SNP Links for Nucleotide (Select 156151367) - SNP

Links from Nucleotide

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Select item 14893241361.

rs1489324136 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:96010716 (GRCh38)
2:96676464 (GRCh37)
Canonical SPDI:: NC_000002.12:96010715:G:A
Gene:: FAHD2CP (Varview), LOC124900512 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000068/9 (GnomAD)
HGVS:: NC_000002.12:g.96010716G>A, NC_000002.11:g.96676464G>A, NR_003698.1:n.166G>A

Select item 14890069832.

rs1489006983 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 2:96010676 (GRCh38)
2:96676424 (GRCh37)
Canonical SPDI:: NC_000002.12:96010675:G:C,NC_000002.12:96010675:G:T
Gene:: FAHD2CP (Varview), LOC124900512 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.96010676G>C, NC_000002.12:g.96010676G>T, NC_000002.11:g.96676424G>C, NC_000002.11:g.96676424G>T, NR_003698.1:n.126G>C, NR_003698.1:n.126G>T

Select item 14788257263.

rs1478825726 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:96010581 (GRCh38)
2:96676329 (GRCh37)
Canonical SPDI:: NC_000002.12:96010580:G:T
Gene:: FAHD2CP (Varview), LOC124900512 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.96010581G>T, NC_000002.11:g.96676329G>T, NR_003698.1:n.31G>T

Select item 14770893084.

rs1477089308 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:96022939 (GRCh38)
2:96688687 (GRCh37)
Canonical SPDI:: NC_000002.12:96022938:C:T
Gene:: GPAT2 (Varview), FAHD2CP (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.96022939C>T, NC_000002.11:g.96688687C>T, XR_007069658.1:n.2291G>A, XR_007069659.1:n.2159G>A, XR_007069660.1:n.2081G>A, NR_003698.1:n.655C>T

Select item 14697895265.

rs1469789526 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:96022709 (GRCh38)
2:96688457 (GRCh37)
Canonical SPDI:: NC_000002.12:96022708:T:G
Gene:: GPAT2 (Varview), FAHD2CP (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.96022709T>G, NC_000002.11:g.96688457T>G, NM_207328.4:c.2230A>C, NM_207328.3:c.2230A>C, NM_207328.2:c.2230A>C, NM_001321531.2:c.1977A>C, NM_001321531.1:c.1977A>C, NM_001321526.2:c.2248A>C, NM_001321526.1:c.2248A>C, NM_001321527.2:c.2248A>C, NM_001321527.1:c.2248A>C, NM_001321528.2:c.2238A>C, NM_001321528.1:c.2238A>C, XM_017003424.2:c.2248A>C, XM_017003424.1:c.2248A>C, NM_001321525.2:c.2248A>C, NM_001321525.1:c.2248A>C, NM_001321529.2:c.2035A>C, NM_001321529.1:c.2035A>C, NM_001321530.2:c.2017A>C, NM_001321530.1:c.2017A>C, XM_047443462.1:c.2330A>C, XM_047443464.1:c.2330A>C, XM_047443466.1:c.2230A>C, NM_001389639.1:c.1917A>C, XM_047443468.1:c.2230A>C, XR_007069658.1:n.2521A>C, XM_047443461.1:c.2330A>C, XM_047443465.1:c.2312A>C, XM_047443463.1:c.2330A>C, XR_007069659.1:n.2389A>C, XM_047443467.1:c.2230A>C, XR_007069660.1:n.2311A>C, XM_047443469.1:c.2127A>C, XM_047443470.1:c.1995A>C, XM_047443471.1:c.1977A>C, XM_047443472.1:c.1917A>C, NR_003698.1:n.425T>G, NP_997211.2:p.Lys744Gln, NP_001308460.1:p.Gln659His, NP_001308455.1:p.Lys750Gln, NP_001308456.1:p.Lys750Gln, NP_001308457.1:p.Gln746His, XP_016858913.1:p.Lys750Gln, NP_001308454.1:p.Lys750Gln, NP_001308458.1:p.Lys679Gln, NP_001308459.1:p.Lys673Gln, XP_047299418.1:p.Lys777Thr, XP_047299420.1:p.Lys777Thr, XP_047299422.1:p.Lys744Gln, NP_001376568.1:p.Gln639His, XP_047299424.1:p.Lys744Gln, XP_047299417.1:p.Lys777Thr, XP_047299421.1:p.Lys771Thr, XP_047299419.1:p.Lys777Thr, XP_047299423.1:p.Lys744Gln, XP_047299425.1:p.Gln709His, XP_047299426.1:p.Gln665His, XP_047299427.1:p.Gln659His, XP_047299428.1:p.Gln639His

