SNP Links for Gene (Select 64975) - SNP

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Select item 14909506751.

rs1490950675 [Homo sapiens]

Variant type:: DEL
Alleles:: GAGCCCCGCCCCGCGAGCCCCGCCCCG>- [Show Flanks]
Chromosome:: 9:137551691 (GRCh38)
9:140446143 (GRCh37)
Canonical SPDI:: NC_000009.12:137551690:GAGCCCCGCCCCGCGAGCCCCGCCCCG:
Gene:: MRPL41 (Varview), PNPLA7 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: -=0.00059/7 (ALFA)
HGVS:: NC_000009.12:g.137551691_137551717del, NC_000009.11:g.140446143_140446169del

Select item 14908134032.

rs1490813403 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 9:137552560 (GRCh38)
9:140447012 (GRCh37)
Canonical SPDI:: NC_000009.12:137552559:G:C
Gene:: MRPL41 (Varview), LOC124902317 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.137552560G>C, NC_000009.11:g.140447012G>C, NG_051807.1:g.31376C>G, XR_007061883.1:n.236C>G

Select item 14903048533.

rs1490304853 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:137550004 (GRCh38)
9:140444456 (GRCh37)
Canonical SPDI:: NC_000009.12:137550003:A:G
Gene:: MRPL41 (Varview), PNPLA7 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.137550004A>G, NC_000009.11:g.140444456A>G

Select item 14899630194.

rs1489963019 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:137551249 (GRCh38)
9:140445701 (GRCh37)
Canonical SPDI:: NC_000009.12:137551248:G:A
Gene:: MRPL41 (Varview), PNPLA7 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.137551249G>A, NC_000009.11:g.140445701G>A

Select item 14881424675.

rs1488142467 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:137549947 (GRCh38)
9:140444399 (GRCh37)
Canonical SPDI:: NC_000009.12:137549946:G:A
Gene:: MRPL41 (Varview), PNPLA7 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.137549947G>A, NC_000009.11:g.140444399G>A

Select item 14880831656.

rs1488083165 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 9:137551779 (GRCh38)
9:140446231 (GRCh37)
Canonical SPDI:: NC_000009.12:137551778:C:A
Gene:: MRPL41 (Varview), PNPLA7 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0.00014/2 (ALFA)
HGVS:: NC_000009.12:g.137551779C>A, NC_000009.11:g.140446231C>A

Select item 14872337657.

rs1487233765 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:137552043 (GRCh38)
9:140446495 (GRCh37)
Canonical SPDI:: NC_000009.12:137552042:G:A
Gene:: MRPL41 (Varview), PNPLA7 (Varview), LOC124902317 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.137552043G>A, NC_000009.11:g.140446495G>A

Select item 14860762298.

rs1486076229 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 9:137551010 (GRCh38)
9:140445462 (GRCh37)
Canonical SPDI:: NC_000009.12:137551009:T:G
Gene:: MRPL41 (Varview), PNPLA7 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.03001/356 (ALFA)
T=0./0 (SGDP_PRJ)
G=0.04026/88 (KOREAN)
HGVS:: NC_000009.12:g.137551010T>G, NC_000009.11:g.140445462T>G

Select item 14859928939.

rs1485992893 [Homo sapiens]

Variant type:: INS
Alleles:: ->ACCCCGCACCGCCG,CCCC,CCCCGCACCGCCG,CCCGCACCGCCGGC,CCGCCG [Show Flanks]
Chromosome:: 9:137551734 (GRCh38)
9:140446187 (GRCh37)
Canonical SPDI:: NC_000009.12:137551734::ACCCCGCACCGCCG,NC_000009.12:137551734::CCCC,NC_000009.12:137551734::CCCCGCACCGCCG,NC_000009.12:137551734::CCCGCACCGCCGGC,NC_000009.12:137551734::CCGCCG
Gene:: MRPL41 (Varview), PNPLA7 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by cluster
HGVS:: NC_000009.12:g.137551734_137551735insACCCCGCACCGCCG, NC_000009.12:g.137551734_137551735insCCCC, NC_000009.12:g.137551734_137551735insCCCCGCACCGCCG, NC_000009.12:g.137551734_137551735insCCCGCACCGCCGGC, NC_000009.12:g.137551734_137551735insCCGCCG, NC_000009.11:g.140446186_140446187insACCCCGCACCGCCG, NC_000009.11:g.140446186_140446187insCCCC, NC_000009.11:g.140446186_140446187insCCCCGCACCGCCG, NC_000009.11:g.140446186_140446187insCCCGCACCGCCGGC, NC_000009.11:g.140446186_140446187insCCGCCG

