SNP Links for Gene (Select 100631383) - SNP

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Select item 14915388811.

rs1491538881 [Homo sapiens]

Variant type:: DELINS
Alleles:: TC>-,TCTC [Show Flanks]
Chromosome:: 4:76298080 (GRCh38)
4:77219233 (GRCh37)
Canonical SPDI:: NC_000004.12:76298078:CTC:C,NC_000004.12:76298078:CTC:CTCTC
Gene:: FAM47E-STBD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000084/1 (ALFA)
CT=0.000071/2 (TOMMO)
-=0.000195/26 (GnomAD)
HGVS:: NC_000004.12:g.76298080_76298081del, NC_000004.12:g.76298080_76298081dup, NC_000004.11:g.77219233_77219234del, NC_000004.11:g.77219233_77219234dup

Select item 14915181382.

rs1491518138 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A,AA [Show Flanks]
Chromosome:: 4:76299472 (GRCh38)
4:77220626 (GRCh37)
Canonical SPDI:: NC_000004.12:76299472:A:AA,NC_000004.12:76299472:A:AAA
Gene:: FAM47E-STBD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAA=0./0 (ALFA)
A=0.00042/7 (TOMMO)
A=0.0174/312 (GnomAD)
HGVS:: NC_000004.12:g.76299473dup, NC_000004.12:g.76299473_76299474insAA, NC_000004.11:g.77220626dup, NC_000004.11:g.77220626_77220627insAA

Select item 14914924393.

rs1491492439 has merged into rs1553957146 [Homo sapiens]

Variant type:: DELINS
Alleles:: CC>-,C [Show Flanks]
Chromosome:: 4:76276071 (GRCh38)
4:77197224 (GRCh37)
Canonical SPDI:: NC_000004.12:76276068:CCCC:CC,NC_000004.12:76276068:CCCC:CCC
Gene:: FAM47E (Varview), FAM47E-STBD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCC=0.000253/3 (ALFA)
-=0.000051/7 (GnomAD)
HGVS:: NC_000004.12:g.76276071_76276072del, NC_000004.12:g.76276072del, NC_000004.11:g.77197224_77197225del, NC_000004.11:g.77197225del

Select item 14913597804.

rs1491359780 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 4:76299474 (GRCh38)
4:77220627 (GRCh37)
Canonical SPDI:: NC_000004.12:76299471:CACA:CA
Gene:: FAM47E-STBD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACA=0.00759/90 (ALFA)
-=0.00191/31 (TOMMO)
HGVS:: NC_000004.12:g.76299472CA[1], NC_000004.11:g.77220625CA[1]

Select item 14913442335.

rs1491344233 [Homo sapiens]

Variant type:: INS
Alleles:: ->C,T [Show Flanks]
Chromosome:: 4:76302741 (GRCh38)
4:77223895 (GRCh37)
Canonical SPDI:: NC_000004.12:76302741::C,NC_000004.12:76302741::T
Gene:: FAM47E-STBD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.00004/1 (GnomAD)
HGVS:: NC_000004.12:g.76302741_76302742insC, NC_000004.12:g.76302741_76302742insT, NC_000004.11:g.77223894_77223895insC, NC_000004.11:g.77223894_77223895insT

Select item 14910152886.

rs1491015288 has merged into rs34078861 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 4:76308284 (GRCh38)
4:77229437 (GRCh37)
Canonical SPDI:: NC_000004.12:76308272:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000004.12:76308272:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000004.12:76308272:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:76308272:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:76308272:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:76308272:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:76308272:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000004.12:76308272:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000004.12:76308272:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000004.12:76308272:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000004.12:76308272:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: STBD1 (Varview), FAM47E-STBD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.445487/2231 (1000Genomes)
HGVS:: NC_000004.12:g.76308284_76308290del, NC_000004.12:g.76308285_76308290del, NC_000004.12:g.76308286_76308290del, NC_000004.12:g.76308287_76308290del, NC_000004.12:g.76308288_76308290del, NC_000004.12:g.76308289_76308290del, NC_000004.12:g.76308290del, NC_000004.12:g.76308290dup, NC_000004.12:g.76308289_76308290dup, NC_000004.12:g.76308288_76308290dup, NC_000004.12:g.76308282_76308290dup, NC_000004.11:g.77229437_77229443del, NC_000004.11:g.77229438_77229443del, NC_000004.11:g.77229439_77229443del, NC_000004.11:g.77229440_77229443del, NC_000004.11:g.77229441_77229443del, NC_000004.11:g.77229442_77229443del, NC_000004.11:g.77229443del, NC_000004.11:g.77229443dup, NC_000004.11:g.77229442_77229443dup, NC_000004.11:g.77229441_77229443dup, NC_000004.11:g.77229435_77229443dup

