SNP Links for Nucleotide (Select 303304970) - SNP

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 12:123233598 (GRCh38)
12:123718145 (GRCh37)
Canonical SPDI:: NC_000012.12:123233597:G:A,NC_000012.12:123233597:G:C
Gene:: MPHOSPH9 (Varview), MTRFR (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
A=0.00006/1 (TOMMO)
HGVS:: NC_000012.12:g.123233598G>A, NC_000012.12:g.123233598G>C, NC_000012.11:g.123718145G>A, NC_000012.11:g.123718145G>C, NG_027517.1:g.5302G>A, NG_027517.1:g.5302G>C, NM_001194995.1:c.-355G>A, NM_001194995.1:c.-355G>C

Select item 14780881537.

rs1478088153 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:123257322 (GRCh38)
12:123741869 (GRCh37)
Canonical SPDI:: NC_000012.12:123257321:C:T
Gene:: MTRFR (Varview)
Functional Consequence:: 3_prime_UTR_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_000012.12:g.123257322C>T, NC_000012.11:g.123741869C>T, NG_027517.1:g.29026C>T, NM_152269.5:c.*291C>T, NM_152269.4:c.*291C>T, NM_001143905.2:c.*291C>T, NM_001194995.1:c.*291C>T, XM_011538980.4:c.*291C>T, XM_011538980.3:c.*291C>T, XM_011538980.2:c.*291C>T, XM_011538980.1:c.*291C>T, XM_024449273.2:c.*291C>T, XM_024449273.1:c.*291C>T, XM_047429877.1:c.*291C>T

Select item 14745107278.

rs1474510727 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:123257680 (GRCh38)
12:123742227 (GRCh37)
Canonical SPDI:: NC_000012.12:123257679:G:A
Gene:: MTRFR (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.123257680G>A, NC_000012.11:g.123742227G>A, NG_027517.1:g.29384G>A, NM_152269.5:c.*649G>A, NM_152269.4:c.*649G>A, NM_001143905.2:c.*649G>A, NM_001194995.1:c.*649G>A, XM_011538980.4:c.*649G>A, XM_011538980.3:c.*649G>A, XM_011538980.2:c.*649G>A, XM_011538980.1:c.*649G>A, XM_024449273.2:c.*649G>A, XM_024449273.1:c.*649G>A, XM_047429877.1:c.*649G>A

Select item 14738038629.

rs1473803862 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:123256891 (GRCh38)
12:123741438 (GRCh37)
Canonical SPDI:: NC_000012.12:123256890:A:G
Gene:: MTRFR (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.123256891A>G, NC_000012.11:g.123741438A>G, NG_027517.1:g.28595A>G, NM_152269.5:c.361A>G, NM_152269.4:c.361A>G, NM_001143905.2:c.361A>G, NM_001194995.1:c.361A>G, XM_011538980.4:c.361A>G, XM_011538980.3:c.361A>G, XM_011538980.2:c.361A>G, XM_011538980.1:c.361A>G, XM_024449273.2:c.361A>G, XM_024449273.1:c.361A>G, XM_047429877.1:c.361A>G, NP_689482.1:p.Asn121Asp, NP_001137377.1:p.Asn121Asp, NP_001181924.1:p.Asn121Asp, XP_011537282.1:p.Asn121Asp, XP_024305041.1:p.Asn121Asp, XP_047285833.1:p.Asn121Asp

Select item 147210392210.

rs1472103922 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:123256814 (GRCh38)
12:123741361 (GRCh37)
Canonical SPDI:: NC_000012.12:123256813:G:A
Gene:: MTRFR (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000012.12:g.123256814G>A, NC_000012.11:g.123741361G>A, NG_027517.1:g.28518G>A, NM_152269.5:c.284G>A, NM_152269.4:c.284G>A, NM_001143905.2:c.284G>A, NM_001194995.1:c.284G>A, XM_011538980.4:c.284G>A, XM_011538980.3:c.284G>A, XM_011538980.2:c.284G>A, XM_011538980.1:c.284G>A, XM_024449273.2:c.284G>A, XM_024449273.1:c.284G>A, XM_047429877.1:c.284G>A, NP_689482.1:p.Cys95Tyr, NP_001137377.1:p.Cys95Tyr, NP_001181924.1:p.Cys95Tyr, XP_011537282.1:p.Cys95Tyr, XP_024305041.1:p.Cys95Tyr, XP_047285833.1:p.Cys95Tyr

Select item 146949019411.

rs1469490194 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:123233656 (GRCh38)
12:123718203 (GRCh37)
Canonical SPDI:: NC_000012.12:123233655:A:G
Gene:: MPHOSPH9 (Varview), MTRFR (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000012.12:g.123233656A>G, NC_000012.11:g.123718203A>G, NG_027517.1:g.5360A>G, NM_001194995.1:c.-297A>G