Select item 148556311010.

rs1485563110 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 9:137552784 (GRCh38)
9:140447236 (GRCh37)
Canonical SPDI:: NC_000009.12:137552783:A:T
Gene:: MRPL41 (Varview), LOC124902317 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,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_000009.12:g.137552784A>T, NC_000009.11:g.140447236A>T, NG_051807.1:g.31152T>A

Select item 148505576311.

rs1485055763 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 9:137552649 (GRCh38)
9:140447101 (GRCh37)
Canonical SPDI:: NC_000009.12:137552648:G:C
Gene:: MRPL41 (Varview), LOC124902317 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000023/6 (TOPMED)
C=0.000156/1 (1000Genomes)
C=0.00463/1 (Vietnamese)
HGVS:: NC_000009.12:g.137552649G>C, NC_000009.11:g.140447101G>C, NG_051807.1:g.31287C>G, XR_007061883.1:n.147C>G

Select item 148465126112.

rs1484651261 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 9:137550233 (GRCh38)
9:140444685 (GRCh37)
Canonical SPDI:: NC_000009.12:137550232:C:G
Gene:: MRPL41 (Varview), PNPLA7 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.137550233C>G, NC_000009.11:g.140444685C>G, NM_152286.5:c.-36G>C, NM_152286.4:c.-36G>C, NM_152286.3:c.-36G>C, XR_929792.3:n.170G>C, XR_929792.2:n.302G>C, XR_929792.1:n.302G>C, NM_001098537.3:c.-36G>C, NM_001098537.2:c.-36G>C, NM_001098537.1:c.-36G>C, XM_011518664.3:c.-36G>C, XM_011518664.2:c.-36G>C, XM_011518664.1:c.-36G>C, XR_001746292.2:n.170G>C, XR_001746292.1:n.302G>C, XM_006717102.2:c.-36G>C, XM_006717102.1:c.-36G>C, XR_929793.2:n.170G>C, XR_929793.1:n.302G>C, XR_929794.2:n.170G>C, XR_929794.1:n.302G>C, XM_047423364.1:c.-36G>C, XM_047423365.1:c.-36G>C

Select item 148419173813.

rs1484191738 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:137551062 (GRCh38)
9:140445514 (GRCh37)
Canonical SPDI:: NC_000009.12:137551061:A:G
Gene:: MRPL41 (Varview), PNPLA7 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.08886/1054 (ALFA)
G=0.00007/1 (GnomAD)
G=0.1445/376 (KOREAN)
A=0.25/1 (SGDP_PRJ)
HGVS:: NC_000009.12:g.137551062A>G, NC_000009.11:g.140445514A>G

Select item 148370105714.

rs1483701057 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:137552790 (GRCh38)
9:140447242 (GRCh37)
Canonical SPDI:: NC_000009.12:137552789:C:T
Gene:: MRPL41 (Varview), LOC124902317 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000035/1 (TOMMO)
T=0.000685/2 (KOREAN)
HGVS:: NC_000009.12:g.137552790C>T, NC_000009.11:g.140447242C>T, NG_051807.1:g.31146G>A

Select item 148304013415.

