SNP Links for Gene (Select 55020) - SNP

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Select item 14915887311.

rs1491588731 has merged into rs130643 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 22:46277615 (GRCh38)
22:46673512 (GRCh37)
Canonical SPDI:: NC_000022.11:46277605:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000022.11:46277605:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000022.11:46277605:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000022.11:46277605:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000022.11:46277605:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000022.11:46277605:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000022.11:46277605:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000022.11:46277605:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000022.11:46277605:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000022.11:46277605:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000022.11:46277605:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000022.11:46277605:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000022.11:46277605:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000022.11:46277605:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:46277605:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:46277605:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:46277605:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:46277605:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: TTC38 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000022.11:g.46277615_46277629del, NC_000022.11:g.46277616_46277629del, NC_000022.11:g.46277617_46277629del, NC_000022.11:g.46277618_46277629del, NC_000022.11:g.46277619_46277629del, NC_000022.11:g.46277620_46277629del, NC_000022.11:g.46277621_46277629del, NC_000022.11:g.46277622_46277629del, NC_000022.11:g.46277623_46277629del, NC_000022.11:g.46277624_46277629del, NC_000022.11:g.46277625_46277629del, NC_000022.11:g.46277626_46277629del, NC_000022.11:g.46277627_46277629del, NC_000022.11:g.46277628_46277629del, NC_000022.11:g.46277629del, NC_000022.11:g.46277629dup, NC_000022.11:g.46277628_46277629dup, NC_000022.11:g.46277627_46277629dup, NC_000022.10:g.46673512_46673526del, NC_000022.10:g.46673513_46673526del, NC_000022.10:g.46673514_46673526del, NC_000022.10:g.46673515_46673526del, NC_000022.10:g.46673516_46673526del, NC_000022.10:g.46673517_46673526del, NC_000022.10:g.46673518_46673526del, NC_000022.10:g.46673519_46673526del, NC_000022.10:g.46673520_46673526del, NC_000022.10:g.46673521_46673526del, NC_000022.10:g.46673522_46673526del, NC_000022.10:g.46673523_46673526del, NC_000022.10:g.46673524_46673526del, NC_000022.10:g.46673525_46673526del, NC_000022.10:g.46673526del, NC_000022.10:g.46673526dup, NC_000022.10:g.46673525_46673526dup, NC_000022.10:g.46673524_46673526dup

Select item 14915232272.

rs1491523227 [Homo sapiens]

Variant type:: INS
Alleles:: ->TATATATT [Show Flanks]
Chromosome:: 22:46276809 (GRCh38)
22:46672707 (GRCh37)
Canonical SPDI:: NC_000022.11:46276809::TATATATT
Gene:: TTC38 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATT=0.000084/1 (ALFA)
TATATATT=0.000323/41 (GnomAD)
HGVS:: NC_000022.11:g.46276809_46276810insTATATATT, NC_000022.10:g.46672706_46672707insTATATATT

Select item 14914758733.

rs1491475873 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 22:46277605 (GRCh38)
22:46673502 (GRCh37)
Canonical SPDI:: NC_000022.11:46277604:CA:
Gene:: TTC38 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00051/6 (ALFA)
HGVS:: NC_000022.11:g.46277605_46277606del, NC_000022.10:g.46673502_46673503del

Select item 14913713824.

rs1491371382 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 22:46283851 (GRCh38)
22:46679748 (GRCh37)
Canonical SPDI:: NC_000022.11:46283850:CA:
Gene:: TTC38 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00034/4 (ALFA)
HGVS:: NC_000022.11:g.46283851_46283852del, NC_000022.10:g.46679748_46679749del

Select item 14913699665.

rs1491369966 has merged into rs1242109017 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA [Show Flanks]
Chromosome:: 22:46276810 (GRCh38)
22:46672707 (GRCh37)
Canonical SPDI:: NC_000022.11:46276808:AAAA:A,NC_000022.11:46276808:AAAA:AA,NC_000022.11:46276808:AAAA:AAA
Gene:: TTC38 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000022.11:g.46276810_46276812del, NC_000022.11:g.46276811_46276812del, NC_000022.11:g.46276812del, NC_000022.10:g.46672707_46672709del, NC_000022.10:g.46672708_46672709del, NC_000022.10:g.46672709del

Select item 14913483676.

rs1491348367 has merged into rs58531030 [Homo sapiens]

