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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs768725008

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr7:150948991 (GRCh38.p14) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Alleles
G>A / G>C / G>T
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.000074 (9/121228, ExAC)
A=0.00000 (0/14050, ALFA)
C=0.00000 (0/14050, ALFA) (+ 1 more)
T=0.00000 (0/14050, ALFA)
Clinical Significance
Reported in ClinVar
Gene : Consequence
KCNH2 : Missense Variant
Publications
0 citations
Genomic View
See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 30412 G=0.99997 A=0.00000, C=0.00000, T=0.00003
European Sub 19780 G=0.99995 A=0.00000, C=0.00000, T=0.00005
African Sub 7736 G=1.0000 A=0.0000, C=0.0000, T=0.0000
African Others Sub 298 G=1.000 A=0.000, C=0.000, T=0.000
African American Sub 7438 G=1.0000 A=0.0000, C=0.0000, T=0.0000
Asian Sub 112 G=1.000 A=0.000, C=0.000, T=0.000
East Asian Sub 86 G=1.00 A=0.00, C=0.00, T=0.00
Other Asian Sub 26 G=1.00 A=0.00, C=0.00, T=0.00
Latin American 1 Sub 146 G=1.000 A=0.000, C=0.000, T=0.000
Latin American 2 Sub 610 G=1.000 A=0.000, C=0.000, T=0.000
South Asian Sub 98 G=1.00 A=0.00, C=0.00, T=0.00
Other Sub 1930 G=1.0000 A=0.0000, C=0.0000, T=0.0000


Help

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

Download
Study Population Group Sample Size Ref Allele Alt Allele
ExAC Global Study-wide 121228 G=0.999926 A=0.000074
ExAC Europe Sub 73242 G=0.99999 A=0.00001
ExAC Asian Sub 25134 G=0.99968 A=0.00032
ExAC American Sub 11558 G=1.00000 A=0.00000
ExAC African Sub 10392 G=1.00000 A=0.00000
ExAC Other Sub 902 G=1.000 A=0.000
Allele Frequency Aggregator Total Global 14050 G=1.00000 A=0.00000, C=0.00000, T=0.00000
Allele Frequency Aggregator European Sub 9690 G=1.0000 A=0.0000, C=0.0000, T=0.0000
Allele Frequency Aggregator African Sub 2898 G=1.0000 A=0.0000, C=0.0000, T=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 G=1.000 A=0.000, C=0.000, T=0.000
Allele Frequency Aggregator Other Sub 496 G=1.000 A=0.000, C=0.000, T=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 G=1.000 A=0.000, C=0.000, T=0.000
Allele Frequency Aggregator Asian Sub 112 G=1.000 A=0.000, C=0.000, T=0.000
Allele Frequency Aggregator South Asian Sub 98 G=1.00 A=0.00, C=0.00, T=0.00
Help

