g.16253_16258dup, NT_187626.1:g.16252_16258dup, NT_187626.1:g.16251_16258dup, NT_187626.1:g.16250_16258dup, NT_187626.1:g.16249_16258dup, NT_187626.1:g.16248_16258dup, NT_187626.1:g.16247_16258dup, NT_187626.1:g.16245_16258dup, NT_187626.1:g.16243_16258dup

Select item 14908376179.

rs1490837617 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 21:46139435 (GRCh38)
21:47559349 (GRCh37)
Canonical SPDI:: NC_000021.9:46139434:G:C
Gene:: FTCD (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.46139435G>C, NC_000021.8:g.47559349G>C, NG_016191.1:g.21133C>G

Select item 149042038410.

rs1490420384 has merged into rs368669484 [Homo sapiens]

Variant type:: DELINS
Alleles:: CATTCCCTCCCAG>-,CATTCCCTCCCAGCATTCCCTCCCAG,CATTCCCTCCCAGCATTCCCTCCCAGCATTCCCTCCCAG,CATTCCCTCCCAGCATTCCCTCCCAGCATTCCCTCCCAGCACTCCCTCCCAGCATTCCCTCCCAGCATTCCCTCCCAGCATTCCCTCCCAG [Show Flanks]
Chromosome:: 21:46135909 (GRCh38)
21:47555823 (GRCh37)
Canonical SPDI:: NC_000021.9:46135886:CCCTCCCAGCATTCCCTCCCAGCATTCCCTCCCAG:CCCTCCCAGCATTCCCTCCCAG,NC_000021.9:46135886:CCCTCCCAGCATTCCCTCCCAGCATTCCCTCCCAG:CCCTCCCAGCATTCCCTCCCAGCATTCCCTCCCAGCATTCCCTCCCAG,NC_000021.9:46135886:CCCTCCCAGCATTCCCTCCCAGCATTCCCTCCCAG:CCCTCCCAGCATTCCCTCCCAGCATTCCCTCCCAGCATTCCCTCCCAGCATTCCCTCCCAG,NC_000021.9:46135886:CCCTCCCAGCATTCCCTCCCAGCATTCCCTCCCAG:CCCTCCCAGCATTCCCTCCCAGCATTCCCTCCCAGCATTCCCTCCCAGCATTCCCTCCCAGCACTCCCTCCCAGCATTCCCTCCCAGCATTCCCTCCCAGCATTCCCTCCCAG
Gene:: FTCD (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCTCCCAGCATTCCCTCCCAGCATTCCCTCCCAGCATTCCCTCCCAG=0./0 (ALFA)
-=0.0054/3 (NorthernSweden)
-=0.16334/818 (1000Genomes)
HGVS:: NC_000021.9:g.46135896CATTCCCTCCCAG[1], NC_000021.9:g.46135896CATTCCCTCCCAG[3], NC_000021.9:g.46135896CATTCCCTCCCAG[4], NC_000021.9:g.46135887_46135921CCCTCCCAGCATT[4]CCCTCCCAGCACTCCCTCCCAGCATTCCCTCCCAGCATTCCCTCCCAGCATTCCCTCCCAG[1], NC_000021.8:g.47555810CATTCCCTCCCAG[1], NC_000021.8:g.47555810CATTCCCTCCCAG[3], NC_000021.8:g.47555810CATTCCCTCCCAG[4], NC_000021.8:g.47555801_47555835CCCTCCCAGCATT[4]CCCTCCCAGCACTCCCTCCCAGCATTCCCTCCCAGCATTCCCTCCCAGCATTCCCTCCCAG[1], NG_016191.1:g.24656AATGCTGGGAGGG[1], NG_016191.1:g.24656AATGCTGGGAGGG[3], NG_016191.1:g.24656AATGCTGGGAGGG[4], NG_016191.1:g.24647_24681CTGGGAGGGAATG[3]CTGGGAGGGAGTGCTGGGAGGGAATGCTGGGAGGGAATGCTGGGAGGGAATGCTGGGAGGGAATGCTGGGAGGG[1]

Select item 149039136911.

rs1490391369 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:46143099 (GRCh38)
21:47563013 (GRCh37)
Canonical SPDI:: NC_000021.9:46143098:T:C
Gene:: FTCD (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000021.9:g.46143099T>C, NC_000021.8:g.47563013T>C, NG_016191.1:g.17469A>G, NT_187626.1:g.2158T>C, XM_011529440.4:c.*13A>G, XM_011529440.3:c.*13A>G, XM_011529440.2:c.*13A>G, XM_011529440.1:c.*13A>G