Variant type:: DELINS
Alleles:: CC>-,C,CCC,CCCC,CCCCC,CCCCCC,CCCCCCC,CCCCCCCC,CCCCCCCCCC [Show Flanks]
Chromosome:: 22:46269097 (GRCh38)
22:46664994 (GRCh37)
Canonical SPDI:: NC_000022.11:46269088:CCCCCCCCCC:CCCCCCCC,NC_000022.11:46269088:CCCCCCCCCC:CCCCCCCCC,NC_000022.11:46269088:CCCCCCCCCC:CCCCCCCCCCC,NC_000022.11:46269088:CCCCCCCCCC:CCCCCCCCCCCC,NC_000022.11:46269088:CCCCCCCCCC:CCCCCCCCCCCCC,NC_000022.11:46269088:CCCCCCCCCC:CCCCCCCCCCCCCC,NC_000022.11:46269088:CCCCCCCCCC:CCCCCCCCCCCCCCC,NC_000022.11:46269088:CCCCCCCCCC:CCCCCCCCCCCCCCCC,NC_000022.11:46269088:CCCCCCCCCC:CCCCCCCCCCCCCCCCCC
Gene:: TTC38 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCCCCCCCC=0./0 (ALFA)
-=0.0431/166 (ALSPAC)
-=0.1958/818 (1000Genomes)
HGVS:: NC_000022.11:g.46269097_46269098del, NC_000022.11:g.46269098del, NC_000022.11:g.46269098dup, NC_000022.11:g.46269097_46269098dup, NC_000022.11:g.46269096_46269098dup, NC_000022.11:g.46269095_46269098dup, NC_000022.11:g.46269094_46269098dup, NC_000022.11:g.46269093_46269098dup, NC_000022.11:g.46269091_46269098dup, NC_000022.10:g.46664994_46664995del, NC_000022.10:g.46664995del, NC_000022.10:g.46664995dup, NC_000022.10:g.46664994_46664995dup, NC_000022.10:g.46664993_46664995dup, NC_000022.10:g.46664992_46664995dup, NC_000022.10:g.46664991_46664995dup, NC_000022.10:g.46664990_46664995dup, NC_000022.10:g.46664988_46664995dup

Select item 14912656177.

rs1491265617 has merged into rs4044315 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACACACACACACACACACACACA>-,CACA,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACA [Show Flanks]
Chromosome:: 22:46277060 (GRCh38)
22:46672957 (GRCh37)
Canonical SPDI:: NC_000022.11:46277046:ACACACACACACACACACACACACACACACACACACACA:ACACACACACACA,NC_000022.11:46277046:ACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACA,NC_000022.11:46277046:ACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACA,NC_000022.11:46277046:ACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACA,NC_000022.11:46277046:ACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000022.11:46277046:ACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000022.11:46277046:ACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000022.11:46277046:ACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000022.11:46277046:ACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA,NC_000022.11:46277046:ACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA,NC_000022.11:46277046:ACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA,NC_000022.11:46277046:ACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACA,NC_000022.11:46277046:ACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACA,NC_000022.11:46277046:ACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACA,NC_000022.11:46277046:ACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACA,NC_000022.11:46277046:ACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACA,NC_000022.11:46277046:ACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000022.11:46277046:ACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000022.11:46277046:ACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACA
Gene:: TTC38 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACACACA=0./0 (ALFA)
-=0.3109/1557 (1000Genomes)
HGVS:: NC_000022.11:g.46277048CA[6], NC_000022.11:g.46277048CA[8], NC_000022.11:g.46277048CA[9], NC_000022.11:g.46277048CA[10], NC_000022.11:g.46277048CA[11], NC_000022.11:g.46277048CA[12], NC_000022.11:g.46277048CA[13], NC_000022.11:g.46277048CA[14], NC_000022.11:g.46277048CA[15], NC_000022.11:g.46277048CA[16], NC_000022.11:g.46277048CA[17], NC_000022.11:g.46277048CA[18], NC_000022.11:g.46277048CA[20], NC_000022.11:g.46277048CA[21], NC_000022.11:g.46277048CA[22], NC_000022.11:g.46277048CA[23], NC_000022.11:g.46277048CA[24], NC_000022.11:g.46277048CA[25], NC_000022.11:g.46277048CA[26], NC_000022.10:g.46672945CA[6], NC_000022.10:g.46672945CA[8], NC_000022.10:g.46672945CA[9], NC_000022.10:g.46672945CA[10], NC_000022.10:g.46672945CA[11], NC_000022.10:g.46672945CA[12], NC_000022.10:g.46672945CA[13], NC_000022.10:g.46672945CA[14], NC_000022.10:g.46672945CA[15], NC_000022.10:g.46672945CA[16], NC_000022.10:g.46672945CA[17], NC_000022.10:g.46672945CA[18], NC_000022.10:g.46672945CA[20], NC_000022.10:g.46672945CA[21], NC_000022.10:g.46672945CA[22], NC_000022.10:g.46672945CA[23], NC_000022.10:g.46672945CA[24], NC_000022.10:g.46672945CA[25], NC_000022.10:g.46672945CA[26]

Select item 14912311688.