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements
Sequence name Change
GRCh38.p14 chr 7 NC_000007.14:g.150948991G>A
GRCh38.p14 chr 7 NC_000007.14:g.150948991G>C
GRCh38.p14 chr 7 NC_000007.14:g.150948991G>T
GRCh37.p13 chr 7 NC_000007.13:g.150646079G>A
GRCh37.p13 chr 7 NC_000007.13:g.150646079G>C
GRCh37.p13 chr 7 NC_000007.13:g.150646079G>T
KCNH2 RefSeqGene (LRG_288) NG_008916.1:g.33936C>T
KCNH2 RefSeqGene (LRG_288) NG_008916.1:g.33936C>G
KCNH2 RefSeqGene (LRG_288) NG_008916.1:g.33936C>A
Gene: KCNH2, potassium voltage-gated channel subfamily H member 2 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
KCNH2 transcript variant 4 NM_001204798.2:c. N/A Genic Downstream Transcript Variant
KCNH2 transcript variant 2 NM_172056.2:c. N/A Genic Downstream Transcript Variant
KCNH2 transcript variant 1 NM_000238.4:c.2457C>T N [AAC] > N [AAT] Coding Sequence Variant
potassium voltage-gated channel subfamily H member 2 isoform a NP_000229.1:p.Asn819= N (Asn) > N (Asn) Synonymous Variant
KCNH2 transcript variant 1 NM_000238.4:c.2457C>G N [AAC] > K [AAG] Coding Sequence Variant
potassium voltage-gated channel subfamily H member 2 isoform a NP_000229.1:p.Asn819Lys N (Asn) > K (Lys) Missense Variant
KCNH2 transcript variant 1 NM_000238.4:c.2457C>A N [AAC] > K [AAA] Coding Sequence Variant
potassium voltage-gated channel subfamily H member 2 isoform a NP_000229.1:p.Asn819Lys N (Asn) > K (Lys) Missense Variant
KCNH2 transcript variant 3 NM_172057.3:c.1437C>T N [AAC] > N [AAT] Coding Sequence Variant
potassium voltage-gated channel subfamily H member 2 isoform c NP_742054.1:p.Asn479= N (Asn) > N (Asn) Synonymous Variant
KCNH2 transcript variant 3 NM_172057.3:c.1437C>G N [AAC] > K [AAG] Coding Sequence Variant
potassium voltage-gated channel subfamily H member 2 isoform c NP_742054.1:p.Asn479Lys N (Asn) > K (Lys) Missense Variant
KCNH2 transcript variant 3 NM_172057.3:c.1437C>A N [AAC] > K [AAA] Coding Sequence Variant
potassium voltage-gated channel subfamily H member 2 isoform c NP_742054.1:p.Asn479Lys N (Asn) > K (Lys) Missense Variant
KCNH2 transcript variant X1 XM_047420348.1:c.2535C>T N [AAC] > N [AAT] Coding Sequence Variant
potassium voltage-gated channel subfamily H member 2 isoform X1 XP_047276304.1:p.Asn845= N (Asn) > N (Asn) Synonymous Variant
KCNH2 transcript variant X1 XM_047420348.1:c.2535C>G N [AAC] > K [AAG] Coding Sequence Variant
potassium voltage-gated channel subfamily H member 2 isoform X1 XP_047276304.1:p.Asn845Lys N (Asn) > K (Lys) Missense Variant
KCNH2 transcript variant X1 XM_047420348.1:c.2535C>A N [AAC] > K [AAA] Coding Sequence Variant
potassium voltage-gated channel subfamily H member 2 isoform X1 XP_047276304.1:p.Asn845Lys N (Asn) > K (Lys) Missense Variant