rs1483040134 has merged into rs1254497472 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCCGCGAGCCCCGCCCCGCGAGCCCCGCCCCGCGAGCCCCGCCCCGCGAGCCCCGCCCCGCGAGCCCCGC>-,CCCGCGAGCCCCGC,CCCGCGAGCCCCGCCCCGCGAGCCCCGC,CCCGCGAGCCCCGCCCCGCGAGCCCCGCCCCGCGAGCCCCGC,CCCGCGAGCCCCGCCCCGCGAGCCCCGCCCCGCGAGCCCCGCCCCGCGAGCCCCGC,CCCGCGAGCCCCGCCCCGCGAGCCCCGCCCCGCGAGCCCCGCCCCGCGAGCCCCGCCCCGCGAGCCCCGCCCCGCGAGCCCCGC,CCCGCGAGCCCCGCCCCGCGAGCCCCGCCCCGCGAGCCCCGCCCCGCGAGCCCCGCCCCGCGAGCCCCGCCCCGCGAGCCCCGCCCCGCGAGCCCCGC,CCCGCGAGCCCCGCCCCGCGAGCCCCGCCCCGCGAGCCCCGCCCCGCGAGCCCCGCCCCGCGAGCCCCGCCCCGCGAGCCCCGCCCCGCGAGCCCCGCCCCGCGAGCCCCGC [Show Flanks]
Chromosome:: 9:137551672 (GRCh38)
9:140446124 (GRCh37)
Canonical SPDI:: NC_000009.12:137551649:AGCCCCGCCCCGCGAGCCCCGCCCCGCGAGCCCCGCCCCGCGAGCCCCGCCCCGCGAGCCCCGCCCCGCGAGCCCCGCCCCGCGAGCCCCGC:AGCCCCGCCCCGCGAGCCCCGC,NC_000009.12:137551649:AGCCCCGCCCCGCGAGCCCCGCCCCGCGAGCCCCGCCCCGCGAGCCCCGCCCCGCGAGCCCCGCCCCGCGAGCCCCGCCCCGCGAGCCCCGC:AGCCCCGCCCCGCGAGCCCCGCCCCGCGAGCCCCGC,NC_000009.12:137551649:AGCCCCGCCCCGCGAGCCCCGCCCCGCGAGCCCCGCCCCGCGAGCCCCGCCCCGCGAGCCCCGCCCCGCGAGCCCCGCCCCGCGAGCCCCGC:AGCCCCGCCCCGCGAGCCCCGCCCCGCGAGCCCCGCCCCGCGAGCCCCGC,NC_000009.12:137551649:AGCCCCGCCCCGCGAGCCCCGCCCCGCGAGCCCCGCCCCGCGAGCCCCGCCCCGCGAGCCCCGCCCCGCGAGCCCCGCCCCGCGAGCCCCGC:AGCCCCGCCCCGCGAGCCCCGCCCCGCGAGCCCCGCCCCGCGAGCCCCGCCCCGCGAGCCCCGC,NC_000009.12:137551649:AGCCCCGCCCCGCGAGCCCCGCCCCGCGAGCCCCGCCCCGCGAGCCCCGCCCCGCGAGCCCCGCCCCGCGAGCCCCGCCCCGCGAGCCCCGC:AGCCCCGCCCCGCGAGCCCCGCCCCGCGAGCCCCGCCCCGCGAGCCCCGCCCCGCGAGCCCCGCCCCGCGAGCCCCGC,NC_000009.12:137551649:AGCCCCGCCCCGCGAGCCCCGCCCCGCGAGCCCCGCCCCGCGAGCCCCGCCCCGCGAGCCCCGCCCCGCGAGCCCCGCCCCGCGAGCCCCGC:AGCCCCGCCCCGCGAGCCCCGCCCCGCGAGCCCCGCCCCGCGAGCCCCGCCCCGCGAGCCCCGCCCCGCGAGCCCCGCCCCGCGAGCCCCGCCCCGCGAGCCCCGC,NC_000009.12:137551649:AGCCCCGCCCCGCGAGCCCCGCCCCGCGAGCCCCGCCCCGCGAGCCCCGCCCCGCGAGCCCCGCCCCGCGAGCCCCGCCCCGCGAGCCCCGC:AGCCCCGCCCCGCGAGCCCCGCCCCGCGAGCCCCGCCCCGCGAGCCCCGCCCCGCGAGCCCCGCCCCGCGAGCCCCGCCCCGCGAGCCCCGCCCCGCGAGCCCCGCCCCGCGAGCCCCGC,NC_000009.12:137551649:AGCCCCGCCCCGCGAGCCCCGCCCCGCGAGCCCCGCCCCGCGAGCCCCGCCCCGCGAGCCCCGCCCCGCGAGCCCCGCCCCGCGAGCCCCGC:AGCCCCGCCCCGCGAGCCCCGCCCCGCGAGCCCCGCCCCGCGAGCCCCGCCCCGCGAGCCCCGCCCCGCGAGCCCCGCCCCGCGAGCCCCGCCCCGCGAGCCCCGCCCCGCGAGCCCCGCCCCGCGAGCCCCGC
Gene:: MRPL41 (Varview), PNPLA7 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGCCCCGCCCCGCGAGCCCCGCCCCGCGAGCCCCGCCCCGCGAGCCCCGCCCCGCGAGCCCCGCCCCGCGAGCCCCGC=0./0 (ALFA)
-=0.00115/2 (Korea1K)
HGVS:: NC_000009.12:g.137551658CCCGCGAGCCCCGC[1], NC_000009.12:g.137551658CCCGCGAGCCCCGC[2], NC_000009.12:g.137551658CCCGCGAGCCCCGC[3], NC_000009.12:g.137551658CCCGCGAGCCCCGC[4], NC_000009.12:g.137551658CCCGCGAGCCCCGC[5], NC_000009.12:g.137551658CCCGCGAGCCCCGC[7], NC_000009.12:g.137551658CCCGCGAGCCCCGC[8], NC_000009.12:g.137551658CCCGCGAGCCCCGC[9], NC_000009.11:g.140446110CCCGCGAGCCCCGC[1], NC_000009.11:g.140446110CCCGCGAGCCCCGC[2], NC_000009.11:g.140446110CCCGCGAGCCCCGC[3], NC_000009.11:g.140446110CCCGCGAGCCCCGC[4], NC_000009.11:g.140446110CCCGCGAGCCCCGC[5], NC_000009.11:g.140446110CCCGCGAGCCCCGC[7], NC_000009.11:g.140446110CCCGCGAGCCCCGC[8], NC_000009.11:g.140446110CCCGCGAGCCCCGC[9]