rs1491231168 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 22:46269098 (GRCh38)
22:46664996 (GRCh37)
Canonical SPDI:: NC_000022.11:46269098::G
Gene:: TTC38 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000021/3 (GnomAD)
G=0.000038/10 (TOPMED)
HGVS:: NC_000022.11:g.46269098_46269099insG, NC_000022.10:g.46664995_46664996insG

Select item 14911395019.

rs1491139501 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,AAAA [Show Flanks]
Chromosome:: 22:46276842 (GRCh38)
22:46672739 (GRCh37)
Canonical SPDI:: NC_000022.11:46276840:AAA:A,NC_000022.11:46276840:AAA:AAAAA
Gene:: TTC38 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.46276842_46276843del, NC_000022.11:g.46276842_46276843dup, NC_000022.10:g.46672739_46672740del, NC_000022.10:g.46672739_46672740dup

Select item 149112164310.

rs1491121643 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 22:46276730 (GRCh38)
22:46672627 (GRCh37)
Canonical SPDI:: NC_000022.11:46276729:TA:
Gene:: TTC38 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000022.11:g.46276730_46276731del, NC_000022.10:g.46672627_46672628del

Select item 149106235311.

rs1491062353 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 22:46269097 (GRCh38)
22:46664995 (GRCh37)
Canonical SPDI:: NC_000022.11:46269097::A
Gene:: TTC38 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000022.11:g.46269097_46269098insA, NC_000022.10:g.46664994_46664995insA

Select item 149094555312.

rs1490945553 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:46274057 (GRCh38)
22:46669954 (GRCh37)
Canonical SPDI:: NC_000022.11:46274056:C:T
Gene:: TTC38 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.46274057C>T, NC_000022.10:g.46669954C>T, NM_017931.4:c.353C>T, NM_017931.3:c.353C>T, NM_017931.2:c.353C>T, XM_011530260.4:c.353C>T, XM_011530260.3:c.353C>T, XM_011530260.2:c.353C>T, XM_011530260.1:c.353C>T, XM_047441438.1:c.158C>T, XM_047441439.1:c.353C>T, XM_047441440.1:c.353C>T, NP_060401.3:p.Thr118Ile, XP_011528562.1:p.Thr118Ile, XP_047297394.1:p.Thr53Ile, XP_047297395.1:p.Thr118Ile, XP_047297396.1:p.Thr118Ile

Select item 149085329713.

rs1490853297 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:46288079 (GRCh38)
22:46683976 (GRCh37)
Canonical SPDI:: NC_000022.11:46288078:G:A
Gene:: TTC38 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.46288079G>A, NC_000022.10:g.46683976G>A

Select item 149081425814.

rs1490814258 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 22:46282857 (GRCh38)
22:46678754 (GRCh37)
Canonical SPDI:: NC_000022.11:46282856:C:G
Gene:: TTC38 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_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_000022.11:g.46282857C>G, NC_000022.10:g.46678754C>G

Select item 149055940615.

rs1490559406 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 22:46275862 (GRCh38)
22:46671759 (GRCh37)
Canonical SPDI:: NC_000022.11:46275861:A:T
Gene:: TTC38 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000035/1 (TOMMO)
HGVS:: NC_000022.11:g.46275862A>T, NC_000022.10:g.46671759A>T

Select item 149053372516.

rs1490533725 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 22:46277678 (GRCh38)
22:46673575 (GRCh37)
Canonical SPDI:: NC_000022.11:46277677:C:A
Gene:: TTC38 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000023/6 (TOPMED)
HGVS:: NC_000022.11:g.46277678C>A, NC_000022.10:g.46673575C>A

Select item 149043912417.

rs1490439124 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:46290214 (GRCh38)
22:46686111 (GRCh37)
Canonical SPDI:: NC_000022.11:46290213:C:T
Gene:: TTC38 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000022.11:g.46290214C>T, NC_000022.10:g.46686111C>T

Select item 149026143118.

rs1490261431 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:46290859 (GRCh38)
22:46686756 (GRCh37)
Canonical SPDI:: NC_000022.11:46290858:G:A
Gene:: TTC38 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000015/4 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000022.11:g.46290859G>A, NC_000022.10:g.46686756G>A

Select item 149004239219.

rs1490042392 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 22:46276922 (GRCh38)
22:46672819 (GRCh37)
Canonical SPDI:: NC_000022.11:46276921:C:A
Gene:: TTC38 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.46276922C>A, NC_000022.10:g.46672819C>A

Select item 149002975520.

rs1490029755 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 22:46274739 (GRCh38)
22:46670636 (GRCh37)
Canonical SPDI:: NC_000022.11:46274738:T:G
Gene:: TTC38 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0./0 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.46274739T>G, NC_000022.10:g.46670636T>G

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