KCNH2 transcript variant X2 XM_017012195.2:c.2307C>T N [AAC] > N [AAT] Coding Sequence Variant
potassium voltage-gated channel subfamily H member 2 isoform X2 XP_016867684.1:p.Asn769= N (Asn) > N (Asn) Synonymous Variant
KCNH2 transcript variant X2 XM_017012195.2:c.2307C>G N [AAC] > K [AAG] Coding Sequence Variant
potassium voltage-gated channel subfamily H member 2 isoform X2 XP_016867684.1:p.Asn769Lys N (Asn) > K (Lys) Missense Variant
KCNH2 transcript variant X2 XM_017012195.2:c.2307C>A N [AAC] > K [AAA] Coding Sequence Variant
potassium voltage-gated channel subfamily H member 2 isoform X2 XP_016867684.1:p.Asn769Lys N (Asn) > K (Lys) Missense Variant
KCNH2 transcript variant X3 XM_017012196.2:c.2280C>T N [AAC] > N [AAT] Coding Sequence Variant
potassium voltage-gated channel subfamily H member 2 isoform X3 XP_016867685.1:p.Asn760= N (Asn) > N (Asn) Synonymous Variant
KCNH2 transcript variant X3 XM_017012196.2:c.2280C>G N [AAC] > K [AAG] Coding Sequence Variant
potassium voltage-gated channel subfamily H member 2 isoform X3 XP_016867685.1:p.Asn760Lys N (Asn) > K (Lys) Missense Variant
KCNH2 transcript variant X3 XM_017012196.2:c.2280C>A N [AAC] > K [AAA] Coding Sequence Variant
potassium voltage-gated channel subfamily H member 2 isoform X3 XP_016867685.1:p.Asn760Lys N (Asn) > K (Lys) Missense Variant
KCNH2 transcript variant X4 XM_011516185.3:c.2157C>T N [AAC] > N [AAT] Coding Sequence Variant
potassium voltage-gated channel subfamily H member 2 isoform X4 XP_011514487.1:p.Asn719= N (Asn) > N (Asn) Synonymous Variant
KCNH2 transcript variant X4 XM_011516185.3:c.2157C>G N [AAC] > K [AAG] Coding Sequence Variant
potassium voltage-gated channel subfamily H member 2 isoform X4 XP_011514487.1:p.Asn719Lys N (Asn) > K (Lys) Missense Variant
KCNH2 transcript variant X4 XM_011516185.3:c.2157C>A N [AAC] > K [AAA] Coding Sequence Variant
potassium voltage-gated channel subfamily H member 2 isoform X4 XP_011514487.1:p.Asn719Lys N (Asn) > K (Lys) Missense Variant
KCNH2 transcript variant X5 XM_047420349.1:c.2535C>T N [AAC] > N [AAT] Coding Sequence Variant
potassium voltage-gated channel subfamily H member 2 isoform X5 XP_047276305.1:p.Asn845= N (Asn) > N (Asn) Synonymous Variant
KCNH2 transcript variant X5 XM_047420349.1:c.2535C>G N [AAC] > K [AAG] Coding Sequence Variant
potassium voltage-gated channel subfamily H member 2 isoform X5 XP_047276305.1:p.Asn845Lys N (Asn) > K (Lys) Missense Variant
KCNH2 transcript variant X5 XM_047420349.1:c.2535C>A N [AAC] > K [AAA] Coding Sequence Variant
potassium voltage-gated channel subfamily H member 2 isoform X5 XP_047276305.1:p.Asn845Lys N (Asn) > K (Lys) Missense Variant
Help