Select item 14683592866.

rs1468359286 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 2:96010552 (GRCh38)
2:96676300 (GRCh37)
Canonical SPDI:: NC_000002.12:96010551:C:G,NC_000002.12:96010551:C:T
Gene:: FAHD2CP (Varview), LOC124900512 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000002.12:g.96010552C>G, NC_000002.12:g.96010552C>T, NC_000002.11:g.96676300C>G, NC_000002.11:g.96676300C>T, NR_003698.1:n.2C>G, NR_003698.1:n.2C>T

Select item 14639798977.

rs1463979897 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:96023033 (GRCh38)
2:96688781 (GRCh37)
Canonical SPDI:: NC_000002.12:96023032:A:G
Gene:: GPAT2 (Varview), FAHD2CP (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.96023033A>G, NC_000002.11:g.96688781A>G, XM_047443462.1:c.2240T>C, XM_047443464.1:c.2240T>C, XM_047443461.1:c.2240T>C, XM_047443465.1:c.2222T>C, XM_047443463.1:c.2240T>C, NR_003698.1:n.749A>G, XP_047299418.1:p.Leu747Pro, XP_047299420.1:p.Leu747Pro, XP_047299417.1:p.Leu747Pro, XP_047299421.1:p.Leu741Pro, XP_047299419.1:p.Leu747Pro

Select item 14607572618.

rs1460757261 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 2:96010590 (GRCh38)
2:96676338 (GRCh37)
Canonical SPDI:: NC_000002.12:96010589:G:A,NC_000002.12:96010589:G:C,NC_000002.12:96010589:G:T
Gene:: FAHD2CP (Varview), LOC124900512 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.96010590G>A, NC_000002.12:g.96010590G>C, NC_000002.12:g.96010590G>T, NC_000002.11:g.96676338G>A, NC_000002.11:g.96676338G>C, NC_000002.11:g.96676338G>T, NR_003698.1:n.40G>A, NR_003698.1:n.40G>C, NR_003698.1:n.40G>T

Select item 14526316539.

rs1452631653 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:96010566 (GRCh38)
2:96676314 (GRCh37)
Canonical SPDI:: NC_000002.12:96010565:T:C
Gene:: FAHD2CP (Varview), LOC124900512 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000169/2 (ALFA)
C=0.000064/9 (GnomAD)
HGVS:: NC_000002.12:g.96010566T>C, NC_000002.11:g.96676314T>C, NR_003698.1:n.16T>C

Select item 145199635210.

rs1451996352 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 2:96022846 (GRCh38)
2:96688594 (GRCh37)
Canonical SPDI:: NC_000002.12:96022844:TGT:T
Gene:: GPAT2 (Varview), FAHD2CP (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000029/4 (GnomAD)
HGVS:: NC_000002.12:g.96022846_96022847del, NC_000002.11:g.96688594_96688595del, XR_007069658.1:n.2384_2385del, XR_007069659.1:n.2252_2253del, XR_007069660.1:n.2174_2175del, NR_003698.1:n.562_563del

Select item 145113860411.

rs1451138604 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:96010583 (GRCh38)
2:96676331 (GRCh37)
Canonical SPDI:: NC_000002.12:96010582:A:T
Gene:: FAHD2CP (Varview), LOC124900512 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00005/7 (GnomAD)
HGVS:: NC_000002.12:g.96010583A>T, NC_000002.11:g.96676331A>T, NR_003698.1:n.33A>T

Select item 144917835212.

rs1449178352 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:96023048 (GRCh38)
2:96688796 (GRCh37)
Canonical SPDI:: NC_000002.12:96023047:C:T
Gene:: GPAT2 (Varview), FAHD2CP (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant,intron_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_000002.12:g.96023048C>T, NC_000002.11:g.96688796C>T, XM_047443462.1:c.2225G>A, XM_047443464.1:c.2225G>A, XM_047443461.1:c.2225G>A, XM_047443465.1:c.2207G>A, XM_047443463.1:c.2225G>A, NR_003698.1:n.764C>T, XP_047299418.1:p.Arg742Lys, XP_047299420.1:p.Arg742Lys, XP_047299417.1:p.Arg742Lys, XP_047299421.1:p.Arg736Lys, XP_047299419.1:p.Arg742Lys

Select item 144898059113.

rs1448980591 has merged into rs762732146 [Homo sapiens]