Select item 148207186016.

rs1482071860 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:137552371 (GRCh38)
9:140446823 (GRCh37)
Canonical SPDI:: NC_000009.12:137552370:C:T
Gene:: MRPL41 (Varview), PNPLA7 (Varview), LOC124902317 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.137552371C>T, NC_000009.11:g.140446823C>T, NM_032477.3:c.290C>T, NM_032477.2:c.290C>T, NP_115866.1:p.Ala97Val

Select item 148196931517.

rs1481969315 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 9:137551760 (GRCh38)
9:140446212 (GRCh37)
Canonical SPDI:: NC_000009.12:137551759:C:A,NC_000009.12:137551759:C:G
Gene:: MRPL41 (Varview), PNPLA7 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.137551760C>A, NC_000009.12:g.137551760C>G, NC_000009.11:g.140446212C>A, NC_000009.11:g.140446212C>G

Select item 148179428918.

rs1481794289 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 9:137551623 (GRCh38)
9:140446075 (GRCh37)
Canonical SPDI:: NC_000009.12:137551622:C:A,NC_000009.12:137551622:C:G
Gene:: MRPL41 (Varview), PNPLA7 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00005/1 (ALFA)
A=0.00022/1 (Estonian)
HGVS:: NC_000009.12:g.137551623C>A, NC_000009.12:g.137551623C>G, NC_000009.11:g.140446075C>A, NC_000009.11:g.140446075C>G

Select item 148156811719.

rs1481568117 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 9:137551706 (GRCh38)
9:140446158 (GRCh37)
Canonical SPDI:: NC_000009.12:137551705:A:C,NC_000009.12:137551705:A:G
Gene:: MRPL41 (Varview), PNPLA7 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00489/9 (KOREAN)
G=0.00867/138 (TOMMO)
A=0.48214/27 (SGDP_PRJ)
HGVS:: NC_000009.12:g.137551706A>C, NC_000009.12:g.137551706A>G, NC_000009.11:g.140446158A>C, NC_000009.11:g.140446158A>G

Select item 148153793520.

rs1481537935 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 9:137551242 (GRCh38)
9:140445694 (GRCh37)
Canonical SPDI:: NC_000009.12:137551241:C:A,NC_000009.12:137551241:C:G
Gene:: MRPL41 (Varview), PNPLA7 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000015/4 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000009.12:g.137551242C>A, NC_000009.12:g.137551242C>G, NC_000009.11:g.140445694C>A, NC_000009.11:g.140445694C>G

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