SNP Links for Gene (Select 28998) - SNP

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Select item 14915858651.

rs1491585865 has merged into rs200517890 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA [Show Flanks]
Chromosome:: 8:120400745 (GRCh38)
8:121412984 (GRCh37)
Canonical SPDI:: NC_000008.11:120400741:AAAAAAAA:AAA,NC_000008.11:120400741:AAAAAAAA:AAAA,NC_000008.11:120400741:AAAAAAAA:AAAAA,NC_000008.11:120400741:AAAAAAAA:AAAAAA,NC_000008.11:120400741:AAAAAAAA:AAAAAAA,NC_000008.11:120400741:AAAAAAAA:AAAAAAAAA,NC_000008.11:120400741:AAAAAAAA:AAAAAAAAAA,NC_000008.11:120400741:AAAAAAAA:AAAAAAAAAAA,NC_000008.11:120400741:AAAAAAAA:AAAAAAAAAAAA,NC_000008.11:120400741:AAAAAAAA:AAAAAAAAAAAAAA,NC_000008.11:120400741:AAAAAAAA:AAAAAAAAAAAAAAA
Gene:: MRPL13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAA=0./0 (ALFA)
-=0.0164/30 (Korea1K)
HGVS:: NC_000008.11:g.120400745_120400749del, NC_000008.11:g.120400746_120400749del, NC_000008.11:g.120400747_120400749del, NC_000008.11:g.120400748_120400749del, NC_000008.11:g.120400749del, NC_000008.11:g.120400749dup, NC_000008.11:g.120400748_120400749dup, NC_000008.11:g.120400747_120400749dup, NC_000008.11:g.120400746_120400749dup, NC_000008.11:g.120400744_120400749dup, NC_000008.11:g.120400743_120400749dup, NC_000008.10:g.121412984_121412988del, NC_000008.10:g.121412985_121412988del, NC_000008.10:g.121412986_121412988del, NC_000008.10:g.121412987_121412988del, NC_000008.10:g.121412988del, NC_000008.10:g.121412988dup, NC_000008.10:g.121412987_121412988dup, NC_000008.10:g.121412986_121412988dup, NC_000008.10:g.121412985_121412988dup, NC_000008.10:g.121412983_121412988dup, NC_000008.10:g.121412982_121412988dup

Select item 14914880722.

rs1491488072 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 8:120428125 (GRCh38)
8:121440366 (GRCh37)
Canonical SPDI:: NC_000008.11:120428125:T:TT
Gene:: MRPL13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
HGVS:: NC_000008.11:g.120428126dup, NC_000008.10:g.121440366dup

Select item 14913849343.

rs1491384934 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TAA,TAAATAA,TAAATAAATAA [Show Flanks]
Chromosome:: 8:120400742 (GRCh38)
8:121412982 (GRCh37)
Canonical SPDI:: NC_000008.11:120400742:AA:AATAA,NC_000008.11:120400742:AA:AATAAATAA,NC_000008.11:120400742:AA:AATAAATAAATAA
Gene:: MRPL13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AATAAATAA=0./0 (ALFA)
HGVS:: NC_000008.11:g.120400744_120400745insTAA, NC_000008.11:g.120400743_120400744AATA[2]A[1], NC_000008.11:g.120400743_120400744AATA[3]A[1], NC_000008.10:g.121412983_121412984insTAA, NC_000008.10:g.121412982_121412983AATA[2]A[1], NC_000008.10:g.121412982_121412983AATA[3]A[1]

Select item 14911580164.

rs1491158016 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 8:120443319 (GRCh38)
8:121455560 (GRCh37)
Canonical SPDI:: NC_000008.11:120443319::G
Gene:: MRPL13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.00001/1 (GnomAD_exomes)
G=0.00015/2 (GnomAD)
HGVS:: NC_000008.11:g.120443319_120443320insG, NC_000008.10:g.121455559_121455560insG, NG_033151.1:g.2922_2923insG

Select item 14911167365.

rs1491116736 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 8:120406555 (GRCh38)
8:121418794 (GRCh37)
Canonical SPDI:: NC_000008.11:120406554:AT:
Gene:: MRPL13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0./0 (GnomAD)
HGVS:: NC_000008.11:g.120406555_120406556del, NC_000008.10:g.121418794_121418795del

Select item 14910283656.

rs1491028365 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 8:120401714 (GRCh38)
8:121413953 (GRCh37)
Canonical SPDI:: NC_000008.11:120401711:CTCT:CT
Gene:: MRPL13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCT=0.000071/1 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.120401712CT[1], NC_000008.10:g.121413951CT[1]

Select item 14910098227.

rs1491009822 [Homo sapiens]