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Allele: A (allele ID: 617347 )
ClinVar Accession Disease Names Clinical Significance
RCV000939139.7 Long QT syndrome Likely-Benign
RCV001841926.2 Cardiac arrhythmia Likely-Benign
Allele: C (allele ID: 1514000 )
ClinVar Accession Disease Names Clinical Significance
RCV001955482.3 Long QT syndrome Uncertain-Significance
Help

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement G= A C T
GRCh38.p14 chr 7 NC_000007.14:g.150948991= NC_000007.14:g.150948991G>A NC_000007.14:g.150948991G>C NC_000007.14:g.150948991G>T
GRCh37.p13 chr 7 NC_000007.13:g.150646079= NC_000007.13:g.150646079G>A NC_000007.13:g.150646079G>C NC_000007.13:g.150646079G>T
KCNH2 RefSeqGene (LRG_288) NG_008916.1:g.33936= NG_008916.1:g.33936C>T NG_008916.1:g.33936C>G NG_008916.1:g.33936C>A
KCNH2 transcript variant 1 NM_000238.4:c.2457= NM_000238.4:c.2457C>T NM_000238.4:c.2457C>G NM_000238.4:c.2457C>A
KCNH2 transcript variant 1 NM_000238.3:c.2457= NM_000238.3:c.2457C>T NM_000238.3:c.2457C>G NM_000238.3:c.2457C>A
KCNH2 transcript variant 3 NM_172057.3:c.1437= NM_172057.3:c.1437C>T NM_172057.3:c.1437C>G NM_172057.3:c.1437C>A
KCNH2 transcript variant 3 NM_172057.2:c.1437= NM_172057.2:c.1437C>T NM_172057.2:c.1437C>G NM_172057.2:c.1437C>A
KCNH2 transcript variant 9 NR_176254.1:n.2865= NR_176254.1:n.2865C>T NR_176254.1:n.2865C>G NR_176254.1:n.2865C>A
KCNH2 transcript variant 5 NM_001406753.1:c.2169= NM_001406753.1:c.2169C>T NM_001406753.1:c.2169C>G NM_001406753.1:c.2169C>A
KCNH2 transcript variant 10 NR_176255.1:n.1738= NR_176255.1:n.1738C>T NR_176255.1:n.1738C>G NR_176255.1:n.1738C>A
KCNH2 transcript variant X4 XM_011516185.3:c.2157= XM_011516185.3:c.2157C>T XM_011516185.3:c.2157C>G XM_011516185.3:c.2157C>A
KCNH2 transcript variant X2 XM_011516185.2:c.2157= XM_011516185.2:c.2157C>T XM_011516185.2:c.2157C>G XM_011516185.2:c.2157C>A
KCNH2 transcript variant X1 XM_011516185.1:c.2157= XM_011516185.1:c.2157C>T XM_011516185.1:c.2157C>G XM_011516185.1:c.2157C>A
KCNH2 transcript variant X2 XM_017012195.2:c.2307= XM_017012195.2:c.2307C>T XM_017012195.2:c.2307C>G XM_017012195.2:c.2307C>A
KCNH2 transcript variant X1 XM_017012195.1:c.2307= XM_017012195.1:c.2307C>T XM_017012195.1:c.2307C>G XM_017012195.1:c.2307C>A
KCNH2 transcript variant X3 XM_017012196.2:c.2280= XM_017012196.2:c.2280C>T XM_017012196.2:c.2280C>G XM_017012196.2:c.2280C>A
KCNH2 transcript variant X3 XM_017012196.1:c.2280= XM_017012196.1:c.2280C>T XM_017012196.1:c.2280C>G XM_017012196.1:c.2280C>A
KCNH2 transcript variant X1 XM_047420348.1:c.2535= XM_047420348.1:c.2535C>T XM_047420348.1:c.2535C>G XM_047420348.1:c.2535C>A
KCNH2 transcript variant X5 XM_047420349.1:c.2535= XM_047420349.1:c.2535C>T XM_047420349.1:c.2535C>G XM_047420349.1:c.2535C>A
potassium voltage-gated channel subfamily H member 2 isoform a NP_000229.1:p.Asn819= NP_000229.1:p.Asn819= NP_000229.1:p.Asn819Lys NP_000229.1:p.Asn819Lys
potassium voltage-gated channel subfamily H member 2 isoform c NP_742054.1:p.Asn479= NP_742054.1:p.Asn479= NP_742054.1:p.Asn479Lys NP_742054.1:p.Asn479Lys
potassium voltage-gated channel subfamily H member 2 isoform X4 XP_011514487.1:p.Asn719= XP_011514487.1:p.Asn719= XP_011514487.1:p.Asn719Lys XP_011514487.1:p.Asn719Lys
potassium voltage-gated channel subfamily H member 2 isoform X2 XP_016867684.1:p.Asn769= XP_016867684.1:p.Asn769= XP_016867684.1:p.Asn769Lys XP_016867684.1:p.Asn769Lys
potassium voltage-gated channel subfamily H member 2 isoform X3 XP_016867685.1:p.Asn760= XP_016867685.1:p.Asn760= XP_016867685.1:p.Asn760Lys XP_016867685.1:p.Asn760Lys
potassium voltage-gated channel subfamily H member 2 isoform X1 XP_047276304.1:p.Asn845= XP_047276304.1:p.Asn845= XP_047276304.1:p.Asn845Lys XP_047276304.1:p.Asn845Lys
potassium voltage-gated channel subfamily H member 2 isoform X5 XP_047276305.1:p.Asn845= XP_047276305.1:p.Asn845= XP_047276305.1:p.Asn845Lys XP_047276305.1:p.Asn845Lys
Help