Variant type:: DELINS
Alleles:: GCCGCCGCC>-,GCC,GCCGCC,GCCGCCGCCGCC,GCCGCCGCCGCCGCC,GCCGCCGCCGCCGCCGCC [Show Flanks]
Chromosome:: 2:96010722 (GRCh38)
2:96676470 (GRCh37)
Canonical SPDI:: NC_000002.12:96010712:GCCGCCGCCGCCGCCGCC:GCCGCCGCC,NC_000002.12:96010712:GCCGCCGCCGCCGCCGCC:GCCGCCGCCGCC,NC_000002.12:96010712:GCCGCCGCCGCCGCCGCC:GCCGCCGCCGCCGCC,NC_000002.12:96010712:GCCGCCGCCGCCGCCGCC:GCCGCCGCCGCCGCCGCCGCC,NC_000002.12:96010712:GCCGCCGCCGCCGCCGCC:GCCGCCGCCGCCGCCGCCGCCGCC,NC_000002.12:96010712:GCCGCCGCCGCCGCCGCC:GCCGCCGCCGCCGCCGCCGCCGCCGCC
Gene:: FAHD2CP (Varview), LOC124900512 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GCCGCCGCCGCC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
GCC=0.000106/2 (TOMMO)
GCC=0.00167/3 (Korea1K)
HGVS:: NC_000002.12:g.96010713GCC[3], NC_000002.12:g.96010713GCC[4], NC_000002.12:g.96010713GCC[5], NC_000002.12:g.96010713GCC[7], NC_000002.12:g.96010713GCC[8], NC_000002.12:g.96010713GCC[9], NC_000002.11:g.96676461GCC[3], NC_000002.11:g.96676461GCC[4], NC_000002.11:g.96676461GCC[5], NC_000002.11:g.96676461GCC[7], NC_000002.11:g.96676461GCC[8], NC_000002.11:g.96676461GCC[9], NR_003698.1:n.163GCC[3], NR_003698.1:n.163GCC[4], NR_003698.1:n.163GCC[5], NR_003698.1:n.163GCC[7], NR_003698.1:n.163GCC[8], NR_003698.1:n.163GCC[9]

Select item 144781170514.

rs1447811705 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:96022810 (GRCh38)
2:96688558 (GRCh37)
Canonical SPDI:: NC_000002.12:96022809:C:G
Gene:: GPAT2 (Varview), FAHD2CP (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.96022810C>G, NC_000002.11:g.96688558C>G, XR_007069658.1:n.2420G>C, XR_007069659.1:n.2288G>C, XR_007069660.1:n.2210G>C, NR_003698.1:n.526C>G

Select item 144458428215.