Variant type:: INS
Alleles:: ->CT [Show Flanks]
Chromosome:: 8:120401712 (GRCh38)
8:121413952 (GRCh37)
Canonical SPDI:: NC_000008.11:120401712::CT
Gene:: MRPL13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CT=0./0 (ALFA)
CT=0.000004/1 (TOPMED)
CT=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.120401712_120401713insCT, NC_000008.10:g.121413951_121413952insCT

Select item 14909677028.

rs1490967702 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:120409774 (GRCh38)
8:121422013 (GRCh37)
Canonical SPDI:: NC_000008.11:120409773:T:C
Gene:: MRPL13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000021/3 (GnomAD)
C=0.000023/6 (TOPMED)
C=0.000342/1 (KOREAN)
HGVS:: NC_000008.11:g.120409774T>C, NC_000008.10:g.121422013T>C

Select item 14909376949.

rs1490937694 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:120430858 (GRCh38)
8:121443098 (GRCh37)
Canonical SPDI:: NC_000008.11:120430857:A:G
Gene:: MRPL13 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000008.11:g.120430858A>G, NC_000008.10:g.121443098A>G

Select item 149092743110.

rs1490927431 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 8:120396700 (GRCh38)
8:121408939 (GRCh37)
Canonical SPDI:: NC_000008.11:120396699:A:T
Gene:: MRPL13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.120396700A>T, NC_000008.10:g.121408939A>T

Select item 149090503711.

rs1490905037 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:120419915 (GRCh38)
8:121432155 (GRCh37)
Canonical SPDI:: NC_000008.11:120419914:G:A
Gene:: MRPL13 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000008.11:g.120419915G>A, NC_000008.10:g.121432155G>A, NM_014078.6:c.330C>T, NM_014078.5:c.330C>T

Select item 149084933512.

rs1490849335 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 8:120438534 (GRCh38)
8:121450774 (GRCh37)
Canonical SPDI:: NC_000008.11:120438533:A:C,NC_000008.11:120438533:A:G
Gene:: MRPL13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.120438534A>C, NC_000008.11:g.120438534A>G, NC_000008.10:g.121450774A>C, NC_000008.10:g.121450774A>G

Select item 149080878713.

rs1490808787 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 8:120417707 (GRCh38)
8:121429947 (GRCh37)
Canonical SPDI:: NC_000008.11:120417706:T:A
Gene:: MRPL13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000224/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000008.11:g.120417707T>A, NC_000008.10:g.121429947T>A

Select item 149062845814.

rs1490628458 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:120445709 (GRCh38)
8:121457949 (GRCh37)
Canonical SPDI:: NC_000008.11:120445708:T:C
Gene:: MTBP (Varview), MRPL13 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_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_000008.11:g.120445709T>C, NC_000008.10:g.121457949T>C, NG_033151.1:g.5312T>C

Select item 149050434515.

rs1490504345 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:120395744 (GRCh38)
8:121407983 (GRCh37)
Canonical SPDI:: NC_000008.11:120395743:C:T
Gene:: MRPL13 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.120395744C>T, NC_000008.10:g.121407983C>T, NM_014078.6:c.*360G>A

Select item 149043588916.

rs1490435889 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:120396246 (GRCh38)
8:121408485 (GRCh37)
Canonical SPDI:: NC_000008.11:120396245:C:T
Gene:: MRPL13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.120396246C>T, NC_000008.10:g.121408485C>T

Select item 149042932417.

rs1490429324 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:120400583 (GRCh38)
8:121412822 (GRCh37)
Canonical SPDI:: NC_000008.11:120400582:A:G
Gene:: MRPL13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.120400583A>G, NC_000008.10:g.121412822A>G

Select item 149041395918.

rs1490413959 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:120432118 (GRCh38)
8:121444358 (GRCh37)
Canonical SPDI:: NC_000008.11:120432117:A:G
Gene:: MRPL13 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.120432118A>G, NC_000008.10:g.121444358A>G, NM_014078.6:c.157T>C, NM_014078.5:c.157T>C, NP_054797.2:p.Cys53Arg

Select item 149039772619.

rs1490397726 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:120412869 (GRCh38)
8:121425108 (GRCh37)
Canonical SPDI:: NC_000008.11:120412868:T:C
Gene:: MRPL13 (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_000008.11:g.120412869T>C, NC_000008.10:g.121425108T>C

Select item 149037566420.

rs1490375664 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 8:120428747 (GRCh38)
8:121440987 (GRCh37)
Canonical SPDI:: NC_000008.11:120428746:G:C
Gene:: MRPL13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.120428747G>C, NC_000008.10:g.121440987G>C

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