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

9 SubSNP, 9 Frequency, 3 ClinVar submissions
No Submitter Submission ID Date (Build)
1 EVA_EXAC ss1689026201 Apr 01, 2015 (144)
2 HUMAN_LONGEVITY ss2299065026 Dec 20, 2016 (150)
3 GNOMAD ss2736891290 Nov 08, 2017 (151)
4 GNOMAD ss2747963636 Nov 08, 2017 (151)
5 GNOMAD ss2860850511 Nov 08, 2017 (151)
6 TOPMED ss4768975510 Apr 26, 2021 (155)
7 TOPMED ss4768975511 Apr 26, 2021 (155)
8 TOPMED ss4768975512 Apr 26, 2021 (155)
9 SANFORD_IMAGENETICS ss5644299751 Oct 13, 2022 (156)
10 ExAC NC_000007.13 - 150646079 Oct 12, 2018 (152)
11 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 281082299 (NC_000007.14:150948990:G:A 2/140216)
Row 281082300 (NC_000007.14:150948990:G:T 1/140216)

- Apr 26, 2021 (155)
12 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 281082299 (NC_000007.14:150948990:G:A 2/140216)
Row 281082300 (NC_000007.14:150948990:G:T 1/140216)

- Apr 26, 2021 (155)
13 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 6055249 (NC_000007.13:150646078:G:G 251429/251446, NC_000007.13:150646078:G:A 17/251446)
Row 6055250 (NC_000007.13:150646078:G:G 251445/251446, NC_000007.13:150646078:G:T 1/251446)

- Jul 13, 2019 (153)
14 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 6055249 (NC_000007.13:150646078:G:G 251429/251446, NC_000007.13:150646078:G:A 17/251446)
Row 6055250 (NC_000007.13:150646078:G:G 251445/251446, NC_000007.13:150646078:G:T 1/251446)

- Jul 13, 2019 (153)
15 TopMed

Submission ignored due to conflicting rows:
Row 606353069 (NC_000007.14:150948990:G:A 2/264690)
Row 606353070 (NC_000007.14:150948990:G:C 4/264690)
Row 606353071 (NC_000007.14:150948990:G:T 1/264690)

- Apr 26, 2021 (155)
16 TopMed

Submission ignored due to conflicting rows:
Row 606353069 (NC_000007.14:150948990:G:A 2/264690)
Row 606353070 (NC_000007.14:150948990:G:C 4/264690)
Row 606353071 (NC_000007.14:150948990:G:T 1/264690)

- Apr 26, 2021 (155)
17 TopMed

Submission ignored due to conflicting rows:
Row 606353069 (NC_000007.14:150948990:G:A 2/264690)
Row 606353070 (NC_000007.14:150948990:G:C 4/264690)
Row 606353071 (NC_000007.14:150948990:G:T 1/264690)

- Apr 26, 2021 (155)
18 ALFA NC_000007.14 - 150948991 Apr 26, 2021 (155)
19 ClinVar RCV000939139.7 Oct 13, 2022 (156)
20 ClinVar RCV001841926.2 Oct 13, 2022 (156)
21 ClinVar RCV001955482.3 Oct 13, 2022 (156)
Help

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
9114391, ss1689026201, ss2736891290, ss2747963636, ss2860850511 NC_000007.13:150646078:G:A NC_000007.14:150948990:G:A (self)
RCV000939139.7, RCV001841926.2, 5801773477, ss2299065026, ss4768975510 NC_000007.14:150948990:G:A NC_000007.14:150948990:G:A (self)
RCV001955482.3, 5801773477, ss2299065026, ss4768975511 NC_000007.14:150948990:G:C NC_000007.14:150948990:G:C (self)
ss5644299751 NC_000007.13:150646078:G:T NC_000007.14:150948990:G:T (self)
5801773477, ss4768975512 NC_000007.14:150948990:G:T NC_000007.14:150948990:G:T (self)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs768725008

Help

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:
Select flank length:

Genomic regions, transcripts, and products
Top Help

NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Software version is: 2.0.1.post761+d5e8e07