rs1444584282 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 2:96022722 (GRCh38)
2:96688470 (GRCh37)
Canonical SPDI:: NC_000002.12:96022721:C:G,NC_000002.12:96022721:C:T
Gene:: GPAT2 (Varview), FAHD2CP (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
G=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.96022722C>G, NC_000002.12:g.96022722C>T, NC_000002.11:g.96688470C>G, NC_000002.11:g.96688470C>T, NM_207328.4:c.2217G>C, NM_207328.4:c.2217G>A, NM_207328.3:c.2217G>C, NM_207328.3:c.2217G>A, NM_207328.2:c.2217G>C, NM_207328.2:c.2217G>A, NM_001321531.2:c.1964G>C, NM_001321531.2:c.1964G>A, NM_001321531.1:c.1964G>C, NM_001321531.1:c.1964G>A, NM_001321526.2:c.2235G>C, NM_001321526.2:c.2235G>A, NM_001321526.1:c.2235G>C, NM_001321526.1:c.2235G>A, NM_001321527.2:c.2235G>C, NM_001321527.2:c.2235G>A, NM_001321527.1:c.2235G>C, NM_001321527.1:c.2235G>A, NM_001321528.2:c.2225G>C, NM_001321528.2:c.2225G>A, NM_001321528.1:c.2225G>C, NM_001321528.1:c.2225G>A, XM_017003424.2:c.2235G>C, XM_017003424.2:c.2235G>A, XM_017003424.1:c.2235G>C, XM_017003424.1:c.2235G>A, NM_001321525.2:c.2235G>C, NM_001321525.2:c.2235G>A, NM_001321525.1:c.2235G>C, NM_001321525.1:c.2235G>A, NM_001321529.2:c.2022G>C, NM_001321529.2:c.2022G>A, NM_001321529.1:c.2022G>C, NM_001321529.1:c.2022G>A, NM_001321530.2:c.2004G>C, NM_001321530.2:c.2004G>A, NM_001321530.1:c.2004G>C, NM_001321530.1:c.2004G>A, XM_047443462.1:c.2317G>C, XM_047443462.1:c.2317G>A, XM_047443464.1:c.2317G>C, XM_047443464.1:c.2317G>A, XM_047443466.1:c.2217G>C, XM_047443466.1:c.2217G>A, NM_001389639.1:c.1904G>C, NM_001389639.1:c.1904G>A, XM_047443468.1:c.2217G>C, XM_047443468.1:c.2217G>A, XR_007069658.1:n.2508G>C, XR_007069658.1:n.2508G>A, XM_047443461.1:c.2317G>C, XM_047443461.1:c.2317G>A, XM_047443465.1:c.2299G>C, XM_047443465.1:c.2299G>A, XM_047443463.1:c.2317G>C, XM_047443463.1:c.2317G>A, XR_007069659.1:n.2376G>C, XR_007069659.1:n.2376G>A, XM_047443467.1:c.2217G>C, XM_047443467.1:c.2217G>A, XR_007069660.1:n.2298G>C, XR_007069660.1:n.2298G>A, XM_047443469.1:c.2114G>C, XM_047443469.1:c.2114G>A, XM_047443470.1:c.1982G>C, XM_047443470.1:c.1982G>A, XM_047443471.1:c.1964G>C, XM_047443471.1:c.1964G>A, XM_047443472.1:c.1904G>C, XM_047443472.1:c.1904G>A, NR_003698.1:n.438C>G, NR_003698.1:n.438C>T, NP_997211.2:p.Glu739Asp, NP_001308460.1:p.Ser655Thr, NP_001308460.1:p.Ser655Asn, NP_001308455.1:p.Glu745Asp, NP_001308456.1:p.Glu745Asp, NP_001308457.1:p.Ser742Thr, NP_001308457.1:p.Ser742Asn, XP_016858913.1:p.Glu745Asp, NP_001308454.1:p.Glu745Asp, NP_001308458.1:p.Glu674Asp, NP_001308459.1:p.Glu668Asp, XP_047299418.1:p.Val773Leu, XP_047299418.1:p.Val773Met, XP_047299420.1:p.Val773Leu, XP_047299420.1:p.Val773Met, XP_047299422.1:p.Glu739Asp, NP_001376568.1:p.Ser635Thr, NP_001376568.1:p.Ser635Asn, XP_047299424.1:p.Glu739Asp, XP_047299417.1:p.Val773Leu, XP_047299417.1:p.Val773Met, XP_047299421.1:p.Val767Leu, XP_047299421.1:p.Val767Met, XP_047299419.1:p.Val773Leu, XP_047299419.1:p.Val773Met, XP_047299423.1:p.Glu739Asp, XP_047299425.1:p.Ser705Thr, XP_047299425.1:p.Ser705Asn, XP_047299426.1:p.Ser661Thr, XP_047299426.1:p.Ser661Asn, XP_047299427.1:p.Ser655Thr, XP_047299427.1:p.Ser655Asn, XP_047299428.1:p.Ser635Thr, XP_047299428.1:p.Ser635Asn

Select item 144392056216.

rs1443920562 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 2:96021405 (GRCh38)
2:96687153 (GRCh37)
Canonical SPDI:: NC_000002.12:96021404:GGG:GG
Gene:: FAHD2CP (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.96021407del, NC_000002.11:g.96687155del, NR_003698.1:n.331del

Select item 144135405217.

rs1441354052 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:96022875 (GRCh38)
2:96688623 (GRCh37)
Canonical SPDI:: NC_000002.12:96022874:G:T
Gene:: GPAT2 (Varview), FAHD2CP (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000084/1 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.96022875G>T, NC_000002.11:g.96688623G>T, XR_007069658.1:n.2355C>A, XR_007069659.1:n.2223C>A, XR_007069660.1:n.2145C>A, NR_003698.1:n.591G>T

Select item 143999738518.

rs1439997385 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:96022858 (GRCh38)
2:96688606 (GRCh37)
Canonical SPDI:: NC_000002.12:96022857:C:T
Gene:: GPAT2 (Varview), FAHD2CP (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.96022858C>T, NC_000002.11:g.96688606C>T, XR_007069658.1:n.2372G>A, XR_007069659.1:n.2240G>A, XR_007069660.1:n.2162G>A, NR_003698.1:n.574C>T

Select item 143778485219.

rs1437784852 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:96010589 (GRCh38)
2:96676337 (GRCh37)
Canonical SPDI:: NC_000002.12:96010588:C:T
Gene:: FAHD2CP (Varview), LOC124900512 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000002.12:g.96010589C>T, NC_000002.11:g.96676337C>T, NR_003698.1:n.39C>T

Select item 143138256920.

rs1431382569 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:96010637 (GRCh38)
2:96676385 (GRCh37)
Canonical SPDI:: NC_000002.12:96010636:T:C
Gene:: FAHD2CP (Varview), LOC124900512 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_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_000002.12:g.96010637T>C, NC_000002.11:g.96676385T>C, NR_003698.1:n.87T>C

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