Select item 14909781137.

rs1490978113 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:76300550 (GRCh38)
4:77221703 (GRCh37)
Canonical SPDI:: NC_000004.12:76300549:A:G
Gene:: FAM47E-STBD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000004.12:g.76300550A>G, NC_000004.11:g.77221703A>G

Select item 14908914888.

rs1490891488 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:76292759 (GRCh38)
4:77213912 (GRCh37)
Canonical SPDI:: NC_000004.12:76292758:A:G
Gene:: FAM47E-STBD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.76292759A>G, NC_000004.11:g.77213912A>G

Select item 14908821739.

rs1490882173 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:76261386 (GRCh38)
4:77182539 (GRCh37)
Canonical SPDI:: NC_000004.12:76261385:C:A
Gene:: FAM47E (Varview), FAM47E-STBD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000036/5 (GnomAD)
HGVS:: NC_000004.12:g.76261386C>A, NC_000004.11:g.77182539C>A

Select item 149087361610.

rs1490873616 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:76308755 (GRCh38)
4:77229908 (GRCh37)
Canonical SPDI:: NC_000004.12:76308754:T:C
Gene:: STBD1 (Varview), FAM47E-STBD1 (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_000004.12:g.76308755T>C, NC_000004.11:g.77229908T>C

Select item 149087329111.

rs1490873291 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:76263532 (GRCh38)
4:77184685 (GRCh37)
Canonical SPDI:: NC_000004.12:76263531:G:A
Gene:: FAM47E (Varview), FAM47E-STBD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.76263532G>A, NC_000004.11:g.77184685G>A

Select item 149086717212.

rs1490867172 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 4:76306803 (GRCh38)
4:77227956 (GRCh37)
Canonical SPDI:: NC_000004.12:76306802:GGGGG:GGGG
Gene:: STBD1 (Varview), FAM47E-STBD1 (Varview)
Functional Consequence:: intron_variant,frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: GGGG=0./0 (ALFA)
-=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000004.12:g.76306807del, NC_000004.11:g.77227960del, NM_003943.5:c.38del, NM_003943.4:c.38del, NP_003934.1:p.Gly13fs

Select item 149083931813.

rs1490839318 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:76300350 (GRCh38)
4:77221503 (GRCh37)
Canonical SPDI:: NC_000004.12:76300349:C:T
Gene:: FAM47E-STBD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.76300350C>T, NC_000004.11:g.77221503C>T

Select item 149081203914.

rs1490812039 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 4:76284442 (GRCh38)
4:77205595 (GRCh37)
Canonical SPDI:: NC_000004.12:76284441:T:A
Gene:: FAM47E-STBD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.76284442T>A, NC_000004.11:g.77205595T>A

Select item 149078897415.

rs1490788974 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:76284168 (GRCh38)
4:77205321 (GRCh37)
Canonical SPDI:: NC_000004.12:76284167:T:C
Gene:: FAM47E (Varview), FAM47E-STBD1 (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000021/3 (GnomAD)
HGVS:: NC_000004.12:g.76284168T>C, NC_000004.11:g.77205321T>C

Select item 149077409316.

rs1490774093 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:76281900 (GRCh38)
4:77203053 (GRCh37)
Canonical SPDI:: NC_000004.12:76281899:C:T
Gene:: FAM47E (Varview), FAM47E-STBD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000036/5 (GnomAD)
HGVS:: NC_000004.12:g.76281900C>T, NC_000004.11:g.77203053C>T

Select item 149061692817.

rs1490616928 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:76283023 (GRCh38)
4:77204176 (GRCh37)
Canonical SPDI:: NC_000004.12:76283022:A:G
Gene:: FAM47E (Varview), FAM47E-STBD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.76283023A>G, NC_000004.11:g.77204176A>G

Select item 149054102818.

rs1490541028 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:76282367 (GRCh38)
4:77203520 (GRCh37)
Canonical SPDI:: NC_000004.12:76282366:C:T
Gene:: FAM47E (Varview), FAM47E-STBD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.76282367C>T, NC_000004.11:g.77203520C>T

Select item 149049921619.

rs1490499216 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:76257548 (GRCh38)
4:77178701 (GRCh37)
Canonical SPDI:: NC_000004.12:76257547:T:C
Gene:: FAM47E (Varview), FAM47E-STBD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000019/5 (TOPMED)
HGVS:: NC_000004.12:g.76257548T>C, NC_000004.11:g.77178701T>C

Select item 149047014420.

rs1490470144 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:76274654 (GRCh38)
4:77195807 (GRCh37)
Canonical SPDI:: NC_000004.12:76274653:T:C
Gene:: FAM47E (Varview), FAM47E-STBD1 (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_000004.12:g.76274654T>C, NC_000004.11:g.77195807T>C

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