Select item 149016714912.

rs1490167149 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 21:46153177 (GRCh38)
21:47573091 (GRCh37)
Canonical SPDI:: NC_000021.9:46153176:G:C
Gene:: FTCD (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.46153177G>C, NC_000021.8:g.47573091G>C, NG_016191.1:g.7391C>G, NT_187626.1:g.12236G>C

Select item 149011054413.

rs1490110544 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:46153859 (GRCh38)
21:47573773 (GRCh37)
Canonical SPDI:: NC_000021.9:46153858:G:A
Gene:: FTCD (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_000021.9:g.46153859G>A, NC_000021.8:g.47573773G>A, NG_016191.1:g.6709C>T, NT_187626.1:g.12918G>A

Select item 149006701114.

rs1490067011 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:46142668 (GRCh38)
21:47562582 (GRCh37)
Canonical SPDI:: NC_000021.9:46142667:C:T
Gene:: FTCD (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00004/1 (TOMMO)
HGVS:: NC_000021.9:g.46142668C>T, NC_000021.8:g.47562582C>T, NG_016191.1:g.17900G>A, NT_187626.1:g.1727C>T, XM_011529440.4:c.*444G>A, XM_011529440.3:c.*444G>A, XM_011529440.2:c.*444G>A, XM_011529440.1:c.*444G>A

Select item 148999689915.

rs1489996899 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:46136802 (GRCh38)
21:47556716 (GRCh37)
Canonical SPDI:: NC_000021.9:46136801:G:A
Gene:: FTCD (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.46136802G>A, NC_000021.8:g.47556716G>A, NG_016191.1:g.23766C>T, NM_206965.2:c.*185C>T, NM_206965.1:c.*185C>T, XM_006723962.5:c.*12C>T, XM_006723962.4:c.*12C>T, XM_006723962.3:c.*12C>T, XM_006723962.2:c.*12C>T, XM_006723962.1:c.*12C>T, XM_047440669.1:c.*12C>T

Select item 148993056216.

rs1489930562 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 21:46135762 (GRCh38)
21:47555676 (GRCh37)
Canonical SPDI:: NC_000021.9:46135761:C:A,NC_000021.9:46135761:C:T
Gene:: FTCD (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00001/1 (GnomAD)
A=0.00006/1 (TOMMO)
A=0.00071/2 (KOREAN)
HGVS:: NC_000021.9:g.46135762C>A, NC_000021.9:g.46135762C>T, NC_000021.8:g.47555676C>A, NC_000021.8:g.47555676C>T, NG_016191.1:g.24806G>T, NG_016191.1:g.24806G>A

Select item 148990444517.

rs1489904445 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTTTACAGAGTGCTGATTGGTCCA>- [Show Flanks]
Chromosome:: 21:46142778 (GRCh38)
21:47562692 (GRCh37)
Canonical SPDI:: NC_000021.9:46142763:TGCTGATTGGTCCACTTTACAGAGTGCTGATTGGTCCA:TGCTGATTGGTCCA
Gene:: FTCD (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TGCTGATTGGTCCA=0./0 (ALFA)
-=0.000019/5 (TOPMED)
HGVS:: NC_000021.9:g.46142778_46142801del, NC_000021.8:g.47562692_47562715del, NG_016191.1:g.17781_17804del, NT_187626.1:g.1837_1860del, XM_011529440.4:c.*325_*348del, XM_011529440.3:c.*325_*348del, XM_011529440.2:c.*325_*348del, XM_011529440.1:c.*325_*348del

Select item 148966311318.

rs1489663113 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:46151268 (GRCh38)
21:47571182 (GRCh37)
Canonical SPDI:: NC_000021.9:46151267:T:C
Gene:: FTCD (Varview), FTCD-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.46151268T>C, NC_000021.8:g.47571182T>C, NG_016191.1:g.9300A>G, NT_187626.1:g.10327T>C

Select item 148960709919.

rs1489607099 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:46148140 (GRCh38)
21:47568054 (GRCh37)
Canonical SPDI:: NC_000021.9:46148139:A:G
Gene:: FTCD (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.46148140A>G, NC_000021.8:g.47568054A>G, NG_016191.1:g.12428T>C, NT_187626.1:g.7199A>G

Select item 148945496820.

rs1489454968 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:46153534 (GRCh38)
21:47573448 (GRCh37)
Canonical SPDI:: NC_000021.9:46153533:T:C
Gene:: FTCD (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000021.9:g.46153534T>C, NC_000021.8:g.47573448T>C, NG_016191.1:g.7034A>G, NT_187626.1:g.12593T>C

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